MCID: MSC038
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic 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 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 70 27
 
Muscular Dystrophy Congenital Fktn-Related 70
Mddgb4 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type b, 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 613152
MedGen37 C2751052
MeSH39 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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OMIM:52 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:70 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, 110.8

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Symptoms by clinical synopsis from OMIM:

613152

Clinical features from OMIM:

613152

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

 64
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia64 HP:0001252
2 motor delay64 HP:0001270
3 elevated serum creatine phosphokinase64 HP:0003236
4 congenital muscular dystrophy64 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 B427

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

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

36
Brain

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:

70
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)SNVPathogenicrs119463992GRCh37Chr 9, 108380249: 108380249
2FKTNFKTN, 1-BP DEL, 42GdeletionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet