POMT1 - protein O-mannosyltransferase 1 Gene

Homo sapiens

Also known as RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11

Gene ID: 10585 | Gene type: protein coding

About POMT1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:131,502,918-131,523,799 (from NCBI)

This gene has 77 transcripts (splice variants), 200 orthologues, 3 paralogues and is associated with 10 phenotypes. Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues.

Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

POMT1 Products(20)

mRNA	Protein	Name
NM_001077365.2	NP_001070833.1	protein O-mannosyl-transferase 1 isoform b
NM_001077366.2	NP_001070834.1	protein O-mannosyl-transferase 1 isoform c
NM_001136113.2	NP_001129585.1	protein O-mannosyl-transferase 1 isoform b
NM_001136114.2	NP_001129586.1	protein O-mannosyl-transferase 1 isoform d
NM_001353193.2	NP_001340122.2	protein O-mannosyl-transferase 1 isoform a
NM_001353194.2	NP_001340123.1	protein O-mannosyl-transferase 1 isoform c
NM_001353195.2	NP_001340124.1	protein O-mannosyl-transferase 1 isoform d
NM_001353196.2	NP_001340125.1	protein O-mannosyl-transferase 1 isoform e
NM_001353197.2	NP_001340126.2	protein O-mannosyl-transferase 1 isoform f
NM_001353198.2	NP_001340127.2	protein O-mannosyl-transferase 1 isoform f
NM_001353199.2	NP_001340128.2	protein O-mannosyl-transferase 1 isoform g
NM_001353200.2	NP_001340129.1	protein O-mannosyl-transferase 1 isoform h
NM_001374689.1	NP_001361618.1	protein O-mannosyl-transferase 1 isoform l
NM_001374690.1	NP_001361619.1	protein O-mannosyl-transferase 1 isoform i
NM_001374691.1	NP_001361620.1	protein O-mannosyl-transferase 1 isoform d
NM_001374692.1	NP_001361621.1	protein O-mannosyl-transferase 1 isoform d
NM_001374693.1	NP_001361622.1	protein O-mannosyl-transferase 1 isoform j
NM_001374695.1	NP_001361624.1	protein O-mannosyl-transferase 1 isoform k
NM_001411024.1	NP_001397953.1	protein O-mannosyl-transferase 1 isoform m
NM_007171.4	NP_009102.4	protein O-mannosyl-transferase 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mannosyltransferase activity	IMP IMP: Inferred from mutant phenotype	28512129	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	28512129	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14699049	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

POMT1 Protein Structure

PMT

MIR

0
200
400
600
747 a.a.

Protein Preferred Names

Protein Names

protein O-mannosyl-transferase 1

dolichyl-phosphate-mannose--protein mannosyltransferase 1

Related Diseases

Diseases

Alias

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k	Lgmd2k
MDDGC1	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
Lgmdr11	Muscular Dystrophy, Limb-Girdle, Type 2k
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome	Limb-Girdle Muscular Dystrophy Type 2k
Muscular Dystrophy Limb-Girdle Type 2k	Muscular Dystrophy-Dystroglycanopathy Type C 1
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lgmd Type 2k
Pomt1-Related Lgmd R11	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
Dystrophy, Muscular, Limb-Girdle, Type 2k	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1	Muscular Dystrophy-Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy Type B1
Cmd Due To Dystroglycanopathy	Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
Muscular Dystrophy Congenital Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy
Dystrophy, Muscular, Dystroglycanopathy , Type B1

Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome	MDDGA1
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Muscular Dystrophy-Dystroglycanopathy , Type A1	Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
Hydrocephalus, Agyria, And Retinal Dysplasia	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
Cerebroocular Dysgenesis	Cod
Hard +/- E Syndrome	Hydrocephalus-Agyria-Retinal Dysplasia
Meb	Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease Pomt1-Related	Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
Walker-Warburg Syndrome	Walker-Warburg Syndrome Pomt1-Related
Warburg Syndrome	Wws
Dystrophy, Muscular, Dystroglycanopathy , Type A1	Walker-Warburg Congenital Muscular Dystrophy
Muscle Eye Brain Disease

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Congenital Muscular Dystrophy With Intellectual Disability

Cmd With Intellectual Disability

Cmd-Mr

Congenital Muscular Dystrophy Without Intellectual Disability

Cmd Without Intellectual Disability	Cmd-No Mr
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease	Muscle-Eye-Brain Syndrome
Meb	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
Meb Syndrome	Santavuori Congenital Muscular Dystrophy

Congenital Muscular Dystrophy With Cerebellar Involvement

Cmd With Cerebellar Involvement

Cmd-Crb

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Mdc1c	Muscular Dystrophy-Dystroglycanopathy Type B5
MDDGB5	Muscular Dystrophy, Congenital, 1c
Muscular Dystrophy, Congenital, Fkrp-Related	Congenital Muscular Dystrophy 1c
Fkrp-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
Muscular Dystrophy Congenital Type 1c	Muscular Dystrophy Fkrp-Related

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy	Fcmd
MDDGA4	Fukuyama Type Congenital Muscular Dystrophy
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related	Cerebromuscular Dystrophy, Fukuyama Type
Fukuyama Cmd	Fukuyama Muscular Dystrophy
Fukuyama Syndrome	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Polymicrogyria With Muscular Dystrophy	Congenital Muscular Dystrophy, Fukuyama Type
Fktn-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
Cerebromuscular Dystrophy Fukuyama Type	Congenital Muscular Dystrophy Fukuyama Type
Micropolygyria With Muscular Dystrophy	Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1	Mddga1
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy	Congenital Muscular Dystrophy Due To Dystroglycanopathy
Mddg	Dystrophy, Muscular, Dystroglycanopathy

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome	AMS
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies	Eye Abnormalities

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n	Lgmd2n
MDDGC2	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
Lgmdr14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
Limb-Girdle Muscular Dystrophy Type 2n	Muscular Dystrophy, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Muscular Dystrophy-Dystroglycanopathy Type C 2
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Lgmd Type 2n
Pomt2-Related Lgmd R14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
Mdgd2c	Dystrophy, Muscular, Limb-Girdle, Type 2n

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2	Mddga2
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6	MDDGB6
Mdc1d	Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d	Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related	Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6	Muscular Dystrophy Large-Related

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12	Mddga12
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3	Mddga3
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies	Mddga
Klissencephaly Type 2 With Muscular And Ocular Involvement	Lissencephaly Type 2 With Muscular And Ocular Involvement

Cardiomyopathy, Dilated, 1d

Dilated Cardiomyopathy 1d	CMD1D
Left Ventricular Noncompaction 6, Included	Lvnc6, Included
Left Ventricular Noncompaction 6	Cardiomyopathy, Dilated 1d

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o	MDDGC3
Lgmd2o	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
Lgmdr15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
Muscular Dystrophy, Limb-Girdle, Type 2o	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
Muscular Dystrophy-Dystroglycanopathy Type C3	Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
Lgmd Type 2o	Limb-Girdle Muscular Dystrophy Type 2o
Pomgnt1-Related Lgmd R15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
Dystrophy, Muscular, Limb-Girdle, Type 2o

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Retinitis Pigmentosa 86

RP86	Retinitis Pigmentosa, Type 86

Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m	Lgmd2m
MDDGC4	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
Lgmdr13	Muscular Dystrophy, Limb-Girdle, Type 2m
Muscular Dystrophy-Dystroglycanopathy Type C 4	Fukutin-Related Limb-Girdle Muscular Dystrophy R13
Autosomal Recessive Lgmd Type 2m	Fukutin-Related Lgmd R13
Lgmd Type 2m	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
Limb-Girdle Muscular Dystrophy Type 2m	Mdgd4c
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c	Dystrophy, Muscular, Limb-Girdle, Type 2m

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5	Mddga5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Hydrophthalmos

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
MDDGC5	Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Lgmdr9	Muscular Dystrophy, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related	Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Fkrp-Related Lgmd R9	Lgmd Due To Fkrp Deficiency
Lgmd Type 2i	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy Limb-Girdle Type 2i	Muscular Dystrophy-Dystroglycanopathy Type C 5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5	Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

Cardiomyopathy, Dilated, 1g

Dilated Cardiomyopathy 1g	CMD1G
Cardiomyopathy, Dilated 1g	Cardiomyopathy, Dilated, Type 1g

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Microcephaly

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

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1	Emd1
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures	X-Linked Emery-Dreifuss Muscular Dystrophy 1
Humeroperoneal Neuromuscular Disease	X-Linked Emery-Dreifuss Muscular Dystrophy
Scapuloperoneal Syndrome, X-Linked, Formerly	Humeroperoneal Neuromuscular Disease, Formerly
Scapuloperoneal Syndrome, X-Linked	Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
Scapuloperoneal Syndrome X-Linked	X-Edmd
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome	RSMD1
Rss	Mdrs1
Eichsfeld Type Congenital Muscular Dystrophy	Desmin-Related Myopathy With Mallory Bodies
Classic Multiminicore Myopathy	Sepn1-Related Myopathy
Multicore Myopathy, Severe Classic Form	Minicore Myopathy, Severe Classic Form
Multiminicore Disease, Severe Classic Form	Muscular Dystrophy, Rigid Spine, 1
Classic Mmd	Classic Multiminicore Disease
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity	Desmin-Related Myopathy With Mallory Body-Like Inclusions
Early-Onset Desmin-Related Myopathy	Myopathy, Sepn1-Related
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity	Muscular Dystrophy, Congenital, Eichsfeld Type
Severe Classic Form Minicore Myopathy	Severe Classic Form Multicore Myopathy
Severe Classic Form Multiminicore Disease	Desmin-Related Myopathies With Mallory Bodies
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity	Rigid Spine Muscular Dystrophy-1
Rigid Spine Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Eichsfeld Type
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity	Minicore Myopathy Severe Classic Form
Multicore Myopathy Severe Classic Form	Multiminicore Disease Severe Classic Form
Dystrophy, Muscular, Rigid Spine, Type 1

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation	Ebsmp
Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering	Ebs-Mp
EBS2F	Ebs With Mottled Pigmentation
Epidermolysis Bullosa Simplex-Mp	Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering
Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4	Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4	Emd4
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant	Emery-Dreifuss Muscular Dystrophy 4

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Emd2	Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
Scapuloilioperoneal Atrophy With Cardiopathy	Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
Hauptmann-Thannhauser Muscular Dystrophy	Cardiomyopathy, Dilated, With Quadriceps Myopathy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly	Lgmd1b, Formerly
Muscular Dystrophy, Proximal, Type 1b, Formerly	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Lgmd1b	Limb-Girdle Muscular Dystrophy 1b
Muscular Dystrophy, Proximal, Type 1b	Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Myopathy

Muscular Diseases

Myopathies

Lissencephaly 2

Norman-Roberts Syndrome	Lissencephaly Syndrome, Norman-Roberts Type
LIS2	Lissencephaly With Cerebellar Hypoplasia
Lch	Lissencephaly Syndrome Norman-Roberts Type
Norman Roberts Lissencephaly Syndrome	Lissencephaly 3
Lis3	Microlissencephaly Type A
Norman-Roberts Lissencephaly Syndrome	Lissencephaly, Type 2
Cobblestone Lissencephaly

Muscle Tissue Disease

Physical Disorder

Physical Illness

Muscular Disease

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

Polymicrogyria

Pmg

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10870	POMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POMT1	MGD	MGI:2138994
Canis familiaris	POMT1	VGNC	VGNC:44810
Felis catus	POMT1	VGNC	VGNC:102968
Bos taurus	POMT1	VGNC	VGNC:33158
Macaca mulatta	POMT1	VGNC	VGNC:109508
Rattus norvegicus	POMT1	RGD	RGD:620078