GDAP1 - ganglioside induced differentiation associated protein 1 Gene

Homo sapiens

Also known as CMT4; CMT4A; CMTRIA

Gene ID: 54332 | Gene type: protein coding

About GDAP1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:74,350,403-74,488,872 (from NCBI)

This gene has 50 transcripts (splice variants), 245 orthologues, 14 paralogues and is associated with 9 phenotypes. Broad expression in brain (RPKM 21.7), adrenal (RPKM 4.4) and 14 other tissues.

Summary

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

GDAP1 Products(6)

mRNA	Protein	Name
NM_001040875.4	NP_001035808.1	ganglioside-induced differentiation-associated protein 1 isoform b
NM_001362929.2	NP_001349858.1	ganglioside-induced differentiation-associated protein 1 isoform c
NM_001362930.2	NP_001349859.1	ganglioside-induced differentiation-associated protein 1 isoform d
NM_001362931.2	NP_001349860.1	ganglioside-induced differentiation-associated protein 1 isoform e
NM_001362932.2	NP_001349861.1	ganglioside-induced differentiation-associated protein 1 isoform c
NM_018972.4	NP_061845.2	ganglioside-induced differentiation-associated protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial fission	IDA IDA: Inferred from direct assay	15772096	GOA
involved in mitochondrial fusion	IMP IMP: Inferred from mutant phenotype	21753178	GOA
involved in protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	15772096	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	15772096	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

GDAP1 Protein Structure

GST_N_3

GST_C_2

0
100
200
300
358 a.a.

Protein Preferred Names

Protein Names

ganglioside-induced differentiation-associated protein 1

Charcot-Marie-Tooth neuropathy 4A

GDAP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Y2H Array	32814053
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Y2H Array	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Y2H Array	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Y2H Array	32814053
Intra	GDAP1	Q8TB36	DCBLD2	Homo sapiens	Q96PD2-2	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	STARD4	Homo sapiens	Q96DR4	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Y2H Array	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Y2H Array	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Y2H Array	32814053
Intra	GDAP1	Q8TB36	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Charcot-Marie-Tooth Disease Axonal Type 2k	CMT2K
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Arcmt2k
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k	Autosomal Recessive Axonal Cmt4c4
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k	Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k
Charcot-Marie-Tooth Neuropathy Axonal Type 2k	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease 2k	Charcot-Marie-Tooth Disease Neuronal Type 2k
Charcot-Marie-Tooth Neuropathy Type 2k	Charcot-Marie-Tooth Disease, Type 2k

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, Axonal, With Vocal Cord Paresis, Autosomal Recessive

Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis	Cmt2 With Vocal Cord Paresis, Autosomal Recessive
Charcot-Marie-Tooth Disease, Type 4a, Axonal Form	Charcot-Marie-Tooth Neuropathy, Axonal, With Vocal Cord Paresis, Autosomal Recessive
CMT2RV	Charcot-Marie-Tooth Axonal Type 4a
Charcot-Marie-Tooth Neuropathy Axonal With Vocal Cord Paresis Autosomal Recessive	Cmt2 With Vocal Cord Paresis Autosomal Recessive

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

Polyneuropathy

Polyneuropathies

Axonal Neuropathy

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

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

Peripheral Nervous System Disease

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

Creatine Phosphokinase, Elevated Serum

Hyperckemia, Idiopathic	Cpk, Elevated Serum
Hyperckmia	HYPCK

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

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

CMT2H	Charcot-Marie-Tooth Disease Axonal Type 2h
Ar-Cmt2c	Autosomal Recessive Axonal Cmt4c2
Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement	Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive	Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features	Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features
Charcot-Marie-Tooth Disease, Type 2h

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

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

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

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, 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, Axonal, Type 2j

CMT2J	Charcot-Marie-Tooth Disease, Type 2j
Charcot-Marie-Tooth Disease Type 2j	Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities
Charcot-Marie-Tooth Neuropathy Type 2j	Charcot-Marie-Tooth Neuropathy, Type 2j
Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease 2j	Charcot-Marie-Tooth Disease Axonal Type 2j
Charcot-Marie-Tooth Disease Neuronal Type 2j

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

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

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, 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

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE	Charcot-Marie-Tooth Disease Dominant Intermediate E
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
Charcot-Marie-Tooth Disease-Nephropathy Syndrome	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

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, Type 4d

Charcot-Marie-Tooth Disease Type 4d	CMT4D
Hmsnl	Hmsn4d
Charcot-Marie-Tooth Neuropathy Type 4d	Hereditary Motor And Sensory Neuropathy Lom Type
Hmsn-Lom	Neuropathy, Hereditary Motor And Sensory, Lom Type
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d	Charcot-Marie-Tooth Neuropathy, Type 4d
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d	Hmsn Lom Type
Hmsn, Lom Type	Hereditary Motor And Sensory Neuropathy, Lom Type
Charcot-Marie-Tooth Disease 4d	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
Hereditary Motor And Sensory Neuropathy Ivd	Hmsn Ivd

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

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f	CMT4F
Charcot-Marie-Tooth Disease, Type 4f	Charcot-Marie-Tooth Disease 4f
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f	Charcot-Marie-Tooth Neuropathy Type 4f
Dejerine-Sottas Disease

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Charcot-Marie-Tooth Disease Recessive Intermediate D	CMTRID
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D	Ri-Cmt Type D
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D

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

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

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, 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

Charcot-Marie-Tooth Disease Dominant Intermediate A

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A	Cmtdia
Charcot-Marie-Tooth Neuropathy Dominant Intermediate A	Di-Cmta
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A

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

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

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

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, Dominant Intermediate F

CMTDIF	Charcot-Marie-Tooth Disease Dominant Intermediate F
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1	Charcot-Marie-Tooth Disease, Type 2b1
CMT2B1	Autosomal Recessive Axonal Cmt4c1
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1	Charcot-Marie-Tooth Disease Neuronal Type 2b1
Charcot-Marie-Tooth Neuropathy Type 2b1	Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1	Charcot-Marie-Tooth Neuropathy, Type 2b1
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1	Ar-Cmt2b1
Charcot-Marie-Tooth Disease 2b1	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
Charcot-Marie-Tooth Disease Axonal Type 2b1

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

CMT2T	Charcot-Marie-Tooth Disease Axonal Type 2t
Charcot-Marie-Tooth Neuropathy, Type 2t	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
Ar-Cmt2t	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy Type 2t
Charcot-Marie-Tooth Disease Type 2t	Mme-Related Autosomal Dominant Cmt2
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2	Charcot-Marie-Tooth Disease 2t
Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Spastic Paraplegia 55, Autosomal Recessive

SPG55	Hereditary Spastic Paraplegia 55
Autosomal Recessive Spastic Paraplegia Type 55	Autosomal Recessive Spastic Paraplegia 55
Paraplegia, Spastic, Autosomal Recessive, Type 55

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

Charcot-Marie-Tooth Disease Type 1d	CMT1D
Hmsn Id	Hmsn1d
Charcot-Marie-Tooth Disease, Type 1d	Hereditary Motor And Sensory Neuropathy 1d
Charcot-Marie-Tooth Neuropathy Type 1d	Charcot-Marie-Tooth Neuropathy, Type 1d
Charcot-Marie-Tooth Disease 1d	Charcot-Marie-Tooth Disease Demyelinating Type 1d
Hereditary Motor And Sensory Neuropathy Id	Charcot-Marie-Tooth Disease, Type Id

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1	CMT4B1
Cmt4b	Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Disease Type 4b	Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
Charcot-Marie-Tooth Neuropathy, Type 4b1	Charcot-Marie-Tooth Disease, Type 4b
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1	Charcot-Marie-Tooth Disease 4b1
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB	Charcot-Marie-Tooth Disease Dominant Intermediate B
Di-Cmtb	Cmtdi1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m	Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
CMT2M	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Axonal Type 2m	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Charcot-Marie-Tooth Disease 2m	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
Charcot-Marie-Tooth Disease Axonal Type 2m	Charcot-Marie-Tooth Neuropathy Axonal Type 2m
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B	Charcot-Marie-Tooth Disease, Axonal, Type 2m
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

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

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

Charcot-Marie-Tooth Disease Type X

Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h	CMT4H
Charcot-Marie-Tooth Neuropathy Type 4h	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h	Charcot-Marie-Tooth Neuropathy, Type 4h
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
Charcot-Marie-Tooth Disease 4h	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Clubfoot

Congenital Talipes Equinovarus	Congenital Clubfoot
Congenital Equinovarus	Equinovarus Deformity Of Foot
Club Foot

Charcot-Marie-Tooth Disease, Dominant Intermediate C

CMTDIC	Charcot-Marie-Tooth Disease Dominant Intermediate C
Di-Cmtc	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C	Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

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

Charcot-Marie-Tooth Disease Type 2r	CMT2R
Charcot-Marie-Tooth Neuropathy, Type 2r	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r
Charcot-Marie-Tooth Disease, Type 2r	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r
Charcot-Marie-Tooth Neuropathy Type 2r	Charcot-Marie-Tooth Disease 2r
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r	Charcot-Marie-Tooth Disease Axonal Type 2r
Charcot-Marie-Tooth Neuropathy Axonal Type 2r

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g	HMSNR
Cmt4g	Hereditary Motor And Sensory Neuropathy, Russe Type
Charcot-Marie-Tooth Disease, Type 4g	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
Charcot-Marie-Tooth Neuropathy Type 4g	Charcot-Marie-Tooth Neuropathy, Type 4g
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g	Hereditary Motor And Sensory Neuropathy Russe Type
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

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

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

CMT2P	Charcot-Marie-Tooth Disease Axonal Type 2p
Charcot-Marie-Tooth Disease Type 2p	Charcot-Marie-Tooth Neuropathy, Type 2p
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly	Cmt2g, Formerly
Charcot-Marie-Tooth Neuropathy Type 2p	Charcot-Marie-Toothe Disease, Axonal, Type 2p
Charcot-Marie-Tooth Disease 2p	Charcot-Marie-Tooth Disease, Axonal Type 2g
Charcot-Marie-Tooth Neuropathy Axonal Type 2p	Cmt2g
Charcot-Marie-Tooth Disease, Type 2p	Charcot-Marie-Tooth Disease, Axonal, Type 2g

Neuronopathy, Distal Hereditary Motor, Type Iib

HMN2B	Hmn Iib
Neuropathy, Distal Hereditary Motor, Type Iib	Dhmn2b
Distal Hereditary Motor Neuropathy Type 2b	Distal Hereditary Motor Neuropathy Type Iib
Neuronopathy, Distal Hereditary Motor, Type 2b	Neuronopathy, Distal Hereditary Motor, 2b
Dhmn Ii	Neuropathy, Motor, Distal, Hereditary, Type 2b

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

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j	CMT4J
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
Charcot-Marie-Tooth Disease 4j

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

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

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

Charcot-Marie-Tooth Disease Type 1c	CMT1C
Hmsn1c	Hmsn Ic
Charcot-Marie-Tooth Disease, Type 1c	Charcot-Marie-Tooth Neuropathy Type 1c
Cmt, Slow Nerve Conduction Type C	Charcot-Marie-Tooth Neuropathy, Type 1c
Neuropathy, Hereditary Motor And Sensory, Type Ic	Cmt Slow Nerve Conduction Type C
Neuropathy Hereditary Motor And Sensory Type 1c	Charcot-Marie-Tooth Disease 1c
Charcot-Marie-Tooth Disease Demyelinating Type 1c	Hereditary Motor And Sensory Neuropathy Ic
Charcot-Marie-Tooth Disease, Type Ic

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

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05346	GDAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GDAP1	RGD	RGD:1309005
Macaca mulatta	GDAP1	VGNC	VGNC:72725
Felis catus	GDAP1	VGNC	VGNC:62498
Mus musculus	GDAP1	MGD	MGI:1338002
Bos taurus	GDAP1	VGNC	VGNC:29295
Canis familiaris	GDAP1	VGNC	VGNC:41155