MCID: CNG046
MIFTS: 48

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, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 11 23 24 25 13
Cftdm 23 48 24 25 54
Congenital Myopathy with Fiber-Type Disproportion 23 24
Congenital Myopathy with Fiber Type Disproportion 25 27
Fiber-Type Disproportion Myopathy, Congenital 48 50
 
Congenital Fiber-Type Disproportion Myopathy 48 54
Congenital Fiber Type Disproportion 48 50
Myopathy, Congenital with Fiber-Type Disproportion 48
Cftd 25

Characteristics:

Orphanet epidemiological data:

54
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0080102
Orphanet54 ORPHA2020
ICD10 via Orphanet31 G71.2
UMLS via Orphanet69 C0546264

Summaries for Congenital Fiber-Type Disproportion

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Genetics Home Reference:25 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 ACTA1 (Actin, Alpha 1, Skeletal Muscle), 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 liver/biliary system and behavior/neurological.

NIH Rare Diseases:48 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:71 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews 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 Selenon-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 59)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion31.7ACTA1, HACD1, INSR, MYH7, RYR1, TPM3
2acta1-related congenital fiber-type disproportion12.3
3myh7-related congenital fiber-type disproportion12.2
4ryr1-related congenital fiber-type disproportion12.2
5selenon-related congenital fiber-type disproportion12.2
6tpm2-related congenital fiber-type disproportion12.2
7tpm3-related congenital fiber-type disproportion12.2
8minicore myopathy with external ophthalmoplegia11.1
9qazi markouizos syndrome11.1
10megalocytic interstitial nephritis10.6ACTA1, TPM3
11nemaline myopathy 1, autosomal dominant or recessive10.6ACTA1, TPM3
12myopathy10.5
13undifferentiated connective tissue disease10.5ACTA1, TPM2
14cerebellar agenesis10.5DMD, DYSF
15glomerulosclerosis, focal segmental, 510.5EMD, MYH7
16dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.4ACTA1, TPM2, TPM3
17systemic capillary leak syndrome10.4ACTA1, TPM2, TPM3
18linear scleroderma10.4EMD, LMNA
19unverricht-lundborg syndrome10.4MYH7, RYR1
20stormorken syndrome10.4ACTA1, EMD, RYR1
21emery-dreifuss muscular dystrophy 2, ad10.4EMD, LMNA
22muscular dystrophy, rigid spine, 110.4ACTA1, DMD, MYH7
23cataract 16, multiple types10.3ACTA1, DMD, MYH7
24cellular schwannoma10.3ACTA1, TPM2, TPM3
25myelodysplastic myeloproliferative cancer10.3RYR1, TPM3
26epilepsy, generalized, with febrile seizures plus, type 110.3DMD, MYH7, RYR1
27schindler disease10.3DMD, DYSF
28atrial standstill, digenic10.3EMD, LMNA, MYH7
29endometrial stromal sarcoma10.2ACTA1, RYR1, TPM2, TPM3
30cubitus valgus with mental retardation and unusual facies10.2DMD, EMD
31segawa syndrome, recessive10.2DMD, DYSF
32congenital myopathy10.2
33bethlem myopathy 110.2DMD, DYSF, LMNA
34classic variant of chromophobe renal cell carcinoma10.1DMD, DYSF, EMD, RYR1
35muscular dystrophy, congenital10.1DMD, ITGA7, LMNA
36adams-oliver syndrome 210.1DMD, HACD1, RYR1
37muscular dystrophy-dystroglycanopathy , type b, 410.0DMD, ITGA7
38lowe syndrome9.9
39ptosis9.9
40leukodystrophy9.9
41respiratory failure9.9
42clubfoot9.9
43myotonic dystrophy9.9
44myosin storage myopathy9.9
45cardiomyopathy9.9
46chicken egg allergy9.9LMNA, MYH7, MYL2
47median arcuate ligament syndrome9.9DMD, DYSF, EMD, LMNA
48pelger-huet anomaly9.9EMD, LMNA
49cylindrical spirals myopathy9.9ACTA1, ITGA7, RYR1, TPM2, TPM3
50autoimmune disease of skin and connective tissue9.8DMD, LMNA, MYH7, MYL2

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



Diseases related to congenital fiber-type disproportion

Symptoms & Phenotypes for Congenital Fiber-Type Disproportion

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Human phenotypes related to Congenital Fiber-Type Disproportion:

 54 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum54 Frequent (79-30%)
2 muscular hypotonia54 Very frequent (99-80%)
3 reduced tendon reflexes54 Very frequent (99-80%)
4 recurrent respiratory infections54 Frequent (79-30%)
5 scoliosis54 Frequent (79-30%)
6 myopathy54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2ACTA1, DMD, GALC, INSR, LMNA, MYL2
2MP:00053867.8ACTA1, DMD, DYSF, EMD, GALC, INSR
3MP:00053857.3DMD, EMD, GALC, INSR, ITGA7, LMNA
4MP:00107686.6ACTA1, DMD, GALC, INSR, ITGA7, LMNA
5MP:00053695.7ACTA1, DMD, DYSF, EMD, GALC, INSR

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 Disproportion27
2 Congenital Fiber-Type Disproportion24 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

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

36
Skeletal muscle, Heart, Eye

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 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1TPM3NM_152263.3(TPM3): c.503G> A (p.Arg168His)SNVPathogenicrs121964852GRCh37Chr 1, 154145447: 154145447
2TPM3NM_152263.3(TPM3): c.298C> A (p.Leu100Met)SNVPathogenicrs121964853GRCh37Chr 1, 154148670: 154148670
3TPM3NM_152263.3(TPM3): c.502C> G (p.Arg168Gly)SNVLikely pathogenic, Pathogenicrs121964854GRCh37Chr 1, 154145448: 154145448
4TPM3NM_152263.3(TPM3): c.502C> T (p.Arg168Cys)SNVPathogenicrs121964854GRCh37Chr 1, 154145448: 154145448
5ACTA1NM_001100.3(ACTA1): c.881A> T (p.Asp294Val)SNVPathogenicrs121909529GRCh37Chr 1, 229567577: 229567577
6ACTA1NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro)SNVPathogenicrs121909530GRCh37Chr 1, 229567881: 229567881
7ACTA1NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser)SNVPathogenicrs121909531GRCh37Chr 1, 229567380: 229567380
8SELENONNM_020451.2(SELENON): c.872+2T> CSNVPathogenicrs794727808GRCh37Chr 1, 26135643: 26135643
9MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionPathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
10MYH7NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)SNVPathogenicrs367543053GRCh37Chr 14, 23882064: 23882064
11RYR1NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly)SNVLikely pathogenic, Pathogenicrs367543058GRCh37Chr 19, 39010039: 39010039
12RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)SNVPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
13RYR1NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)SNVPathogenicrs143849895GRCh37Chr 19, 39057593: 39057593
14RYR1NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)SNVPathogenicrs367543055GRCh37Chr 19, 38976628: 38976628
15RYR1NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)SNVPathogenicrs367543056GRCh37Chr 19, 38981349: 38981349
16RYR1NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)SNVPathogenicrs367543054GRCh37Chr 19, 38937346: 38937346
17RYR1NM_000540.2(RYR1): c.9000+1G> TSNVPathogenicrs111364670GRCh37Chr 19, 39001206: 39001206
18RYR1NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)SNVPathogenicrs367543057GRCh37Chr 19, 39008291: 39008291
19ACTA1NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)SNVPathogenicrs367543049GRCh37Chr 1, 229568614: 229568614
20ACTA1NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)SNVPathogenicrs367543048GRCh37Chr 1, 229568847: 229568847
21ACTA1NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)SNVPathogenicrs367543050GRCh37Chr 1, 229567928: 229567928
22ACTA1NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)SNVPathogenicrs367543051GRCh37Chr 1, 229567822: 229567822
23TPM3NM_152263.3(TPM3): c.11C> T (p.Ala4Val)SNVPathogenicrs199474711GRCh37Chr 1, 154164484: 154164484
24TPM3NM_152263.3(TPM3): c.272G> C (p.Arg91Pro)SNVPathogenicrs199474713GRCh37Chr 1, 154148696: 154148696
25TPM3NM_152263.3(TPM3): c.505A> G (p.Lys169Glu)SNVPathogenicrs199474715GRCh37Chr 1, 154145445: 154145445
26TPM3NM_152263.3(TPM3): c.721G> A (p.Glu241Lys)SNVPathogenicrs199474717GRCh37Chr 1, 154142930: 154142930
27TPM3NM_152263.3(TPM3): c.733A> G (p.Arg245Gly)SNVPathogenicrs199474718GRCh37Chr 1, 154142918: 154142918
28SELENONNM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs)duplicationPathogenicrs368104077GRCh38Chr 1, 25808755: 25808755
29SELENONNM_020451.2(SELENON): c.943G> A (p.Gly315Ser)SNVPathogenicrs121908188GRCh37Chr 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 11)
idSuper pathwaysScoreTop Affiliating Genes
19.9MYH7, MYL2
29.9ACTA1, DMD
3
Show member pathways
9.7ACTA1, MYH7, MYL2
49.6DYSF, TPM2, TPM3
5
Show member pathways
9.4ACTA1, ITGA7, MYH7, MYL2
69.4MYH7, MYL2, TPM2, TPM3
7
Show member pathways
8.9ACTA1, DMD, ITGA7, LMNA, RYR1
8
Show member pathways
8.8ACTA1, INSR, ITGA7, MYH7, MYL2
9
Show member pathways
8.8INSR, MYH7, MYL2, TPM2, TPM3
107.7ACTA1, DMD, MYL2, TNNI2, TNNT3, TPM2
11
Show member pathways
7.3DMD, DYSF, MYL2, RYR1, TNNI2, TNNT3

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:000586210.5TPM2, TPM3
2sarcomereGO:003001710.2ACTA1, MYH7, MYL2
3myofibrilGO:003001610.0DMD, MYH7, MYL2
4stress fiberGO:000172510.0ACTA1, MYH7, TPM3
5troponin complexGO:00058619.1TNNI2, TNNT3

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of the force of heart contractionGO:000202610.4MYH7, MYL2
2skeletal muscle fiber developmentGO:004874110.4ACTA1, RYR1
3muscle fiber developmentGO:004874710.4DMD, MYL2
4mitotic nuclear envelope reassemblyGO:000708410.3EMD, LMNA
5regulation of ATPase activityGO:004346210.2TNNT3, TPM2
6regulation of striated muscle contractionGO:000694210.2MYL2, TNNT3
7muscle organ developmentGO:00075179.9DMD, EMD, ITGA7
8ventricular cardiac muscle tissue morphogenesisGO:00550109.9MYH7, MYL2
9skeletal muscle contractionGO:00030099.3MYH7, TNNI2, TNNT3
10cardiac muscle contractionGO:00600489.3DMD, MYH7, MYL2, TNNI2
11muscle contractionGO:00069369.2ACTA1, DYSF, EMD, MYH7, RYR1, TPM2
12muscle filament slidingGO:00300498.0ACTA1, DMD, MYH7, MYL2, TNNI2, TNNT3

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.3ACTA1, DMD
2structural constituent of muscleGO:00083079.5DMD, MYL2, TPM2
3actin bindingGO:00037798.1DMD, EMD, MYH7, TNNI2, TNNT3, TPM2

Sources for Congenital Fiber-Type Disproportion

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet