MCID: MSC034
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 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, 5

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 70 27
Muscle-Eye-Brain Disease Fkrp-Related 70
 
Walker-Warburg Syndrome Fkrp-Related 70
Mddga5 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 613153
MedGen37 C3150413
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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OMIM:52 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:70 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 diseases11.3
2muscular dystrophy-dystroglycanopathy , type a, 110.9

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Symptoms by clinical synopsis from OMIM:

613153

Clinical features from OMIM:

613153

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

 64 (show all 21)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus64 HP:0000238
2 retinal detachment64 HP:0000541
3 myopia64 HP:0000545
4 microphthalmia64 HP:0000568
5 coloboma64 HP:0000589
6 motor delay64 HP:0001270
7 pachygyria64 HP:0001302
8 dandy-walker malformation64 HP:0001305
9 cerebellar hypoplasia64 HP:0001321
10 left ventricular hypertrophy64 HP:0001712
11 respiratory insufficiency64 HP:0002093
12 intellectual disability, profound64 HP:0002187
13 hypoplasia of the brainstem64 HP:0002365
14 abnormality of the cerebral white matter64 HP:0002500
15 elevated serum creatine phosphokinase64 HP:0003236
16 muscular dystrophy64 HP:0003560
17 severe muscular hypotonia64 HP:0006829
18 cerebellar dysplasia64 HP:0007033
19 type ii lissencephaly64 HP:0007260
20 corneal opacity64 HP:0007957
21 hypoplasia of the pons64 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 A527

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

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

36
Eye, Brain, Pons

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:

70
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)SNVPathogenicrs587777223GRCh38Chr 19, 46755451: 46755451
2FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)SNV, Phase unknownPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
3FKRPNM_024301.4(FKRP): c.402_403delGG (p.Ala135Terfs)deletionLikely pathogenicrs886041004GRCh38Chr 19, 46755852: 46755853
4FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)SNVPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
5FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)SNVPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660
6FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)SNVPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094
7FKRPNM_024301.4(FKRP): c.941C> T (p.Thr314Met)SNVPathogenicrs398124395GRCh37Chr 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
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