MCID: CNG046
MIFTS: 48

Congenital Fiber-Type Disproportion malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Congenital Fiber-Type Disproportion

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Sources:
21GeneReviews, 23Genetics Home Reference, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 21 23
Cftdm 21 45 22 23 51
Congenital Fiber Type Disproportion 45 22 47
Myopathy, Congenital with Fiber-Type Disproportion 45 22
Congenital Myopathy with Fiber Type Disproportion 23 24
 
Fiber-Type Disproportion Myopathy, Congenital 45 47
Congenital Fiber-Type Disproportion Myopathy 45 51
Congenital Myopathy with Fiber-Type Disproportion 21
Cftd 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 2020
ICD10 via Orphanet28 G71.2
UMLS via Orphanet66 C0546264

Summaries for Congenital Fiber-Type Disproportion

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Genetics Home Reference:23 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 minicore myopathy with external ophthalmoplegia and myopathy, congenital, with fiber-type disproportion, and has symptoms including muscular hypotonia, reduced tendon reflexes and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle, heart and eye, and related mouse phenotypes are adipose tissue and skeleton.

NIH Rare Diseases:45 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:68 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 Myh7-Related Congenital Fiber-Type Disproportion
Ryr1-Related Congenital Fiber-Type Disproportion Sepn1-Related Congenital Fiber-Type Disproportion
Tpm2-Related Congenital Fiber-Type Disproportion Tpm3-Related Congenital Fiber-Type Disproportion

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1minicore myopathy with external ophthalmoplegia30.5DMD, MYH7, RYR1, SEPN1
2myopathy, congenital, with fiber-type disproportion30.4ACTA1, HACD1, MYH7, RYR1, SEPN1, TPM3
3myopathy10.9
4myopathy, congenital, with fiber-type disproportion, x-linked10.8
5acta1-related congenital fiber-type disproportion10.6
6ryr1-related congenital fiber-type disproportion10.6
7myh7-related congenital fiber-type disproportion10.5
8sepn1-related congenital fiber-type disproportion10.5
9tpm2-related congenital fiber-type disproportion10.5
10tpm3-related congenital fiber-type disproportion10.5
11nemaline myopathy 1, autosomal dominant or recessive10.3ACTA1, TPM3
12intermediate severe salla disease10.3ACTA1, TPM3
13lowe syndrome10.3
14qazi markouizos syndrome10.3
15clubfoot10.3
16leukodystrophy10.3
17melanoma10.3
18ophthalmoplegia10.3
19ptosis10.3
20respiratory failure10.3
211p36 deletion syndrome10.3
22myotonic dystrophy10.3
23cardiomyopathy10.3
24x-linked cleft palate and ankyloglossia10.3MYH7, SEPN1
25tyrosine-oxidase temporary deficiency10.3ACTA1, TPM2
26multiple epiphyseal dysplasia, dominant10.3RYR1, SEPN1
27scrub typhus10.2RYR1, SEPN1
28myasthenia gravis10.2RYR1, TPM3
29mesenchymal chondrosarcoma10.2TPM2, TPM3
30enamel hypoplasia cataract hydrocephaly10.2EMD, LMNA
31obstructive jaundice10.2DYSF, SEPN1
32childhood-onset schizophrenia10.2ACTA1, TPM2, TPM3
33robinow syndrome10.2ACTA1, MYH7, SEPN1
34carbon baby syndrome10.2ACTA1, TPM2, TPM3
35emery-dreifuss muscular dystrophy 2, ad10.2EMD, LMNA
36myopathy with deficiency of iscu10.2DMD, SEPN1
37schwannoma of twelfth cranial nerve10.2ACTA1, TPM2, TPM3
38muscular dystrophy, rigid spine, 110.2ACTA1, DMD, SEPN1
39lockwood feingold syndrome10.2DMD, DYSF
40esophageal neuroendocrine tumor10.2TPM2, TPM3
41pelger-huet anomaly10.1EMD, LMNA
42stormorken syndrome10.1DMD, DYSF
43lymphatic system disease10.1TPM2, TPM3
44lmna-related muscle diseases10.1DMD, DYSF
45cardiomyopathy, hypertrophic, 2510.1DMD, DYSF
46myopathy congenital multicore with external ophthalmoplegia10.1ACTA1, RYR1, SEPN1, TPM3
47sarcoidosis, susceptibility 210.1DMD, DYSF
48muscular dystrophy, limb-girdle, type 2f10.1DMD, DYSF
49cerebral-cerebellar-coloboma syndrome, x-linked10.1DMD, EMD
50bethlem myopathy 110.1DMD, LMNA, 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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Symptoms:

 51 (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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Disproportion22 TPM3
2 Congenital Myopathy with Fiber Type Disproportion24

Anatomical Context for Congenital Fiber-Type Disproportion

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

33
Skeletal muscle, Heart, Eye

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

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MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7ACTA1, DMD, INSR, LMNA, RYR1
2MP:00053908.3ACTA1, DMD, GALC, ITGA7, LMNA, RYR1
3MP:00053708.2ACTA1, DMD, GALC, INSR, LMNA, MYL2
4MP:00053888.0DMD, INSR, LMNA, MYL2, RYR1, SEPN1
5MP:00053857.2DMD, EMD, GALC, INSR, ITGA7, LMNA
6MP:00053787.1ACTA1, DMD, GALC, INSR, ITGA7, LMNA
7MP:00053847.0DMD, EMD, GALC, INSR, ITGA7, LMNA
8MP:00053766.2ACTA1, DMD, DYSF, GALC, INSR, ITGA7
9MP:00053865.7ACTA1, DMD, DYSF, EMD, GALC, INSR
10MP:00053695.7ACTA1, DMD, DYSF, EMD, GALC, INSR

Publications for Congenital Fiber-Type Disproportion

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Articles related to Congenital Fiber-Type Disproportion:

(show all 41)
idTitleAuthorsYear
1
Congenital fiber type disproportion. (26526626)
2015
2
Congenital fiber type disproportion myopathy caused by LMNA mutations. (24642510)
2014
3
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)
2013
4
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. (21864970)
2012
5
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
6
Congenital fiber-type disproportion. (22172422)
2011
7
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)
2010
8
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)
2010
9
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
10
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
11
Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)
2008
12
The pathogenesis of ACTA1-related congenital fiber type disproportion. (17387733)
2007
13
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. (16941741)
2006
14
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (16365872)
2006
15
An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. (15960177)
2005
16
A novel X-linked form of congenital fiber-type disproportion. (16173074)
2005
17
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. (15696781)
2005
18
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)
2004
19
Congenital fiber type disproportion--30 years on. (14575234)
2003
20
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
21
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. (10828713)
2000
22
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
23
Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)
1999
24
Congenital fiber type disproportion: severe form with marked improvement. (10513694)
1999
25
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. (9343958)
1997
26
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. (9484111)
1997
27
Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)
1996
28
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. (8745394)
1996
29
Congenital Fiber-Type Disproportion (20301436)
1993
30
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)
1992
31
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)
1992
32
Congenital fiber type disproportion: report of one case. (2284944)
1990
33
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)
1990
34
Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)
1989
35
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)
1988
36
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)
1988
37
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)
1985
38
Congenital fiber type disproportion with fatal outcome: a case report. (7341555)
1981
39
Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)
1981
40
Clinical variability in congenital fiber type disproportion. (7381515)
1980
41
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:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1TPM3NM_152263.3(TPM3): c.503G> A (p.Arg168His)single nucleotide variantPathogenicrs121964852GRCh37Chr 1, 154145447: 154145447
2TPM3NM_152263.3(TPM3): c.298C> A (p.Leu100Met)single nucleotide variantPathogenicrs121964853GRCh37Chr 1, 154148670: 154148670
3TPM3NM_152263.3(TPM3): c.502C> G (p.Arg168Gly)single nucleotide variantPathogenicrs121964854GRCh37Chr 1, 154145448: 154145448
4TPM3NM_152263.3(TPM3): c.502C> T (p.Arg168Cys)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
8SEPN1NM_020451.2(SEPN1): c.872+2T> Csingle nucleotide variantPathogenicrs794727808GRCh37Chr 1, 26135643: 26135643
9SEPN1NM_020451.2(SEPN1): c.827_829dupCCT (p.Ala276_Cys277insSer)duplicationLikely pathogenicrs797045950GRCh37Chr 1, 26135596: 26135598
10NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionPathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
11MYH7NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)single nucleotide variantPathogenicrs367543053GRCh37Chr 14, 23882064: 23882064
12RYR1NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly)single nucleotide variantPathogenicrs367543058GRCh37Chr 19, 39010039: 39010039
13RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)single nucleotide variantPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
14RYR1NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)single nucleotide variantPathogenicrs143849895GRCh37Chr 19, 39057593: 39057593
15RYR1NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)single nucleotide variantPathogenicrs367543055GRCh37Chr 19, 38976628: 38976628
16RYR1NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)single nucleotide variantPathogenicrs367543056GRCh37Chr 19, 38981349: 38981349
17RYR1NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)single nucleotide variantPathogenicrs367543054GRCh37Chr 19, 38937346: 38937346
18RYR1NM_000540.2(RYR1): c.9000+1G> Tsingle nucleotide variantPathogenicrs111364670GRCh37Chr 19, 39001206: 39001206
19RYR1NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)single nucleotide variantPathogenicrs367543057GRCh37Chr 19, 39008291: 39008291
20ACTA1NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)single nucleotide variantPathogenicrs367543049GRCh37Chr 1, 229568614: 229568614
21ACTA1NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)single nucleotide variantPathogenicrs367543048GRCh37Chr 1, 229568847: 229568847
22ACTA1NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)single nucleotide variantPathogenicrs367543050GRCh37Chr 1, 229567928: 229567928
23ACTA1NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)single nucleotide variantPathogenicrs367543051GRCh37Chr 1, 229567822: 229567822
24TPM3NM_152263.3(TPM3): c.11C> T (p.Ala4Val)single nucleotide variantPathogenicrs199474711GRCh37Chr 1, 154164484: 154164484
25TPM3NM_152263.3(TPM3): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs199474713GRCh37Chr 1, 154148696: 154148696
26TPM3NM_152263.3(TPM3): c.505A> G (p.Lys169Glu)single nucleotide variantPathogenicrs199474715GRCh37Chr 1, 154145445: 154145445
27TPM3NM_152263.3(TPM3): c.721G> A (p.Glu241Lys)single nucleotide variantPathogenicrs199474717GRCh37Chr 1, 154142930: 154142930
28TPM3NM_152263.3(TPM3): c.733A> G (p.Arg245Gly)single nucleotide variantPathogenicrs199474718GRCh37Chr 1, 154142918: 154142918
29SEPN1NM_020451.2(SEPN1): c.713dupA (p.Asn238Lysfs)duplicationPathogenicrs368104077GRCh38Chr 1, 25808755: 25808755
30SEPN1NM_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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MYH7, MYL2
29.6ACTA1, DMD
3
Show member pathways
9.5EMD, LMNA
49.4MYH7, MYL2, TPM2, TPM3
5
Show member pathways
9.3ACTA1, ITGA7, MYH7, MYL2
6
Show member pathways
8.8INSR, MYH7, MYL2, TPM2, TPM3
7
Show member pathways
8.8ACTA1, INSR, ITGA7, MYH7, MYL2
8
Show member pathways
8.5ACTA1, DMD, ITGA7, LMNA, RYR1
9
Show member pathways
7.9ACTA1, DMD, DYSF, MYL2, TPM2, TPM3
10
Show member pathways
7.4DMD, EMD, ITGA7, LMNA, MYH7, MYL2

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
1muscle thin filament tropomyosinGO:000586210.3TPM2, TPM3
2stress fiberGO:000172510.0ACTA1, MYH7, TPM3
3sarcomereGO:00300179.8ACTA1, MYH7, MYL2
4sarcolemmaGO:00423838.7DMD, DYSF, ITGA7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of the force of heart contractionGO:000202610.2MYH7, MYL2
2cellular response to caffeineGO:007131310.2RYR1, SEPN1
3ventricular cardiac muscle tissue morphogenesisGO:005501010.1MYH7, MYL2
4skeletal muscle fiber developmentGO:004874110.0ACTA1, RYR1, SEPN1
5mitotic nuclear envelope reassemblyGO:00070849.9EMD, LMNA
6cardiac muscle contractionGO:00600489.3DMD, MYH7, MYL2
7muscle fiber developmentGO:00487479.2DMD, MYL2
8muscle contractionGO:00069368.7ACTA1, EMD, MYH7, RYR1, TPM2, TPM3
9muscle organ developmentGO:00075178.5DMD, EMD, ITGA7, LMNA
10muscle filament slidingGO:00300498.4ACTA1, DMD, MYH7, MYL2, TPM2, TPM3

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.6ACTA1, DMD
2structural constituent of muscleGO:00083078.9DMD, MYL2, TPM2
3actin bindingGO:00037798.4DMD, EMD, MYH7, TPM2, TPM3

Sources for Congenital Fiber-Type Disproportion

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet