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 52 27 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14 70
 
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 70
Mddga14 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 14:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 615350
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 microcephaly64 HP:0000252
3 sensorineural hearing impairment64 HP:0000407
4 intellectual disability64 HP:0001249
5 ataxia64 HP:0001251
6 global developmental delay64 HP:0001263
7 cerebellar hypoplasia64 HP:0001321
8 muscle weakness64 HP:0001324
9 absent speech64 HP:0001344
10 oligohydramnios64 HP:0001562
11 elevated serum creatine phosphokinase64 HP:0003236
12 muscular dystrophy64 HP:0003560
13 feeding difficulties64 HP:0011968
14 hypoplasia of the pons64 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, 1427

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

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

36
Eye, Brain, Pons

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet