MCID: CNG046
MIFTS: 49

Congenital Fiber-Type Disproportion malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Congenital Fiber-Type Disproportion

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Sources:
19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Congenital Fiber-Type Disproportion, Aliases & Descriptions:

Name: Congenital Fiber-Type Disproportion 19 21
Cftdm 19 41 21 47
Congenital Fiber Type Disproportion 41 20 43
Congenital Myopathy with Fiber Type Disproportion 21 22
Fiber-Type Disproportion Myopathy, Congenital 41 43
 
Congenital Fiber-Type Disproportion Myopathy 41 47
Myopathy, Congenital with Fiber-Type Disproportion 41
Congenital Myopathy with Fiber-Type Disproportion 19
Cftd 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 2020
ICD10 via Orphanet26 G71.2
UMLS via Orphanet61 C0546264

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 cftdm, is related to myopathy, congenital, with fiber-type disproportion and respiratory failure, and has symptoms including muscular hypotonia, reduced tendon reflexes and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is ACTA1 (actin, alpha 1, skeletal muscle), and among its related pathways are Selenium Pathway and RhoA signaling pathway. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skeletal muscle, and related mouse phenotypes are respiratory system and behavior/neurological.

NIH Rare Diseases:41 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:63 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews summary for cftd

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 Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion30.9RYR1, ACTA1, TPM3
2respiratory failure30.6ACTA1, RYR1
3myopathy30.6TPM2, SEPN1, MYH7, ACTA1, ITGA7, RYR1
4myotonic dystrophy30.5RYR1, MYH7, INSR
5myopathy, congenital, with fiber-type disproportion, x-linked10.8
6acta1-related congenital fiber-type disproportion10.6
7ryr1-related congenital fiber-type disproportion10.6
8sepn1-related congenital fiber-type disproportion10.5
9tpm3-related congenital fiber-type disproportion10.5
10myh7-related congenital fiber-type disproportion10.5
11tpm2-related congenital fiber-type disproportion10.5
12muscular dystrophy, rigid spine, 110.4SEPN1
13minicore myopathy with external ophthalmoplegia10.3
14lowe syndrome10.3
15clubfoot10.3
16qazi markouizos syndrome10.3
17leukodystrophy10.3
18melanoma10.3
19ophthalmoplegia10.3
20ptosis10.3
211p36 deletion syndrome10.3
22multiminicore disease10.3RYR1, SEPN1
23central core disease10.3RYR1, SEPN1
24malignant hyperthermia10.2SEPN1, RYR1
25distal arthrogryposis10.2TPM3, TPM2
26arrhythmogenic right ventricular cardiomyopathy10.2RYR1, PTPLA
27sudden cardiac death multi-gene panels10.2RYR1, MYH7
28myopathy, centronuclear10.1RYR1, PTPLA
29nemaline myopathy10.1ACTA1, TPM3, TPM2
30muscular dystrophy10.0ITGA7, SEPN1
31neuromuscular disease10.0RYR1, ACTA1
32hypertrophic cardiomyopathy10.0MYL2, MYH7
33congenital heart disease9.9RYR1, MYH7, INSR
34noonan syndrome 19.9RYR1, 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:

 47 (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 6)
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

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:

31
Eye, Heart, Skeletal muscle

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

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MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5INSR, SEPN1, MYL2, RYR1
2MP:00053868.4RYR1, 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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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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Clinvar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show all 27)
id Gene Variation 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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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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Pathways related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.6SEPN1, INSR
29.6MYL2, ACTA1
39.4MYL2, MYH7
4
Show member pathways
9.3RYR1, ITGA7, ACTA1
5
Show member pathways
Calcium Regulation in the Cardiac Cell36
9.2MYL2, 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
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
8.6MYH7, MYL2, ACTA1, ITGA7
14
Show member pathways
8.6ITGA7, ACTA1, MYL2, MYH7
15
Show member pathways
8.6ITGA7, ACTA1, MYL2, MYH7
16
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.1ITGA7, 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 Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin599.6MYH7, MYL2
2bts599.6MYH7, MYL2
3ryanodine43 28 5911.5RYR1, MYH7, SEPN1
4(s)-(-)-blebbistatin599.5MYH7, MYL2
5gsno439.5INSR, RYR1
6(+-)-blebbistatin599.4MYH7, MYL2
7isoproterenol43 1210.3INSR, MYH7, RYR1
8glutamine438.9RYR1, MYH7, INSR
9lipid438.9RYR1, ACTA1, MYH7, INSR
10creatinine438.6RYR1, ITGA7, ACTA1, MYH7, INSR
11calcium43 49 24 1210.9TPM2, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:00164599.4MYL2, MYH7
2muscle thin filament tropomyosinGO:00058629.4TPM3, TPM2
3stress fiberGO:00017259.3TPM3, MYH7, ACTA1
4sarcomereGO:00300179.1ACTA1, MYL2, MYH7

Biological processes related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:00487419.5RYR1, ACTA1
2ventricular cardiac muscle tissue morphogenesisGO:00550109.4MYL2, MYH7
3muscle contractionGO:00069368.5TPM2, TPM3, MYH7, ACTA1, RYR1
4muscle filament slidingGO:00300498.4ACTA1, MYL2, MYH7, TPM3, TPM2

Molecular functions related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.4MYL2, TPM2
2actin bindingGO:00037799.0MYH7, TPM3, TPM2

Products for genes affiliated with Congenital Fiber-Type Disproportion

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Sources for Congenital Fiber-Type Disproportion

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet