MDDGC8
MCID: MSC188
MIFTS: 22

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 57 29 6
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt2-Related 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24 57 72
Lgmdr24 57 72
Mddgc8 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24; Lgmdr24 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C8 72
Muscular Dystrophy-Dystroglycanopathy Type C, 8 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618135
OMIM Phenotypic Series 57 PS253600 PS609308
MeSH 44 D049288

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) (Updated 20-May-2021)

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, and related phenotypes are delayed speech and language development and motor delay

UniProtKB/Swiss-Prot : 72 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
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

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

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 very rare (1%) HP:0000750
2 motor delay 31 very rare (1%) HP:0001270
3 elevated serum creatine kinase 31 HP:0003236
4 calf muscle hypertrophy 31 HP:0008981
5 gowers sign 31 HP:0003391

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 8:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 8 29 POMGNT2

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

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

40
Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

# Title Authors PMID Year
1
Milder forms of muscular dystrophy associated with POMGNT2 mutations. 6 57
27066570 2015
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57
17878207 2007

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT2 NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) SNV Pathogenic 545449 rs374042455 GRCh37: 3:43122166-43122166
GRCh38: 3:43080674-43080674
2 POMGNT2 NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr) SNV Pathogenic 565308 rs1559414655 GRCh37: 3:43122430-43122430
GRCh38: 3:43080938-43080938
3 POMGNT2 NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn) SNV Pathogenic 627559 rs768063378 GRCh37: 3:43122413-43122413
GRCh38: 3:43080921-43080921

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

72
# Symbol AA change Variation ID SNP ID
1 POMGNT2 p.Met165Thr VAR_081560
2 POMGNT2 p.Pro253Leu VAR_081562 rs374042455

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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