Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: CNG046
MIFTS: 48

Congenital Fiber-Type Disproportion

Categories: Rare diseases, Neuronal diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Congenital Fiber-Type Disproportion

About this section

MalaCards integrated aliases for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 12 23 24 14
Congenital Fiber Type Disproportion 72 49 36 51
Cftdm 23 49 24 55
Congenital Myopathy with Fiber Type Disproportion 24 28
Congenital Fiber-Type Disproportion Myopathy 49 55
Myopathy, Congenital with Fiber-Type Disproportion 49
Congenital Myopathy with Fiber-Type Disproportion 23
Fiber-Type Disproportion Myopathy, Congenital 49
Cftd 24

Characteristics:

Orphanet epidemiological data:

55
congenital fiber-type disproportion myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080102
Orphanet 55 ORPHA2020
UMLS via Orphanet 70 C0546264
ICD10 via Orphanet 33 G71.2
KEGG 36 H00701
Sources

Summaries for Congenital Fiber-Type Disproportion

About this section
Genetics Home Reference : 24 Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).

MalaCards based summary : Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to myopathy, congenital, with fiber-type disproportion and myopathy, congenital, and has symptoms including pectus excavatum, muscular hypotonia and reduced tendon reflexes. An important gene associated with Congenital Fiber-Type Disproportion is ACTA1 (Actin, Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac muscle contraction and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include skeletal muscle, heart and eye, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 49 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 : 72 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews: NBK1259
Sources

Related Diseases for Congenital Fiber-Type Disproportion

About this section

Diseases related to Congenital Fiber-Type Disproportion via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 33.0 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
2 myopathy, congenital 31.2 ACTA1 DMD HACD1 ITGA7 MYH7 RYR1
3 myopathy 27.3 ACTA1 CFL2 DMD DYSF EMD HACD1
4 minicore myopathy with external ophthalmoplegia 11.2
5 qazi markouizos syndrome 11.2
6 intermediate congenital nemaline myopathy 10.6 ACTA1 TPM3
7 multiminicore disease 10.5 RYR1 SELENON
8 localized lipodystrophy 10.5 DMD DYSF
9 cardiac conduction defect 10.5 MYH7 RYR1
10 emerinopathy 10.4 EMD LMNA
11 cardiomyopathy, dilated, 1h 10.4 EMD LMNA
12 arthrogryposis, distal, type 1a 10.4 RYR1 TPM2
13 muscle disorders 10.4 RYR1 SELENON TPM3
14 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.4 EMD LMNA
15 central core disease of muscle 10.4 RYR1 SELENON
16 central core myopathy 10.4 MYH7 RYR1 SELENON
17 brody myopathy 10.4 DMD RYR1
18 muscular dystrophy, limb-girdle, type 2c 10.4 DMD DYSF
19 childhood-onset nemaline myopathy 10.3 ACTA1 TPM2 TPM3
20 myopathy, myofibrillar, 2 10.3 ACTA1 DMD MYH7
21 myopathy, tubular aggregate, 1 10.3 ACTA1 EMD RYR1
22 muscular dystrophy, limb-girdle, type 1b 10.3 EMD LMNA
23 scapuloperoneal myopathy 10.3 ACTA1 MYH7
24 cap myopathy 10.3 ACTA1 TPM2 TPM3
25 myopathy, proximal, and ophthalmoplegia 10.3 EMD LMNA RYR1
26 muscular dystrophy, congenital merosin-deficient, 1a 10.3 DMD LMNA
27 distal muscular dystrophy 10.3 DMD DYSF MYH7
28 muscular dystrophy, limb-girdle, type 2f 10.3 DMD DYSF
29 muscular dystrophy, congenital, lmna-related 10.3 EMD LMNA SELENON
30 neuromuscular disease 10.3 DMD EMD RYR1
31 cardiomyopathy, dilated, 1a 10.3 DMD EMD LMNA
32 muscular dystrophy, limb-girdle, type 2a 10.2 DMD DYSF LMNA
33 limb-girdle muscular dystrophy 10.2 DMD DYSF LMNA
34 pelger-huet anomaly 10.2 EMD LMNA
35 bethlem myopathy 1 10.1 DMD DYSF LMNA SELENON
36 typical congenital nemaline myopathy 10.1 ACTA1 CFL2 TPM2
37 myopathy, x-linked, with excessive autophagy 10.1 DMD EMD
38 atrial standstill 1 10.1 DMD EMD LMNA MYH7
39 arrhythmogenic right ventricular cardiomyopathy 10.1 DMD EMD LMNA RYR1
40 left ventricular noncompaction 10.1 LMNA MYH7 MYL2
41 rigid spine muscular dystrophy 1 10.0 ACTA1 DMD DYSF MYH7 SELENON
42 myopathy of extraocular muscle 10.0 MYH7 TNNT3
43 blood group, i system 10.0
44 lowe oculocerebrorenal syndrome 10.0
45 ventricular fibrillation, paroxysmal familial, 1 10.0
46 ptosis 10.0
47 leukodystrophy 10.0
48 respiratory failure 10.0
49 clubfoot 10.0
50 centronuclear myopathy 10.0

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



Diseases related to Congenital Fiber-Type Disproportion
Sources

Symptoms & Phenotypes for Congenital Fiber-Type Disproportion

About this section

Human phenotypes related to Congenital Fiber-Type Disproportion:

55 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 55 Frequent (79-30%)
2 muscular hypotonia 55 Very frequent (99-80%)
3 reduced tendon reflexes 55 Very frequent (99-80%)
4 recurrent respiratory infections 55 Frequent (79-30%)
5 scoliosis 55 Frequent (79-30%)
6 myopathy 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CFL2 DMD DYSF EMD GALC ITGA7
2 growth/size/body region MP:0005378 10.11 ACTA1 CFL2 DMD GALC ITGA7 LMNA
3 cardiovascular system MP:0005385 10.06 DMD EMD GALC ITGA7 LMNA MYH7
4 homeostasis/metabolism MP:0005376 10.06 ACTA1 DMD DYSF EMD GALC ITGA7
5 mortality/aging MP:0010768 9.93 ITGA7 LMNA MAP3K20 MYL2 RYR1 TNNI2
6 muscle MP:0005369 9.8 ACTA1 CFL2 DMD DYSF EMD GALC
7 limbs/digits/tail MP:0005371 9.73 DMD GALC LMNA MAP3K20 RYR1 TNNT3
8 skeleton MP:0005390 9.28 ACTA1 DMD GALC ITGA7 LMNA MAP3K20
Sources

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Sources

Genetic Tests for Congenital Fiber-Type Disproportion

About this section

Genetic tests related to Congenital Fiber-Type Disproportion:

# Genetic test Affiliating Genes
1 Congenital Myopathy with Fiber Type Disproportion 28 ACTA1 MYH7 RYR1 SELENON TPM2 TPM3
Sources

Anatomical Context for Congenital Fiber-Type Disproportion

About this section

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

38
Skeletal Muscle, Heart, Eye
Sources

Publications for Congenital Fiber-Type Disproportion

About this section

Articles related to Congenital Fiber-Type Disproportion:

(show all 44)
# Title Authors Year
1
An adult with a rare form of congenital fiber type disproportion. ( 28881016 )
2017
2
Congenital fiber-type disproportion in an ambulatory rehabilitation setting : AA case report. ( 28744779 )
2017
3
Congenital fiber-type disproportion presenting as ventricular fibrillation. ( 28786238 )
2017
4
Congenital fiber type disproportion. ( 26526626 )
2015
5
Congenital fiber type disproportion myopathy caused by LMNA mutations. ( 24642510 )
2014
6
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. ( 23762716 )
2013
7
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. ( 21864970 )
2012
8
Congenital fiber-type disproportion. ( 22172422 )
2011
9
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
10
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. ( 19953533 )
2010
11
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. ( 20583297 )
2010
12
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. ( 20179953 )
2010
13
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). ( 19483656 )
2009
14
Mutations in TPM3 are a common cause of congenital fiber type disproportion. ( 18300303 )
2008
15
The pathogenesis of ACTA1-related congenital fiber type disproportion. ( 17387733 )
2007
16
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. ( 16365872 )
2006
17
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. ( 16941741 )
2006
18
A novel X-linked form of congenital fiber-type disproportion. ( 16173074 )
2005
19
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. ( 15696781 )
2005
20
[An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. ( 15960177 )
2005
21
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. ( 15269486 )
2004
22
Congenital fiber type disproportion--30 years on. ( 14575234 )
2003
23
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. ( 12376748 )
2002
24
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. ( 10828713 )
2000
25
Cardiac manifestations of congenital fiber-type disproportion myopathy. ( 10073429 )
1999
26
Congenital fiber type disproportion: severe form with marked improvement. ( 10513694 )
1999
27
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
28
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. ( 9484111 )
1997
29
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. ( 9343958 )
1997
30
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. ( 8745394 )
1996
31
Association of Krabbe leukodystrophy and congenital fiber type disproportion. ( 8858709 )
1996
32
Congenital Fiber-Type Disproportion ( 20301436 )
1993
33
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. ( 1524518 )
1992
34
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. ( 1293983 )
1992
35
Congenital fiber type disproportion: report of one case. ( 2284944 )
1990
36
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. ( 2240465 )
1990
37
Congenital fiber type disproportion myopathy in Lowe syndrome. ( 2604802 )
1989
38
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. ( 3342545 )
1988
39
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. ( 2972157 )
1988
40
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. ( 3978981 )
1985
41
Ophthalmoplegia and ptosis in congenital fiber type disproportion. ( 7264853 )
1981
42
Congenital fiber type disproportion with fatal outcome: a case report. ( 7341555 )
1981
43
Clinical variability in congenital fiber type disproportion. ( 7381515 )
1980
44
Congenital fiber type disproportion in identical twins. ( 569460 )
1977
Sources

Variations for Congenital Fiber-Type Disproportion

About this section

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
2 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
3 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
4 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
5 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
6 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
7 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
8 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
9 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
10 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Pathogenic rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
11 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
12 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
13 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
14 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
15 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
16 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh37 Chromosome 19, 39001206: 39001206
17 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh37 Chromosome 19, 39008291: 39008291
18 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh37 Chromosome 1, 229568614: 229568614
19 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh37 Chromosome 1, 229568847: 229568847
20 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh37 Chromosome 1, 229567928: 229567928
21 ACTA1 NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys) single nucleotide variant Pathogenic rs367543051 GRCh37 Chromosome 1, 229567822: 229567822
22 TPM3 NM_152263.3(TPM3): c.11C> T (p.Ala4Val) single nucleotide variant Pathogenic rs199474711 GRCh37 Chromosome 1, 154164484: 154164484
23 TPM3 NM_152263.3(TPM3): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs199474713 GRCh37 Chromosome 1, 154148696: 154148696
24 TPM3 NM_152263.3(TPM3): c.505A> G (p.Lys169Glu) single nucleotide variant Pathogenic rs199474715 GRCh37 Chromosome 1, 154145445: 154145445
25 TPM3 NM_152263.3(TPM3): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic rs199474717 GRCh37 Chromosome 1, 154142930: 154142930
26 TPM3 NM_152263.3(TPM3): c.733A> G (p.Arg245Gly) single nucleotide variant Pathogenic rs199474718 GRCh37 Chromosome 1, 154142918: 154142918
27 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
28 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
29 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
30 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh37 Chromosome 1, 26135643: 26135643
31 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
32 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
33 SELENON NM_020451.2(SELENON): c.827_829dupCCT (p.Ala276_Cys277insSer) duplication Likely pathogenic rs797045950 GRCh38 Chromosome 1, 25809105: 25809107
34 SELENON NM_020451.2(SELENON): c.-11_81del92 deletion Pathogenic GRCh37 Chromosome 1, 26126711: 26126802
35 TPM3 NM_152263.3(TPM3): c.43G> C (p.Asp15His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 154164452: 154164452
36 TPM3 NM_152263.3(TPM3): c.758C> A (p.Thr253Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 154142893: 154142893
Sources

Expression for Congenital Fiber-Type Disproportion

About this section
Search GEO for disease gene expression data for Congenital Fiber-Type Disproportion.
Sources

Pathways for Congenital Fiber-Type Disproportion

About this section

Pathways related to Congenital Fiber-Type Disproportion according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Actin Nucleation by ARP-WASP Complex 60
Show member pathways
 12.74 ACTA1 CFL2 ITGA7 MYH7 MYL2
2
Sertoli-Sertoli Cell Junction Dynamics 60
Show member pathways
 12.67 ACTA1 CFL2 ITGA7 MAP3K20 MYH7 MYL2
3
Cardiac conduction 62
Show member pathways
 12.49 DMD DYSF MYL2 RYR1 TNNI2 TNNT3
4
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 21
Show member pathways
 12.39 ACTA1 CFL2 ITGA7 MYH7 MYL2
5
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 12.12 ACTA1 DMD EMD ITGA7 LMNA
6
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 21
Show member pathways
 11.96 ACTA1 CFL2 ITGA7 MYH7 MYL2
7
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.8 DMD EMD ITGA7 LMNA MYH7 MYL2
8
Cardiac muscle contraction 36
11.45 MYH7 MYL2 TPM2 TPM3
9
Smooth Muscle Contraction 62
11.1 DYSF TPM2 TPM3
10
Striated Muscle Contraction 1 62
11.02 ACTA1 DMD MYL2 TNNI2 TNNT3 TPM2
11
Cardiomyocyte Differentiation through BMP Receptors 60
10.84 MYH7 MYL2
12
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 60
10.76 ACTA1 DMD
Sources

GO Terms for Congenital Fiber-Type Disproportion

About this section

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.61 CFL2 DMD MYH7
2 actin filament GO:0005884 9.58 ACTA1 TPM2 TPM3
3 sarcomere GO:0030017 9.5 ACTA1 MYH7 MYL2
4 I band GO:0031674 9.46 CFL2 RYR1
5 stress fiber GO:0001725 9.43 ACTA1 MYH7 TPM3
6 troponin complex GO:0005861 9.37 TNNI2 TNNT3
7 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
8 myofibril GO:0030016 9.13 DMD MYH7 MYL2
9 actin cytoskeleton GO:0015629 9.02 ACTA1 CFL2 MYL2 TPM2 TPM3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 DMD EMD ITGA7
2 actin filament organization GO:0007015 9.65 CFL2 TPM2 TPM3
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 MYH7 MYL2
4 regulation of the force of heart contraction GO:0002026 9.55 MYH7 MYL2
5 muscle cell cellular homeostasis GO:0046716 9.54 CFL2 DMD
6 regulation of muscle contraction GO:0006937 9.52 TNNI2 TNNT3
7 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 DMD SELENON
8 skeletal muscle fiber development GO:0048741 9.5 ACTA1 RYR1 SELENON
9 muscle contraction GO:0006936 9.5 ACTA1 DYSF EMD MYH7 RYR1 TPM2
10 muscle fiber development GO:0048747 9.46 DMD MYL2
11 cardiac muscle contraction GO:0060048 9.46 DMD MYH7 MYL2 TNNI2
12 mitotic nuclear envelope reassembly GO:0007084 9.43 EMD LMNA
13 skeletal muscle contraction GO:0003009 9.43 MYH7 TNNI2 TNNT3
14 regulation of ATPase activity GO:0043462 9.4 TNNT3 TPM2
15 regulation of striated muscle contraction GO:0006942 9.37 MYL2 TNNT3
16 muscle filament sliding GO:0030049 9.23 ACTA1 DMD MYH7 MYL2 TNNI2 TNNT3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.46 CFL2 MYH7 TPM2 TPM3
2 myosin binding GO:0017022 9.26 ACTA1 DMD
3 structural constituent of muscle GO:0008307 9.26 DMD MYL2 TPM2 TPM3
4 actin binding GO:0003779 9.17 DMD EMD MYH7 TNNI2 TNNT3 TPM2
Sources

Sources for Congenital Fiber-Type Disproportion

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....