MDDGC2
MCID: MSC108
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 (MDDGC2) 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 54 50 13 69
Lgmd2n 12 50 24 56 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 12 50 56 14
Limb-Girdle Muscular Dystrophy Type 2n 50 24 66
Mddgc2 12 24 66
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 12 66
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 66 29
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 50
Muscular Dystrophy-Dystroglycanopathy Type C 2 12
Muscular Dystrophy-Dystroglycanopathy Type C2 24
Lgmd 2n 24
Mdgd2c 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2n
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 54 613158
Disease Ontology 12 DOID:0110298
ICD10 33 G71.0
Orphanet 56 ORPHA206559
ICD10 via Orphanet 34 G71.0
MedGen 40 C3150418
MeSH 42 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

OMIM : 54 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 elevated serum creatine phosphokinase, skeletal muscle hypertrophy and motor delay. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include skeletal muscle.

Disease Ontology : 12 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 : 66 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

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:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2a 10.9
2 muscular dystrophy-dystroglycanopathy , type c, 1 10.8
3 chronic atrial and intestinal dysrhythmia 10.0 HNRNPDL TNPO3
4 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.0 HNRNPDL TNPO3
5 mandibuloacral dysplasia 10.0 HNRNPDL TNPO3
6 dermatofibrosarcoma protuberans 10.0 POMT1 POMT2
7 muscular dystrophy, limb-girdle, type 1b 10.0 POMT1 POMT2
8 nephronophthisis 2, infantile 9.9 HNRNPDL POMT2 TRAPPC11
9 cone-rod dystrophy, prph2-related 9.9 POMT1 POMT2
10 dentinogenesis imperfecta, shields type iii 9.9 HNRNPDL TNPO3 TRAPPC11
11 cornelia de lange syndrome 4 9.9 HNRNPDL TNPO3 TRAPPC11
12 hypospadias 3, autosomal 9.9 HNRNPDL TNPO3 TRAPPC11
13 deafness, autosomal recessive 18b 9.9 POMT1 POMT2 TRAPPC11
14 glycogen storage disease 0, muscle 9.8 POMT1 POMT2
15 alk-positive large b-cell lymphoma 9.8 GMPPB POMT1 POMT2
16 hydroa vacciniforme-like lymphoma 9.7 GMPPB POMT1 POMT2
17 asphyxiating thoracic dystrophy 9.7 GMPPB POMT1 POMT2
18 myasthenia gravis, limb-girdle 9.7 GMPPB POMT1 POMT2
19 autosomal dominant nonsyndromic deafness 9.7 GMPPB POMT1 POMT2
20 hypertrophic cardiomyopathy 21 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
21 spinal muscular atrophy, distal, autosomal recessive, 5 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
22 muscular dystrophy-dystroglycanopathy , type b, 14 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
23 rheumatoid arthritis, systemic juvenile 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy-dystroglycanopathy , type a, 9 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
25 orofacial cleft 13 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
26 short-rib thoracic dysplasia 8 with or without polydactyly 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
27 epileptic encephalopathy, early infantile, 4 9.2 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
28 dementia, frontotemporal 9.2 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 2

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Symptoms by clinical synopsis from OMIM:

613158

Clinical features from OMIM:

613158

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 skeletal muscle hypertrophy 32 HP:0003712
3 motor delay 32 HP:0001270
4 muscular dystrophy 32 HP:0003560
5 right bundle branch block 32 HP:0011712
6 proximal muscle weakness 32 HP:0003701

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

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 29
2 Limb-Girdle Muscular Dystrophy Type 2n 24

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

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

39
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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

66
id Symbol AA change Variation ID SNP ID
1 POMT2 p.Thr184Met VAR_065037 rs267606971
2 POMT2 p.Trp748Ser VAR_065049 rs267606967

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh37 Chromosome 14, 77745192: 77745192
2 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh37 Chromosome 14, 77765031: 77765031
3 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh37 Chromosome 14, 77743729: 77743729
4 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh37 Chromosome 14, 77765840: 77765840
5 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh37 Chromosome 14, 77757715: 77757716
6 POMT2 NM_013382.5(POMT2): c.1658dupA (p.Asn553Lysfs) duplication Pathogenic rs886043110 GRCh37 Chromosome 14, 77746802: 77746802

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.37 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
3 mannosylation GO:0097502 9.26 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
5 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
6 positive regulation of protein O-linked glycosylation GO:1904100 8.62 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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