MCID: MSC034
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Eye diseases, Fetal 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 49 11 65
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 67 24
Muscle-Eye-Brain Disease Fkrp-Related 67
 
Walker-Warburg Syndrome Fkrp-Related 67
Mddga5 67

Characteristics:

HPO:

61
muscular dystrophy-dystroglycanopathy , type a, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset
Mortality/Aging: death in childhood


Classifications:



External Ids:

OMIM49 613153
MedGen34 C3150413
MeSH36 D058494
UMLS65 C3150413

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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OMIM:49 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:67 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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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1FKRPp.Tyr307AsnVAR_022850
2FKRPp.Cys318TyrVAR_022852

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.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet