MCID: MSC038
MIFTS: 15

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases, Cardiovascular diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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OMIM:47 MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders... (613152) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 and has symptoms including autosomal recessive inheritance, motor delay and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (fukutin).

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 47 11


Classifications:



External Ids:

OMIM47 613152

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:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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:

7
id Gene Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet