Congenital Fiber-Type Disproportion disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Congenital Fiber-Type Disproportion

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:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁴

Rare neurological diseases

External Ids:

Disease Ontology¹¹ DOID:0080102

Orphanet⁵⁴ ORPHA2020

ICD10 via Orphanet³¹ G71.2

UMLS via Orphanet⁶⁹ C0546264

Summaries for Congenital Fiber-Type Disproportion

Sources:
²³GeneReviews, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁷¹Wikipedia
See all MalaCards sources

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	myopathy, congenital, with fiber-type disproportion	31.7	ACTA1, HACD1, INSR, MYH7, RYR1, TPM3
2	acta1-related congenital fiber-type disproportion	12.3
3	myh7-related congenital fiber-type disproportion	12.2
4	ryr1-related congenital fiber-type disproportion	12.2
5	selenon-related congenital fiber-type disproportion	12.2
6	tpm2-related congenital fiber-type disproportion	12.2
7	tpm3-related congenital fiber-type disproportion	12.2
8	minicore myopathy with external ophthalmoplegia	11.1
9	qazi markouizos syndrome	11.1
10	megalocytic interstitial nephritis	10.6	ACTA1, TPM3
11	nemaline myopathy 1, autosomal dominant or recessive	10.6	ACTA1, TPM3
12	myopathy	10.5
13	undifferentiated connective tissue disease	10.5	ACTA1, TPM2
14	cerebellar agenesis	10.5	DMD, DYSF
15	glomerulosclerosis, focal segmental, 5	10.5	EMD, MYH7
16	dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis	10.4	ACTA1, TPM2, TPM3
17	systemic capillary leak syndrome	10.4	ACTA1, TPM2, TPM3
18	linear scleroderma	10.4	EMD, LMNA
19	unverricht-lundborg syndrome	10.4	MYH7, RYR1
20	stormorken syndrome	10.4	ACTA1, EMD, RYR1
21	emery-dreifuss muscular dystrophy 2, ad	10.4	EMD, LMNA
22	muscular dystrophy, rigid spine, 1	10.4	ACTA1, DMD, MYH7
23	cataract 16, multiple types	10.3	ACTA1, DMD, MYH7
24	cellular schwannoma	10.3	ACTA1, TPM2, TPM3
25	myelodysplastic myeloproliferative cancer	10.3	RYR1, TPM3
26	epilepsy, generalized, with febrile seizures plus, type 1	10.3	DMD, MYH7, RYR1
27	schindler disease	10.3	DMD, DYSF
28	atrial standstill, digenic	10.3	EMD, LMNA, MYH7
29	endometrial stromal sarcoma	10.2	ACTA1, RYR1, TPM2, TPM3
30	cubitus valgus with mental retardation and unusual facies	10.2	DMD, EMD
31	segawa syndrome, recessive	10.2	DMD, DYSF
32	congenital myopathy	10.2
33	bethlem myopathy 1	10.2	DMD, DYSF, LMNA
34	classic variant of chromophobe renal cell carcinoma	10.1	DMD, DYSF, EMD, RYR1
35	muscular dystrophy, congenital	10.1	DMD, ITGA7, LMNA
36	adams-oliver syndrome 2	10.1	DMD, HACD1, RYR1
37	muscular dystrophy-dystroglycanopathy , type b, 4	10.0	DMD, ITGA7
38	lowe syndrome	9.9
39	ptosis	9.9
40	leukodystrophy	9.9
41	respiratory failure	9.9
42	clubfoot	9.9
43	myotonic dystrophy	9.9
44	myosin storage myopathy	9.9
45	cardiomyopathy	9.9
46	chicken egg allergy	9.9	LMNA, MYH7, MYL2
47	median arcuate ligament syndrome	9.9	DMD, DYSF, EMD, LMNA
48	pelger-huet anomaly	9.9	EMD, LMNA
49	cylindrical spirals myopathy	9.9	ACTA1, ITGA7, RYR1, TPM2, TPM3
50	autoimmune disease of skin and connective tissue	9.8	DMD, LMNA, MYH7, MYL2

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

Symptoms & Phenotypes for Congenital Fiber-Type Disproportion

Sources:
⁴¹MGI, ⁵⁴Orphanet
See all MalaCards sources

Human phenotypes related to Congenital Fiber-Type Disproportion:

⁵⁴ (show all 6)

id	Description	Orphanet Frequency
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

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	8.2	ACTA1, DMD, GALC, INSR, LMNA, MYL2
2	behavior/neurological	MP:0005386	7.8	ACTA1, DMD, DYSF, EMD, GALC, INSR
3	cardiovascular system	MP:0005385	7.3	DMD, EMD, GALC, INSR, ITGA7, LMNA
4	mortality/aging	MP:0010768	6.6	ACTA1, DMD, GALC, INSR, ITGA7, LMNA
5	muscle	MP:0005369	5.7	ACTA1, DMD, DYSF, EMD, GALC, INSR

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Molecular and Genetic Studies of Congenital Myopathies	Recruiting	NCT00272883
2	Congenital Muscle Disease Study of Patient and Family Reported Medical Information	Recruiting	NCT01403402

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

Sources:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Congenital Fiber-Type Disproportion:

³⁶

Skeletal muscle, Heart, Eye

Publications for Congenital Fiber-Type Disproportion

Sources:
⁵⁷PubMed
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Articles related to Congenital Fiber-Type Disproportion:

(show all 41)

id	Title	Authors	Year
1	Congenital fiber type disproportion. (26526626)	Kissiedu J.... Prayson R.A.	2015
2	Congenital fiber type disproportion myopathy caused by LMNA mutations. (24642510)	Kajino S.... Hayashi Y.K.	2014
3	A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)	Kimura S.... Yoshioka K.	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)	Lehman H.... Casap N.	2012
5	Congenital fiber-type disproportion. (22172422)	Clarke N.F.	2011
6	A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)	Ortolano S.... Sobrido M.J.	2011
7	Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)	Tominaga K.... Nishino I.	2010
8	Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)	Clarke N.F.... North K.N.	2010
9	Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (19953533)	Lawlor M.W.... Beggs A.H.	2010
10	Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)	Watanabe H.... Machida J.	2009
11	Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)	Clarke N.F.... North K.N.	2008
12	The pathogenesis of ACTA1-related congenital fiber type disproportion. (17387733)	Clarke N.F.... North K.	2007
13	Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. (16941741)	Na S.J.... Choi Y.C.	2006
14	SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (16365872)	Clarke N.F.... North K.N.	2006
15	An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. (15960177)	Fujita K.... Kusaka H.	2005
16	A novel X-linked form of congenital fiber-type disproportion. (16173074)	Clarke N.F.... North K.N.	2005
17	Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. (15696781)	Rao T.V.... Inuwa I.M.	2005
18	Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)	Sharma M.C.... Sarkar C.	2004
19	Congenital fiber type disproportion--30 years on. (14575234)	Clarke N.F.... North K.N.	2003
20	A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)	Okamoto N.... Matsumoto N.	2002
21	Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. (10828713)	Bigner D.R.... Yankowitz J.	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)	Vorwerk P.... De Meyts P.	1999
23	Congenital fiber type disproportion: severe form with marked improvement. (10513694)	Tsuji M.... Hattori H.	1999
24	Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)	Banwell B.L.... Vajsar J.	1999
25	A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. (9343958)	Seigler R.S.... Rogers C.	1997
26	Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. (9484111)	Baccetti T.... Donati M.A.	1997
27	Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)	MarjanoviA8 B.... DjuriA8 M.	1996
28	Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. (8745394)	Nakagawa E.... Nonaka I.	1996
29	Congenital Fiber-Type Disproportion (20301436)	Pagon R.A.... Stephens K.	1993
30	Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)	Marolda M.	1992
31	Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)	Torres C.F.... Moxley R.T.	1992
32	Congenital fiber type disproportion: report of one case. (2284944)	Chang J.F.... Chiang C.H.	1990
33	A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)	Mizuno Y.... Komiya K.	1990
34	Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)	Kohyama J.... Nonaka I.	1989
35	Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)	Haltia M.... Rehunen S.	1988
36	Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)	Jaffe M.... Borochowitz Z.	1988
37	Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)	Santoro L.... Barbieri F.	1985
38	Congenital fiber type disproportion with fatal outcome: a case report. (7341555)	Carboni P.... Sideri G.	1981
39	Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)	Owen J.S.... Benton J.W.	1981
40	Clinical variability in congenital fiber type disproportion. (7381515)	Clancy R.R.... Oehlert J.W.	1980
41	Congenital fiber type disproportion in identical twins. (569460)	Curless R.G.... Nelson M.B.	1977

Genes related to Congenital Fiber-Type Disproportion

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵⁰Novoseek, ⁵⁴Orphanet
See all MalaCards sources

Genes related to Congenital Fiber-Type Disproportion (9 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	ACTA1	Actin, Alpha 1, Skeletal Muscle	787.75	Pathogenic ⁵ Causative germline mutation ⁵⁴ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Publications (show sections)	15468086, 17387733
2	SELENON	Selenoprotein N	776.53	Pathogenic ⁵ Causative germline mutation ⁵⁴ DISEASES inferred ¹³ GeneCards inferred via : Publications, Summaries (show sections)
3	TPM3	Tropomyosin 3	502.07	Causative germline mutation ⁵⁴ Genetic Tests ²⁴ Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
4	RYR1	Ryanodine Receptor 1	449.38	Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
5	MYH7	Myosin Heavy Chain 7	423.81	Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
6	TPM2	Tropomyosin 2 (Beta)	375.83	Causative germline mutation ⁵⁴ DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
7	ITGA7	Integrin Subunit Alpha 7	365.57	Causative germline mutation ⁵⁴ DISEASES inferred ¹³
8	HACD1	3-Hydroxyacyl-CoA Dehydratase 1	350.00	Causative germline mutation (loss of function) ⁵⁴
9	MYL2	Myosin Light Chain 2	350.00	Causative germline mutation ⁵⁴
10	DYSF	Dysferlin	22.53	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
11	EMD	Emerin	22.45	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
12	DMD	Dystrophin	22.37	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
13	LMNA	Lamin A/C	22.00	DISEASES inferred ¹³ GeneCards inferred via : Publications (show sections)
14	GALC	Galactosylceramidase	18.27	GeneCards inferred via : Publications (show sections)
15	INSR	Insulin Receptor	17.72	Novoseek inferred ⁵⁰	10844410
16	TNNI2	Troponin I2, Fast Skeletal Type	16.78	DISEASES inferred ¹³
17	TNNT3	Troponin T3, Fast Skeletal Type	16.73	DISEASES inferred ¹³

Variations for Congenital Fiber-Type Disproportion

Sources:
⁵Clinvar
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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
1	TPM3	NM_152263.3(TPM3): c.503G> A (p.Arg168His)	SNV	Pathogenic	rs121964852	GRCh37	Chr 1, 154145447: 154145447
2	TPM3	NM_152263.3(TPM3): c.298C> A (p.Leu100Met)	SNV	Pathogenic	rs121964853	GRCh37	Chr 1, 154148670: 154148670
3	TPM3	NM_152263.3(TPM3): c.502C> G (p.Arg168Gly)	SNV	Likely pathogenic, Pathogenic	rs121964854	GRCh37	Chr 1, 154145448: 154145448
4	TPM3	NM_152263.3(TPM3): c.502C> T (p.Arg168Cys)	SNV	Pathogenic	rs121964854	GRCh37	Chr 1, 154145448: 154145448
5	ACTA1	NM_001100.3(ACTA1): c.881A> T (p.Asp294Val)	SNV	Pathogenic	rs121909529	GRCh37	Chr 1, 229567577: 229567577
6	ACTA1	NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro)	SNV	Pathogenic	rs121909530	GRCh37	Chr 1, 229567881: 229567881
7	ACTA1	NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser)	SNV	Pathogenic	rs121909531	GRCh37	Chr 1, 229567380: 229567380
8	SELENON	NM_020451.2(SELENON): c.872+2T> C	SNV	Pathogenic	rs794727808	GRCh37	Chr 1, 26135643: 26135643
9	MYH7	NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)	deletion	Pathogenic	rs367543052	GRCh37	Chr 14, 23884685: 23884687
10	MYH7	NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)	SNV	Pathogenic	rs367543053	GRCh37	Chr 14, 23882064: 23882064
11	RYR1	NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly)	SNV	Likely pathogenic, Pathogenic	rs367543058	GRCh37	Chr 19, 39010039: 39010039
12	RYR1	NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)	SNV	Pathogenic	rs118192117	GRCh37	Chr 19, 38942486: 38942486
13	RYR1	NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)	SNV	Pathogenic	rs143849895	GRCh37	Chr 19, 39057593: 39057593
14	RYR1	NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)	SNV	Pathogenic	rs367543055	GRCh37	Chr 19, 38976628: 38976628
15	RYR1	NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)	SNV	Pathogenic	rs367543056	GRCh37	Chr 19, 38981349: 38981349
16	RYR1	NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)	SNV	Pathogenic	rs367543054	GRCh37	Chr 19, 38937346: 38937346
17	RYR1	NM_000540.2(RYR1): c.9000+1G> T	SNV	Pathogenic	rs111364670	GRCh37	Chr 19, 39001206: 39001206
18	RYR1	NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)	SNV	Pathogenic	rs367543057	GRCh37	Chr 19, 39008291: 39008291
19	ACTA1	NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)	SNV	Pathogenic	rs367543049	GRCh37	Chr 1, 229568614: 229568614
20	ACTA1	NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)	SNV	Pathogenic	rs367543048	GRCh37	Chr 1, 229568847: 229568847
21	ACTA1	NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)	SNV	Pathogenic	rs367543050	GRCh37	Chr 1, 229567928: 229567928
22	ACTA1	NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)	SNV	Pathogenic	rs367543051	GRCh37	Chr 1, 229567822: 229567822
23	TPM3	NM_152263.3(TPM3): c.11C> T (p.Ala4Val)	SNV	Pathogenic	rs199474711	GRCh37	Chr 1, 154164484: 154164484
24	TPM3	NM_152263.3(TPM3): c.272G> C (p.Arg91Pro)	SNV	Pathogenic	rs199474713	GRCh37	Chr 1, 154148696: 154148696
25	TPM3	NM_152263.3(TPM3): c.505A> G (p.Lys169Glu)	SNV	Pathogenic	rs199474715	GRCh37	Chr 1, 154145445: 154145445
26	TPM3	NM_152263.3(TPM3): c.721G> A (p.Glu241Lys)	SNV	Pathogenic	rs199474717	GRCh37	Chr 1, 154142930: 154142930
27	TPM3	NM_152263.3(TPM3): c.733A> G (p.Arg245Gly)	SNV	Pathogenic	rs199474718	GRCh37	Chr 1, 154142918: 154142918
28	SELENON	NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs)	duplication	Pathogenic	rs368104077	GRCh38	Chr 1, 25808755: 25808755
29	SELENON	NM_020451.2(SELENON): c.943G> A (p.Gly315Ser)	SNV	Pathogenic	rs121908188	GRCh37	Chr 1, 26136244: 26136244

Expression for genes affiliated with Congenital Fiber-Type Disproportion

Sources:
¹⁸Gene Expression Omnibus DataSets
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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

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

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

(show all 11)

id	Super pathways	Score	Top Affiliating Genes
1	Cardiomyocyte Differentiation through BMP Receptors⁵⁸	9.9	MYH7, MYL2
2	Muscular Dystrophies and Dystrophin-Glycoprotein Complex⁵⁸	9.9	ACTA1, DMD
3	RhoGDI Pathway⁵⁸ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages⁵⁸	9.7	ACTA1, MYH7, MYL2
4	Smooth Muscle Contraction⁶⁰	9.6	DYSF, TPM2, TPM3
5	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases⁶⁵ Show member pathways Development MAG-dependent inhibition of neurite outgrowth⁶⁵ Cell adhesion Tight junctions⁶⁵ Cytoskeleton remodeling Integrin outside-in signaling⁶⁵ Cell adhesion Integrin-mediated cell adhesion and migration⁶⁵	9.4	ACTA1, ITGA7, MYH7, MYL2
6	Cardiac muscle contraction³⁴	9.4	MYH7, MYL2, TPM2, TPM3
7	DREAM Repression and Dynorphin Expression⁵⁸ Show member pathways TOB in Osteoblast Signaling⁵⁸ BMP Pathway⁵⁸ Caspase Cascade⁵⁸ nNOS Signaling in Skeletal Muscle⁵⁸ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels⁶⁰	8.9	ACTA1, DMD, ITGA7, LMNA, RYR1
8	Actin Nucleation by ARP-WASP Complex⁵⁸ Show member pathways RhoA Pathway⁵⁸ CDC42 Pathway⁵⁸ Actin Nucleation and Branching⁵⁸	8.8	ACTA1, INSR, ITGA7, MYH7, MYL2
9	cGMP-PKG signaling pathway³⁴ Show member pathways Adrenergic signaling in cardiomyocytes³⁴	8.8	INSR, MYH7, MYL2, TPM2, TPM3
10	Striated Muscle Contraction⁴² ⁶⁰	7.7	ACTA1, DMD, MYL2, TNNI2, TNNT3, TPM2
11	Cardiac conduction⁶⁰ Show member pathways Ion homeostasis⁶⁰ Muscle contraction⁶⁰ Ion transport by P-type ATPases⁶⁰ Phase 3 - rapid repolarisation⁶⁰ Physiological factors⁶⁰ Phase 4 - resting membrane potential⁶⁰ Classical Kir channels⁶⁰ Phase 1 - inactivation of fast Na+ channels⁶⁰ Tandem pore domain halothane-inhibited K+ channel (THIK)⁶⁰ Tandem pore domain potassium channels⁶⁰ TWIK-related alkaline pH activated K+ channel (TALK)⁶⁰ TWIK-related spinal cord K+ channel (TRESK)⁶⁰ TWIK related potassium channel (TREK)⁶⁰ TWIK-releated acid-sensitive K+ channel (TASK)⁶⁰ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)⁶⁰	7.3	DMD, DYSF, MYL2, RYR1, TNNI2, TNNT3

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

Sources:
¹⁹Gene Ontology
See all MalaCards sources

Cellular components related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle thin filament tropomyosin	GO:0005862	10.5	TPM2, TPM3
2	sarcomere	GO:0030017	10.2	ACTA1, MYH7, MYL2
3	myofibril	GO:0030016	10.0	DMD, MYH7, MYL2
4	stress fiber	GO:0001725	10.0	ACTA1, MYH7, TPM3
5	troponin complex	GO:0005861	9.1	TNNI2, TNNT3

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

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of the force of heart contraction	GO:0002026	10.4	MYH7, MYL2
2	skeletal muscle fiber development	GO:0048741	10.4	ACTA1, RYR1
3	muscle fiber development	GO:0048747	10.4	DMD, MYL2
4	mitotic nuclear envelope reassembly	GO:0007084	10.3	EMD, LMNA
5	regulation of ATPase activity	GO:0043462	10.2	TNNT3, TPM2
6	regulation of striated muscle contraction	GO:0006942	10.2	MYL2, TNNT3
7	muscle organ development	GO:0007517	9.9	DMD, EMD, ITGA7
8	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.9	MYH7, MYL2
9	skeletal muscle contraction	GO:0003009	9.3	MYH7, TNNI2, TNNT3
10	cardiac muscle contraction	GO:0060048	9.3	DMD, MYH7, MYL2, TNNI2
11	muscle contraction	GO:0006936	9.2	ACTA1, DYSF, EMD, MYH7, RYR1, TPM2
12	muscle filament sliding	GO:0030049	8.0	ACTA1, DMD, MYH7, MYL2, TNNI2, TNNT3

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

id	Name	GO ID	Score	Top Affiliating Genes
1	myosin binding	GO:0017022	10.3	ACTA1, DMD
2	structural constituent of muscle	GO:0008307	9.5	DMD, MYL2, TPM2
3	actin binding	GO:0003779	8.1	DMD, EMD, MYH7, TNNI2, TNNT3, TPM2