MDDGA14
MCID: MSC097
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 (MDDGA14) 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 14 54 29 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14 66
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 66
Mddga14 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 14:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 615350
MeSH 42 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

UniProtKB/Swiss-Prot : 66 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 ataxia, muscle weakness and intellectual disability. 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: 615350

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

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:

id Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14 11.6
2 muscular dystrophy-dystroglycanopathy , type a, 1 10.8

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

Symptoms by clinical synopsis from OMIM:

615350

Clinical features from OMIM:

615350

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 muscle weakness 32 HP:0001324
3 intellectual disability 32 HP:0001249
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 sensorineural hearing impairment 32 HP:0000407
7 intellectual disability, severe 32 HP:0010864
8 elevated serum creatine phosphokinase 32 HP:0003236
9 cleft palate 32 HP:0000175
10 feeding difficulties 32 HP:0011968
11 absent speech 32 HP:0001344
12 cerebellar hypoplasia 32 HP:0001321
13 oligohydramnios 32 HP:0001562
14 muscular dystrophy 32 HP:0003560
15 hypoplasia of the pons 32 HP:0012110

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


ataxia, muscle weakness

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

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

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

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, 14 29

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

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

39
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

66
id Symbol AA change Variation ID SNP ID
1 GMPPB p.Asp334Asn VAR_070148 rs397509422

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Pathogenic rs397509422 GRCh37 Chromosome 3, 49759268: 49759268
2 GMPPB NM_013334.3(GMPPB): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs397509423 GRCh37 Chromosome 3, 49760726: 49760726
3 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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