MCID: MSC041
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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, 6

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 53 13 69
Mddga6 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 71
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related 53
Muscle-Eye-Brain Disease Large-Related 71
Walker-Warburg Syndrome Large-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset prenatally or at birth
four patients have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

OMIM : 53 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613154)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 6, is also known as mddga6, and has symptoms including hydrocephalus, intellectual disability and cataract. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include brain, eye and cerebellum.

UniProtKB/Swiss-Prot : 71 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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, 6

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
hydrocephalus
areflexia
mental retardation
ventricular dilatation
pontine hypoplasia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal:
contractures

Head And Neck Eyes:
cataract
optic atrophy
retinal dysplasia

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Skull:
widened anterior fontanelles


Clinical features from OMIM:

613154

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 intellectual disability 31 HP:0001249
3 cataract 31 HP:0000518
4 optic atrophy 31 HP:0000648
5 flexion contracture 31 HP:0001371
6 elevated serum creatine phosphokinase 31 HP:0003236
7 retinal dysplasia 31 HP:0007973
8 areflexia 31 HP:0001284
9 dandy-walker malformation 31 frequent (33%) HP:0001305
10 muscular dystrophy 31 HP:0003560
11 hypoplasia of the pons 31 HP:0012110
12 severe muscular hypotonia 31 HP:0006829
13 type ii lissencephaly 31 HP:0007260

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 28 LARGE1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

38
Brain, Eye, Cerebellum, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

71
# Symbol AA change Variation ID SNP ID
1 LARGE1 p.Ser331Phe VAR_065064 rs267607210
2 LARGE1 p.Trp495Arg VAR_065065 rs267607209
3 LARGE1 p.Cys443Tyr VAR_075304

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LARGE1 LARGE1, 63-KB DEL deletion Pathogenic
2 LARGE1 NM_004737.5(LARGE1): c.1483T> C (p.Trp495Arg) single nucleotide variant Pathogenic rs267607209 GRCh37 Chromosome 22, 33700462: 33700462
3 LARGE1 LARGE1, GLN87FS undetermined variant Pathogenic
4 LARGE1 NM_004737.5(LARGE1): c.992C> T (p.Ser331Phe) single nucleotide variant Pathogenic rs267607210 GRCh37 Chromosome 22, 33780191: 33780191

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 6.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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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