MCID: MSC188
MIFTS: 18

Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 8 57 6
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt2-Related 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24; Lgmdr24 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24 57
Muscular Dystrophy-Dystroglycanopathy Type C, 8 57
Lgmdr24 57
Mddgc8 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
highly variable phenotype and severity
some patients may be clinically asymptomatic
three unrelated japanese patients have been reported (last curated september 2018)


Classifications:



External Ids:

OMIM 57 618135

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

OMIM : 57 MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by Endo et al., 2015). The disorder 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). (618135)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 8, is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 8 is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)). Affiliated tissues include eye.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
gowers sign
calf hypertrophy
abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy
muscle weakness, proximal (lower and upper limbs may be affected)
variable dystrophic changes seen on muscle biopsy
more
Neurologic Central Nervous System:
delayed motor development (in some patients)
impaired intellectual development (in some patients)
delayed speech (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

618135

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

41
Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT2 NM_032806.5(POMGNT2): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs374042455 GRCh37 Chromosome 3, 43122166: 43122166
2 POMGNT2 NM_032806.5(POMGNT2): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs374042455 GRCh38 Chromosome 3, 43080674: 43080674
3 POMGNT2 NM_032806.5(POMGNT2): c.494T> C (p.Met165Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 43122430: 43122430
4 POMGNT2 NM_032806.5(POMGNT2): c.494T> C (p.Met165Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 43080938: 43080938

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 8.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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