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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 66 29
Muscle-Eye-Brain Disease Large-Related 66
Walker-Warburg Syndrome Large-Related 66
Mddga6 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613154
MedGen 40 C3150414
MeSH 42 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

OMIM : 54 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, 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 eye, brain and pons.

UniProtKB/Swiss-Prot : 66 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, 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:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 10.9

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

Symptoms by clinical synopsis from OMIM:

613154

Clinical features from OMIM:

613154

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

32 (show all 13)
id 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 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:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 29

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

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

39
Eye, Brain, 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:

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 LARGE1 LARGE, 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 LARGE, 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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