MCID: CNG046
MIFTS: 47

Congenital Fiber-Type Disproportion malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Congenital Fiber-Type Disproportion

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Sources:
10Disease Ontology, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45NIH Rare Diseases, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 10 21 22 23 12
Cftdm 21 45 22 23 51
Congenital Myopathy with Fiber-Type Disproportion 21 22
Congenital Myopathy with Fiber Type Disproportion 23 24
Fiber-Type Disproportion Myopathy, Congenital 45 47
 
Congenital Fiber-Type Disproportion Myopathy 45 51
Congenital Fiber Type Disproportion 45 47
Myopathy, Congenital with Fiber-Type Disproportion 45
Cftd 23

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0080102
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 condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), 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). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals 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 use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), 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 minicore myopathy with external ophthalmoplegia, 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 Smooth Muscle Contraction. Affiliated tissues include heart, skeletal muscle and eye, and related mouse phenotypes are liver/biliary system 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 NBK1259

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion31.8ACTA1, HACD1, MYH7, RYR1, SEPN1, TPM3
2minicore myopathy with external ophthalmoplegia30.9MYH7, RYR1, SEPN1
3acta1-related congenital fiber-type disproportion12.4
4myh7-related congenital fiber-type disproportion12.3
5ryr1-related congenital fiber-type disproportion12.3
6sepn1-related congenital fiber-type disproportion12.3
7tpm2-related congenital fiber-type disproportion12.3
8tpm3-related congenital fiber-type disproportion12.3
9nemaline myopathy 1, autosomal dominant or recessive10.7ACTA1, TPM3
10intermediate severe salla disease10.7ACTA1, TPM3
11x-linked cleft palate and ankyloglossia10.7MYH7, SEPN1
12myopathy10.7
13tyrosine-oxidase temporary deficiency10.6ACTA1, TPM2
14multiple epiphyseal dysplasia, autosomal dominant10.6RYR1, SEPN1
15muscular dystrophy, rigid spine, 110.6ACTA1, SEPN1
16childhood-onset schizophrenia10.5ACTA1, TPM2, TPM3
17chronic wasting disease10.5RYR1, SEPN1
18myasthenia gravis10.5RYR1, TPM3
19carbon baby syndrome10.5ACTA1, TPM2, TPM3
20robinow syndrome10.4ACTA1, MYH7, SEPN1
21bone angioendothelial sarcoma10.4TPM2, TPM3
22neurilemmoma10.4ACTA1, TPM2, TPM3
23myh7-related familial hypertrophic cardiomyopathy10.4MYH7, TPM1
24scn5a-related brugada syndrome10.4MYH7, TPM1
25scn5a-related familial atrial fibrillation10.3MYH7, TPM1
26cataract 16, multiple types10.3ACTA1, MYH7
27congenital myopathy10.3
28muscular dystrophy, congenital10.2ITGA7, LMNA, SEPN1
29cardiomyopathy, dilated, 1e10.2MYH7, TPM1
30hereditary renal cell carcinoma10.2TPM2, TPM3
31qazi markouizos syndrome10.2
32lowe syndrome10.1
33ptosis10.1
34leukodystrophy10.1
35respiratory failure10.1
36clubfoot10.1
37melanoma10.1
38ophthalmoplegia10.1
39myotonic dystrophy10.1
40myosin storage myopathy10.1
41cardiomyopathy10.1
42ductal carcinoma in situ10.0TPM2, TPM3
43tenosynovial giant cell tumor10.0INSR, LMNA
44extrinsic cardiomyopathy9.9MYH7, MYL2, TPM1
45congenital fiber-type disproportion9.9ACTA1, ITGA7, MYH7, RYR1, SEPN1
46specific developmental disorder9.7LMNA, MYH7, MYL2, TPM1
47drug-induced hepatitis9.7LMNA, MYH7, MYL2, TPM1
48conjunctival concretion9.7LMNA, MYH7, MYL2, TPM1
49hypertensive heart disease9.7TNNI2, TNNT3
50strongyloidiasis9.6TNNI2, TNNT3

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

Anatomical Context for Congenital Fiber-Type Disproportion

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

33
Heart, Skeletal muscle, Eye, Liver, T cells, Skin, Prostate

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:00053708.4ACTA1, GALC, INSR, LMNA, MYL2, TNNT3
2MP:00053908.0ACTA1, GALC, ITGA7, LMNA, RYR1, SEPN1
3MP:00053857.4GALC, INSR, ITGA7, LMNA, MYH7, MYL2
4MP:00053787.3ACTA1, GALC, INSR, ITGA7, LMNA, MYL2
5MP:00053696.7ACTA1, GALC, INSR, ITGA7, LMNA, MYH7

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
id Gene Variation Type Significance SNP ID Assembly Location
1TPM3NM_152263.3(TPM3): c.503G> A (p.Arg168His)single nucleotide variantPathogenicrs121964852GRCh37Chr 1, 154145447: 154145447

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 pathwaysScoreTop Affiliating Genes
19.8MYH7, MYL2
29.5TPM1, TPM2, TPM3
3
Show member pathways
9.3ACTA1, ITGA7, MYH7, MYL2
4
Show member pathways
9.2ACTA1, ITGA7, LMNA, RYR1
58.8MYH7, MYL2, TPM1, TPM2, TPM3
6
Show member pathways
8.8ACTA1, INSR, ITGA7, MYH7, MYL2
7
Show member pathways
8.3INSR, MYH7, MYL2, TPM1, TPM2, TPM3
8
Show member pathways
8.1ITGA7, LMNA, MYH7, MYL2, TPM1, TPM2
97.5ACTA1, MYL2, TNNI2, TNNT3, TPM1, TPM2
10
Show member pathways
7.4MYL2, RYR1, TNNI2, TNNT3, TPM1, TPM2

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
1stress fiberGO:000172510.6ACTA1, TPM3
2cytosolGO:00058298.1ACTA1, INSR, LMNA, MYL2, RYR1, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:004874110.1RYR1, SEPN1
2regulation of striated muscle contractionGO:000694210.0MYL2, TNNT3
3muscle contractionGO:00069369.1ACTA1, RYR1, TPM1
4cardiac muscle contractionGO:00600488.8MYL2, TNNI2, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037798.0TNNI2, TNNT3, TPM1, 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