CFTD
MCID: CNG046
MIFTS: 59

Congenital Fiber-Type Disproportion (CFTD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Congenital Fiber-Type Disproportion

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Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Congenital fiber-type disproportion is a disorder that primarily affects skeletal muscles, which are muscles the body uses for movement. People with this disorder typically experience muscle weakness (myopathy) throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Affected people may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require extra support and use a detachable mask (noninvasive mechanical ventilation) to help them breathe at night, and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).

MalaCards: Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to myopathy and respiratory failure, and has symptoms including hypotonia, areflexia/hyporeflexia and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (tropomyosin 3), and among its related pathways are RhoA signaling pathway and Selenium Pathway. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are respiratory system and behavior/neurological.

NIH Rare Diseases:44 Congenital fiber type disproportion is a type of congenital myopathy. congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems. it is a genetic disease caused by mutations in the acta1, sepn1,Ā ryr1 or tpm3 genes. depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or x-linked manner. last updated: 9/5/2012

Wikipedia:66 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

Description from OMIM:48 255310,300580

GeneReviews summary for cftd

Aliases & Classifications for Congenital Fiber-Type Disproportion

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Sources:
20GeneReviews, 22Genetics Home Reference, 44NIH Rare Diseases, 50Orphanet, 21GeneTests, 46Novoseek, 63UMLS, 23GTR, 48OMIM, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital fiber-type disproportion 20 22
congenital fiber type disproportion 44 21 46 63
cftdm 20 44 22 50
myopathy, congenital with fiber-type disproportion 44 23
fiber-type disproportion myopathy, congenital 44 46
congenital fiber-type disproportion myopathy 44 50
myopathy, congenital, with fiber-type disproportion 48
myopathy congenital, with fiber-type disproportion 48
congenital myopathy with fiber type disproportion 22
congenital myopathy with fiber-type disproportion 20
cftd 22


External Ids:

UMLS via Orphanet64 C0546264
ICD10 via Orphanet27 G71.2
SNOMED-CT via Orphanet60 240084007

Related Diseases for Congenital Fiber-Type Disproportion

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18GeneCards, 19GeneDecks
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Diseases in the Congenital Fiber-Type Disproportion family:

Acta1-Related Congenital Fiber-Type Disproportion Sepn1-Related Congenital Fiber-Type Disproportion
Tpm3-Related Congenital Fiber-Type Disproportion Myh7-Related Congenital Fiber-Type Disproportion
Ryr1-Related Congenital Fiber-Type Disproportion Tpm2-Related Congenital Fiber-Type Disproportion

Diseases related to Congenital Fiber-Type Disproportion via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.1RYR1, TPM2, SEPN1, MYH7, ACTA1, ITGA7
2respiratory failure30.5ACTA1, RYR1
3centronuclear myopathy30.5RYR1, PTPLA
4myotonic dystrophy30.4INSR, MYH7, RYR1
5myopathy, congenital, with fiber-type disproportion 110.6
6myopathy, congenital, with fiber-type disproportion, x-linked10.6
7acta1-related congenital fiber-type disproportion10.5
8tpm3-related congenital fiber-type disproportion10.5
9ryr1-related congenital fiber-type disproportion10.5
10sepn1-related congenital fiber-type disproportion10.4
11myh7-related congenital fiber-type disproportion10.4
12tpm2-related congenital fiber-type disproportion10.4
13insulin resistance10.4
14clubfoot10.3
15qazi markouizos syndrome10.3
16leukodystrophy10.3
17melanoma10.3
18ophthalmoplegia10.3
191p36 deletion syndrome10.3
20congenital myotonic dystrophy10.3
21myosin storage myopathy10.3
22rigid spine syndrome10.1SEPN1
23multiminicore disease10.1SEPN1, RYR1
24central core myopathy10.1SEPN1, RYR1
25distal arthrogryposis10.1TPM2, TPM3
26malignant hyperthermia10.1SEPN1, RYR1
27arrhythmogenic right ventricular dysplasia10.0PTPLA, RYR1
28sudden cardiac death multi-gene panels10.0RYR1, MYH7
29nemaline myopathy10.0ACTA1, TPM2, TPM3
30muscular dystrophy10.0ITGA7, SEPN1
31neuromuscular disease10.0ACTA1, RYR1
32familial hypertrophic cardiomyopathy10.0MYL2, MYH7
33hypertrophic cardiomyopathy10.0TPM3, MYH7, MYL2
34congenital heart disease10.0RYR1, MYH7, INSR
35noonan syndrome10.0RYR1, MYH7, MYL2
36hypertrophy of breast9.9MYL2, MYH7, ACTA1
37myopathy congenital9.9ITGA7, MYH7, ACTA1, RYR1, SEPN1

Graphical network of the top 20 diseases related to Congenital Fiber-Type Disproportion:



Diseases related to congenital fiber-type disproportion

Symptoms for Congenital Fiber-Type Disproportion

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

255310

Clinical features from OMIM:

255310,300580

Symptoms:

50 (show all 8)
  • hypotonia
  • areflexia/hyporeflexia
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • pectus excavatum
  • scoliosis
  • repeat respiratory infections

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Fiber-Type Disproportion

Drug clinical trials:

Search ClinicalTrials for Congenital Fiber-Type Disproportion

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Search CenterWatch for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

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21GeneTests, 23GTR
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Genetic tests related to Congenital Fiber-Type Disproportion:

id Genetic test Affiliating Genes
1 Congenital Fiber-Type Disproportion21 TPM3
2 Congenital Myopathy with Fiber Type Disproportion23

Anatomical Context for Congenital Fiber-Type Disproportion

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34MalaCards
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MalaCards organs/tissues related to Congenital Fiber-Type Disproportion:

34
Skeletal muscle

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5INSR, SEPN1, MYL2, RYR1
2MP:00053868.3RYR1, ITGA7, ACTA1, SEPN1, INSR
3MP:00053787.9INSR, SEPN1, MYL2, ACTA1, ITGA7, RYR1
4MP:00053767.8INSR, SEPN1, MYL2, ACTA1, ITGA7, RYR1
5MP:00053697.6RYR1, INSR, TPM3, SEPN1, MYL2, ACTA1
6MP:00107687.5INSR, TPM3, MYL2, ACTA1, ITGA7, RYR1

Publications for Congenital Fiber-Type Disproportion

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53PubMed
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Articles related to Congenital Fiber-Type Disproportion:

(show all 39)
idTitleAuthorsYear
1
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)
2013
2
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. (21864970)
2012
3
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
4
Congenital fiber-type disproportion. (22172422)
2011
5
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)
2010
6
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)
2010
7
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
8
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
9
Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)
2008
10
The pathogenesis of ACTA1-related congenital fiber type disproportion. (17387733)
2007
11
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. (16941741)
2006
12
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (16365872)
2006
13
An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. (15960177)
2005
14
A novel X-linked form of congenital fiber-type disproportion. (16173074)
2005
15
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. (15696781)
2005
16
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)
2004
17
Congenital fiber type disproportion--30 years on. (14575234)
2003
18
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
19
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. (10828713)
2000
20
Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). (10844410)
1999
21
Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)
1999
22
Congenital fiber type disproportion: severe form with marked improvement. (10513694)
1999
23
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. (9343958)
1997
24
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. (9484111)
1997
25
Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)
1996
26
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. (8745394)
1996
27
Congenital Fiber-Type Disproportion (20301436)
1993
28
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)
1992
29
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)
1992
30
Congenital fiber type disproportion: report of one case. (2284944)
1990
31
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)
1990
32
Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)
1989
33
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)
1988
34
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)
1988
35
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)
1985
36
Congenital fiber type disproportion with fatal outcome: a case report. (7341555)
1981
37
Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)
1981
38
Clinical variability in congenital fiber type disproportion. (7381515)
1980
39
Congenital fiber type disproportion in identical twins. (569460)
1977

Variations for Congenital Fiber-Type Disproportion

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Fiber-Type Disproportion:

65 (show all 24)
id Symbol AA change Variation ID SNP ID
1ACTA1p.Leu223ProVAR_032917
2ACTA1p.Leu223ProVAR_032917
3ACTA1p.Asp294ValVAR_032918
4ACTA1p.Asp294ValVAR_032918
5ACTA1p.Pro334SerVAR_032919
6ACTA1p.Pro334SerVAR_032919
7RYR1p.Met402ThrVAR_063846
8RYR1p.Met402ThrVAR_063846
9RYR1p.His2035LeuVAR_063847
10RYR1p.His2035LeuVAR_063847
11RYR1p.Asn3326LysVAR_063848
12RYR1p.Asn3326LysVAR_063848
13RYR1p.Cys3402GlyVAR_063849
14RYR1p.Cys3402GlyVAR_063849
15TPM3p.Leu100MetVAR_070066
16TPM3p.Leu100MetVAR_070066
17TPM3p.Arg168CysVAR_070067
18TPM3p.Arg168CysVAR_070067
19TPM3p.Arg168GlyVAR_070068
20TPM3p.Arg168GlyVAR_070068
21TPM3p.Lys169GluVAR_070070
22TPM3p.Lys169GluVAR_070070
23TPM3p.Arg245GlyVAR_070071
24TPM3p.Arg245GlyVAR_070071

Clinvar genetic disease variations for Congenital Fiber-Type Disproportion:

1 (show all 27)
id Gene Name Type Significance SNP ID Assembly Location
1TPM3NM_001043353.1(TPM3): c.392G> A (p.Arg131His)single nucleotide variantPathogenicrs121964852GRCh37Chr 1, 154145447: 154145447
2TPM3NM_001043353.1(TPM3): c.187C> A (p.Leu63Met)single nucleotide variantPathogenicrs121964853GRCh37Chr 1, 154148670: 154148670
3TPM3NM_001043353.1(TPM3): c.391C> G (p.Arg131Gly)single nucleotide variantPathogenicrs121964854GRCh37Chr 1, 154145448: 154145448
4TPM3NM_001043353.1(TPM3): c.391C> T (p.Arg131Cys)single nucleotide variantPathogenicrs121964854GRCh37Chr 1, 154145448: 154145448
5ACTA1NM_001100.3(ACTA1): c.881A> T (p.Asp294Val)single nucleotide variantPathogenicrs121909529GRCh37Chr 1, 229567577: 229567577
6ACTA1NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs121909530GRCh37Chr 1, 229567881: 229567881
7ACTA1NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser)single nucleotide variantPathogenicrs121909531GRCh37Chr 1, 229567380: 229567380
8MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionLikely pathogenic, Pathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
9MYH7NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)single nucleotide variantPathogenicrs367543053GRCh37Chr 14, 23882064: 23882064
10RYR1NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly)single nucleotide variantPathogenicrs367543058GRCh37Chr 19, 39010039: 39010039
11RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)single nucleotide variantPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
12RYR1NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)single nucleotide variantPathogenicrs143849895GRCh37Chr 19, 39057593: 39057593
13RYR1NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)single nucleotide variantPathogenicrs367543055GRCh37Chr 19, 38976628: 38976628
14RYR1NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)single nucleotide variantPathogenicrs367543056GRCh37Chr 19, 38981349: 38981349
15RYR1NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)single nucleotide variantPathogenicrs367543054GRCh37Chr 19, 38937346: 38937346
16RYR1NM_000540.2(RYR1): c.9000+1G> Tsingle nucleotide variantPathogenicrs111364670GRCh37Chr 19, 39001206: 39001206
17RYR1NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)single nucleotide variantPathogenicrs367543057GRCh37Chr 19, 39008291: 39008291
18ACTA1NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)single nucleotide variantPathogenicrs367543049GRCh37Chr 1, 229568614: 229568614
19ACTA1NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)single nucleotide variantPathogenicrs367543048GRCh37Chr 1, 229568847: 229568847
20ACTA1NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)single nucleotide variantPathogenicrs367543050GRCh37Chr 1, 229567928: 229567928
21ACTA1NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)single nucleotide variantPathogenicrs367543051GRCh37Chr 1, 229567822: 229567822
22TPM3NM_152263.3(TPM3): c.11C> T (p.Ala4Val)single nucleotide variantPathogenicrs199474711GRCh37Chr 1, 154164484: 154164484
23TPM3NM_001043353.1(TPM3): c.161G> C (p.Arg54Pro)single nucleotide variantPathogenicrs199474713GRCh37Chr 1, 154148696: 154148696
24TPM3NM_001043353.1(TPM3): c.394A> G (p.Lys132Glu)single nucleotide variantPathogenicrs199474715GRCh37Chr 1, 154145445: 154145445
25TPM3NM_001043353.1(TPM3): c.610G> A (p.Glu204Lys)single nucleotide variantPathogenicrs199474717GRCh37Chr 1, 154142930: 154142930
26TPM3NM_001043353.1(TPM3): c.622A> G (p.Arg208Gly)single nucleotide variantPathogenicrs199474718GRCh37Chr 1, 154142918: 154142918
27SEPN1NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)single nucleotide variantPathogenicrs121908188GRCh37Chr 1, 26136244: 26136244

Expression for genes affiliated with Congenital Fiber-Type Disproportion

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Fiber-Type Disproportion

Search GEO for disease gene expression data for Congenital Fiber-Type Disproportion.

Pathways for genes affiliated with Congenital Fiber-Type Disproportion

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Sources:
51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 31KEGG, 61Thomson Reuters
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Pathways related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MYL2, ACTA1
2
Show member pathways
thioredoxin pathway39
9.6SEPN1, INSR
3
Show member pathways
9.2ITGA7, ACTA1, INSR
49.2MYL2, MYH7
5
Show member pathways
9.1RYR1, ITGA7, ACTA1
6
Show member pathways
Calcium Regulation in the Cardiac Cell39
9.1MYL2, ACTA1, RYR1
7
Show member pathways
9.0TPM2, TPM3, MYL2, ACTA1
8
Show member pathways
8.9RYR1, ITGA7, INSR
9
Show member pathways
8.9MYH7, MYL2, ACTA1
10
Show member pathways
8.9ACTA1, MYL2, MYH7
118.5MYL2, MYH7, TPM3, TPM2
128.5MYL2, MYH7, TPM3, TPM2
13
Show member pathways
8.4ITGA7, ACTA1, MYL2, MYH7
14
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
8.4MYH7, MYL2, ACTA1, ITGA7
15
Show member pathways
8.4ITGA7, ACTA1, MYL2, MYH7
16
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
8.1ITGA7, MYL2, MYH7, TPM3, TPM2
17
Show member pathways
7.9INSR, MYH7, MYL2, ACTA1, ITGA7
18
Show member pathways
7.9INSR, MYH7, MYL2, ACTA1, ITGA7

Compounds for genes affiliated with Congenital Fiber-Type Disproportion

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Sources:
62Tocris Bioscience, 46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin629.3MYH7, MYL2
2bts629.3MYH7, MYL2
3(s)-(-)-blebbistatin629.3MYH7, MYL2
4gsno469.2INSR, RYR1
5(+-)-blebbistatin629.2MYH7, MYL2
6ryanodine46 30 6210.9RYR1, MYH7, SEPN1
7isoproterenol46 129.7INSR, MYH7, RYR1
8glutamine468.2RYR1, MYH7, INSR
9lipid468.2RYR1, ACTA1, MYH7, INSR
10creatinine468.0RYR1, ITGA7, ACTA1, MYH7, INSR
11calcium46 52 25 1210.5TPM2, TPM3, SEPN1, MYH7, MYL2, ACTA1

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

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Sources:
17Gene Ontology
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Cellular components related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:0058629.5TPM3, TPM2
2myosin complexGO:0164599.2MYL2, MYH7
3stress fiberGO:0017258.9TPM3, MYH7, ACTA1
4sarcomereGO:0300178.9ACTA1, MYL2, MYH7

Biological processes related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:0487419.2RYR1, ACTA1
2ventricular cardiac muscle tissue morphogenesisGO:0550109.2MYL2, MYH7
3muscle filament slidingGO:0300498.2ACTA1, MYL2, MYH7, TPM3, TPM2
4muscle contractionGO:0069367.9TPM2, TPM3, MYH7, ACTA1, RYR1

Molecular functions related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.6MYL2, TPM2
2actin bindingGO:0037798.7MYH7, TPM3, TPM2

Products for genes affiliated with Congenital Fiber-Type Disproportion

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Fiber-Type Disproportion

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet