MFN2 - mitofusin 2 Gene

Homo sapiens

Also known as HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B

Gene ID: 9927 | Gene type: protein coding

About MFN2

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,980,444-12,013,508 (from NCBI)

This gene has 33 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in heart (RPKM 98.6), thyroid (RPKM 37.1) and 24 other tissues.

Summary

This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

MFN2 Products(2)

mRNA	Protein	Name
NM_001127660.2	NP_001121132.1	mitofusin-2
NM_014874.4	NP_055689.1	mitofusin-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16936636	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	16936636	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in aerobic respiration	IMP IMP: Inferred from mutant phenotype	19889647	GOA
involved in mitochondrial fusion	IMP IMP: Inferred from mutant phenotype	23921378	GOA
involved in mitochondrial membrane organization	IDA IDA: Inferred from direct assay	11181170	GOA
involved in mitochondrion localization	IDA IDA: Inferred from direct assay	11181170	GOA
involved in negative regulation of Ras protein signal transduction	IDA IDA: Inferred from direct assay	15322553	GOA
involved in positive regulation of vascular associated smooth muscle cell apoptotic process	IMP IMP: Inferred from mutant phenotype	27640178	GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	27640178	GOA
acts upstream of or within protein localization to phagophore assembly site	IDA IDA: Inferred from direct assay	23455425	GOA
involved in protein targeting to mitochondrion	IDA IDA: Inferred from direct assay	11181170	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	11181170	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFN2 Protein Structure

Dynamin_N

Fzo_mitofusin

0
200
400
600
757 a.a.

Protein Preferred Names

Protein Names

mitofusin-2

hyperplasia suppressor

MFN2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MFN2	O95140	MFN1	Homo sapiens	Q8IWA4	Anti Tag CoIP	35271311
Intra	MFN2	O95140	MARCHF5	Homo sapiens	Q9NX47	Anti Tag CoIP	16936636
Intra	MFN2	O95140	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	24282027
Intra	MFN2	O95140	LRRK2	Homo sapiens	Q5S007	Confocal	24282027
Intra	MFN2	O95140	PRKN	Homo sapiens	O60260	Anti Bait CoIP	23620051
Intra	MFN2	O95140	PRKN	Homo sapiens	O60260	Anti Tag CoIP	23620051

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy	Cmt6
Charcot-Marie-Tooth Disease Type 6	Hmsn Vi
HMSN6A	Hmsn Via
Hmsn6	Cmt6a
Charcot-Marie-Tooth Disease, Type 6	Hereditary Motor And Sensory Neuropathy Type 6
Hereditary Motor And Sensory Neuropathy Type Vi	Neuropathy, Hereditary Motor And Sensory, Type 6a
Neuropathy, Hereditary Motor And Sensory, Type Vi	Charcot-Marie-Tooth Disease, Type 6a
Hereditary Motor And Sensory Neuropathy Via	Hmsn 6
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy	Charcot-Marie-Tooth Disease 6
Charcot-Marie-Tooth Disease 6a	Hereditary Motor And Sensory Neuropathy Type Via
Hereditary Motor And Sensory Neuropathy Vi

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a

Charcot-Marie-Tooth Disease, Axonal, Type 2a2	Cmt2a2
CMT2A2A	Hereditary Motor And Sensory Neuropathy Iia2
Hmsn2a2	Hmsn Iia2
Charcot-Marie-Tooth Disease, Neuronal, Type 2a2	Charcot-Marie-Tooth Neuropathy, Type 2a2
Charcot-Marie-Tooth Disease, Axonal, Type 2a2a	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
Charcot-Marie-Tooth Disease 2a2a	Charcot-Marie-Tooth Disease Axonal Type 2a2
Charcot-Marie-Tooth Disease Neuronal Type 2a2	Charcot-Marie-Tooth Neuropathy Type 2a2

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

CMT2A2B	Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b
Charcot-Marie-Tooth Disease 2a2b

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency	Ar-Cmt2, Ouvrier Type
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type	Seoan Due To Mfn2 Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b	Cmt2a2b
Charcot-Marie-Tooth Disease, Type 2a2b

Axonal Neuropathy

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
Charcot-Marie-Tooth Neuronal Type 2a2	Charcot-Marie-Tooth Neuropathy Type 2a2
Cmt2a2a	Hereditary Motor And Sensory Neuropathy Iia2
Hmsn Iia2	Hmsn2a2

Lipomatosis, Multiple Symmetric

Multiple Symmetric Lipomatosis	Lipomatosis, Familial Benign Cervical
Lipomatosis, Multiple Symmetrical	Lipodystrophy, Cephalothoracic
Benign Symmetrical Lipomatosis	Madelung Disease
Madelung'S Disease	MSL
Cervical Symmetrical Lipomatosis	Launois-Bensaude'S Lipomatosis
Madelung'S Neck	Multiple Symmetrical Lipomatosis
Familial Symmetric Lipomatosis	Launois-Bensaude Syndrome
Cephalothoracic Lipodystrophy	Familial Benign Cervical Lipomatosis
Launois-Bensaude Lipomatosis

Hereditary Motor And Sensory Neuropathy V

Hmsn V	Peroneal Muscular Atrophy With Pyramidal Features, Autosomal Dominant
Cmt With Pyramidal Features	Hereditary Motor And Sensory Neuropathy Type 5
Hmsn 5	Hmsn5
Charcot-Marie-Tooth Disease With Pyramidal Features, Autosomal Dominant	Charcot-Marie-Tooth Neuropathy With Pyramidal Features, Autosomal Dominant
Hereditary Motor And Sensory Neuropathy 5	Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome
Hereditary Motor And Sensory Neuropathy Type V	Spastic Paraplegia, Hereditary

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hyperpigmentation Of The Skin

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Genetic Motor Neuron Disease

Genetic Anterior Horn Cell Disease

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Autosomal Dominant Optic Atrophy Plus Syndrome

Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Capos Syndrome
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing Loss
Capos	Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
Dominant Optic Atrophy Plus Syndrome	Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, And Myopathy
Optic Atrophy - Deafness- Polyneuropathy - Myopathy	Treft-Sanborn-Carey Syndrome
Doa+	Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome	Optic Atrophy Autosomal Dominant
Treft Sanborn Carey Syndrome

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Lipomatosis

Benign Symmetrical Lipomatosis

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease, Axonal, Type 2a1

CMT2A1	Charcot-Marie-Tooth Disease Type 2a1
Hereditary Motor And Sensory Neuropathy Iia1	Hmsn Iia1
Hmsn2a1	Charcot-Marie-Tooth Disease, Type 2a1
Charcot-Marie-Tooth Disease Neuronal Type 2a1	Charcot-Marie-Tooth Neuropathy Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1	Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
Charcot-Marie-Tooth Neuropathy, Type 2a1	Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1	Charcot-Marie-Tooth Disease 2a1
Charcot-Marie-Tooth Disease Axonal Type 2a1

Charcot-Marie-Tooth Disease, Type 4a

Charcot-Marie-Tooth Disease Type 4a	CMT4A
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a	Charcot-Marie-Tooth Neuropathy, Type 4a
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a	Charcot-Marie-Tooth Neuropathy Type 4a
Charcot-Marie-Tooth Disease 4a	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
Charcot-Marie-Tooth Disease Neuropathy Type 4a

Cranial Nerve Disease

Cranial Nerve Disorder	Disorder Of Cranial Nerve
Cranial Nerve Diseases

Hereditary Motor And Sensory Neuropathy, Type Iic

CMT2C	Charcot-Marie-Tooth Disease Axonal Type 2c
HMSN2C	Hmsn Iic
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c	Charcot-Marie-Tooth Neuropathy Type 2c
Hereditary Motor And Sensory Neuropathy Type Iic	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
Charcot-Marie-Tooth Neuropathy, Type 2c	Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease 2c	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
Charcot-Marie-Tooth Disease, Type 2c

Charcot-Marie-Tooth Disease, Dominant Intermediate D

CMTDID	Charcot-Marie-Tooth Disease Dominant Intermediate D
Di-Cmtd	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D	Charcot-Marie-Tooth Neuropathy Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a	CMT1A
Charcot-Marie-Tooth Disease, Type Ia	Hmsn1a
Hereditary Motor And Sensory Neuropathy Ia	Hmsn Ia
Charcot-Marie-Tooth Neuropathy, Type 1a	Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Neuropathy Type 1a	Hereditary Motor And Sensory Neuropathy 1a
Microduplication 17p12	Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a	Cmt 1a
Charcot Marie Tooth Disease Type 1a	Hmsn 1a
Charcot-Marie-Tooth Disease 1a	Charcot-Marie-Tooth Disease Demyelinating Type 1a
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Charcot-Marie-Tooth Disease Type 1b	CMT1B
Hereditary Motor And Sensory Neuropathy Ib	Hmsn Ib
Hmsn1b	Peroneal Muscular Atrophy
Charcot-Marie-Tooth Disease, Type 1b	Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
Charcot-Marie-Tooth Neuropathy Type 1b	Charcot-Marie-Tooth Disease, Type Ib
Hereditary Motor And Sensory Neuropathy I	Hmsn I
Hmsn1	Charcot-Marie-Tooth Neuropathy, Type 1b
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy	Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b	Charcot-Marie-Tooth Disease 1b
Charcot-Marie-Tooth Disease Demyelinating Type 1b	Hmsn Type I
Hereditary Motor And Sensory Neuropathy Type I	Charcot-Marie-Tooth Disease

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy	Hereditary Neuropathy With Liability To Pressure Palsies
HNPP	Polyneuropathy, Familial Recurrent
Neuropathy, Recurrent, With Pressure Palsies	Current Pressure-Sensitive Neuropathy
Familial Recurrent Polyneuropathy	Heterozygous Microdeletion 17p11.2p12
Potato-Grubbing Palsy	Tulip-Bulb Digger'S Palsy
Compression Neuropathy	Entrapment Neuropathy
Familial Pressure Sensitive Neuropathy	Hereditary Motor And Sensory Neuropathy
Hereditary Pressure Sensitive Neuropathy	Inherited Tendency To Pressure Palsies
Hereditary Liability To Pressure Palsies	Nerve Compression Syndrome
Entrapment Neuropathies	Hereditary Motor And Sensory Neuropathies

Hereditary Neuropathies

Hereditary Neuropathy

Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A	CMTRIA
Ri-Cmta	Charcot-Marie-Tooth Disease, Recessive Intermediate, A
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A	Charcot-Marie-Tooth Neuropathy Recessive Intermediate A
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A	Ri-Cmt Type A
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1	Cmtx
Charcot-Marie-Tooth Disease X-Linked Dominant 1	Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
X-Linked Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
Cmt1x	X-Linked Charcot-Marie-Tooth Disease Type 1
X-Linked Hereditary Motor And Sensory Neuropathy	Hereditary Motor And Sensory Neuropathy, X-Linked
Hmsn, X-Linked	Charcot-Marie-Tooth Neuropathy, X-Linked, 1
Cmt2, Formerly	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
Charcot-Marie-Tooth Neuropathy X-Linked 1	Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
Hereditary Motor And Sensory Neuropathy X-Linked	Hmsn X-Linked
Charcot-Marie-Tooth, X-Linked	Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth Disease, Axonal, Type 2f

Charcot-Marie-Tooth Disease Axonal Type 2f	CMT2F
Charcot-Marie-Tooth Disease, Neuronal, Type 2f	Charcot-Marie-Tooth Neuropathy, Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f	Charcot-Marie-Tooth Neuropathy Type 2f
Charcot-Marie-Tooth Neuronal Type 2f	Charcot-Marie-Tooth Disease Type 2f
Cmt 2f	Charcot Marie Tooth Disease Type 2f
Charcot-Marie-Tooth Disease 2f	Charcot-Marie-Tooth Disease Neuronal Type 2f
Charcot-Marie-Tooth Disease, Type 2f

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Optic Atrophy 11

OPA11

Atrophy, Optic, Type 11

Charcot-Marie-Tooth Disease, Axonal, Type 2i

CMT2I	Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease Type 2i	Charcot-Marie-Tooth Neuropathy Type 2i
Charcot-Marie-Tooth Neuropathy, Type 2i	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
Charcot-Marie-Tooth Disease 2i	Charcot-Marie-Tooth Disease Axonal Type 2i
Charcot-Marie-Tooth Disease Neuronal Type 2i

Charcot-Marie-Tooth Disease Type X

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2	CMT2B2
Arcmt2b	Charcot-Marie-Tooth Disease, Type 2b2
Ar-Cmt2b2	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
Autosomal Recessive Axonal Cmt4c3	Charcot-Marie-Tooth Disease Neuronal Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2	Charcot-Marie-Tooth Neuropathy, Type 2b2
Charcot-Marie-Tooth Disease 2b2	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
Charcot-Marie-Tooth Disease Axonal Type 2b2

Charcot-Marie-Tooth Disease, Axonal, Type 2l

Charcot-Marie-Tooth Disease Axonal Type 2l	CMT2L
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l	Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Neuropathy Axonal Type 2l	Charcot-Marie-Tooth Disease 2l
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l	Charcot-Marie-Tooth Disease Neuronal Type 2l
Charcot-Marie-Tooth Neuropathy Type 2l	Charcot-Marie-Tooth Disease, Type 2l
Charcot-Marie-Tooth Disease, Type 2i

Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3	OPA3
Autosomal Dominant Optic Atrophy And Cataract	Optic Atrophy And Cataract, Autosomal Dominant
Autosomal Dominant Optic Atrophy Type 3	Optic Atrophy 3 With Cataract
Opa3, Autosomal Dominant	Adoac
Optic Atrophy, Cataract, And Neurologic Disorder	Autosomal Dominant Optic Atrophy 3
Optic Atrophy Type 3	Optic Atrophy 3 Autosomal Dominant
Atrophy, Optic, Type 3, Autosomal Dominant	3-Methylglutaconic Aciduria Type 3

Charcot-Marie-Tooth Disease, Axonal, Type 2d

Charcot-Marie-Tooth Disease Type 2d	CMT2D
Charcot-Marie-Tooth Disease, Type 2d	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
Charcot-Marie-Tooth Disease Neuronal Type 2d	Charcot-Marie-Tooth Neuropathy Type 2d
Charcot-Marie-Tooth Disease, Neuronal, Type 2d	Charcot-Marie-Tooth Neuropathy, Type 2d
Charcot-Marie-Tooth Disease 2d	Charcot-Marie-Tooth Disease Axonal Type 2d

Charcot-Marie-Tooth Disease, Type 4c

Charcot-Marie-Tooth Disease Type 4c	CMT4C
Charcot-Marie-Tooth Neuropathy Type 4c	Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
Charcot-Marie-Tooth Neuropathy, Type 4c	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
Charcot-Marie-Tooth Disease 4c	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Charcot-Marie-Tooth Disease Axonal Type 2n	CMT2N
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Neuropathy Axonal Type 2n
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Disease 2n
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n	Charcot-Marie-Tooth Disease, Type 2n

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease	Dejerine-Sottas Syndrome
Charcot-Marie-Tooth Disease Type 3	DSS
Hereditary Motor And Sensory Neuropathy Type Iii	Hmsn3
Dejerine-Sottas Neuropathy	Hmsn Iii
Charcot-Marie-Tooth Disease, Type 3	Cmt3
Dsn	Hmsn 3
Hereditary Motor And Sensory Neuropathy Type 3	Hereditary Motor And Sensory Neuropathy 3
Hypertrophic Neuropathy Of Infancy	Charcot-Marie-Tooth Disease Demyelinating Type 4f
Charcot-Marie-Tooth Disease Type 4f	Charcot-Marie-Tooth Neuropathy Type 4f
Cmt4f	Hereditary Motor And Sensory Neuropathy Iii
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Pelvic Organ Prolapse

Rectal Prolapse	Pelvic Organ Prolapse, Susceptibility To, 1
Pelvic Organ Prolapse, Susceptibility To	Prolapse Of Vagina And Rectum
Vaginal Prolapse	Pelvic Organ Prolapse 1
Procidentia, Rectum	Prolapse Of Rectal Mucosa
Procidentia Of Rectum	Rectal Mucosa Prolapse
Rectum Prolapse	Procidentia Rectum
Rp - [Rectal Prolapse]	Male Proctocele
Male Rectocele	Proctoptosis
Female Genital Prolapse	Female Prolapse
Incompetence Of Pelvic Fundus	Relaxation Of Perineum
Deficiency Of Perineum

Kearns-Sayre Syndrome

Ophthalmoplegia	Mitochondrial Cytopathy
KSS	Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
Oculocraniosomatic Syndrome	Chronic Progressive External Ophthalmoplegia With Myopathy
Cpeo With Myopathy	Total Ophthalmoplegia
Ophthalmoplegia-Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Cpeo With Ragged-Red Fibers	Oculomotor Paralysis
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O	Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia	Cpeo With Ragged Red Fibers
Ophthalmoplegia Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged Red Fibers
Kearns-Sayre Mitochondrial Cytopathy	Mitochondrial Myopathies

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive

Gamstorp-Wohlfart Syndrome	Autosomal Recessive Axonal Neuropathy With Neuromyotonia
NMAN	Myokymia, Myotonia, And Muscle Wasting
Aran-Nm	Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia
Autosomal Recessive Neuromyotonia And Axonal Neuropathy	Arcmt2-Nm
Myokymia, Myotonia And Muscle Wasting	Myokymia Myotonia And Muscle Wasting
Isaacs Syndrome

Toxic Optic Neuropathy

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10	Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
Optic Atrophy 10	Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Behr Syndrome

BEHRS	Abortive Cerebellar Ataxia
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities	Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss	Obsolete: Behr Syndrome
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss	Infantile Hereditary Optic Atrophy With Neurologic Abnormalities

Asymmetric Motor Neuropathy

Diffuse Lipomatosis

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b	CMT2B
Hmsn Iib	Hmsn2b
Charcot-Marie-Tooth Disease, Type 2b	Hereditary Motor And Sensory Neuropathy Iib
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b	Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b	Charcot-Marie-Tooth Neuropathy, Type 2b
Hereditary Motor And Sensory Nueropathy Iib	Cmt 2b
Charcot Marie Tooth Disease Type 2b	Charcot-Marie-Tooth Disease, Neuronal, Type 2b
Hereditary Motor And Sensory Neuropathy 2 B	Peripheral Sensory Neuropathy, Autosomal Dominant
Charcot-Marie-Tooth Disease 2b	Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Disease Neuronal Type 2b	Peripheral Sensory Neuropathy Autosomal Dominant
Psn

Charcot-Marie-Tooth Disease Intermediate Type

Intermediate Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease Dominant Intermediate
Charcot-Marie-Tooth Disease Recessive Intermediate	Intermediate Cmt
Intermediate Hereditary Motor And Sensory Neuropathy	Charcot-Marie-Tooth Disease, Intermediate Type
Charcot-Marie-Tooth, Intermediate

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2	Hsan2
HSAN2A	Morvan Disease
Hereditary Sensory And Autonomic Neuropathy Type Ii	Neurogenic Acroosteolysis
Hsan Iia	Hsn2a
Hsn Iia	Neuropathy, Progressive Sensory, Of Children
Neuropathy, Congenital Sensory	Neuropathy, Hereditary Sensory And Autonomic, Type Ii
Hereditary Sensory And Autonomic Neuropathy Type 2a	Hereditary Sensory And Autonomic Neuropathy Type Iia
Hsanii	Congenital Sensory Neuropathy
Hsan Type Ii	Morvan Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type 2a	Morvan'S Disease
Neuropathy, Hereditary Sensory, Type Iia	Acroosteolysis, Neurogenic
Acroosteolysis, Giaccai Type	Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Autonomic Neuropathy Type 2	Giaccai Type Acroosteolysis
Hereditary Sensory Neuropathy Type 2	Hereditary Sensory Radicular Neuropathy, Recessive Form
Hsan2b	Hsan2c
Hsan2d	Hsn Type Ii
Autosomal Recessive Sensory Radicular Neuropathy	Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Morvan Fibrillary Chorea	Neuropathy, Hereditary Sensory And Autonomic, 2a
Acroosteolysis Giaccai Type	Hereditary Sensory Neuropathy Type Iia
Hereditary Sensory Radicular Neuropathy Autosomal Recessive	Progressive Sensory Neuropathy Of Children
Neuropathy Congenital Sensory	Charcot-Marie-Tooth Disease
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia	Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii	Sensory Neuropathy, Hereditary
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2	CMT4B2
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2	Charcot-Marie-Tooth Neuropathy, Type 4b2
Charcot-Marie-Tooth Neuropathy Type 4b2	Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
Cmt 4b2	Charcot Marie Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease 4b2	Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome	MERRF
Fukuhara Syndrome	Myoclonic Epilepsy Associated With Ragged Red Fibers
Myoencephalopathy Ragged-Red Fiber Disease	Myoclonic Epilepsy - Ragged Red Fibers
Myoclonus Epilepsy And Ragged Red Fibers	Myoclonus With Epilepsy And With Ragged Red Fibers
Myoclonic Epilepsy With Ragged Red Fibers	Myoclonic Epilepsy With Ragged-Red Fibers
Fukuhara Disease	Myoclonus Epilepsy Associated With Ragged-Red Fibres
Myoclonus With Epilepsy With Ragged Red Fibers

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diabetes Mellitus

Diabetes

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150031	MFI8	Inhibitor	99.44%	Unkown
HY-W187305	MASM7		99.56%	Unkown
HY-126124	AP39		95.98%	Unkown
HY-13338	Mabuterol	Agonist	99.96%	Unkown
HY-123985	MFN2 agonist-1		99.28%	Unkown
HY-RS08384	MFN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W755295	Mabuterol hydrochloride	Agonist	/	Unkown
HY-152051S	Mabuterol-d9 hydrochloride	Agonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MFN2	VGNC	VGNC:31428
Felis catus	MFN2	VGNC	VGNC:63472
Rattus norvegicus	MFN2	RGD	RGD:628843
Macaca mulatta	MFN2	VGNC	VGNC:74522
Mus musculus	MFN2	MGD	MGI:2442230
Canis familiaris	MFN2	VGNC	VGNC:43193
Others	MFN2	NCBI