FCMD
MCID: FKY001
MIFTS: 40

Fukuyama Congenital Muscular Dystrophy (FCMD) malady

Muscle diseases category

Summaries for Fukuyama Congenital Muscular Dystrophy

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Fukuyama Congenital Muscular Dystrophy, also known as fukuyama type congenital muscular dystrophy, is related to congenital muscular dystrophy and muscular dystrophy. 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, eye and skeletal muscle, and related mouse phenotypes are other and cellular.

Description from OMIM:46 253800

GeneReviews summary for fcmd

Aliases & Classifications for Fukuyama Congenital Muscular Dystrophy

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8Disease Ontology, 19GeneReviews, 60UMLS, 46OMIM
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Classifications:

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


Aliases & Descriptions:

fukuyama congenital muscular dystrophy 8 19
fukuyama type congenital muscular dystrophy 19 60
fcmd 19


External Ids:

Disease Ontology8 DOID:0050559
OMIM46 253800

Related Diseases for Fukuyama Congenital Muscular Dystrophy

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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 33)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy31.6LARGE
2muscular dystrophy31.6ITGA7, SSPN
3fukuyama type muscular dystrophy31.3LAMA2, DMD, MGAT5B, FKTN, LARGE, POMGNT1
4walker-warburg syndrome31.0MGAT5B, DMD, POMGNT2, POMT1, POMGNT1, FKTN
5lissencephaly30.5POMT1, POMGNT1, FKTN, DAG1
6cerebritis10.7
7neuronitis10.4
8brain disease10.3
9cell type cancer10.3
10eye disease10.3
11tauopathy10.3
12hyperekplexia10.3
13polymicrogyria10.3
14muscular dystrophy-dystroglycanopathy , type a, 410.0
15microcephaly10.0POMT1
16duchenne muscular dystrophy10.0DMD
17dilated cardiomyopathy10.0DMD, LAMA2
18emery-dreifuss muscular dystrophy10.0LAMA2, DMD
19myocarditis10.0DMD
20myopathy congenital10.0ITGA7, DMD
21protein s deficiency10.0LAMA2, DMD
22becker muscular dystrophy10.0DMD, FKTN, LAMA2
23muscular dystrophy-dystroglycanopathy , type c, 510.0LAMA2, POMGNT2
24intellectual disability10.0FKTN, POMT1, DMD, DAG1
25neuromuscular disease10.0DMD, LAMA2
26noonan syndrome10.0LAMA2, DMD, CREB1
27epilepsy syndrome10.0CREB1, DMD, LAMA2
28congenital heart defect10.0LAMA2, CREB1, DMD
29mental retardation10.0CREB1, FKTN, POMGNT1, POMT1, DMD
30limb-girdle muscular dystrophy10.0LAMA2, DMD, POMGNT2, FKTN
31neuropathy10.0POMGNT1, POMT1, DMD, DAG1, FKTN, LAMA2
32myopathy10.0DMD, LAMA2, POMT1, DAG1, FKTN, POMGNT1
33muscular dystrophy-dystroglycanopathy , type a, 1410.0DAG1, FKTN, POMGNT1, POMT1, POMGNT2, 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

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46OMIM
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Clinical features from OMIM:

253800

Drugs & Therapeutics for Fukuyama Congenital Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fukuyama Congenital Muscular Dystrophy

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Anatomical Context for Fukuyama Congenital Muscular Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Fukuyama Congenital Muscular Dystrophy:

32
Brain, Eye, Skeletal muscle, Cortex, Retina

Animal Models for Fukuyama Congenital Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fukuyama Congenital Muscular Dystrophy:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3POMGNT1, FKTN, DAG1, LAMA2
2MP:00053848.2CREB1, ITGA7, POMGNT1, FKTN, DAG1, LAMA2
3MP:00053908.2DMD, CREB1, ITGA7, SSPN, LAMA2, LARGE
4MP:00053858.2DMD, CREB1, ITGA7, POMT1, POMGNT1, DAG1
5MP:00053868.0DMD, CREB1, ITGA7, POMGNT1, FKTN, DAG1
6MP:00053897.9DMD, CREB1, HFM1, POMGNT1, LAMA2, LARGE
7MP:00053787.5DMD, CREB1, ITGA7, SSPN, POMGNT1, FKTN
8MP:00036317.5MGAT5B, DMD, CREB1, ITGA7, POMGNT1, FKTN
9MP:00053697.3LARGE, DMD, CREB1, ITGA7, SSPN, POMT1
10MP:00107687.3DMD, CREB1, ITGA7, SSPN, POMT1, POMGNT1
11MP:00053767.0MGAT5B, DMD, CREB1, ITGA7, SSPN, POMGNT1

Publications for Fukuyama Congenital Muscular Dystrophy

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50PubMed
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Articles related to Fukuyama Congenital Muscular Dystrophy:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. (21726969)
2012
2
Roles of fukutin, the gene responsible for fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migration. (21614170)
2011
3
Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy. (20571791)
2010
4
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
5
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. (17597323)
2008
6
Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. (18975603)
2008
7
A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation. (18808525)
2008
8
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. (16466646)
2006
9
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. (16570239)
2006
10
A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. (16545565)
2006
11
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. (15626844)
2004
12
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
13
Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy. (12769189)
2003
14
Altered aquaporin 4 expression in muscles of Fukuyama-type congenital muscular dystrophy. (12942324)
2003
15
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. (12172906)
2002
16
Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene. (12408965)
2002
17
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. (11165248)
2001
18
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
19
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
20
Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. (10852541)
2000
21
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (10817652)
2000
22
The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy. (10672329)
2000
23
Breached cerebral glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy. (10502035)
1999
24
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. (9690476)
1998
25
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. (9255393)
1997
26
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. (9099829)
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
Morphological study of the brainstem in Fukuyama type congenital muscular dystrophy. (8972533)
1996
30
Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. (8940277)
1996
31
Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy. (7762760)
1995
32
Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. (7739638)
1995
33
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. (7477753)
1995
34
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. (7818265)
1995
35
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. (8275093)
1993
36
Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. (8102757)
1993
37
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. (8094772)
1993
38
Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. (1456390)
1992
39
Congenital muscular dystrophy of a non-Fukuyama type with white matter hyperlucency on CT scan. (1492657)
1992
40
Vascular alterations in Fukuyama type congenital muscular dystrophy. (1892223)
1991
41
Congenital muscular dystrophy (Fukuyama type)--changes in the white matter low density on CT. (3369669)
1988
42
Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. (3439458)
1987
43
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). (3314312)
1987
44
A Golgi study of the cerebral cortex in Fukuyama-type congenital muscular dystrophy, Walker-type "lissencephaly," and classical lissencephaly. (2451446)
1987
45
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. (3799138)
1986
46
A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child. (3508701)
1986
47
Muscle regeneration and satellite cells in Fukuyama type congenital muscular dystrophy. (3724791)
1986
48
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. (4003043)
1985
49
Lipid composition of the cerebral gray and white matter in a case with Fukuyama type congenital muscular dystrophy. (4083391)
1985
50
Fukuyama type congenital muscular dystrophy--two Dutch siblings. (6496876)
1984

Genetic Variations for Fukuyama Congenital Muscular Dystrophy

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Expression for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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

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Pathways for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-d-mannoside449.3POMGNT2, POMGNT1
2gdpmannose448.9ALG1, POMGNT2
3heparin44 28 11 2411.6LAMA2, DAG1, POMGNT2, DMD
4mannose447.8ALG1, FKTN, POMGNT1, POMT1, POMGNT2, MGAT5B

GO Terms for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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