CFTD
MCID: CNG046
MIFTS: 61

Congenital Fiber-Type Disproportion (CFTD) malady

Neuronal diseases category

Summaries for Congenital Fiber-Type Disproportion

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to myopathy and respiratory failure, and has symptoms including areflexia/hyporeflexia, abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (tropomyosin 3), and among its related pathways are RhoA signaling pathway and DREAM Repression and Dynorphin Expression. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related mouse phenotypes are skeleton and muscle.

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

Description from OMIM:46 255310,300580

GeneReviews summary for cftd

Aliases & Classifications for Congenital Fiber-Type Disproportion

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19GeneReviews, 21Genetics Home Reference, 42NIH Rare Diseases, 48Orphanet, 20GeneTests, 44Novoseek, 60UMLS, 22GTR, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

congenital fiber-type disproportion 19 21
congenital fiber type disproportion 42 20 44 60
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
myopathy congenital, with fiber-type disproportion 46
congenital myopathy with fiber type disproportion 21
congenital myopathy with fiber-type disproportion 19
cftd 21


External Ids:

ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet57 240084007

Related Diseases for Congenital Fiber-Type Disproportion

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Sources:
17GeneCards, 18GeneDecks
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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 36)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.2ITGA7, MYH7, RYR1, ACTA1, SEPN1, TPM2
2respiratory failure30.3RYR1, ACTA1
3centronuclear myopathy30.3RYR1, PTPLA
4myotonic dystrophy30.3MYH7, INSR, RYR1
5myopathy, congenital, with fiber-type disproportion 110.5
6myopathy, congenital, with fiber-type disproportion, x-linked10.5
7tpm3-related congenital fiber-type disproportion10.5
8ryr1-related congenital fiber-type disproportion10.5
9acta1-related congenital fiber-type disproportion10.4
10sepn1-related congenital fiber-type disproportion10.4
11myh7-related congenital fiber-type disproportion10.4
12tpm2-related congenital fiber-type disproportion10.4
13clubfoot10.3
14qazi markouizos syndrome10.3
15leukodystrophy10.3
16melanoma10.3
17ophthalmoplegia10.3
181p36 deletion syndrome10.3
19motor neuron disease10.0RYR1
20muscular dystrophy10.0ITGA7
21multiminicore disease10.0RYR1, SEPN1
22central core myopathy10.0SEPN1, RYR1
23dilated cardiomyopathy10.0RYR1, MYH7
24distal arthrogryposis10.0TPM2, TPM3
25neuropathy10.0SEPN1, RYR1
26sudden cardiac death multi-gene panels10.0RYR1, MYH7
27nemaline myopathy10.0TPM3, TPM2, ACTA1
28malignant hyperthermia10.0SEPN1, RYR1
29arrhythmogenic right ventricular dysplasia10.0RYR1, PTPLA
30neuromuscular disease10.0ACTA1, RYR1
31familial hypertrophic cardiomyopathy10.0MYL2, MYH7
32congenital heart defect10.0MYH7, INSR, RYR1
33hypertrophic cardiomyopathy10.0TPM3, MYH7, MYL2
34noonan syndrome10.0RYR1, MYH7, MYL2
35hypertrophy of breast10.0ACTA1, MYH7, MYL2
36myopathy congenital10.0ITGA7, MYH7, RYR1, ACTA1, SEPN1

Graphical network of the top 20 diseases related to Congenital Fiber-Type Disproportion:



Diseases related to congenital fiber-type disproportion

Clinical Features for Congenital Fiber-Type Disproportion

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

255310,300580

Clinical synopsis from OMIM:

255310

Symptoms:

48 (show all 8)
  • areflexia/hyporeflexia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • myopathy
  • repeat respiratory infections
  • hypotonia
  • scoliosis
  • autosomal recessive inheritance
  • pectus excavatum

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Fiber-Type Disproportion

Drug clinical trials:

Search ClinicalTrials for Congenital Fiber-Type Disproportion

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Search CenterWatch for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Congenital Fiber-Type Disproportion:

32
Skeletal muscle, Heart, Eye

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.2SEPN1, ACTA1, RYR1, ITGA7, GALC
2MP:00053697.2SEPN1, GALC, ITGA7, MYL2, INSR, RYR1
3MP:00053787.0GALC, ITGA7, MYL2, INSR, RYR1, ACTA1

Publications for Congenital Fiber-Type Disproportion

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50PubMed
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Articles related to Congenital Fiber-Type Disproportion:

(show all 43)
idTitleAuthorsYear
1
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)
2013
2
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. (21864970)
2012
3
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
4
Congenital fiber-type disproportion. (22172422)
2011
5
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)
2010
6
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)
2010
7
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
8
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
9
Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)
2008
10
Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations. (18658083)
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
Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. (7706500)
1995
29
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. (7908614)
1994
30
Congenital Fiber-Type Disproportion (20301436)
1993
31
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)
1992
32
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)
1992
33
Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation. (2009826)
1991
34
Congenital fiber type disproportion: report of one case. (2284944)
1990
35
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)
1990
36
Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)
1989
37
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)
1988
38
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)
1988
39
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)
1985
40
Congenital fiber type disproportion with fatal outcome: a case report. (7341555)
1981
41
Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)
1981
42
Clinical variability in congenital fiber type disproportion. (7381515)
1980
43
Congenital fiber type disproportion in identical twins. (569460)
1977

Genetic Variations for Congenital Fiber-Type Disproportion

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Fiber-Type Disproportion:

62 (show all 24)
id Symbol AA change Variation ID SNP ID
1ACTA1p.Leu223ProVAR_032917
2ACTA1p.Leu223ProVAR_032917
3ACTA1p.Asp294ValVAR_032918
4ACTA1p.Asp294ValVAR_032918
5ACTA1p.Pro334SerVAR_032919
6ACTA1p.Pro334SerVAR_032919
7RYR1p.Met402ThrVAR_063846
8RYR1p.Met402ThrVAR_063846
9RYR1p.His2035LeuVAR_063847
10RYR1p.His2035LeuVAR_063847
11RYR1p.Asn3326LysVAR_063848
12RYR1p.Asn3326LysVAR_063848
13RYR1p.Cys3402GlyVAR_063849
14RYR1p.Cys3402GlyVAR_063849
15TPM3p.Leu100MetVAR_070066
16TPM3p.Leu100MetVAR_070066
17TPM3p.Arg168CysVAR_070067
18TPM3p.Arg168CysVAR_070067
19TPM3p.Arg168GlyVAR_070068
20TPM3p.Arg168GlyVAR_070068
21TPM3p.Lys169GluVAR_070070
22TPM3p.Lys169GluVAR_070070
23TPM3p.Arg245GlyVAR_070071
24TPM3p.Arg245GlyVAR_070071

Expression for genes affiliated with Congenital Fiber-Type Disproportion

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Fiber-Type Disproportion

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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37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 29KEGG, 12EMD Millipore
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Pathways related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ACTA1, MYL2
2
Hide members
9.7ACTA1, RYR1
39.5MYL2, MYH7
4
Hide members
9.3MYL2, RYR1, ACTA1
5
Hide members
9.2ACTA1, INSR, ITGA7
6
Hide members
9.2MYL2, ACTA1, TPM2, TPM3
7
Hide members
9.2ACTA1, MYH7, MYL2
8
Hide members
9.1ITGA7, INSR, RYR1
98.9TPM3, TPM2, MYH7, MYL2
10
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
8.8ITGA7, MYL2, MYH7, ACTA1
11
Hide members
8.8ACTA1, MYH7, MYL2, ITGA7
12
Hide members
8.8ACTA1, MYH7, MYL2, ITGA7
13
Hide members
8.5TPM3, TPM2, MYH7, MYL2, ITGA7
14
Hide members
8.2ITGA7, MYL2, MYH7, INSR, ACTA1
15
Hide members
8.2ITGA7, MYL2, MYH7, INSR, ACTA1

Compounds for genes affiliated with Congenital Fiber-Type Disproportion

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Sources:
59Tocris Bioscience, 44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin599.6MYL2, MYH7
2bts599.5MYL2, MYH7
3gsno449.5RYR1, INSR
4(s)-(-)-blebbistatin599.5MYL2, MYH7
5(+-)-blebbistatin599.4MYL2, MYH7
6ryanodine44 28 5911.3MYH7, RYR1, SEPN1
7isoproterenol44 1110.0MYH7, INSR, RYR1
8creatinine448.4ACTA1, RYR1, INSR, MYH7, ITGA7
9calcium44 49 11 2411.0MYL2, MYH7, RYR1, ACTA1, SEPN1, TPM2
10lipid447.5GALC, MYH7, INSR, RYR1, ACTA1

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

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16Gene Ontology
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Cellular components related to Congenital Fiber-Type Disproportion according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:0058629.8TPM2, TPM3
2myosin complexGO:0164599.5MYH7, MYL2
3stress fiberGO:0017259.3TPM3, ACTA1, MYH7
4sarcomereGO:0300179.2ACTA1, MYH7, MYL2
5actin cytoskeletonGO:0156299.2TPM3, ACTA1, MYL2

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

idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle tissue morphogenesisGO:0550109.5MYH7, MYL2
2skeletal muscle fiber developmentGO:0487419.4ACTA1, RYR1
3muscle filament slidingGO:0300498.6TPM3, TPM2, ACTA1, MYH7, MYL2
4muscle contractionGO:0069368.4MYH7, RYR1, ACTA1, TPM2, TPM3

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037799.3TPM3, TPM2, MYH7
2structural constituent of muscleGO:0083078.9TPM2, MYH7, MYL2

Products for genes affiliated with Congenital Fiber-Type Disproportion

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet