MCID: MSC108
MIFTS: 35

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 53 49 13 69
Lgmd2n 53 12 49 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 12 49 55 14
Mddgc2 53 12 71
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 53 49
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 12 71
Limb-Girdle Muscular Dystrophy Type 2n 49 71
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 28
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 71
Muscular Dystrophy, Limb-Girdle, Type 2n; Lgmd2n 53
Muscular Dystrophy-Dystroglycanopathy Type C 2 12
Muscular Dystrophy, Limb-Girdle, Type 2n 53
Mdgd2c 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2n
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in infancy
two patients have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset variable expressivity


Classifications:



External Ids:

OMIM 53 613158
Disease Ontology 12 DOID:0110298
ICD10 32 G71.0
Orphanet 55 ORPHA206559
ICD10 via Orphanet 33 G71.0
MedGen 39 C3150418
MeSH 41 D049288
UMLS 69 C3150418

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

OMIM : 53 MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (613158)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 2, also known as lgmd2n, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including motor delay, elevated serum creatine phosphokinase and muscular dystrophy. 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.

UniProtKB/Swiss-Prot : 71 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.

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.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 10.0 POMT1 POMT2
2 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 POMT1 POMT2
3 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 HNRNPDL POMT2 TRAPPC11
5 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 POMT1 POMT2
6 muscular dystrophy, limb-girdle, type 1h 9.7 HNRNPDL TNPO3
7 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 HNRNPDL TNPO3
8 muscular dystrophy, limb-girdle, type 2l 9.7 POMT1 POMT2 TRAPPC11
9 congenital muscular dystrophy with intellectual disability 9.7 GMPPB POMT1 POMT2
10 congenital muscular dystrophy with cerebellar involvement 9.7 GMPPB POMT1 POMT2
11 muscular dystrophy, limb-girdle, type 1b 9.7 HNRNPDL TNPO3
12 muscular dystrophy-dystroglycanopathy 9.6 GMPPB POMT1 POMT2
13 muscle eye brain disease 9.6 GMPPB POMT1 POMT2
14 muscular dystrophy, congenital, lmna-related 9.6 POMT1 POMT2
15 walker-warburg syndrome 9.6 GMPPB POMT1 POMT2
16 autosomal dominant limb-girdle muscular dystrophy type 1g 9.5 HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, type 2q 9.5 HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy, limb-girdle, type 1f 9.5 HNRNPDL TNPO3 TRAPPC11
19 autosomal recessive limb-girdle muscular dystrophy type 2e 9.4 HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy, limb-girdle, type 2w 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
21 muscular dystrophy-dystroglycanopathy , type c, 9 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
22 muscular dystrophy, limb-girdle, type 2r 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
23 muscular dystrophy-dystroglycanopathy , type c, 14 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy-dystroglycanopathy , type c, 7 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
25 muscular dystrophy-dystroglycanopathy , type c, 3 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
26 muscular dystrophy, limb-girdle, type 1e 9.1 GMPPB HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy-dystroglycanopathy , type c, 1 8.4 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
28 muscular dystrophy 8.3 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 via clinical synopsis from OMIM:

53
Cardiovascular Heart:
right bundle branch block (1 patient)

Neurologic Central Nervous System:
delayed motor development
decreased iq (1 patient)
normal cognition (1 patient)

Muscle Soft Tissue:
muscle weakness, proximal, mild
muscular dystrophy
muscle hypertrophy
decreased glycosylation of alpha-dystroglycan

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613158

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 motor delay 31 HP:0001270
2 elevated serum creatine phosphokinase 31 HP:0003236
3 muscular dystrophy 31 HP:0003560
4 proximal muscle weakness 31 HP:0003701
5 skeletal muscle hypertrophy 31 HP:0003712
6 right bundle branch block 31 occasional (7.5%) HP:0011712

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 28 POMT2

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

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

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh37 Chromosome 14, 77765840: 77765840
2 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh37 Chromosome 14, 77745192: 77745192
3 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh37 Chromosome 14, 77765031: 77765031
4 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
5 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
6 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh37 Chromosome 14, 77743729: 77743729
7 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh37 Chromosome 14, 77757715: 77757716
8 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
2 mannosylation GO:0097502 9.26 POMT1 POMT2
3 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
4 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
5 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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