MCID: MSC041
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 malady

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 50 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 68 25
Muscle-Eye-Brain Disease Large-Related 68
 
Walker-Warburg Syndrome Large-Related 68
Mddga6 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613154
MedGen35 C3150414
MeSH37 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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OMIM:50 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more... (613154) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 6, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a6, is related to muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including dandy-walker malformation, hydrocephalus and cataract. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye, brain and pons.

UniProtKB/Swiss-Prot:68 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

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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, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 110.0

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Symptoms by clinical synopsis from OMIM:

613154

Clinical features from OMIM:

613154

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

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

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A625

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

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

34
Eye, Brain, Pons

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 6 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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

68
id Symbol AA change Variation ID SNP ID
1LARGE1p.Ser331PheVAR_065064rs267607210
2LARGE1p.Trp495ArgVAR_065065rs267607209
3LARGE1p.Cys443TyrVAR_075304

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LARGE1LARGE, 63-KB DELdeletionPathogenic
2LARGE1NM_004737.4(LARGE1): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
3LARGE1LARGE, GLN87FSundetermined variantPathogenic
4LARGE1NM_004737.4(LARGE1): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet