MCID: MSC097
MIFTS: 12

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

Description from OMIM:46 615350

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 14 46


Classifications:



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

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Symptoms by clinical synopsis from OMIM:

615350

Clinical features from OMIM:

615350

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

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cleft palate HP:0000175
3 microcephaly HP:0000252
4 sensorineural hearing impairment HP:0000407
5 intellectual disability HP:0001249
6 ataxia HP:0001251
7 global developmental delay HP:0001263
8 cerebellar hypoplasia HP:0001321
9 muscle weakness HP:0001324
10 absent speech HP:0001344
11 oligohydramnios HP:0001562
12 elevated serum creatine phosphokinase HP:0003236
13 muscular dystrophy HP:0003560
14 congenital onset HP:0003577
15 feeding difficulties HP:0011968
16 hypoplasia of the pons HP:0012110

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

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Drug clinical trials:

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

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

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

64
id Symbol AA change Variation ID SNP ID
1GMPPBp.Asp334AsnVAR_070148

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

6
id Gene Name Type Significance SNP ID Assembly Location
1GMPPBNM_013334.3(GMPPB): c.1081G> A (p.Asp361Asn)single nucleotide variantPathogenicrs397509422GRCh37Chr 3, 49759268: 49759268
2GMPPBNM_013334.3(GMPPB): c.220C> T (p.Arg74Ter)single nucleotide variantPathogenicrs397509423GRCh37Chr 3, 49760726: 49760726

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

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 14

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet