MCID: MSC104
MIFTS: 29

Muscular Dystrophy-Dystroglycanopathy , Type C, 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52 48 12
Lgmd2k 11 48 24 54 70
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 11 48 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 11 48 54
Limb-Girdle Muscular Dystrophy Type 2k 48 24 70
Mddgc1 11 24 70
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 70 27
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 70
Limb-Girdle Muscular Dystrophy - Intellectual Disability 48
Muscular Dystrophy-Dystroglycanopathy Type C 1 11
Muscular Dystrophy-Dystroglycanopathy Type C1 24
Muscular Dystrophy, Limb-Girdle, Type 2k 68
Muscular Dystrophy Limb-Girdle Type 2k 11
Lgmd 2k 24

Characteristics:

Orphanet epidemiological data:

54
lgmd2k:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
muscular dystrophy-dystroglycanopathy , type c, 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, slow progression, variable expressivity

Classifications:



External Ids:

OMIM52 609308
Disease Ontology11 DOID:0110297
ICD1030 G71.0
Orphanet54 ORPHA86812
ICD10 via Orphanet31 G71.0
MedGen37 C1836373
MeSH39 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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OMIM:52 Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent... (609308) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy, limb-girdle, type 2a and muscular dystrophy-dystroglycanopathy , type c, 3, and has symptoms including cardiomyopathy, microcephaly and intellectual disability. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

UniProtKB/Swiss-Prot:70 Muscular dystrophy-dystroglycanopathy limb-girdle C1: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 muscular dystrophy-dystroglycanopathy , type c, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2muscular dystrophy-dystroglycanopathy , type c, 310.8
3muscular dystrophy-dystroglycanopathy , type c, 1410.8
4muscular dystrophy-dystroglycanopathy , type c, 910.8
5muscular dystrophy-dystroglycanopathy , type b, 110.8
6muscular dystrophy-dystroglycanopathy , type c, 210.8
7muscular dystrophy-dystroglycanopathy , type c, 510.8

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:



Diseases related to muscular dystrophy-dystroglycanopathy  , type c, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Symptoms by clinical synopsis from OMIM:

609308

Clinical features from OMIM:

609308

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cardiomyopathy64 rare (5%) HP:0001638
2 microcephaly64 HP:0000252
3 intellectual disability64 HP:0001249
4 motor delay64 HP:0001270
5 flexion contracture64 HP:0001371
6 difficulty walking64 HP:0002355
7 lumbar hyperlordosis64 HP:0002938
8 elevated serum creatine phosphokinase64 HP:0003236
9 spinal rigidity64 HP:0003306
10 limb-girdle muscle weakness64 HP:0003325
11 easy fatigability64 HP:0003388
12 difficulty climbing stairs64 HP:0003551
13 muscular dystrophy64 HP:0003560

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C127
2 Limb-Girdle Muscular Dystrophy Type 2k24

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

36
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

70
id Symbol AA change Variation ID SNP ID
1POMT1p.Ala200ProVAR_022661rs119462982

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POMT1NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs)deletionPathogenicrs794727190GRCh37Chr 9, 134395539: 134395539
2POMT1NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter)SNVPathogenicrs794727208GRCh37Chr 9, 134396832: 134396832
3POMT1NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter)SNVPathogenicrs138902646GRCh37Chr 9, 134398412: 134398412
4POMT1NM_007171.3(POMT1): c.598G> C (p.Ala200Pro)SNVPathogenicrs119462982GRCh37Chr 9, 134385188: 134385188
5POMT1NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr)SNVPathogenicrs119462987GRCh37Chr 9, 134397547: 134397547
6POMT1NM_007171.3(POMT1): c.430A> G (p.Asn144Asp)SNVPathogenicrs397514501GRCh37Chr 9, 134384300: 134384300
7POMT1NM_007171.3(POMT1): c.1241C> T (p.Thr414Met)SNVPathogenicrs397515400GRCh37Chr 9, 134388718: 134388718

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 1.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet