MCID: MSC034
MIFTS: 18

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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OMIM:46 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 and has symptoms including autosomal recessive inheritance, hydrocephalus and retinal detachment. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5 is FKRP (fukutin related protein). Affiliated tissues include eye and brain.

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 46


Classifications:



Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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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 23)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hydrocephalus HP:0000238
3 retinal detachment HP:0000541
4 myopia HP:0000545
5 microphthalmos HP:0000568
6 coloboma HP:0000589
7 motor delay HP:0001270
8 pachygyria HP:0001302
9 dandy-walker malformation HP:0001305
10 cerebellar hypoplasia HP:0001321
11 left ventricular hypertrophy HP:0001712
12 respiratory insufficiency HP:0002093
13 intellectual disability, profound HP:0002187
14 hypoplasia of the brainstem HP:0002365
15 abnormality of the cerebral white matter HP:0002500
16 elevated serum creatine phosphokinase HP:0003236
17 muscular dystrophy HP:0003560
18 congenital onset HP:0003577
19 severe muscular hypotonia HP:0006829
20 cerebellar dysplasia HP:0007033
21 type ii lissencephaly HP:0007260
22 corneal opacity HP:0007957
23 hypoplasia of the pons HP:0012110

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

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Drug clinical trials:

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Search 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:

32
Eye, Brain

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:

63
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:

7
id Gene Name Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh38Chr 19, 46755451: 46755451
2FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
3FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660

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

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 5

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet