MCID: MSC108
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 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, 2

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 51 47 12 67
Lgmd2n 11 47 24 53 69
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 11 47 53
Limb-Girdle Muscular Dystrophy Type 2n 47 24 69
Mddgc2 11 24 69
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 11 69
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 69 26
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 47
Muscular Dystrophy-Dystroglycanopathy Type C 2 11
Muscular Dystrophy-Dystroglycanopathy Type C2 24
Lgmd 2n 24
Mdgd2c 69

Characteristics:

Orphanet epidemiological data:

53
lgmd2n:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

63
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:



External Ids:

OMIM51 613158
Disease Ontology11 DOID:0110298
ICD1029 G71.0
Orphanet53 ORPHA206559
ICD10 via Orphanet30 G71.0
MedGen36 C3150418
MeSH38 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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OMIM:51 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.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

UniProtKB/Swiss-Prot:69 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 2a10.9
2muscular dystrophy-dystroglycanopathy , type c, 110.8

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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Symptoms by clinical synopsis from OMIM:

613158

Clinical features from OMIM:

613158

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

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 right bundle branch block63 rare (5%) HP:0011712
2 motor delay63 HP:0001270
3 elevated serum creatine phosphokinase63 HP:0003236
4 muscular dystrophy63 HP:0003560
5 proximal muscle weakness63 HP:0003701
6 skeletal muscle hypertrophy63 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 C226
2 Limb-Girdle Muscular Dystrophy Type 2n24

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

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

35
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:

69
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> ASNVLikely pathogenicrs587780422GRCh38Chr 14, 77298684: 77298684
2POMT2NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys)SNVLikely pathogenicrs587780423GRCh38Chr 14, 77299497: 77299497
3POMT2NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs)insertionPathogenicrs886042401GRCh37Chr 14, 77757715: 77757716
4POMT2NM_013382.5(POMT2): c.1658dupA (p.Asn553Lysfs)duplicationPathogenicrs886043110GRCh37Chr 14, 77746802: 77746802
5POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)SNVPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
6POMT2NM_013382.5(POMT2): c.1006+1G> ASNVPathogenicrs533916138GRCh37Chr 14, 77765031: 77765031
7POMT2NM_013382.5(POMT2): c.551C> T (p.Thr184Met)SNVPathogenicrs267606971GRCh37Chr 14, 77769283: 77769283
8POMT2NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser)SNVPathogenicrs267606967GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet