MCID: MSC038
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (fukutin).

Description from OMIM:46 613152

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Muscular Dystrophy-Dystroglycanopathy , Type B, 4, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 46


Classifications:



Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Symptoms by clinical synopsis from OMIM:

613152

Clinical features from OMIM:

613152

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 motor delay HP:0001270
3 elevated serum creatine phosphokinase HP:0003236
4 muscular dystrophy HP:0003560
5 infantile onset HP:0003593

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 4 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

64
id Symbol AA change Variation ID SNP ID
1FKTNp.Arg307GlnVAR_039288
2FKTNp.Arg246GlyVAR_065053

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

6
id Gene Name Type Significance SNP ID Assembly Location
1FKTNFKTN, 1-BP DEL, 42GdeletionPathogenic

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 4

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 4.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet