MCID: MSC038
MIFTS: 21

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 49 11
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 67
 
Muscular Dystrophy Congenital Fktn-Related 67
Mddgb4 67


Classifications:



External Ids:

OMIM49 613152
MedGen34 C2751052
MeSH36 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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OMIM:49 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, also known as muscular dystrophy-dystroglycanopathy congenital without mental retardation b4, is related to muscular dystrophy-dystroglycanopathy , type b, 1, and has symptoms including autosomal recessive inheritance, muscular hypotonia and motor delay. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (Fukutin). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot:67 Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4: An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation.

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

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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 B, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 110.1

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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscular hypotonia HP:0001252
3 motor delay HP:0001270
4 elevated serum creatine phosphokinase HP:0003236
5 infantile onset HP:0003593
6 congenital muscular dystrophy HP:0003741

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

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Interventional clinical trials:

Search ClinicalTrials, 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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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

33
Brain, Eye

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:

67
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

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

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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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