MCID: MSC038
MIFTS: 20

Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare 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 57 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B4 29 6
Mddgb4 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 75
Muscular Dystrophy, Congenital, Fktn-Related 57
Muscular Dystrophy Congenital Fktn-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported


HPO:

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


Classifications:



External Ids:

OMIM 57 613152
MedGen 42 C2751052
MeSH 44 D009136
UMLS 73 C2751052

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

OMIM : 57 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 congenital muscular dystrophy-dystroglycanopathy without mental retardation, type b4. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (Fukutin). Affiliated tissues include brain, and related phenotypes are motor delay and generalized hypotonia

UniProtKB/Swiss-Prot : 75 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:

57
Muscle Soft Tissue:
muscular dystrophy
hypotonia
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613152

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

32
# Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 generalized hypotonia 32 HP:0001290
3 elevated serum creatine phosphokinase 32 HP:0003236
4 muscular dystrophy 32 HP:0003560
5 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:

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

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

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

41
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:

75
# 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 NM_001079802.1(FKTN): c.920G> A (p.Arg307Gln) single nucleotide variant Pathogenic rs119463992 GRCh37 Chromosome 9, 108380249: 108380249
2 FKTN NM_001079802.1(FKTN): c.920G> A (p.Arg307Gln) single nucleotide variant Pathogenic rs119463992 GRCh38 Chromosome 9, 105617968: 105617968
3 FKTN FKTN, 1-BP DEL, 42G deletion Pathogenic
4 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
5 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh37 Chromosome 9, 108366733: 108366733

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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