MDDGA6
MCID: MSC041
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 (MDDGA6) 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, 6

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 70 27
Muscle-Eye-Brain Disease Large-Related 70
 
Walker-Warburg Syndrome Large-Related 70
Mddga6 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613154
MedGen37 C3150414
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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OMIM:52 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 hydrocephalus, cataract and optic atrophy. 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:70 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, 110.9

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Symptoms by clinical synopsis from OMIM:

613154

Clinical features from OMIM:

613154

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus64 HP:0000238
2 cataract64 HP:0000518
3 optic atrophy64 HP:0000648
4 intellectual disability64 HP:0001249
5 areflexia64 HP:0001284
6 dandy-walker malformation64 HP:0001305
7 flexion contracture64 HP:0001371
8 elevated serum creatine phosphokinase64 HP:0003236
9 muscular dystrophy64 HP:0003560
10 severe muscular hypotonia64 HP:0006829
11 type ii lissencephaly64 HP:0007260
12 retinal dysplasia64 HP:0007973
13 hypoplasia of the pons64 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 A627

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

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

36
Eye, Brain, Pons

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:

70
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_ 004737.5(LARGE1): c.1483T> C (p.Trp495Arg)SNVPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
3LARGE1LARGE, GLN87FSundetermined variantPathogenic
4LARGE1NM_ 004737.5(LARGE1): c.992C> T (p.Ser331Phe)SNVPathogenicrs267607210GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet