MDDGB4
MCID: MSC038
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 (MDDGB4) 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 66 29
Muscular Dystrophy Congenital Fktn-Related 66
Mddgb4 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 613152
MedGen 40 C2751052
MeSH 42 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

OMIM : 54 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, elevated serum creatine phosphokinase and motor delay. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (Fukutin). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 1 10.8

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

Symptoms by clinical synopsis from OMIM:

613152

Clinical features from OMIM:

613152

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

32
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 elevated serum creatine phosphokinase 32 HP:0003236
3 motor delay 32 HP:0001270
4 congenital muscular dystrophy 32 HP:0003741

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

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

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B4 29

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

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

39
Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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

66
id Symbol AA change Variation ID SNP ID
1 FKTN p.Arg307Gln VAR_039288 rs119463992
2 FKTN p.Arg246Gly VAR_065053

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FKTN FKTN, 1-BP DEL, 42G deletion Pathogenic

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 4.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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