CFTD
MCID: CNG046
MIFTS: 60

Congenital Fiber-Type Disproportion (CFTD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Congenital Fiber-Type Disproportion

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Genetics Home Reference:21 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 based summary: Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to centronuclear 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 Selenium Pathway and RhoA signaling pathway. The compounds (r)-(+)-blebbistatin and ryanodine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and heart, and related mouse phenotypes are respiratory system and behavior/neurological.

NIH Rare Diseases:42 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, 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:65 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

Descriptions from OMIM:46 255310,300580

GeneReviews summary for cftd

Aliases & Classifications for Congenital Fiber-Type Disproportion

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Congenital Fiber-Type Disproportion, Aliases & Descriptions:

Name: Congenital Fiber-Type Disproportion 19 21
Congenital Fiber Type Disproportion 42 20 44 62
Cftdm 19 42 21 48
Myopathy, Congenital with Fiber-Type Disproportion 42 22
Fiber-Type Disproportion Myopathy, Congenital 42 44
 
Congenital Fiber-Type Disproportion Myopathy 42 48
Myopathy, Congenital, with Fiber-Type Disproportion 46
Congenital Myopathy with Fiber-Type Disproportion 19
Congenital Myopathy with Fiber Type Disproportion 21
Cftd 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 G71.2
UMLS via Orphanet63 C0546264

Related Diseases for Congenital Fiber-Type Disproportion

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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 35)
idRelated DiseaseScoreTop Affiliating Genes
1centronuclear myopathy30.7RYR1, PTPLA
2respiratory failure30.6ACTA1, RYR1
3myopathy30.6TPM2, SEPN1, MYH7, ACTA1, ITGA7, RYR1
4myotonic dystrophy30.5RYR1, MYH7, INSR
5myopathy, congenital, with fiber-type disproportion 110.6
6myopathy, congenital, with fiber-type disproportion, x-linked10.6
7acta1-related congenital fiber-type disproportion10.5
8ryr1-related congenital fiber-type disproportion10.5
9sepn1-related congenital fiber-type disproportion10.5
10tpm3-related congenital fiber-type disproportion10.5
11myh7-related congenital fiber-type disproportion10.5
12tpm2-related congenital fiber-type disproportion10.5
13insulin resistance10.5
14rigid spine syndrome10.4SEPN1
15clubfoot10.3
16qazi markouizos syndrome10.3
17leukodystrophy10.3
18melanoma10.3
19ophthalmoplegia10.3
201p36 deletion syndrome10.3
21myosin storage myopathy10.3
22multiminicore disease10.3RYR1, SEPN1
23central core myopathy10.3RYR1, SEPN1
24malignant hyperthermia10.2SEPN1, RYR1
25distal arthrogryposis10.2TPM3, TPM2
26arrhythmogenic right ventricular cardiomyopathy10.2RYR1, PTPLA
27sudden cardiac death multi-gene panels10.2RYR1, MYH7
28nemaline myopathy10.1ACTA1, TPM3, TPM2
29muscular dystrophy10.0ITGA7, SEPN1
30neuromuscular disease10.0RYR1, ACTA1
31familial hypertrophic cardiomyopathy10.0MYL2, MYH7
32hypertrophic cardiomyopathy9.9TPM3, MYH7, MYL2
33congenital heart disease9.9RYR1, MYH7, INSR
34noonan syndrome9.9RYR1, MYL2, MYH7
35myopathy congenital9.7SEPN1, MYH7, ACTA1, ITGA7, RYR1

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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Symptoms by clinical synopsis from OMIM:

255310

Clinical features from OMIM:

255310,300580

Symptoms:

48 (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

HPO human phenotypes related to Congenital Fiber-Type Disproportion:

(show all 34)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced tendon reflexes hallmark (90%) HP:0001315
3 myopathy hallmark (90%) HP:0003198
4 pectus excavatum typical (50%) HP:0000767
5 recurrent respiratory infections typical (50%) HP:0002205
6 scoliosis typical (50%) HP:0002650
7 scoliosis 25% HP:0002650
8 limb joint contracture 25% HP:0003121
9 ophthalmoplegia 20% HP:0000602
10 congenital hip dislocation 13% HP:0001374
11 autosomal dominant inheritance HP:0000006
12 high palate HP:0000218
13 narrow face HP:0000275
14 long face HP:0000276
15 ptosis HP:0000508
16 bulbar palsy HP:0001283
17 neonatal hypotonia HP:0001319
18 heterogeneous HP:0001425
19 failure to thrive HP:0001508
20 decreased fetal movement HP:0001558
21 weak cry HP:0001612
22 dilated cardiomyopathy HP:0001644
23 dysphagia HP:0002015
24 respiratory insufficiency HP:0002093
25 respiratory insufficiency due to muscle weakness HP:0002747
26 lumbar hyperlordosis HP:0002938
27 generalized muscle weakness HP:0003324
28 congenital onset HP:0003577
29 centrally nucleated skeletal muscle fibers HP:0003687
30 proximal muscle weakness HP:0003701
31 type 1 fibers relatively smaller than type 2 fibers HP:0003755
32 variable expressivity HP:0003828
33 facial palsy HP:0010628
34 feeding difficulties HP:0011968

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

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Drug clinical trials:

Search ClinicalTrials for Congenital Fiber-Type Disproportion

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

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Genetic tests related to Congenital Fiber-Type Disproportion:

id Genetic test Affiliating Genes
1 Congenital Fiber-Type Disproportion20 TPM3
2 Congenital Myopathy with Fiber Type Disproportion22

Anatomical Context for Congenital Fiber-Type Disproportion

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

32
Skeletal muscle, Eye, Heart

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

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MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5RYR1, MYL2, SEPN1, INSR
2MP:00053868.4RYR1, ITGA7, ACTA1, SEPN1, INSR
3MP:00053787.8INSR, SEPN1, MYL2, ACTA1, ITGA7, RYR1
4MP:00053767.8SEPN1, MYL2, ACTA1, ITGA7, RYR1, INSR
5MP:00053697.6SEPN1, MYL2, ACTA1, ITGA7, RYR1, INSR
6MP:00107687.5RYR1, ITGA7, ACTA1, MYL2, TPM3, INSR

Publications for Congenital Fiber-Type Disproportion

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Articles related to Congenital Fiber-Type Disproportion:

(show all 40)
idTitleAuthorsYear
1
Congenital fiber type disproportion myopathy caused by LMNA mutations. (24642510)
2014
2
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)
2013
3
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. (21864970)
2012
4
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
5
Congenital fiber-type disproportion. (22172422)
2011
6
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)
2010
7
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)
2010
8
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
9
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
10
Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)
2008
11
The pathogenesis of ACTA1-related congenital fiber type disproportion. (17387733)
2007
12
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. (16941741)
2006
13
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (16365872)
2006
14
An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. (15960177)
2005
15
A novel X-linked form of congenital fiber-type disproportion. (16173074)
2005
16
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. (15696781)
2005
17
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)
2004
18
Congenital fiber type disproportion--30 years on. (14575234)
2003
19
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
20
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. (10828713)
2000
21
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
22
Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)
1999
23
Congenital fiber type disproportion: severe form with marked improvement. (10513694)
1999
24
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. (9343958)
1997
25
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. (9484111)
1997
26
Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)
1996
27
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. (8745394)
1996
28
Congenital Fiber-Type Disproportion (20301436)
1993
29
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)
1992
30
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)
1992
31
Congenital fiber type disproportion: report of one case. (2284944)
1990
32
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)
1990
33
Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)
1989
34
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)
1988
35
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)
1988
36
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)
1985
37
Congenital fiber type disproportion with fatal outcome: a case report. (7341555)
1981
38
Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)
1981
39
Clinical variability in congenital fiber type disproportion. (7381515)
1980
40
Congenital fiber type disproportion in identical twins. (569460)
1977

Variations for Congenital Fiber-Type Disproportion

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UniProtKB/Swiss-Prot genetic disease variations for Congenital Fiber-Type Disproportion:

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1ACTA1p.Leu223ProVAR_032917
2ACTA1p.Asp294ValVAR_032918
3ACTA1p.Pro334SerVAR_032919
4RYR1p.Met402ThrVAR_063846
5RYR1p.His2035LeuVAR_063847
6RYR1p.Asn3326LysVAR_063848
7RYR1p.Cys3402GlyVAR_063849
8TPM3p.Leu100MetVAR_070066
9TPM3p.Arg168CysVAR_070067
10TPM3p.Arg168GlyVAR_070068
11TPM3p.Lys169GluVAR_070070
12TPM3p.Arg245GlyVAR_070071
13TPM3p.Ala4ValVAR_071499
14TPM3p.Arg91ProVAR_071502
15TPM3p.Leu100ValVAR_071503
16TPM3p.Glu174AlaVAR_071506
17TPM3p.Glu241LysVAR_071507

Clinvar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (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 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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Expression patterns in normal tissues for genes affiliated with Congenital Fiber-Type Disproportion

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Pathways for genes affiliated with Congenital Fiber-Type Disproportion

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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
1
Show member pathways
thioredoxin pathway37
9.6SEPN1, INSR
29.5MYL2, ACTA1
39.4MYL2, MYH7
4
Show member pathways
9.2RYR1, ITGA7, ACTA1
5
Show member pathways
Calcium Regulation in the Cardiac Cell37
9.1MYL2, ACTA1, RYR1
6
Show member pathways
9.1MYH7, MYL2, ACTA1
7
Show member pathways
9.1ACTA1, MYL2, MYH7
8
Show member pathways
9.1ITGA7, ACTA1, INSR
9
Show member pathways
9.1RYR1, ITGA7, INSR
10
Show member pathways
8.8TPM2, TPM3, MYL2, ACTA1
118.7MYL2, MYH7, TPM3, TPM2
128.7MYL2, MYH7, TPM3, TPM2
13
Show member pathways
8.6ITGA7, ACTA1, MYL2, MYH7
14
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.6MYH7, MYL2, ACTA1, ITGA7
15
Show member pathways
8.6ITGA7, ACTA1, MYL2, MYH7
16
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
8.2ITGA7, MYL2, MYH7, TPM3, TPM2
17
Show member pathways
8.1INSR, MYH7, MYL2, ACTA1, ITGA7
18
Show member pathways
8.1INSR, MYH7, MYL2, ACTA1, ITGA7

Compounds for genes affiliated with Congenital Fiber-Type Disproportion

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

(show all 11)
idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin619.6MYH7, MYL2
2ryanodine44 28 6111.6RYR1, MYH7, SEPN1
3bts619.6MYH7, MYL2
4(s)-(-)-blebbistatin619.5MYH7, MYL2
5gsno449.5INSR, RYR1
6(+-)-blebbistatin619.4MYH7, MYL2
7isoproterenol44 1110.3INSR, MYH7, RYR1
8glutamine448.9RYR1, MYH7, INSR
9lipid448.8RYR1, ACTA1, MYH7, INSR
10creatinine448.5RYR1, ITGA7, ACTA1, MYH7, INSR
11calcium44 50 24 1110.9TPM2, TPM3, SEPN1, MYH7, MYL2, ACTA1

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

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Cellular components related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:0164599.4MYL2, MYH7
2muscle thin filament tropomyosinGO:0058629.4TPM3, TPM2
3stress fiberGO:0017259.3TPM3, MYH7, ACTA1
4sarcomereGO:0300179.1ACTA1, MYL2, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:0487419.5RYR1, ACTA1
2ventricular cardiac muscle tissue morphogenesisGO:0550109.4MYL2, MYH7
3muscle contractionGO:0069368.5TPM2, TPM3, MYH7, ACTA1, RYR1
4muscle filament slidingGO:0300498.3ACTA1, MYL2, MYH7, TPM3, TPM2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.4MYL2, TPM2
2actin bindingGO:0037799.0MYH7, TPM3, TPM2

Products for genes affiliated with Congenital Fiber-Type Disproportion

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Fiber-Type Disproportion

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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