MCID: MSC108
MIFTS: 15

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 malady

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Muscular Dystrophy-Dystroglycanopathy , Type C, 2, Aliases & Descriptions:

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


Classifications:



External Ids:

OMIM45 613158

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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OMIM:45 MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal... (613158) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type C, 2, also known as limb-girdle muscular dystrophy type 2n, is related to autosomal recessive limb-girdle muscular dystrophy type 2n, and has symptoms including right bundle branch block, autosomal recessive inheritance and motor delay. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (protein-O-mannosyltransferase 2).

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2n10.4

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Symptoms by clinical synopsis from OMIM:

613158

Clinical features from OMIM:

613158

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

(show all 9)
id Description Frequency HPO Source Accession
1 right bundle branch block rare (5%) HP:0011712
2 autosomal recessive inheritance HP:0000007
3 motor delay HP:0001270
4 elevated serum creatine phosphokinase HP:0003236
5 muscular dystrophy HP:0003560
6 infantile onset HP:0003593
7 proximal muscle weakness HP:0003701
8 muscle hypertrophy HP:0003712
9 variable expressivity HP:0003828

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2n20

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type C, 2 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

62
id Symbol AA change Variation ID SNP ID
1POMT2p.Thr184MetVAR_065037
2POMT2p.Trp748SerVAR_065049

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1006+5G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 14, 77765027: 77765027
2POMT2NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys)single nucleotide variantLikely pathogenicGRCh37Chr 14, 77765840: 77765840
3POMT2NM_013382.5(POMT2): c.551C> T (p.Thr184Met)single nucleotide variantPathogenicrs267606971GRCh37Chr 14, 77769283: 77769283
4POMT2NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser)single nucleotide variantPathogenicrs267606967GRCh37Chr 14, 77743729: 77743729

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 2.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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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