MCID: MSC038
MIFTS: 20

Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 4 53 13 69
Mddgb4 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B4 28
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 71
Muscular Dystrophy, Congenital, Fktn-Related 53
Muscular Dystrophy Congenital Fktn-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 53 613152
MedGen 39 C2751052
MeSH 41 D009136
SNOMED-CT via HPO 65 258211005 240059009
UMLS 69 C2751052

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

OMIM : 53 MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (613152)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 4, is also known as mddgb4, and has symptoms including motor delay, generalized hypotonia 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 : 71 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

Symptoms via clinical synopsis from OMIM:

53
MuscleSoftTissue:
muscular dystrophy
hypotonia
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

LaboratoryAbnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613152

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

31
# Description HPO Frequency HPO Source Accession
1 motor delay 31 HP:0001270
2 generalized hypotonia 31 HP:0001290
3 elevated serum creatine phosphokinase 31 HP:0003236
4 congenital muscular dystrophy 31 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:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B4 28 FKTN

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

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

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN FKTN, 1-BP DEL, 42G deletion Pathogenic
2 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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