FCMD
MCID: FKY001
MIFTS: 39

Fukuyama Congenital Muscular Dystrophy (FCMD) malady

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

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47OMIM, 19GeneReviews, 33MalaCards
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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 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 related mouse phenotypes are other and craniofacial.

Description from OMIM:47 253800

GeneReviews summary for fcmd

Aliases & Classifications for Fukuyama Congenital Muscular Dystrophy

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8Disease Ontology, 19GeneReviews, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

fukuyama congenital muscular dystrophy 8 19
fukuyama type congenital muscular dystrophy 19 62
fcmd 19


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Disease Ontology8 DOID:0050559
OMIM47 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 dystrophy31.8LARGE
2muscular dystrophy31.8ITGA7, SSPN
3fukuyama type muscular dystrophy31.1LAMA2, LARGE, DMD, MGAT5B, POMGNT2, POMGNT1
4walker-warburg syndrome30.7DAG1, MGAT5B, DMD, LARGE, LAMA2, POMGNT2
5lissencephaly30.6DAG1, POMGNT1, POMT1, FKTN
6mental retardation30.2FKTN, POMT1, CREB1, POMGNT1, DMD
7cerebritis10.7
8neuronitis10.5
9tauopathy10.4
10brain disease10.4
11hyperekplexia10.4
12muscle eye brain disease10.4
13seizure disorder10.4
14muscular dystrophy-dystroglycanopathy , type c, 510.1LAMA2, POMGNT2
15myopathy congenital10.1ITGA7, DMD
16emery-dreifuss muscular dystrophy10.0DMD, LAMA2
17dilated cardiomyopathy10.0LAMA2, DMD
18protein s deficiency10.0LAMA2, DMD
19becker muscular dystrophy10.0DMD, LAMA2, FKTN
20polymyositis10.0DMD, LAMA2
21muscular dystrophy-dystroglycanopathy , type a, 410.0
22neuromuscular disease10.0LAMA2, DMD
23limb-girdle muscular dystrophy10.0FKTN, POMGNT2, LAMA2, DMD
24hypertrophy of breast10.0LAMA2, POMT1, DMD
25noonan syndrome10.0DMD, CREB1, LAMA2
26epilepsy syndrome10.0DMD, LAMA2, CREB1
27congenital heart disease10.0DMD, LAMA2, CREB1
28intellectual disability10.0DAG1, FKTN, POMT1, DMD
29melanoma9.9CREB1, ITGA7, POMGNT2, DMD
30duchenne muscular dystrophy9.9DMD, LAMA2, POMGNT2, FKTN, DAG1, ITGA7
31neuropathy9.9DMD, LAMA2, POMGNT1, POMT1, FKTN, DAG1
32myopathy9.9POMT1, ITGA7, DAG1, DMD, LAMA2, POMGNT1
33muscular dystrophy-dystroglycanopathy , type a, 149.8LARGE, POMGNT2, LAMA2, DMD, DAG1, POMGNT1

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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47OMIM
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Clinical features from OMIM:

253800

Drugs & Therapeutics for Fukuyama Congenital Muscular Dystrophy

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Fukuyama Congenital Muscular Dystrophy:

33
Brain

Animal Models for Fukuyama Congenital Muscular Dystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Fukuyama Congenital Muscular Dystrophy:

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

Publications for Fukuyama Congenital Muscular Dystrophy

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52PubMed
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Articles related to Fukuyama Congenital Muscular Dystrophy:

(show all 36)
idTitleAuthorsYear
1
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. (24113355)
2013
2
Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report. (22378666)
2013
3
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. (23582336)
2013
4
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. (21726969)
2012
5
MRI findings in Fukuyama congenital muscular dystrophy: a rare case report. (22553003)
2012
6
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms. (21191726)
2010
7
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. (19324374)
2009
8
Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. (18975603)
2008
9
Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. (18830929)
2008
10
Fukuyama congenital muscular dystrophy--history and perspectives]. (18232332)
2008
11
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. (16466646)
2006
12
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. (16570239)
2006
13
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
14
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. (15626844)
2004
15
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. (15103718)
2004
16
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. (12172906)
2002
17
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. (10714585)
2000
18
The Fukuyama congenital muscular dystrophy story. (10734260)
2000
19
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. (11024205)
2000
20
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (10817652)
2000
21
Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. (10029257)
1999
22
Fukuyama congenital muscular dystrophy: a neuroradiologic review. (9562058)
1998
23
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. (9255393)
1997
24
Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. (9206000)
1997
25
Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. (9185184)
1997
26
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. (9071488)
1997
27
Brain MR in Fukuyama congenital muscular dystrophy. (8730178)
1996
28
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. (7856660)
1994
29
Fukuyama Congenital Muscular Dystrophy (20301385)
1993
30
Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. (8102757)
1993
31
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. (1731332)
1992
32
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. (2092587)
1990
33
Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis. (2457291)
1988
34
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). (3314312)
1987
35
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. (3799138)
1986
36
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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2BioGPS, 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

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50PathCards, 55Reactome, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database
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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 adhesion38
Focal Adhesion38
9.4DAG1, ITGA7, LAMA2
49.4DAG1, LAMA2, ITGA7
59.3POMT1, MGAT5B, POMGNT1
69.3CREB1, LAMA2, ITGA7
7
Show member pathways
9.3CREB1, LAMA2, ITGA7
8
Show member pathways
Proteogylcan syndecan-mediated signaling events38
9.0DMD, DAG1, LAMA2, ITGA7
9
Show member pathways
9.0DMD, LAMA2, ITGA7, DAG1
10
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.0DAG1, LAMA2, ITGA7, DMD
11
Show member pathways
8.8CREB1, ITGA7, DMD, DAG1
12
Show member pathways
8.7DMD, LAMA2, DAG1, CREB1
138.4SSPN, LAMA2, DMD, DAG1

Compounds for genes affiliated with Fukuyama Congenital Muscular Dystrophy

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45Novoseek, 51PharmGKB, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Fukuyama Congenital Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-d-mannoside459.4POMGNT1, POMGNT2
2mannose459.3POMGNT2, MGAT5B
3acetylcholine45 51 29 24 1113.1CREB1, DMD, DAG1
4heparin45 29 24 1111.3DAG1, DMD, LAMA2, POMGNT2

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

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

idNameGO IDScoreTop Affiliating Genes
1myelination in peripheral nervous systemGO:0220119.7DAG1, LAMA2
2muscle organ developmentGO:0075179.2ITGA7, FKTN, LAMA2, DMD
3protein O-linked glycosylationGO:0064938.9POMT1, POMGNT2, POMGNT1
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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet