MCID: MSC108
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal 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 49 11 45 65
Lgmd2n 45 22 51 67
Limb-Girdle Muscular Dystrophy Type 2n 45 22 67
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 45 51
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 67 24
Mddgc2 22 67
 
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 45
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 67
Muscular Dystrophy-Dystroglycanopathy Type C2 22
Lgmd 2n 22
Mdgd2c 67

Characteristics:

Orphanet epidemiological data:

51
lgmd2n:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity


Classifications:



External Ids:

OMIM49 613158
Orphanet51 206559
ICD10 via Orphanet28 G71.0
MedGen34 C3150418
MeSH36 D049288
UMLS65 C3150418

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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OMIM:49 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 eye and skeletal muscle.

UniProtKB/Swiss-Prot:67 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 Type 2n22

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

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

33
Eye, 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:

67
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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet