MCID: MSC038
MIFTS: 12

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

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

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

About this section

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 46 9


Classifications:



External Ids:

OMIM46 613152

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

About this section
OMIM:46 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).

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

About this section

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

About this section

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

About this section

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

About this section

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

About this section

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

About this section

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

About this section

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

About this section

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

63
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:

5
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

About this section
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

About this section

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

About this section

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

About this section

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet