MCID: MSC097
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 14 53 28 69
Mddga14 53 71
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14 71
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gmppb-Related 53
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient has been reported (last curated july 2013)


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 14:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

UniProtKB/Swiss-Prot : 71 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, is also known as mddga14, 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 brain, eye 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
absent speech
cerebellar hypoplasia
mental retardation, severe
delayed psychomotor development
more
Head And Neck Head:
microcephaly

Abdomen Gastroin testinal:
feeding difficulties

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Eyes:
retinal dysfunction

Muscle Soft Tissue:
muscle weakness
muscular dystrophy
hypoglycosylation of alpha-dystroglycan seen on muscle biopsy
increased muscle tone at birth

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615350

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 muscle weakness 31 HP:0001324
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 sensorineural hearing impairment 31 HP:0000407
7 intellectual disability, severe 31 HP:0010864
8 elevated serum creatine phosphokinase 31 HP:0003236
9 cleft palate 31 HP:0000175
10 feeding difficulties 31 HP:0011968
11 absent speech 31 HP:0001344
12 cerebellar hypoplasia 31 HP:0001321
13 oligohydramnios 31 HP:0001562
14 muscular dystrophy 31 HP:0003560
15 hypoplasia of the pons 31 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:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 14 28 GMPPB

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

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

38
Brain, Eye, 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:

71
# 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
# 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/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
4 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
5 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
6 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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