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

Summaries for Congenital Fiber-Type Disproportion

Sources:
²²Genetics Home Reference, ⁴²NIH Rare Diseases, ⁴⁶OMIM, ⁶⁴Wikipedia, ²⁰GeneReviews, ³²MalaCards
See all sources

Genetics Home Reference:²² 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 based summary: Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to centronuclear myopathy and respiratory failure, 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 Selenium Pathway and RhoA signaling pathway. The compounds (r)-(+)-blebbistatin and ryanodine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and heart, and related mouse phenotypes are respiratory system and behavior/neurological.

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

OMIM:⁴⁶ Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative... (255310) more...

Wikipedia:⁶⁴ Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

Description from OMIM:⁴⁶ 300580

GeneReviews summary for cftd

Aliases & Classifications for Congenital Fiber-Type Disproportion

Sources:
²⁰GeneReviews, ⁴²NIH Rare Diseases, ²¹GeneTests, ²³GTR, ²²Genetics Home Reference, ⁴⁶OMIM, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Congenital Fiber-Type Disproportion, Aliases & Descriptions:

Name: Congenital Fiber-Type Disproportion ²⁰ ²²

Congenital Fiber Type Disproportion ⁴² ²¹ ⁴⁴ ⁶¹

Cftdm ²⁰ ⁴² ²² ⁴⁸

Myopathy, Congenital with Fiber-Type Disproportion ⁴² ²³

Fiber-Type Disproportion Myopathy, Congenital ⁴² ⁴⁴

Congenital Fiber-Type Disproportion Myopathy ⁴² ⁴⁸

Myopathy, Congenital, with Fiber-Type Disproportion ⁴⁶

Congenital Myopathy with Fiber-Type Disproportion ²⁰

Congenital Myopathy with Fiber Type Disproportion ²²

Cftd ²²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases

ICD10: ²⁷

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁴⁸

Rare neurological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

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

External Ids:

OMIM⁴⁶ 255310, 300580

ICD10 via Orphanet²⁷ G71.2

UMLS via Orphanet⁶² C0546264

Related Diseases for Congenital Fiber-Type Disproportion

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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 35)

id	Related Disease	Score	Top Affiliating Genes
1	centronuclear myopathy	30.7	RYR1, PTPLA
2	respiratory failure	30.6	ACTA1, RYR1
3	myopathy	30.6	TPM2, SEPN1, MYH7, ACTA1, ITGA7, RYR1
4	myotonic dystrophy	30.5	RYR1, MYH7, INSR
5	myopathy, congenital, with fiber-type disproportion 1	10.6
6	myopathy, congenital, with fiber-type disproportion, x-linked	10.6
7	acta1-related congenital fiber-type disproportion	10.5
8	ryr1-related congenital fiber-type disproportion	10.5
9	sepn1-related congenital fiber-type disproportion	10.5
10	tpm3-related congenital fiber-type disproportion	10.5
11	myh7-related congenital fiber-type disproportion	10.5
12	tpm2-related congenital fiber-type disproportion	10.5
13	insulin resistance	10.5
14	rigid spine syndrome	10.4	SEPN1
15	clubfoot	10.3
16	qazi markouizos syndrome	10.3
17	leukodystrophy	10.3
18	melanoma	10.3
19	ophthalmoplegia	10.3
20	1p36 deletion syndrome	10.3
21	myosin storage myopathy	10.3
22	multiminicore disease	10.3	RYR1, SEPN1
23	central core myopathy	10.3	RYR1, SEPN1
24	malignant hyperthermia	10.2	SEPN1, RYR1
25	distal arthrogryposis	10.2	TPM3, TPM2
26	arrhythmogenic right ventricular cardiomyopathy	10.2	RYR1, PTPLA
27	sudden cardiac death multi-gene panels	10.2	RYR1, MYH7
28	nemaline myopathy	10.1	ACTA1, TPM3, TPM2
29	muscular dystrophy	10.0	ITGA7, SEPN1
30	neuromuscular disease	10.0	RYR1, ACTA1
31	familial hypertrophic cardiomyopathy	10.0	MYL2, MYH7
32	hypertrophic cardiomyopathy	9.9	TPM3, MYH7, MYL2
33	congenital heart disease	9.9	RYR1, MYH7, INSR
34	noonan syndrome	9.9	RYR1, MYL2, MYH7
35	myopathy congenital	9.7	SEPN1, MYH7, ACTA1, ITGA7, RYR1

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

Symptoms for Congenital Fiber-Type Disproportion

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

255310

Clinical features from OMIM:

255310,300580

Symptoms:

⁴⁸ (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 34)

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
7	scoliosis	25%	HP:0002650
8	limb joint contracture	25%	HP:0003121
9	ophthalmoplegia	20%	HP:0000602
10	congenital hip dislocation	13%	HP:0001374
11	autosomal dominant inheritance		HP:0000006
12	high palate		HP:0000218
13	narrow face		HP:0000275
14	long face		HP:0000276
15	ptosis		HP:0000508
16	bulbar palsy		HP:0001283
17	neonatal hypotonia		HP:0001319
18	heterogeneous		HP:0001425
19	failure to thrive		HP:0001508
20	decreased fetal movement		HP:0001558
21	weak cry		HP:0001612
22	dilated cardiomyopathy		HP:0001644
23	dysphagia		HP:0002015
24	respiratory insufficiency		HP:0002093
25	respiratory insufficiency due to muscle weakness		HP:0002747
26	lumbar hyperlordosis		HP:0002938
27	generalized muscle weakness		HP:0003324
28	congenital onset		HP:0003577
29	centrally nucleated skeletal muscle fibers		HP:0003687
30	proximal muscle weakness		HP:0003701
31	type 1 fibers relatively smaller than type 2 fibers		HP:0003755
32	variable expressivity		HP:0003828
33	facial palsy		HP:0010628
34	feeding difficulties		HP:0011968

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Congenital Fiber-Type Disproportion

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Congenital Fiber-Type Disproportion:

id	Genetic test	Affiliating Genes
1	Congenital Fiber-Type Disproportion²¹	TPM3
2	Congenital Myopathy with Fiber Type Disproportion²³

Anatomical Context for Congenital Fiber-Type Disproportion

Sources:
³²MalaCards
See all sources

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

³²

Skeletal muscle, Eye, Heart

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.5	INSR, SEPN1, MYL2, RYR1
2	behavior/neurological phenotype	MP:0005386	8.4	RYR1, ITGA7, ACTA1, SEPN1, INSR
3	growth/size/body phenotype	MP:0005378	7.8	INSR, SEPN1, MYL2, ACTA1, ITGA7, RYR1
4	homeostasis/metabolism phenotype	MP:0005376	7.8	INSR, SEPN1, MYL2, ACTA1, ITGA7, RYR1
5	muscle phenotype	MP:0005369	7.6	RYR1, INSR, TPM3, SEPN1, MYL2, ACTA1
6	mortality/aging	MP:0010768	7.5	INSR, TPM3, MYL2, ACTA1, ITGA7, RYR1

Publications for Congenital Fiber-Type Disproportion

Sources:
⁵¹PubMed
See all sources

Articles related to Congenital Fiber-Type Disproportion:

(show all 40)

id	Title	Authors	Year
1	Congenital fiber type disproportion myopathy caused by LMNA mutations. (24642510)	Kajino S.... Hayashi Y.K.	2014
2	A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. (23762716)	Kimura S.... Yoshioka K.	2013
3	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
4	A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)	Ortolano S.... Sobrido M.J.	2011
5	Congenital fiber-type disproportion. (22172422)	Clarke N.F.	2011
6	Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. (20583297)	Clarke N.F.... North K.N.	2010
7	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
8	Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)	Tominaga K.... Nishino I.	2010
9	Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)	Watanabe H.... Machida J.	2009
10	Mutations in TPM3 are a common cause of congenital fiber type disproportion. (18300303)	Clarke N.F.... North K.N.	2008
11	The pathogenesis of ACTA1-related congenital fiber type disproportion. (17387733)	Clarke N.F.... North K.	2007
12	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
13	SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (16365872)	Clarke N.F.... North K.N.	2006
14	An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. (15960177)	Fujita K.... Kusaka H.	2005
15	A novel X-linked form of congenital fiber-type disproportion. (16173074)	Clarke N.F.... North K.N.	2005
16	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
17	Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)	Sharma M.C.... Sarkar C.	2004
18	Congenital fiber type disproportion--30 years on. (14575234)	Clarke N.F.... North K.N.	2003
19	A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)	Okamoto N.... Matsumoto N.	2002
20	Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. (10828713)	Bigner D.R.... Yankowitz J.	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)	Vorwerk P.... De Meyts P.	1999
22	Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)	Banwell B.L.... Vajsar J.	1999
23	Congenital fiber type disproportion: severe form with marked improvement. (10513694)	Tsuji M.... Hattori H.	1999
24	A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. (9343958)	Seigler R.S.... Rogers C.	1997
25	Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. (9484111)	Baccetti T.... Donati M.A.	1997
26	Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)	MarjanoviA8 B.... DjuriA8 M.	1996
27	Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. (8745394)	Nakagawa E.... Nonaka I.	1996
28	Congenital Fiber-Type Disproportion (20301436)	Pagon R.A.... Stephens K.	1993
29	Congenital fiber type disproportion in two sisters. A clinical and histopathological study. (1293983)	Marolda M.	1992
30	Early predictors of poor outcome in congenital fiber-type disproportion myopathy. (1524518)	Torres C.F.... Moxley R.T.	1992
31	Congenital fiber type disproportion: report of one case. (2284944)	Chang J.F.... Chiang C.H.	1990
32	A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. (2240465)	Mizuno Y.... Komiya K.	1990
33	Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)	Kohyama J.... Nonaka I.	1989
34	Congenital fiber type disproportion in an adult: a morphometric and microchemical study. (2972157)	Haltia M.... Rehunen S.	1988
35	Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. (3342545)	Jaffe M.... Borochowitz Z.	1988
36	Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. (3978981)	Santoro L.... Barbieri F.	1985
37	Congenital fiber type disproportion with fatal outcome: a case report. (7341555)	Carboni P.... Sideri G.	1981
38	Ophthalmoplegia and ptosis in congenital fiber type disproportion. (7264853)	Owen J.S.... Benton J.W.	1981
39	Clinical variability in congenital fiber type disproportion. (7381515)	Clancy R.R.... Oehlert J.W.	1980
40	Congenital fiber type disproportion in identical twins. (569460)	Curless R.G.... Nelson M.B.	1977

Genes related to Congenital Fiber-Type Disproportion

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot, ²¹GeneTests
See all sources

Genes related to Congenital Fiber-Type Disproportion:

- Elite gene

id	Symbol	Description	Score	Implication
1	TPM3	tropomyosin 3	21.22	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ Genetic Tests ²¹ GeneCards inferred via : Publications (show sections)
2	SEPN1	selenoprotein N, 1	19.20	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative germline mutation ⁴⁸ GeneCards inferred via : Publications, Disorders (show sections)
3	ACTA1	actin, alpha 1, skeletal muscle	17.25	Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Publications, Disorders (show sections)
4	RYR1	ryanodine receptor 1 (skeletal)	15.20	Pathogenic ⁷ Causative variation ⁶³ GeneCards inferred via : Publications (show sections)
5	MYH7	myosin, heavy chain 7, cardiac muscle, beta	13.17	Pathogenic ⁷ GeneCards inferred via : Publications (show sections)
6	TPM2	tropomyosin 2 (beta)	11.17	Causative germline mutation ⁴⁸ GeneCards inferred via : Publications (show sections)
7	ITGA7	integrin, alpha 7	8.00	Causative germline mutation ⁴⁸
8	MYL2	myosin, light chain 2, regulatory, cardiac, slow	6.00	Causative germline mutation ⁴⁸
9	PTPLA	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	4.00	Causative germline mutation (loss of function) ⁴⁸
10	INSR	insulin receptor	3.12	GeneCards inferred via : Publications (show sections)

Products for genes related to Congenital Fiber-Type Disproportion disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	8	-	10	10
2	Novus Biologicals	7	5	10	-

Variations for Congenital Fiber-Type Disproportion

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
See all sources

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

⁶³ (show all 17)

id	Symbol	AA change	Variation ID
1	ACTA1	p.Leu223Pro	VAR_032917
2	ACTA1	p.Asp294Val	VAR_032918
3	ACTA1	p.Pro334Ser	VAR_032919
4	RYR1	p.Met402Thr	VAR_063846
5	RYR1	p.His2035Leu	VAR_063847
6	RYR1	p.Asn3326Lys	VAR_063848
7	RYR1	p.Cys3402Gly	VAR_063849
8	TPM3	p.Leu100Met	VAR_070066
9	TPM3	p.Arg168Cys	VAR_070067
10	TPM3	p.Arg168Gly	VAR_070068
11	TPM3	p.Lys169Glu	VAR_070070
12	TPM3	p.Arg245Gly	VAR_070071
13	TPM3	p.Ala4Val	VAR_071499
14	TPM3	p.Arg91Pro	VAR_071502
15	TPM3	p.Leu100Val	VAR_071503
16	TPM3	p.Glu174Ala	VAR_071506
17	TPM3	p.Glu241Lys	VAR_071507

Clinvar genetic disease variations for Congenital Fiber-Type Disproportion:

⁷ (show all 27)

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	TPM3	NM_001043353.1(TPM3): c.392G> A (p.Arg131His)	single nucleotide variant	Pathogenic	rs121964852	GRCh37	Chr 1, 154145447: 154145447
2	TPM3	NM_001043353.1(TPM3): c.187C> A (p.Leu63Met)	single nucleotide variant	Pathogenic	rs121964853	GRCh37	Chr 1, 154148670: 154148670
3	TPM3	NM_001043353.1(TPM3): c.391C> G (p.Arg131Gly)	single nucleotide variant	Pathogenic	rs121964854	GRCh37	Chr 1, 154145448: 154145448
4	TPM3	NM_001043353.1(TPM3): c.391C> T (p.Arg131Cys)	single nucleotide variant	Pathogenic	rs121964854	GRCh37	Chr 1, 154145448: 154145448
5	ACTA1	NM_001100.3(ACTA1): c.881A> T (p.Asp294Val)	single nucleotide variant	Pathogenic	rs121909529	GRCh37	Chr 1, 229567577: 229567577
6	ACTA1	NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro)	single nucleotide variant	Pathogenic	rs121909530	GRCh37	Chr 1, 229567881: 229567881
7	ACTA1	NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser)	single nucleotide variant	Pathogenic	rs121909531	GRCh37	Chr 1, 229567380: 229567380
8	MYH7	NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)	deletion	Likely pathogenic, Pathogenic	rs367543052	GRCh37	Chr 14, 23884685: 23884687
9	MYH7	NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)	single nucleotide variant	Pathogenic	rs367543053	GRCh37	Chr 14, 23882064: 23882064
10	RYR1	NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly)	single nucleotide variant	Pathogenic	rs367543058	GRCh37	Chr 19, 39010039: 39010039
11	RYR1	NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)	single nucleotide variant	Pathogenic	rs118192117	GRCh37	Chr 19, 38942486: 38942486
12	RYR1	NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)	single nucleotide variant	Pathogenic	rs143849895	GRCh37	Chr 19, 39057593: 39057593
13	RYR1	NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)	single nucleotide variant	Pathogenic	rs367543055	GRCh37	Chr 19, 38976628: 38976628
14	RYR1	NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)	single nucleotide variant	Pathogenic	rs367543056	GRCh37	Chr 19, 38981349: 38981349
15	RYR1	NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)	single nucleotide variant	Pathogenic	rs367543054	GRCh37	Chr 19, 38937346: 38937346
16	RYR1	NM_000540.2(RYR1): c.9000+1G> T	single nucleotide variant	Pathogenic	rs111364670	GRCh37	Chr 19, 39001206: 39001206
17	RYR1	NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)	single nucleotide variant	Pathogenic	rs367543057	GRCh37	Chr 19, 39008291: 39008291
18	ACTA1	NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)	single nucleotide variant	Pathogenic	rs367543049	GRCh37	Chr 1, 229568614: 229568614
19	ACTA1	NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)	single nucleotide variant	Pathogenic	rs367543048	GRCh37	Chr 1, 229568847: 229568847
20	ACTA1	NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)	single nucleotide variant	Pathogenic	rs367543050	GRCh37	Chr 1, 229567928: 229567928
21	ACTA1	NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)	single nucleotide variant	Pathogenic	rs367543051	GRCh37	Chr 1, 229567822: 229567822
22	TPM3	NM_152263.3(TPM3): c.11C> T (p.Ala4Val)	single nucleotide variant	Pathogenic	rs199474711	GRCh37	Chr 1, 154164484: 154164484
23	TPM3	NM_001043353.1(TPM3): c.161G> C (p.Arg54Pro)	single nucleotide variant	Pathogenic	rs199474713	GRCh37	Chr 1, 154148696: 154148696
24	TPM3	NM_001043353.1(TPM3): c.394A> G (p.Lys132Glu)	single nucleotide variant	Pathogenic	rs199474715	GRCh37	Chr 1, 154145445: 154145445
25	TPM3	NM_001043353.1(TPM3): c.610G> A (p.Glu204Lys)	single nucleotide variant	Pathogenic	rs199474717	GRCh37	Chr 1, 154142930: 154142930
26	TPM3	NM_001043353.1(TPM3): c.622A> G (p.Arg208Gly)	single nucleotide variant	Pathogenic	rs199474718	GRCh37	Chr 1, 154142918: 154142918
27	SEPN1	NM_020451.2(SEPN1): c.943G> A (p.Gly315Ser)	single nucleotide variant	Pathogenic	rs121908188	GRCh37	Chr 1, 26136244: 26136244

Expression for genes affiliated with Congenital Fiber-Type Disproportion

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵²QIAGEN, ⁵⁴Reactome, ³⁰KEGG, ⁵⁹Thomson Reuters
See all sources

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

(show all 18)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Selenium Pathway³⁷ Show member pathways thioredoxin pathway³⁷	9.6	SEPN1, INSR
2	RhoA signaling pathway³⁷	9.5	MYL2, ACTA1
3	Cardiomyocyte Differentiation through BMP Receptors⁵²	9.4	MYL2, MYH7
4	DREAM Repression and Dynorphin Expression⁵² Show member pathways Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels⁵⁴ Calpain Protease Regulates Cellular Mechanics⁵² BMP Pathway⁵² TOB in Osteoblast Signaling⁵² Caspase Cascade⁵² nNOS Signaling in Skeletal Muscle⁵²	9.2	RYR1, ITGA7, ACTA1
5	Myometrial Relaxation and Contraction Pathways³⁷ Show member pathways Calcium Regulation in the Cardiac Cell³⁷	9.1	MYL2, ACTA1, RYR1
6	RhoGDI Pathway⁵² Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages⁵²	9.1	MYH7, MYL2, ACTA1
7	Sweet Taste Signaling⁵² Show member pathways Bitter Taste Signaling⁵² Melatonin Signaling⁵² Sperm Motility⁵² Cellular Effects of Sildenafil⁵²	9.1	ACTA1, MYL2, MYH7
8	NFAT and Cardiac Hypertrophy⁵² Show member pathways Signaling Involved in Cardiac Hypertrophy⁵² IGF1R Signaling⁵²	9.1	ITGA7, ACTA1, INSR
9	Beta-Adrenergic Signaling⁵² Show member pathways Erythropoietin Pathway⁵² CDK5 Pathway⁵² Insulin Receptor Pathway⁵²	9.1	RYR1, ITGA7, INSR
10	Striated Muscle Contraction³⁷ Show member pathways Smooth Muscle Contraction⁵⁴ Muscle contraction⁵⁴ Striated Muscle Contraction⁵⁴	8.8	TPM2, TPM3, MYL2, ACTA1
11	Adrenergic signaling in cardiomyocytes³⁰	8.7	MYL2, MYH7, TPM3, TPM2
12	Cardiac muscle contraction³⁰	8.7	MYL2, MYH7, TPM3, TPM2
13	Integrin Pathway⁵² Show member pathways Inhibition of Angiogenesis by TSP1⁵² Transendothelial Migration of Leukocytes⁵² FAK1 Signaling⁵² GnRH Signaling⁵² UPA-UPAR Pathway⁵²	8.6	ITGA7, ACTA1, MYL2, MYH7
14	Cell adhesion Integrin mediated cell adhesion and migration⁵⁹ Show member pathways Cytoskeleton remodeling Fibronectin binding integrins in cell motility⁵⁹ Cytoskeleton remodeling Integrin outside in signaling⁵⁹ Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases⁵⁹ Cell adhesion Tight junctions⁵⁹ Development MAG dependent inhibition of neurite outgrowth⁵⁹	8.6	MYH7, MYL2, ACTA1, ITGA7
15	Sertoli-Sertoli Cell Junction Dynamics⁵² Show member pathways Germ Cell-Sertoli Cell Junction Dynamics⁵² Epithelial Tight Junctions⁵²	8.6	ITGA7, ACTA1, MYL2, MYH7
16	Hypertrophic cardiomyopathy (HCM)³⁰ Show member pathways Arrhythmogenic right ventricular cardiomyopathy (ARVC)³⁰ Arrhythmogenic right ventricular cardiomyopathy³⁷ Dilated cardiomyopathy³⁰	8.2	ITGA7, MYL2, MYH7, TPM3, TPM2
17	Actin Nucleation by ARP-WASP Complex⁵² Show member pathways CDC42 Pathway⁵² RhoA Pathway⁵² Actin Nucleation and Branching⁵²	8.1	INSR, MYH7, MYL2, ACTA1, ITGA7
18	ERK Signaling⁵² Show member pathways ILK Signaling⁵² Molecular Mechanisms of Cancer⁵² Rho Family GTPases⁵² MAPK Signaling⁵²	8.1	INSR, MYH7, MYL2, ACTA1, ITGA7

Compounds for genes affiliated with Congenital Fiber-Type Disproportion

Sources:
⁶⁰Tocris Bioscience, ⁴⁴Novoseek, ²⁹IUPHAR, ¹²DrugBank, ⁵⁰PharmGKB, ²⁵HMDB
See all sources

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

(show all 11)

id	Compound	Score	Top Affiliating Genes
1	(r)-(+)-blebbistatin⁶⁰	9.6	MYH7, MYL2
2	ryanodine⁴⁴ ²⁹ ⁶⁰	11.6	RYR1, MYH7, SEPN1
3	bts⁶⁰	9.6	MYH7, MYL2
4	(s)-(-)-blebbistatin⁶⁰	9.5	MYH7, MYL2
5	gsno⁴⁴	9.5	INSR, RYR1
6	(+-)-blebbistatin⁶⁰	9.4	MYH7, MYL2
7	isoproterenol⁴⁴ ¹²	10.3	INSR, MYH7, RYR1
8	glutamine⁴⁴	8.9	RYR1, MYH7, INSR
9	lipid⁴⁴	8.8	RYR1, ACTA1, MYH7, INSR
10	creatinine⁴⁴	8.5	RYR1, ITGA7, ACTA1, MYH7, INSR
11	calcium⁴⁴ ⁵⁰ ²⁵ ¹²	10.9	TPM2, TPM3, SEPN1, MYH7, MYL2, ACTA1

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	myosin complex	GO:016459	9.4	MYL2, MYH7
2	muscle thin filament tropomyosin	GO:005862	9.4	TPM3, TPM2
3	stress fiber	GO:001725	9.3	TPM3, MYH7, ACTA1
4	sarcomere	GO:030017	9.1	ACTA1, MYL2, MYH7

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

id	Name	GO ID	Score	Top Affiliating Genes
1	skeletal muscle fiber development	GO:048741	9.5	RYR1, ACTA1
2	ventricular cardiac muscle tissue morphogenesis	GO:055010	9.4	MYL2, MYH7
3	muscle contraction	GO:006936	8.5	TPM2, TPM3, MYH7, ACTA1, RYR1
4	muscle filament sliding	GO:030049	8.3	ACTA1, MYL2, MYH7, TPM3, TPM2