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 cortex, 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, Cortex, Skeletal muscle, 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
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
Rhabdomyolysis Associated With Human Parvovirus B19 Infection in a Patient With Fukuyama-Type Congenital Muscular Dystrophy. (23594821)
2013
4
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. (20518731)
2010
5
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms. (21191726)
2010
6
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. (19842201)
2009
7
Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. (18830929)
2008
8
Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy. (19108571)
2008
9
The mildest known case of Fukuyama-type congenital muscular dystrophy. (16603329)
2006
10
Unique tauopathy in Fukuyama-type congenital muscular dystrophy. (16319722)
2005
11
Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. (16222679)
2005
12
Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle. (11738352)
2002
13
Oxidative stress in the brain of Fukuyama type congenital muscular dystrophy: immunohistochemical study on astrocytes. (12585716)
2002
14
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. (11525887)
2001
15
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. (11445638)
2001
16
Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy. (11248458)
2001
17
Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. (11153909)
2000
18
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. (11024205)
2000
19
Fukuyama-type congenital muscular dystrophy]. (11464484)
2000
20
Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels--therapeutic effects of oral selenium administration]. (10916376)
2000
21
Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis. (10593547)
1999
22
The early induction of cyclooxygenase 2 associated with neurofibrillary degeneration in brains of patients with Fukuyama-type congenital muscular dystrophy. (10222459)
1999
23
Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). (9799088)
1998
24
Fukuyama congenital muscular dystrophy: a neuroradiologic review. (9562058)
1998
25
YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. (9119396)
1997
26
Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms]. (9436431)
1997
27
Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes. (9134189)
1997
28
Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. (9206000)
1997
29
Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. (8834545)
1996
30
Brain MR in Fukuyama congenital muscular dystrophy. (8730178)
1996
31
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. (7633187)
1995
32
Morphometric study of the corpus callosum in Fukuyama type congenital muscular dystrophy by magnetic resonance imaging. (7625543)
1995
33
Congenital muscular dystrophy (non-Fukuyama type): a case report. (7796362)
1995
34
Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)]. (8752416)
1995
35
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. (7847224)
1994
36
Fukuyama type congenital muscular dystrophy with central-temporal EEG foci (rolandic spikes). (8142632)
1993
37
Fukuyama Congenital Muscular Dystrophy (20301385)
1993
38
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Commentary to Kimura's paper (pp. 182-91) (8214355)
1993
39
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
40
MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. (1899518)
1991
41
Fukuyama type congenital muscular dystrophy in a Turkish child. (2357650)
1990
42
Degradation of connectin (titin) in Fukuyama type congenital muscular dystrophy: immunochemical study with monoclonal antibodies. (2243226)
1990
43
Ocular findings in Fukuyama type congenital muscular dystrophy. (2618965)
1989
44
Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation. (2817300)
1989
45
Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis. (2457291)
1988
46
Freeze-fracture analysis of cholesterol in muscle plasma membrane of Fukuyama-type congenital muscular dystrophy. (3434215)
1987
47
Congenital muscular dystrophy of non-Fukuyama type with characteristic CT images. (3661912)
1987
48
Inflammatory infiltration in Fukuyama type congenital muscular dystrophy. (6843587)
1983
49
Ocular manifestations of congenital muscular dystrophy (Fukuyama type). (6651132)
1983
50
Fukuyama-type congenital muscular dystrophy. (7125985)
1982

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
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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