FCMD
MCID: FKY002
MIFTS: 25

Fukuyama Type Muscular Dystrophy (FCMD)

Categories: Rare diseases

Aliases & Classifications for Fukuyama Type Muscular Dystrophy

MalaCards integrated aliases for Fukuyama Type Muscular Dystrophy:

Name: Fukuyama Type Muscular Dystrophy 20 6
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 20
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 20
Muscular Dystrophy, Congenital, Fukuyama Type 20
Fukuyama Type Congenital Muscular Dystrophy 71
Cerebromuscular Dystrophy, Fukuyama Type 20
Fcmd 20

Classifications:



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UMLS 71 C0410174

Summaries for Fukuyama Type Muscular Dystrophy

GARD : 20 Fukuyama type muscular dystrophy (FCMD) affects the muscles and brain, causing muscle damage that gets worse over time. There are mild, typical, and severe forms of FCMD. Symptoms begin at birth and include a poor suck, weak cry, and floppiness. Later symptoms include severe speech delay, intellectual disability, seizures, and visual impairment. Over time, muscle damage can lead to heart, breathing, and swallowing problems. Many people with Fukuyama type muscular dystrophy die in early adulthood due to respiratory or heart failure. Fukuyama type muscular dystrophy is caused by genetic variants in the FKTN gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.

MalaCards based summary : Fukuyama Type Muscular Dystrophy, also known as muscular dystrophy, congenital, with central nervous system involvement, is related to muscular dystrophy-dystroglycanopathy , type a, 4 and walker-warburg syndrome, and has symptoms including seizures An important gene associated with Fukuyama Type Muscular Dystrophy is FKTN (Fukutin), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include heart, eye and tongue.

Related Diseases for Fukuyama Type Muscular Dystrophy

Diseases related to Fukuyama Type Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 4 32.1 FKTN FKRP
2 walker-warburg syndrome 30.9 FKTN FKRP
3 muscular dystrophy, congenital, lmna-related 30.2 FKTN FKRP
4 muscular dystrophy 30.2 FKTN FKRP
5 lissencephaly 29.7 FKTN FKRP
6 cobblestone lissencephaly 29.5 FKTN FKRP
7 muscular dystrophy-dystroglycanopathy , type c, 4 29.5 FKTN FKRP
8 muscular dystrophy-dystroglycanopathy , type b, 5 29.5 FKTN FKRP
9 muscular dystrophy, becker type 29.5 FKTN FKRP
10 muscle eye brain disease 29.4 FKTN FKRP
11 atrial standstill 1 10.1
12 dilated cardiomyopathy 10.1
13 neuromuscular disease 10.1
14 cardiomyopathy, dilated, 1x 10.1
15 autosomal recessive disease 10.1
16 hypotonia 10.1
17 familial isolated dilated cardiomyopathy 10.1
18 congenital muscular dystrophy due to dystroglycanopathy 10.0
19 qualitative or quantitative defects of alpha-dystroglycan 10.0
20 congenital muscular dystrophy without intellectual disability 9.9 FKTN FKRP
21 congenital muscular dystrophy-dystroglycanopathy type a 9.9 FKTN FKRP
22 congenital muscular dystrophy-dystroglycanopathy type a1 9.9 FKTN FKRP
23 muscular dystrophy-dystroglycanopathy 9.9 FKTN FKRP
24 congenital muscular dystrophy-dystroglycanopathy a7 9.9 FKTN FKRP
25 muscular dystrophy, congenital, 1b 9.9 FKTN FKRP
26 autosomal recessive limb-girdle muscular dystrophy 9.8 FKTN FKRP
27 cardiomyopathy, dilated, 1b 9.8
28 microphthalmia 9.8
29 hydrocephalus 9.8
30 muscular atrophy 9.8
31 febrile seizures 9.8
32 cerebral cortical dysplasia 9.8
33 progressive muscular dystrophy 9.8
34 central nervous system malformation 9.8
35 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 FKTN FKRP
36 limb-girdle muscular dystrophy 9.8 FKTN FKRP
37 muscular dystrophy-dystroglycanopathy , type c, 7 9.8 FKTN FKRP
38 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 FKTN FKRP
39 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 FKTN FKRP
40 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 FKTN FKRP
41 ablepharon-macrostomia syndrome 9.8 FKTN FKRP
42 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 FKTN FKRP
43 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 FKTN FKRP
44 muscular dystrophy, congenital merosin-deficient, 1a 9.8 FKTN FKRP
45 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 FKTN FKRP
46 adermatoglyphia 9.8 FKTN FKRP
47 glaucoma 3, primary congenital, a 9.8 FKTN FKRP
48 rigid spine muscular dystrophy 1 9.8 FKTN FKRP
49 ullrich congenital muscular dystrophy 1 9.8 FKTN FKRP
50 bethlem myopathy 1 9.8 FKTN FKRP

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



Diseases related to Fukuyama Type Muscular Dystrophy

Symptoms & Phenotypes for Fukuyama Type Muscular Dystrophy

UMLS symptoms related to Fukuyama Type Muscular Dystrophy:


seizures

Drugs & Therapeutics for Fukuyama Type Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Fukuyama Type Muscular Dystrophy

Genetic Tests for Fukuyama Type Muscular Dystrophy

Anatomical Context for Fukuyama Type Muscular Dystrophy

MalaCards organs/tissues related to Fukuyama Type Muscular Dystrophy:

40
Heart, Eye, Tongue

Publications for Fukuyama Type Muscular Dystrophy

Articles related to Fukuyama Type Muscular Dystrophy:

# Title Authors PMID Year
1
Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy. 61
21276730 2011
2
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. 61
12354792 2002
3
Phylogenetic analysis of retroposon family as exemplified on human chromosome 13: further evidence for recent proliferation. 61
10901176 2000
4
SINE-R.C2 (a Homo sapiens specific retroposon) is homologous to CDNA from postmortem brain in schizophrenia and to two loci in the Xq21.3/Yp block linked to handedness and psychosis. 61
10490717 1999
5
Adenylate cyclase in Duchenne and Fukuyama type muscular dystrophy. 61
739733 1978

Variations for Fukuyama Type Muscular Dystrophy

ClinVar genetic disease variations for Fukuyama Type Muscular Dystrophy:

6 (show top 50) (show all 161)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKTN NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) SNV Pathogenic 3216 rs267606814 9:108380248-108380248 9:105617967-105617967
2 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) Duplication Pathogenic 3203 rs398123555 9:108382330-108382331 9:105620049-105620050
3 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 9:108366733-108366733 9:105604452-105604452
4 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 9:108366733-108366733 9:105604452-105604452
5 FKRP NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) SNV Pathogenic 430845 rs775681117 19:47259386-47259386 19:46756129-46756129
6 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) SNV Pathogenic 3208 rs119463992 9:108380249-108380249 9:105617968-105617968
7 FKTN NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) Duplication Pathogenic/Likely pathogenic 93523 rs398123557 9:108366764-108366765 9:105604483-105604484
8 FKTN NM_006731.2(FKTN):c.528dup (p.His177fs) Duplication Likely pathogenic 666969 rs1588112379 9:108366651-108366652 9:105604370-105604371
9 FKTN NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) Deletion Likely pathogenic 557908 rs1554761402 9:108382299-108382300 9:105620018-105620019
10 FKTN NM_006731.2(FKTN):c.1172+1G>A SNV Likely pathogenic 558161 rs1554761462 9:108382343-108382343 9:105620062-105620062
11 FKTN NM_006731.2(FKTN):c.1173-2A>G SNV Likely pathogenic 558611 rs1554766808 9:108397330-108397330 9:105635049-105635049
12 FKTN NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) Deletion Likely pathogenic 371297 rs1057517160 9:108370110-108370113 9:105607829-105607832
13 FKTN NM_001079802.2(FKTN):c.770del (p.Ala257fs) Deletion Likely pathogenic 371050 rs1057516966 9:108370222-108370222 9:105607941-105607941
14 FKTN NM_001079802.2(FKTN):c.429del (p.Asp144fs) Deletion Likely pathogenic 370133 rs1057516258 9:108366553-108366553 9:105604272-105604272
15 FKTN NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) SNV Likely pathogenic 370768 rs773884973 9:108358882-108358882 9:105596601-105596601
16 FKTN NM_006731.2(FKTN):c.780+1G>A SNV Likely pathogenic 370420 rs370819786 9:108370233-108370233 9:105607952-105607952
17 FKTN NM_001079802.2(FKTN):c.330dup (p.Thr111fs) Duplication Likely pathogenic 281839 rs767865405 9:108363587-108363588 9:105601306-105601307
18 FKTN NM_006731.2(FKTN):c.370-2A>G SNV Likely pathogenic 551769 rs1554752805 9:108366494-108366494 9:105604213-105604213
19 FKTN NM_006731.2(FKTN):c.106-2A>G SNV Likely pathogenic 552263 rs1554748292 9:108358877-108358877 9:105596596-105596596
20 FKTN NM_006731.2(FKTN):c.1173-1G>A SNV Likely pathogenic 552964 rs557699482 9:108397331-108397331 9:105635050-105635050
21 FKTN NM_006731.2(FKTN):c.1173-1G>C SNV Likely pathogenic 553352 rs557699482 9:108397331-108397331 9:105635050-105635050
22 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 9:108368857-108368857 9:105606576-105606576
23 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 9:108368857-108368857 9:105606576-105606576
24 FKTN NM_001079802.2(FKTN):c.-1_2del (p.Met1del) Deletion Likely pathogenic 551221 rs1180986256 9:108337312-108337314 9:105575031-105575033
25 FKTN NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) Deletion Likely pathogenic 555661 rs1309132512 9:108337355-108337355 9:105575074-105575074
26 FKTN NM_001079802.2(FKTN):c.1099del (p.Val367fs) Deletion Likely pathogenic 556831 rs1554761310 9:108382269-108382269 9:105619988-105619988
27 FKTN NM_001079802.2(FKTN):c.1106del (p.Phe369fs) Deletion Likely pathogenic 371091 rs750176716 9:108382270-108382270 9:105619989-105619989
28 FKTN NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) SNV Likely pathogenic 167069 rs537001725 9:108366537-108366537 9:105604256-105604256
29 FKTN NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) SNV Conflicting interpretations of pathogenicity 3215 rs119464998 9:108382282-108382282 9:105620001-105620001
30 FKTN NM_001079802.2(FKTN):c.-39G>A SNV Uncertain significance 912449 9:108337275-108337275 9:105574994-105574994
31 FKTN NM_006731.2(FKTN):c.911-13A>G SNV Uncertain significance 381052 rs766103012 9:108380227-108380227 9:105617946-105617946
32 FKTN NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) SNV Uncertain significance 36136 rs146967918 9:108380352-108380352 9:105618071-105618071
33 FKTN NM_001079802.2(FKTN):c.*760A>C SNV Uncertain significance 912535 9:108398305-108398305 9:105636024-105636024
34 FKTN NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 286471 rs146049441 9:108366509-108366509 9:105604228-105604228
35 FKTN NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) SNV Uncertain significance 450015 rs1187674499 9:108366685-108366685 9:105604404-105604404
36 FKTN NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) SNV Uncertain significance 283469 rs146272618 9:108397387-108397387 9:105635106-105635106
37 FKTN NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) SNV Uncertain significance 499551 rs374912618 9:108397496-108397496 9:105635215-105635215
38 FKTN NM_001079802.2(FKTN):c.*5356C>T SNV Uncertain significance 364529 rs553575648 9:108402901-108402901 9:105640620-105640620
39 FKTN NM_001079802.2(FKTN):c.*2640G>C SNV Uncertain significance 912629 9:108400185-108400185 9:105637904-105637904
40 FKTN NM_001079802.2(FKTN):c.*2674A>G SNV Uncertain significance 912630 9:108400219-108400219 9:105637938-105637938
41 FKTN NM_001079802.2(FKTN):c.*2902C>T SNV Uncertain significance 912631 9:108400447-108400447 9:105638166-105638166
42 FKTN NM_001079802.2(FKTN):c.*3985C>T SNV Uncertain significance 912668 9:108401530-108401530 9:105639249-105639249
43 FKTN NM_001079802.2(FKTN):c.*4491T>C SNV Uncertain significance 912669 9:108402036-108402036 9:105639755-105639755
44 FKTN NM_001079802.2(FKTN):c.*4501A>G SNV Uncertain significance 912670 9:108402046-108402046 9:105639765-105639765
45 FKTN NM_006731.2(FKTN):c.207T>C (p.Asn69=) SNV Uncertain significance 701478 rs752921570 9:108363467-108363467 9:105601186-105601186
46 FKTN NM_001079802.2(FKTN):c.705A>G (p.Pro235=) SNV Uncertain significance 915193 9:108370157-108370157 9:105607876-105607876
47 FKTN NM_001079802.2(FKTN):c.766C>A (p.Arg256=) SNV Uncertain significance 390531 rs377417974 9:108370218-108370218 9:105607937-105607937
48 FKTN NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) SNV Uncertain significance 290479 rs558187116 9:108377598-108377598 9:105615317-105615317
49 FKTN NM_001079802.2(FKTN):c.910+7T>G SNV Uncertain significance 912485 9:108377695-108377695 9:105615414-105615414
50 FKTN NM_001079802.2(FKTN):c.*166A>G SNV Uncertain significance 915229 9:108397711-108397711 9:105635430-105635430

Expression for Fukuyama Type Muscular Dystrophy

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

Pathways for Fukuyama Type Muscular Dystrophy

Pathways related to Fukuyama Type Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 FKTN FKRP

GO Terms for Fukuyama Type Muscular Dystrophy

Cellular components related to Fukuyama Type Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.62 FKTN FKRP

Biological processes related to Fukuyama Type Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.96 FKTN FKRP
2 protein O-linked mannosylation GO:0035269 8.62 FKTN FKRP

Sources for Fukuyama Type Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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