MCID: MSC108
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 malady

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50 12 66
Lgmd2n 23 52 68
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 68 25
Limb-Girdle Muscular Dystrophy Type 2n 23 68
Mddgc2 23 68
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 68
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 52
Muscular Dystrophy-Dystroglycanopathy Type C2 23
Lgmd 2n 23
Mdgd2c 68

Characteristics:

Orphanet epidemiological data:

52
lgmd2n:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity


Classifications:



External Ids:

OMIM50 613158
Orphanet52 ORPHA206559
ICD10 via Orphanet29 G71.0
MedGen35 C3150418
MeSH37 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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OMIM:50 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 lgmd2n, is related to muscular dystrophy, limb-girdle, type 2a and muscular dystrophy-dystroglycanopathy , type c, 1, and has symptoms including right bundle branch block, motor delay and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:68 Muscular dystrophy-dystroglycanopathy limb-girdle C2: An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal.

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, 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
1muscular dystrophy, limb-girdle, type 2a10.0
2muscular dystrophy-dystroglycanopathy , type c, 110.0

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 6)
id Description Frequency HPO Source Accession
1 right bundle branch block rare (5%) HP:0011712
2 motor delay HP:0001270
3 elevated serum creatine phosphokinase HP:0003236
4 muscular dystrophy HP:0003560
5 proximal muscle weakness HP:0003701
6 skeletal muscle hypertrophy HP:0003712

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

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Interventional clinical trials:

Search ClinicalTrials, 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-Dystroglycanopathy, Type C225
2 Limb-Girdle Muscular Dystrophy Type 2n23

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

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

34
Skeletal muscle

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:

68
id Symbol AA change Variation ID SNP ID
1POMT2p.Thr184MetVAR_065037rs267606971
2POMT2p.Trp748SerVAR_065049rs267606967

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1006+5G> Asingle nucleotide variantLikely pathogenicrs587780422GRCh37Chr 14, 77765027: 77765027
2POMT2NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys)single nucleotide variantLikely pathogenicrs587780423GRCh37Chr 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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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet