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

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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 13
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 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 are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. 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:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2muscular dystrophy-dystroglycanopathy , type c, 110.8
3chronic atrial and intestinal dysrhythmia10.0HNRNPDL, TNPO3
4osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.0HNRNPDL, TNPO3
5mandibuloacral dysplasia10.0HNRNPDL, TNPO3
6dermatofibrosarcoma protuberans10.0POMT1, POMT2
7muscular dystrophy, limb-girdle, type 1b10.0POMT1, POMT2
8nephronophthisis 2, infantile9.9HNRNPDL, POMT2, TRAPPC11
9cone-rod dystrophy, prph2-related9.9POMT1, POMT2
10dentinogenesis imperfecta, shields type iii9.9HNRNPDL, TNPO3, TRAPPC11
11cornelia de lange syndrome 49.9HNRNPDL, TNPO3, TRAPPC11
12hypospadias 3, autosomal9.9HNRNPDL, TNPO3, TRAPPC11
13deafness, autosomal recessive 18b9.9POMT1, POMT2, TRAPPC11
14glycogen storage disease 0, muscle9.8POMT1, POMT2
15alk-positive large b-cell lymphoma9.8GMPPB, POMT1, POMT2
16hydroa vacciniforme-like lymphoma9.7GMPPB, POMT1, POMT2
17asphyxiating thoracic dystrophy9.7GMPPB, POMT1, POMT2
18myasthenia gravis, limb-girdle9.7GMPPB, POMT1, POMT2
19autosomal dominant nonsyndromic deafness9.7GMPPB, POMT1, POMT2
20hypertrophic cardiomyopathy 219.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
21spinal muscular atrophy, distal, autosomal recessive, 59.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
22muscular dystrophy-dystroglycanopathy , type b, 149.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
23rheumatoid arthritis, systemic juvenile9.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
24muscular dystrophy-dystroglycanopathy , type a, 99.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
25orofacial cleft 139.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
26short-rib thoracic dysplasia 8 with or without polydactyly9.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
27epileptic encephalopathy, early infantile, 49.2GMPPB, HNRNPDL, POMT1, POMT2, TNPO3, TRAPPC11
28dementia, frontotemporal9.2GMPPB, 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

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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 motor delay64 HP:0001270
2 elevated serum creatine phosphokinase64 HP:0003236
3 muscular dystrophy64 HP:0003560
4 proximal muscle weakness64 HP:0003701
5 skeletal muscle hypertrophy64 HP:0003712
6 right bundle branch block64 HP:0011712

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.881A> G (p.Tyr294Cys)SNVLikely pathogenicrs587780423GRCh37Chr 14, 77765840: 77765840
2POMT2NM_ 013382.5(POMT2): c.1124_ 1125insAC (p.Tyr376Profs)insertionPathogenicrs886042401GRCh37Chr 14, 77757715: 77757716
3POMT2NM_ 013382.5(POMT2): c.1658dupA (p.Asn553Lysfs)duplicationPathogenicrs886043110GRCh37Chr 14, 77746802: 77746802
4POMT2NM_ 013382.5(POMT2): c.1912C> T (p.Arg638Ter)SNVPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
5POMT2NM_ 013382.5(POMT2): c.1006+1G> ASNVPathogenicrs533916138GRCh37Chr 14, 77765031: 77765031
6POMT2NM_ 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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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4POMT1, POMT2
29.4POMT1, POMT2

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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

idNameGO IDScoreTop Affiliating Genes
1ER-associated misfolded protein catabolic processGO:007171210.0POMT1, POMT2
2mannosylationGO:009750210.0POMT1, POMT2
3positive regulation of protein O-linked glycosylationGO:190410010.0POMT1, POMT2
4protein glycosylationGO:00064869.9POMT1, POMT2
5protein O-linked glycosylationGO:00064939.7POMT1, POMT2
6protein O-linked mannosylationGO:00352699.4POMT1, POMT2

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

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00041699.4POMT1, POMT2

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