MDDGB4
MCID: MSC038
MIFTS: 22

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal 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 72 13 70
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B4 29 6
Mddgb4 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital Without Mental Retardation B4 72
Muscular Dystrophy, Congenital, Fktn-Related 57
Muscular Dystrophy Congenital Fktn-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 613152
OMIM Phenotypic Series 57 PS613155
MeSH 44 D009136
MedGen 41 C2751052
UMLS 70 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, impaired intellectual development 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) (Updated 05-Apr-2021)

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). Related phenotypes are elevated serum creatine kinase and motor delay

UniProtKB/Swiss-Prot : 72 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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

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

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 motor delay 31 HP:0001270
3 muscular dystrophy 31 HP:0003560
4 generalized hypotonia 31 HP:0001290
5 congenital muscular dystrophy 31 HP:0003741

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
2
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 6
19179078 2009
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57
17878207 2007
4
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 6
17044012 2006
5
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 6
14627679 2003
6
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 6
11165248 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKTN FKTN, 1-BP DEL, 42G Deletion Pathogenic 3217 GRCh37:
GRCh38:
2 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) SNV Pathogenic 3208 rs119463992 GRCh37: 9:108380249-108380249
GRCh38: 9:105617968-105617968
3 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 GRCh37: 9:108366733-108366733
GRCh38: 9:105604452-105604452
4 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 GRCh37: 9:108368857-108368857
GRCh38: 9:105606576-105606576
5 FKTN NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) SNV Uncertain significance 450015 rs1187674499 GRCh37: 9:108366685-108366685
GRCh38: 9:105604404-105604404
6 FKTN NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 286471 rs146049441 GRCh37: 9:108366509-108366509
GRCh38: 9:105604228-105604228
7 FKTN NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) SNV Uncertain significance 283469 rs146272618 GRCh37: 9:108397387-108397387
GRCh38: 9:105635106-105635106
8 FKTN NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) SNV Uncertain significance 499551 rs374912618 GRCh37: 9:108397496-108397496
GRCh38: 9:105635215-105635215
9 FKTN NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) SNV Benign 93522 rs34787999 GRCh37: 9:108366734-108366734
GRCh38: 9:105604453-105604453

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

72
# Symbol AA change Variation ID SNP ID
1 FKTN p.Arg307Gln VAR_039288 rs119463992
2 FKTN p.Arg246Gly VAR_065053

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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