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 52 48 12 68
Lgmd2n 11 48 24 54 70
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 11 48 54
Limb-Girdle Muscular Dystrophy Type 2n 48 24 70
Mddgc2 11 24 70
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 11 70
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 70 27
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 48
Muscular Dystrophy-Dystroglycanopathy Type C 2 11
Muscular Dystrophy-Dystroglycanopathy Type C2 24
Lgmd 2n 24
Mdgd2c 70

Characteristics:

Orphanet epidemiological data:

54
lgmd2n:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:



External Ids:

OMIM52 613158
Disease Ontology11 DOID:0110298
ICD1030 G71.0
Orphanet54 ORPHA206559
ICD10 via Orphanet31 G71.0
MedGen37 C3150418
MeSH39 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 right bundle branch block64 rare (5%) HP:0011712
2 motor delay64 HP:0001270
3 elevated serum creatine phosphokinase64 HP:0003236
4 muscular dystrophy64 HP:0003560
5 proximal muscle weakness64 HP:0003701
6 skeletal muscle hypertrophy64 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 C227
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:

36
Skeletal muscle

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet