MCID: MSC104
MIFTS: 17

Muscular Dystrophy-Dystroglycanopathy , Type C, 1 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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OMIM:45 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 limb-girdle muscular dystrophy type 2k, is related to autosomal recessive limb-girdle muscular dystrophy type 2k, and has symptoms including cardiomyopathy, autosomal recessive inheritance and microcephaly. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (protein-O-mannosyltransferase 1). Affiliated tissues include eye and brain.

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 45 10
 
Limb-Girdle Muscular Dystrophy Type 2k 20


Classifications:



External Ids:

OMIM45 609308

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, 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
1autosomal recessive limb-girdle muscular dystrophy type 2k10.8

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Symptoms by clinical synopsis from OMIM:

609308

Clinical features from OMIM:

609308

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

(show all 17)
id Description Frequency HPO Source Accession
1 cardiomyopathy rare (5%) HP:0001638
2 autosomal recessive inheritance HP:0000007
3 microcephaly HP:0000252
4 intellectual disability HP:0001249
5 motor delay HP:0001270
6 flexion contracture HP:0001371
7 difficulty walking HP:0002355
8 lumbar hyperlordosis HP:0002938
9 elevated serum creatine phosphokinase HP:0003236
10 spinal rigidity HP:0003306
11 limb-girdle muscle weakness HP:0003325
12 easy fatigability HP:0003388
13 difficulty climbing stairs HP:0003551
14 muscular dystrophy HP:0003560
15 infantile onset HP:0003593
16 slow progression HP:0003677
17 variable expressivity HP:0003828

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

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Search 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 Type 2k20

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

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

31
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type C, 1 or affiliated genes

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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:

62
id Symbol AA change Variation ID SNP ID
1POMT1p.Ala200ProVAR_022661

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1POMT1NM_007171.3(POMT1): c.598G> C (p.Ala200Pro)single nucleotide variantPathogenicrs119462982GRCh37Chr 9, 134385188: 134385188
2POMT1NM_007171.3(POMT1): c.430A> G (p.Asn144Asp)single nucleotide variantPathogenicrs397514501GRCh37Chr 9, 134384300: 134384300
3POMT1NM_007171.3(POMT1): c.1241C> T (p.Thr414Met)single nucleotide variantPathogenicrs397515400GRCh37Chr 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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Compounds 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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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet