MDDGC8
MCID: MSC188
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type C, 8 (MDDGC8)

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 58 6
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt2-Related 58 76
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24 58 76
Lgmdr24 58 76
Mddgc8 58 76
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24; Lgmdr24 58
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C8 76
Muscular Dystrophy-Dystroglycanopathy Type C, 8 58

Characteristics:

OMIM:

58
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 58 618135
MeSH 45 D049288
MedGen 43 CN253928

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

OMIM : 58 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 brain and eye, and related phenotypes are delayed speech and language development and motor delay

UniProtKB/Swiss-Prot : 76 Muscular dystrophy-dystroglycanopathy limb-girdle C8: An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic.

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

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

33
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 33 very rare (1%) HP:0000750
2 motor delay 33 very rare (1%) HP:0001270
3 gowers sign 33 HP:0003391
4 calf muscle hypertrophy 33 HP:0008981

Symptoms via clinical synopsis from OMIM:

58
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:

42
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

# Title Authors Year
1
Milder forms of muscular dystrophy associated with POMGNT2 mutations. ( 27066570 )
2015

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

76
# Symbol AA change Variation ID SNP ID
1 POMGNT2 p.Met165Thr VAR_081560
2 POMGNT2 p.Pro253Leu VAR_081562

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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