MCID: MSC034
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 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, 5

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 50 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 68 25
Muscle-Eye-Brain Disease Fkrp-Related 68
 
Walker-Warburg Syndrome Fkrp-Related 68
Mddga5 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type a, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM50 613153
MedGen35 C3150413
MeSH37 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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OMIM:50 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more... (613153) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 5, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5, is related to fkrp-related muscle diseases and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including hydrocephalus, retinal detachment and myopia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5 is FKRP (Fukutin Related Protein). Affiliated tissues include eye, brain and pons.

UniProtKB/Swiss-Prot:68 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5: 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, 5

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

idRelated DiseaseScoreTop Affiliating Genes
1fkrp-related muscle diseases11.5
2muscular dystrophy-dystroglycanopathy , type a, 110.0

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Symptoms by clinical synopsis from OMIM:

613153

Clinical features from OMIM:

613153

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

(show all 21)
id Description Frequency HPO Source Accession
1 hydrocephalus HP:0000238
2 retinal detachment HP:0000541
3 myopia HP:0000545
4 microphthalmia HP:0000568
5 coloboma HP:0000589
6 motor delay HP:0001270
7 pachygyria HP:0001302
8 dandy-walker malformation HP:0001305
9 cerebellar hypoplasia HP:0001321
10 left ventricular hypertrophy HP:0001712
11 respiratory insufficiency HP:0002093
12 intellectual disability, profound HP:0002187
13 hypoplasia of the brainstem HP:0002365
14 abnormality of the cerebral white matter HP:0002500
15 elevated serum creatine phosphokinase HP:0003236
16 muscular dystrophy HP:0003560
17 severe muscular hypotonia HP:0006829
18 cerebellar dysplasia HP:0007033
19 type ii lissencephaly HP:0007260
20 corneal opacity HP:0007957
21 hypoplasia of the pons HP:0012110

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A525

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

34
Eye, Brain, Pons

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 5 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

68
id Symbol AA change Variation ID SNP ID
1FKRPp.Tyr307AsnVAR_022850rs104894692
2FKRPp.Cys318TyrVAR_022852rs104894684

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs587777223GRCh38Chr 19, 46755451: 46755451
2FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
3FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
4FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
5FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660
6FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)single nucleotide variantPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094
7FKRPNM_024301.4(FKRP): c.941C> T (p.Thr314Met)single nucleotide variantLikely pathogenic, Pathogenicrs398124395GRCh37Chr 19, 47259648: 47259648

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 5.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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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