MCID: MSC097
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye diseases

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 14 51 26 67
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14 69
 
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 69
Mddga14 69

Characteristics:

HPO:

63
muscular dystrophy-dystroglycanopathy , type a, 14:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 615350
MeSH38 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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UniProtKB/Swiss-Prot:69 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 14, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a14, is related to congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14 and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including cleft palate, microcephaly and sensorineural hearing impairment. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Affiliated tissues include eye, brain and pons.

Description from OMIM:51 615350

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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 muscular dystrophy-dystroglycanopathy , type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.6
2muscular dystrophy-dystroglycanopathy , type a, 110.8

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Symptoms by clinical synopsis from OMIM:

615350

Clinical features from OMIM:

615350

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

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 cleft palate63 HP:0000175
2 microcephaly63 HP:0000252
3 sensorineural hearing impairment63 HP:0000407
4 intellectual disability63 HP:0001249
5 ataxia63 HP:0001251
6 global developmental delay63 HP:0001263
7 cerebellar hypoplasia63 HP:0001321
8 muscle weakness63 HP:0001324
9 absent speech63 HP:0001344
10 oligohydramnios63 HP:0001562
11 elevated serum creatine phosphokinase63 HP:0003236
12 muscular dystrophy63 HP:0003560
13 feeding difficulties63 HP:0011968
14 hypoplasia of the pons63 HP:0012110

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:


ataxia, muscle weakness

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

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Interventional clinical trials:

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

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

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 1426

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

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

35
Eye, Brain, 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:

69
id Symbol AA change Variation ID SNP ID
1GMPPBp.Asp334AsnVAR_070148rs397509422

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GMPPBNM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn)SNV, CompoundHeterozygotePathogenicrs397509422GRCh37Chr 3, 49759268: 49759268
2GMPPBNM_013334.3(GMPPB): c.220C> T (p.Arg74Ter)SNVPathogenicrs397509423GRCh37Chr 3, 49760726: 49760726
3GMPPBNM_021971.2(GMPPB): c.553C> T (p.Arg185Cys)SNVPathogenicrs397509425GRCh37Chr 3, 49760037: 49760037

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

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet