FCMD
MCID: FKY001
MIFTS: 41

Fukuyama Congenital Muscular Dystrophy (FCMD) malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Fukuyama Congenital Muscular Dystrophy

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MalaCards based summary: Fukuyama Congenital Muscular Dystrophy, also known as fukuyama type congenital muscular dystrophy, is related to congenital muscular dystrophy and lissencephaly. An important gene associated with Fukuyama Congenital Muscular Dystrophy is FKTN (fukutin), and among its related pathways are Integrin cell surface interactions and Agrin Interactions at Neuromuscular Junction. The compounds alpha-d-mannoside and mannose have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle, and related mouse phenotypes are other and craniofacial.

Description from OMIM:46 253800

GeneReviews summary for fcmd

Aliases & Classifications for Fukuyama Congenital Muscular Dystrophy

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Fukuyama Congenital Muscular Dystrophy, Aliases & Descriptions:

Name: Fukuyama Congenital Muscular Dystrophy 8 19
Fukuyama Type Congenital Muscular Dystrophy 19 62
 
Fcmd 19


Classifications:



External Ids:

Disease Ontology8 DOID:0050559
OMIM46 253800

Related Diseases for Fukuyama Congenital Muscular Dystrophy

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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 34)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy32.3LARGE
2lissencephaly30.5DAG1, POMGNT1, POMT1, FKTN
3muscular dystrophy30.4FKTN, ITGA7, POMT1, POMGNT1, DAG1, DMD
4mental retardation29.9CREB1, FKTN, POMT1, POMGNT1, DMD
5walker-warburg syndrome29.5DAG1, MGAT5B, DMD, LARGE, LAMA2, POMGNT2
6muscular dystrophy-dystroglycanopathy , type a, 429.5ITGA7, MGAT5B, DMD, LARGE, LAMA2, POMGNT2
7fukuyama type muscular dystrophy11.0
8cerebritis10.8
9neuronitis10.5
10brain disease10.4
11tauopathy10.4
12hyperekplexia10.4
13muscle eye brain disease10.4
14seizure disorder10.4
15microcephaly10.4
16polymicrogyria10.4
17muscular dystrophy-dystroglycanopathy , type c, 510.2POMGNT2, LAMA2
18emery-dreifuss muscular dystrophy10.2LAMA2, DMD
19myopathy congenital10.2ITGA7, DMD
20dilated cardiomyopathy10.2DMD, LAMA2
21polymyositis10.1DMD, LAMA2
22becker muscular dystrophy10.1DMD, LAMA2, FKTN
23neuromuscular disease10.1DMD, LAMA2
24limb-girdle muscular dystrophy10.0FKTN, POMGNT2, LAMA2, DMD
25noonan syndrome9.9DMD, LAMA2, CREB1
26muscular dystrophy-dystroglycanopathy , type b, 59.9LAMA2, POMGNT2, POMGNT1, POMT1, FKTN
27epilepsy syndrome9.9CREB1, LAMA2, DMD
28congenital heart disease9.9DMD, LAMA2, CREB1
29intellectual disability multi-gene panels9.9FKTN, POMT1, DMD, DAG1
30melanoma9.6CREB1, ITGA7, POMGNT2, DMD
31duchenne muscular dystrophy9.6DAG1, DMD, LAMA2, POMGNT2, FKTN, ITGA7
32neuropathy9.6DAG1, DMD, LAMA2, POMGNT1, POMT1, FKTN
33myopathy9.5DAG1, DMD, LAMA2, POMGNT1, POMT1, FKTN
34muscular dystrophy-dystroglycanopathy , type a, 19.3DMD, LARGE, LAMA2, POMGNT2, POMGNT1, POMT1

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



Diseases related to fukuyama congenital muscular dystrophy

Symptoms for Fukuyama Congenital Muscular Dystrophy

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Clinical features from OMIM:

253800

Drugs & Therapeutics for Fukuyama Congenital Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Fukuyama Congenital Muscular Dystrophy

Search NIH Clinical Center for Fukuyama Congenital Muscular Dystrophy

Genetic Tests for Fukuyama Congenital Muscular Dystrophy

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Anatomical Context for Fukuyama Congenital Muscular Dystrophy

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MalaCards organs/tissues related to Fukuyama Congenital Muscular Dystrophy:

32
Brain, Skeletal muscle

Animal Models for Fukuyama Congenital Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fukuyama Congenital Muscular Dystrophy:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2DAG1, LAMA2, POMGNT1, FKTN
2MP:00053829.0POMGNT1, LAMA2, LARGE, DAG1
3MP:00053898.2DMD, LARGE, LAMA2, POMGNT1, CREB1
4MP:00053848.1DAG1, DMD, POMGNT1, FKTN, ITGA7, CREB1
5MP:00053857.9DAG1, DMD, LARGE, POMGNT1, POMT1, ITGA7
6MP:00053907.7DMD, LARGE, LAMA2, SSPN, ITGA7, CREB1
7MP:00053867.6DAG1, DMD, LARGE, LAMA2, POMGNT1, FKTN
8MP:00036317.2DAG1, MGAT5B, DMD, LARGE, LAMA2, POMGNT1
9MP:00053786.9DAG1, DMD, LARGE, LAMA2, POMGNT1, FKTN
10MP:00053696.6CREB1, DAG1, DMD, LARGE, LAMA2, POMGNT1
11MP:00107686.6LAMA2, LARGE, DMD, DAG1, POMGNT1, POMT1
12MP:00053766.4DAG1, MGAT5B, DMD, LARGE, LAMA2, POMGNT1

Publications for Fukuyama Congenital Muscular Dystrophy

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Articles related to Fukuyama Congenital Muscular Dystrophy:

(show all 40)
idTitleAuthorsYear
1
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. (24530477)
2014
2
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. (25198651)
2014
3
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. (24113355)
2013
4
Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report. (22378666)
2013
5
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. (23582336)
2013
6
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. (21726969)
2012
7
MRI findings in Fukuyama congenital muscular dystrophy: a rare case report. (22553003)
2012
8
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms. (21191726)
2010
9
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
10
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. (19842201)
2009
11
Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. (18975603)
2008
12
Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. (18830929)
2008
13
Fukuyama congenital muscular dystrophy--history and perspectives]. (18232332)
2008
14
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. (16466646)
2006
15
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. (16570239)
2006
16
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
17
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. (15626844)
2004
18
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
19
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. (12172906)
2002
20
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
21
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
22
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. (11024205)
2000
23
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (10817652)
2000
24
Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. (10029257)
1999
25
Fukuyama congenital muscular dystrophy: a neuroradiologic review. (9562058)
1998
26
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. (9255393)
1997
27
Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. (9206000)
1997
28
Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. (9185184)
1997
29
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. (9071488)
1997
30
Brain MR in Fukuyama congenital muscular dystrophy. (8730178)
1996
31
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. (7856660)
1994
32
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. (7847224)
1994
33
Fukuyama Congenital Muscular Dystrophy (20301385)
1993
34
Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. (8102757)
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
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. (2092587)
1990
37
Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis. (2457291)
1988
38
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). (3314312)
1987
39
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. (3799138)
1986
40
A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child. (3508701)
1986

Variations for Fukuyama Congenital Muscular Dystrophy

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Expression for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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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

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Pathways related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGA7, DAG1
29.7LAMA2, DAG1
3
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.4DAG1, LAMA2, ITGA7
49.4ITGA7, LAMA2, DAG1
59.3POMT1, POMGNT1, MGAT5B
69.3LAMA2, ITGA7, CREB1
7
Show member pathways
9.3CREB1, ITGA7, LAMA2
8
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.0DAG1, DMD, LAMA2, ITGA7
9
Show member pathways
9.0DAG1, DMD, LAMA2, ITGA7
10
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.0DAG1, DMD, LAMA2, ITGA7
11
Show member pathways
8.8DAG1, DMD, ITGA7, CREB1
12
Show member pathways
8.7DAG1, DMD, LAMA2, CREB1
138.4SSPN, LAMA2, DMD, DAG1

Compounds for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-d-mannoside449.4POMGNT1, POMGNT2
2mannose449.3POMGNT2, MGAT5B
3acetylcholine44 50 28 24 1113.1CREB1, DMD, DAG1
4heparin44 28 24 1111.3DAG1, DMD, LAMA2, POMGNT2

GO Terms for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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Cellular components related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.7LAMA2, DAG1
2costamereGO:0430349.6DAG1, DMD
3filopodiumGO:0301759.3DMD, DAG1
4dystrophin-associated glycoprotein complexGO:0160108.9SSPN, DMD, DAG1
5postsynaptic membraneGO:0452118.7SSPN, DMD, DAG1
6sarcolemmaGO:0423838.3ITGA7, SSPN, LAMA2, DMD, DAG1

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

idNameGO IDScoreTop Affiliating Genes
1myelination in peripheral nervous systemGO:0220119.7LAMA2, DAG1
2muscle organ developmentGO:0075179.2ITGA7, FKTN, LAMA2, DMD
3protein O-linked glycosylationGO:0064938.9POMT1, POMGNT1, POMGNT2
4extracellular matrix organizationGO:0301988.6DAG1, DMD, LAMA2, POMT1, ITGA7

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:0021629.6DMD, DAG1
2structural constituent of muscleGO:0083079.6DMD, DAG1
3vinculin bindingGO:0171669.5DMD, DAG1
4acetylglucosaminyltransferase activityGO:0083759.2POMGNT2, LARGE

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
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet