MCID: MSC041
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare 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 57 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 29 6
Mddga6 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related 57
Muscle-Eye-Brain Disease Large-Related 75
Walker-Warburg Syndrome Large-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

OMIM : 57 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 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a6. 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, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 intellectual disability 32 HP:0001249
3 cataract 32 HP:0000518
4 optic atrophy 32 HP:0000648
5 flexion contracture 32 HP:0001371
6 elevated serum creatine phosphokinase 32 HP:0003236
7 retinal dysplasia 32 HP:0007973
8 areflexia 32 HP:0001284
9 dandy-walker malformation 32 frequent (33%) HP:0001305
10 muscular dystrophy 32 HP:0003560
11 hypoplasia of the pons 32 HP:0012110
12 severe muscular hypotonia 32 HP:0006829
13 type ii lissencephaly 32 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 29 LARGE1

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

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

41
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:

75
# 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 NM_004737.5(LARGE1): c.1483T> C (p.Trp495Arg) single nucleotide variant Pathogenic rs267607209 GRCh38 Chromosome 22, 33304476: 33304476
4 LARGE1 LARGE1, GLN87FS undetermined variant Pathogenic
5 LARGE1 NM_004737.5(LARGE1): c.992C> T (p.Ser331Phe) single nucleotide variant Pathogenic rs267607210 GRCh37 Chromosome 22, 33780191: 33780191
6 LARGE1 NM_004737.5(LARGE1): c.992C> T (p.Ser331Phe) single nucleotide variant Pathogenic rs267607210 GRCh38 Chromosome 22, 33384205: 33384205
7 LARGE1 NM_004737.5(LARGE1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs761071115 GRCh37 Chromosome 22, 34046478: 34046478
8 LARGE1 NM_004737.5(LARGE1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs761071115 GRCh38 Chromosome 22, 33650492: 33650492

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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