MCID: MSC097
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 malady

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

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 autosomal recessive inheritance, cleft palate and microcephaly. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14 is GMPPB (GDP-mannose pyrophosphorylase B). Affiliated tissues include pons.

Description from OMIM:45 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 45


Classifications:



External Ids:

OMIM45 615350

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:

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

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

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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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

31
Pons

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:

62
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 Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet