MCID: CNG046
MIFTS: 49

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:
11Disease Ontology, 22GeneReviews, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 46NIH Rare Diseases, 52Orphanet, 48Novoseek, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 11 22 23 24 13
Cftdm 22 46 23 24 52
Congenital Myopathy with Fiber-Type Disproportion 22 23
Congenital Myopathy with Fiber Type Disproportion 24 25
Fiber-Type Disproportion Myopathy, Congenital 46 48
 
Congenital Fiber-Type Disproportion Myopathy 46 52
Congenital Fiber Type Disproportion 46 48
Myopathy, Congenital with Fiber-Type Disproportion 46
Cftd 24

Characteristics:

Orphanet epidemiological data:

52
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0080102
Orphanet52 ORPHA2020
ICD10 via Orphanet29 G71.2
UMLS via Orphanet67 C0546264

Summaries for Congenital Fiber-Type Disproportion

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Genetics Home Reference:24 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 acta1-related congenital fiber-type disproportion, and has symptoms including Array, Array and Array. 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 skeleton and cardiovascular system.

NIH Rare Diseases:46 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:69 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion31.3ACTA1, HACD1, MYH7, RYR1, SEPN1, TPM3
2acta1-related congenital fiber-type disproportion12.4
3myh7-related congenital fiber-type disproportion12.3
4ryr1-related congenital fiber-type disproportion12.3
5sepn1-related congenital fiber-type disproportion12.3
6tpm2-related congenital fiber-type disproportion12.3
7tpm3-related congenital fiber-type disproportion12.3
8megalocytic interstitial nephritis10.7ACTA1, TPM3
9nemaline myopathy 1, autosomal dominant or recessive10.7ACTA1, TPM3
10myopathy10.6
11undifferentiated connective tissue disease10.6ACTA1, TPM2
12multiple epiphyseal dysplasia, recessive10.6RYR1, SEPN1
13myelodysplastic myeloproliferative cancer10.5RYR1, TPM3
14adrenal gland hyperfunction10.5DYSF, SEPN1
15dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.5ACTA1, TPM2, TPM3
16glomerulosclerosis, focal segmental, 510.5EMD, MYH7
17systemic capillary leak syndrome10.5ACTA1, TPM2, TPM3
18linear scleroderma10.5EMD, LMNA
19dowling-degos disease10.4ACTA1, MYH7, SEPN1
20unverricht-lundborg syndrome10.4MYH7, RYR1, SEPN1
21cellular schwannoma10.4ACTA1, TPM2, TPM3
22emery-dreifuss muscular dystrophy 2, ad10.4EMD, LMNA
23cerebellar agenesis10.4DMD, DYSF
24myopathy, lactic acidosis, and sideroblastic anemia10.4DMD, SEPN1
25arthrogryposis, distal, type 2b10.3TNNI2, TPM2
26stormorken syndrome10.3ACTA1, EMD, RYR1
27congenital myopathy10.3
28nemaline myopathy 4, autosomal dominant10.3TNNI2, TPM2
29snowflake vitreoretinal degeneration10.3RYR1, TPM2
30pelger-huet anomaly10.3EMD, LMNA
31cataract 16, multiple types10.3ACTA1, DMD, MYH7
32schindler disease10.3DMD, DYSF
33atrial standstill, digenic10.2EMD, LMNA, MYH7
34pachyonychia congenita10.2EMD, LMNA
35minicore myopathy with external ophthalmoplegia10.2
36qazi markouizos syndrome10.2
37cubitus valgus with mental retardation and unusual facies10.2DMD, EMD
38odontoclasia10.2EMD, LMNA, SEPN1
39cornelia de lange syndrome10.1DMD, DYSF, MYH7
40segawa syndrome, recessive10.1DMD, DYSF
41lowe syndrome10.1
42ptosis10.1
43leukodystrophy10.1
44respiratory failure10.1
45clubfoot10.1
46melanoma10.1
47myotonic dystrophy10.1
48myosin storage myopathy10.1
49cardiomyopathy10.1
50muscular dystrophy-dystroglycanopathy , type b, 410.0DMD, ITGA7

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:

 52
  • pectus excavatum
  • muscular hypotonia
  • reduced tendon reflexes
  • recurrent respiratory infections
  • scoliosis
  • myopathy

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 Myopathy with Fiber Type Disproportion25
2 Congenital Fiber-Type Disproportion23 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.4ACTA1, DMD, GALC, ITGA7, LMNA, RYR1
2MP:00053856.7DMD, EMD, GALC, ITGA7, LMNA, MYH7
3MP:00053866.2ACTA1, DMD, DYSF, EMD, GALC, ITGA7
4MP:00053695.8ACTA1, DMD, DYSF, EMD, GALC, ITGA7

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
Congenital fiber-type disproportion. (22172422)
2011
6
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
7
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
8
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)
2010
9
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)
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
Congenital fiber type disproportion: severe form with marked improvement. (10513694)
1999
24
Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)
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
2TPM3NM_152263.3(TPM3): c.502C> G (p.Arg168Gly)single nucleotide variantLikely pathogenic, Pathogenicrs121964854GRCh37Chr 1, 154145448: 154145448

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 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8MYH7, MYL2
29.6ACTA1, DMD
39.6DYSF, TPM2, TPM3
4
Show member pathways
9.6ACTA1, MYH7, MYL2
5
Show member pathways
9.5EMD, LMNA
6
Show member pathways
9.3MYH7, MYL2, TPM2, TPM3
79.3MYH7, MYL2, TPM2, TPM3
8
Show member pathways
9.3ACTA1, ITGA7, MYH7, MYL2
9
Show member pathways
8.5ACTA1, DMD, ITGA7, LMNA, RYR1
108.3ACTA1, DMD, MYL2, TNNI2, TPM2, TPM3
11
Show member pathways
7.8DMD, DYSF, MYL2, RYR1, TNNI2, TPM2
12
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
2sarcomereGO:00300179.7ACTA1, MYH7, MYL2
3stress fiberGO:00017259.3ACTA1, MYH7, TPM3
4myofibrilGO:00300169.2DMD, MYH7, MYL2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cellular response to caffeineGO:007131310.3RYR1, SEPN1
2ventricular cardiac muscle tissue morphogenesisGO:005501010.2MYH7, MYL2
3regulation of the force of heart contractionGO:000202610.1MYH7, MYL2
4mitotic nuclear envelope reassemblyGO:000708410.0EMD, LMNA
5skeletal muscle contractionGO:000300910.0MYH7, TNNI2
6skeletal muscle fiber developmentGO:00487419.8ACTA1, RYR1, SEPN1
7muscle fiber developmentGO:00487479.7DMD, MYL2
8regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.5DMD, SEPN1
9regulation of heart rateGO:00020279.5DMD, MYH7
10muscle organ developmentGO:00075179.2DMD, EMD, ITGA7
11cardiac muscle contractionGO:00600488.7DMD, MYH7, MYL2, TNNI2
12muscle filament slidingGO:00300498.1ACTA1, DMD, MYH7, MYL2, TNNI2, TPM2
13muscle contractionGO:00069367.9ACTA1, DYSF, EMD, MYH7, RYR1, TPM2

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.7ACTA1, DMD
2structural constituent of muscleGO:00083079.2DMD, MYL2, TPM2
3actin bindingGO:00037798.0DMD, EMD, MYH7, TNNI2, TPM2, TPM3

Sources for Congenital Fiber-Type Disproportion

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet