MCID: MSC099
MIFTS: 16

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases, Cardiovascular diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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OMIM:47 MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in... (615351) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 and has symptoms including strabismus, ptosis and cataract. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-mannose pyrophosphorylase B).

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Muscular Dystrophy-Dystroglycanopathy , Type B, 14, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 47


Classifications:



External Ids:

OMIM47 615351

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Symptoms by clinical synopsis from OMIM:

615351

Clinical features from OMIM:

615351

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

(show all 19)
id Description Frequency HPO Source Accession
1 strabismus rare (5%) HP:0000486
2 ptosis rare (5%) HP:0000508
3 cataract rare (5%) HP:0000518
4 nystagmus rare (5%) HP:0000639
5 seizures rare (5%) HP:0001250
6 cerebellar hypoplasia rare (5%) HP:0001321
7 flexion contracture rare (5%) HP:0001371
8 prolonged qt interval rare (5%) HP:0001657
9 autosomal recessive inheritance HP:0000007
10 microcephaly HP:0000252
11 global developmental delay HP:0001263
12 absent speech HP:0001344
13 decreased fetal movement HP:0001558
14 myopathic facies HP:0002058
15 poor head control HP:0002421
16 elevated serum creatine phosphokinase HP:0003236
17 muscular dystrophy HP:0003560
18 variable expressivity HP:0003828
19 feeding difficulties HP:0011968

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 14 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

64
id Symbol AA change Variation ID SNP ID
1GMPPBp.Pro32LeuVAR_070144
2GMPPBp.Arg185CysVAR_070145
3GMPPBp.Arg287GlnVAR_070146

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

7
id Gene Variation Type Significance SNP ID Assembly Location
1GMPPBNM_013334.3(GMPPB): c.95C> T (p.Pro32Leu)single nucleotide variantPathogenicrs397509426GRCh37Chr 3, 49761065: 49761065
2GMPPBNM_013334.3(GMPPB): c.860G> A (p.Arg287Gln)single nucleotide variantPathogenicrs202160208GRCh37Chr 3, 49759489: 49759489

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 14.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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  • Antibodies
  • Proteins
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  • Antibodies
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  • Kits and Assays

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet