MCID: MSC038
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Metabolic diseases, Rare diseases, Fetal diseases, Eye diseases

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 50 12
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 68 25
 
Muscular Dystrophy Congenital Fktn-Related 68
Mddgb4 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type b, 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 613152
MedGen35 C2751052
MeSH37 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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OMIM:50 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 muscular hypotonia, motor delay and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (Fukutin). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:68 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, 110.0

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 muscular hypotonia HP:0001252
2 motor delay HP:0001270
3 elevated serum creatine phosphokinase HP:0003236
4 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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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B425

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

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

34
Brain

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:

68
id Symbol AA change Variation ID SNP ID
1FKTNp.Arg307GlnVAR_039288rs119463992
2FKTNp.Arg246GlyVAR_065053

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKTNNM_001079802.1(FKTN): c.920G> A (p.Arg307Gln)single nucleotide variantPathogenicrs119463992GRCh37Chr 9, 108380249: 108380249
2FKTNFKTN, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet