FCMD
MCID: FKY001
MIFTS: 39

Fukuyama Congenital Muscular Dystrophy (FCMD) malady

Muscle category

Summaries for Fukuyama Congenital Muscular Dystrophy

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Fukuyama Congenital Muscular Dystrophy, also known as fukuyama type congenital muscular dystrophy, is related to fukuyama type muscular dystrophy and walker-warburg syndrome. An important gene associated with Fukuyama Congenital Muscular Dystrophy is FKTN (fukutin), and among its related pathways are DREAM Repression and Dynorphin Expression and Other types of O-glycan biosynthesis. The compounds alpha-d-mannoside and gdpmannose have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and retina, and related mouse phenotypes are other and cellular.

Description from OMIM:47 253800

GeneReviews summary for fcmd

Aliases & Classifications for Fukuyama Congenital Muscular Dystrophy

Sources:
8Disease Ontology, 19GeneReviews, 61UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

fukuyama congenital muscular dystrophy 8 19
fukuyama type congenital muscular dystrophy 19 61
fcmd 19


External Ids:

Disease Ontology8 DOID:0050559
OMIM47 253800

Related Diseases for Fukuyama Congenital Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the fukuyama type muscular dystrophy family:

fukuyama congenital muscular dystrophy

Diseases related to Fukuyama Congenital Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy31.3LARGE, MGAT5B, DMD, ITGA7, POMGNT2, POMT1
2walker-warburg syndrome31.0ALG1, MGAT5B, DMD, POMGNT2, POMT1, POMGNT1
3protein s deficiency30.5DMD, LAMA2
4lissencephaly30.5DAG1, FKTN, POMGNT1, POMT1
5mental retardation30.2DMD, CREB1, POMT1, POMGNT1, FKTN
6ocular muscular dystrophy10.6
7muscular dystrophy-dystroglycanopathy10.4
8protein c deficiency10.4
9brain disease10.4
10tauopathy10.4
11hyperekplexia10.4
12cerebellar degeneration10.4
13muscular dystrophy, congenital, merosin-positive10.4
14seizure disorder10.4
15muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.4
16muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.4
17polymicrogyria10.3
18muscular dystrophy-dystroglycanopathy , type a, 410.0
19congenital muscular dystrophy10.0LARGE
20microcephaly10.0POMT1
21duchenne muscular dystrophy10.0DMD
22muscular dystrophy10.0SSPN, ITGA7
23dilated cardiomyopathy10.0DMD, LAMA2
24emery-dreifuss muscular dystrophy10.0LAMA2, DMD
25myocarditis10.0DMD
26myopathy congenital10.0DMD, ITGA7
27becker muscular dystrophy10.0LAMA2, FKTN, DMD
28muscular dystrophy-dystroglycanopathy , type c, 510.0POMGNT2, LAMA2
29intellectual disability10.0DMD, POMT1, FKTN, DAG1
30neuromuscular disease10.0DMD, LAMA2
31noonan syndrome10.0LAMA2, CREB1, DMD
32epilepsy syndrome10.0LAMA2, CREB1, DMD
33congenital heart defect10.0LAMA2, CREB1, DMD
34limb-girdle muscular dystrophy10.0LAMA2, FKTN, POMGNT2, DMD
35neuropathy10.0DMD, POMT1, POMGNT1, FKTN, DAG1, LAMA2
36myopathy10.0DMD, ITGA7, POMT1, POMGNT1, FKTN, DAG1
37muscular dystrophy-dystroglycanopathy , type a, 1410.0LAMA2, LARGE, DAG1, FKTN, POMGNT1, DMD

Graphical network of the top 20 diseases related to Fukuyama Congenital Muscular Dystrophy:



Diseases related to fukuyama congenital muscular dystrophy

Clinical Features for Fukuyama Congenital Muscular Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

253800

Drugs & Therapeutics for Fukuyama Congenital Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Fukuyama Congenital Muscular Dystrophy

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Genetic Tests for Fukuyama Congenital Muscular Dystrophy

Anatomical Context for Fukuyama Congenital Muscular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Fukuyama Congenital Muscular Dystrophy:

33
Brain, Cortex, Retina, Skeletal muscle, T cells, Fetal brain

Animal Models for Fukuyama Congenital Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Fukuyama Congenital Muscular Dystrophy

Sources:
51PubMed
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Articles related to Fukuyama Congenital Muscular Dystrophy:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. (23582336)
2013
2
MRI findings in Fukuyama congenital muscular dystrophy: a rare case report. (22553003)
2012
3
Roles of fukutin, the gene responsible for fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migration. (21614170)
2011
4
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
5
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. (16570239)
2006
6
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
7
Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy. (15921243)
2005
8
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
9
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. (12893968)
2003
10
Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy. (12769189)
2003
11
Altered aquaporin 4 expression in muscles of Fukuyama-type congenital muscular dystrophy. (12942324)
2003
12
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. (12172906)
2002
13
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
14
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
15
Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy. (10980312)
2000
16
The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy. (10672329)
2000
17
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. (10682317)
1999
18
Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]. (10067123)
1999
19
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). (10545611)
1999
20
A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]. (10487070)
1999
21
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. (9690476)
1998
22
Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene. (9600742)
1998
23
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. (9255393)
1997
24
Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. (9185184)
1997
25
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. (9099829)
1997
26
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. (9071488)
1997
27
Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. (8958324)
1996
28
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. (8733905)
1996
29
Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. (8940277)
1996
30
Recent advances in Fukuyama type congenital muscular dystrophy]. (8534509)
1995
31
Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy. (7762760)
1995
32
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. (7818265)
1995
33
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. (7856660)
1994
34
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
35
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. (1731332)
1992
36
Serial MRI in Fukuyama type congenital muscular dystrophy. (1407518)
1992
37
Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. (1456390)
1992
38
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. (2092587)
1990
39
Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type). (2290477)
1990
40
Congenital muscular dystrophy (Fukuyama type)--changes in the white matter low density on CT. (3369669)
1988
41
Congenital muscular dystrophy of a non-Fukuyama type. (3218715)
1988
42
Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. (3439458)
1987
43
A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child. (3508701)
1986
44
Small size of orthogonal array in muscle plasma membrane of Fukuyama type congenital muscular dystrophy. (3825512)
1986
45
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. (4003043)
1985
46
Freeze-fracture studies of muscle plasma membrane in Fukuyama-type congenital muscular dystrophy. (4058747)
1985
47
Lipid composition of the cerebral gray and white matter in a case with Fukuyama type congenital muscular dystrophy. (4083391)
1985
48
Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). (6737009)
1984
49
Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). (6315292)
1983
50
Fukuyama-type congenital muscular dystrophy. (7119961)
1982

Genetic Variations for Fukuyama Congenital Muscular Dystrophy

Expression for genes affiliated with Fukuyama Congenital Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fukuyama Congenital Muscular Dystrophy

Search GEO for disease gene expression data for Fukuyama Congenital Muscular Dystrophy.

Pathways for genes affiliated with Fukuyama Congenital Muscular Dystrophy

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54Reactome
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Compounds for genes affiliated with Fukuyama Congenital Muscular Dystrophy

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-d-mannoside459.3POMGNT2, POMGNT1
2gdpmannose458.9ALG1, POMGNT2
3heparin45 29 11 2411.6LAMA2, DAG1, POMGNT2, DMD
4mannose457.8ALG1, FKTN, POMGNT1, POMT1, POMGNT2, MGAT5B

GO Terms for genes affiliated with Fukuyama Congenital Muscular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.1DAG1, SSPN, DMD
2sarcolemmaGO:0423838.9LAMA2, DAG1, SSPN, DMD
3postsynaptic membraneGO:0452118.9DMD, SSPN, DAG1
4endoplasmic reticulumGO:0057838.7ALG1, FKTN, POMT1, POMGNT2

Biological processes related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:0467169.8LARGE, DMD
2mannosylationGO:0975029.5ALG1, POMT1
3muscle organ developmentGO:0075179.4LAMA2, FKTN, ITGA7, DMD
4protein O-linked glycosylationGO:0064939.0POMGNT1, POMT1, POMGNT2
5extracellular matrix organizationGO:0301988.9DMD, ITGA7, POMT1, DAG1, LAMA2

Molecular functions related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mannosyltransferase activityGO:0000309.8ALG1, POMT1
2structural constituent of muscleGO:0083079.8DAG1, DMD
3vinculin bindingGO:0171669.7DAG1, DMD
4acetylglucosaminyltransferase activityGO:0083759.0LARGE, POMGNT2

Products for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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Sources for Fukuyama Congenital Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet