CFTD
MCID: CNG046
MIFTS: 51

Congenital Fiber-Type Disproportion (CFTD)

Categories: Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Congenital Fiber-Type Disproportion

MalaCards integrated aliases for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 12 24 25 6 15
Congenital Fiber Type Disproportion 76 53 37 55
Cftdm 24 53 25 59
Congenital Myopathy with Fiber Type Disproportion 25 29 6
Congenital Fiber-Type Disproportion Myopathy 53 59
Myopathy, Congenital, with Fiber Type Disproportion 40
Myopathy, Congenital with Fiber-Type Disproportion 53
Congenital Myopathy with Fiber-Type Disproportion 24
Fiber-Type Disproportion Myopathy, Congenital 53
Cftd 25

Characteristics:

Orphanet epidemiological data:

59
congenital fiber-type disproportion myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080102
Orphanet 59 ORPHA2020
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 74 C0546264
KEGG 37 H00701
ICD10 33 G71.2

Summaries for Congenital Fiber-Type Disproportion

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 congenital fiber type disproportion, is related to myopathy, congenital, with fiber-type disproportion and myopathy, congenital. 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 heart, eye and skeletal muscle, and related phenotypes are pectus excavatum and high palate

NIH Rare Diseases : 53 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.

Wikipedia : 76 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews: NBK1259

Related Diseases for 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 73)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 33.3 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
2 myopathy, congenital 31.8 ACTA1 DMD DYSF HACD1 ITGA7 MYH7
3 muscle disorders 30.6 RYR1 SELENON TPM3
4 myopathy 30.4 ACTA1 CFL2 DYSF EMD MYH7 RYR1
5 nemaline myopathy 30.2 ACTA1 CFL2 TPM2 TPM3
6 dilated cardiomyopathy 30.0 DMD EMD LMNA MYH7 MYL2
7 myopathy, congenital, with fiber-type disproportion, x-linked 12.6
8 minicore myopathy with external ophthalmoplegia 11.3
9 qazi markouizos syndrome 11.3
10 intermediate congenital nemaline myopathy 10.3 ACTA1 TPM3
11 multiminicore disease 10.3 RYR1 SELENON
12 localized lipodystrophy 10.2 DMD DYSF
13 emerinopathy 10.2 EMD LMNA
14 cardiomyopathy, dilated, 1h 10.2 EMD LMNA
15 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 DMD DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 DMD DYSF
17 emery-dreifuss muscular dystrophy 1, x-linked 10.2 EMD LMNA
18 central core myopathy 10.2 MYH7 RYR1 SELENON
19 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 DMD DYSF
20 autosomal dominant limb-girdle muscular dystrophy 10.2 EMD LMNA
21 autosomal dominant limb-girdle muscular dystrophy type 1b 10.2 EMD LMNA
22 myopathy, myofibrillar, 2 10.2 ACTA1 DMD MYH7
23 childhood-onset nemaline myopathy 10.2 ACTA1 TPM2 TPM3
24 cap myopathy 10.2 ACTA1 TPM2 TPM3
25 myopathy, tubular aggregate, 1 10.2 ACTA1 EMD RYR1
26 arthrogryposis, distal, type 1a 10.2 RYR1 TPM2
27 brody myopathy 10.2 DMD RYR1
28 central core disease of muscle 10.2 RYR1 SELENON
29 cardiac conduction defect 10.2 LMNA MYH7 RYR1
30 miyoshi muscular dystrophy 10.1 DMD DYSF MYH7
31 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA RYR1
32 muscular dystrophy, congenital merosin-deficient, 1a 10.1 DMD LMNA
33 myofibrillar myopathy 10.1 ACTA1 DMD LMNA
34 intrinsic cardiomyopathy 10.1 DMD LMNA MYH7
35 cardiomyopathy, dilated, 1a 10.1 DMD EMD LMNA
36 lowe oculocerebrorenal syndrome 10.1
37 ventricular fibrillation, paroxysmal familial, 1 10.1
38 ptosis 10.1
39 leukodystrophy 10.1
40 respiratory failure 10.1
41 clubfoot 10.1
42 centronuclear myopathy 10.1
43 melanoma 10.1
44 myotonic dystrophy 10.1
45 myosin storage myopathy 10.1
46 myotonia atrophica 10.1
47 autosomal genetic disease 10.1 DMD LMNA RYR1
48 restrictive cardiomyopathy 10.1 ACTA1 MYH7 MYL2
49 pelger-huet anomaly 10.1 EMD LMNA
50 limb-girdle muscular dystrophy 10.1 DMD DYSF LMNA

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

Human phenotypes related to Congenital Fiber-Type Disproportion:

59 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 Frequent (79-30%)
2 high palate 59 Frequent (79-30%)
3 ptosis 59 Occasional (29-5%)
4 intellectual disability 59 Very rare (<4-1%)
5 muscular hypotonia 59 Very frequent (99-80%)
6 failure to thrive 59 Frequent (79-30%)
7 hyperlordosis 59 Occasional (29-5%)
8 recurrent respiratory infections 59 Frequent (79-30%)
9 short stature 59 Occasional (29-5%)
10 myopathy 59 Very frequent (99-80%)
11 respiratory insufficiency due to muscle weakness 59 Frequent (79-30%)
12 generalized muscle weakness 59 Very frequent (99-80%)
13 micrognathia 59 Occasional (29-5%)
14 feeding difficulties 59 Frequent (79-30%)
15 cryptorchidism 59 Very rare (<4-1%)
16 dilated cardiomyopathy 59 Very rare (<4-1%)
17 reduced tendon reflexes 59 Very frequent (99-80%)
18 waddling gait 59 Frequent (79-30%)
19 elbow flexion contracture 59 Occasional (29-5%)
20 emg: myopathic abnormalities 59 Frequent (79-30%)
21 scapular winging 59 Occasional (29-5%)
22 type 1 muscle fiber atrophy 59 Frequent (79-30%)
23 motor delay 59 Frequent (79-30%)
24 congenital hip dislocation 59 Occasional (29-5%)
25 joint laxity 59 Frequent (79-30%)
26 talipes equinovarus 59 Occasional (29-5%)
27 fatigable weakness of bulbar muscles 59 Frequent (79-30%)
28 polyhydramnios 59 Occasional (29-5%)
29 long face 59 Frequent (79-30%)
30 decreased fetal movement 59 Frequent (79-30%)
31 tented upper lip vermilion 59 Frequent (79-30%)
32 hip contracture 59 Frequent (79-30%)
33 mildly elevated creatine phosphokinase 59 Frequent (79-30%)
34 weak cry 59 Frequent (79-30%)
35 ophthalmoplegia 59 Occasional (29-5%)
36 pulmonary hypoplasia 59 Occasional (29-5%)
37 reduced vital capacity 59 Frequent (79-30%)
38 kyphoscoliosis 59 Occasional (29-5%)
39 ankle contracture 59 Frequent (79-30%)
40 calf muscle hypertrophy 59 Occasional (29-5%)
41 poor suck 59 Frequent (79-30%)
42 knee flexion contracture 59 Occasional (29-5%)
43 flexion contracture of finger 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ACTA1 CFL2 DMD GALC HACD1 ITGA7
2 behavior/neurological MP:0005386 10.13 ACTA1 CFL2 DMD DYSF EMD GALC
3 homeostasis/metabolism MP:0005376 10.1 ACTA1 DMD DYSF EMD GALC HACD1
4 cardiovascular system MP:0005385 10.06 DMD EMD GALC ITGA7 LMNA MYH7
5 mortality/aging MP:0010768 9.93 ACTA1 CFL2 DMD GALC ITGA7 LMNA
6 muscle MP:0005369 9.83 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

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

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

Genetic Tests for Congenital Fiber-Type Disproportion

Genetic tests related to Congenital Fiber-Type Disproportion:

# Genetic test Affiliating Genes
1 Congenital Myopathy with Fiber Type Disproportion 29 ACTA1 MYH7 RYR1 SELENON TPM2 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

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

41
Heart, Eye, Skeletal Muscle, Tongue

Publications for Congenital Fiber-Type Disproportion

Articles related to Congenital Fiber-Type Disproportion:

(show all 46)
# 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 )
2016
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
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
9
Congenital fiber-type disproportion. ( 22172422 )
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
[An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. ( 15960177 )
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
A novel X-linked form of congenital fiber-type disproportion. ( 16173074 )
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
[Anesthetic management of a child with dilated cardiomyopathy associated with congenital fiber-type disproportion]. ( 11995354 )
2002
25
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. ( 10828713 )
2000
26
Congenital fiber type disproportion: severe form with marked improvement. ( 10513694 )
1999
27
Cardiac manifestations of congenital fiber-type disproportion myopathy. ( 10073429 )
1999
28
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
29
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. ( 9343958 )
1997
30
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. ( 9484111 )
1997
31
Association of Krabbe leukodystrophy and congenital fiber type disproportion. ( 8858709 )
1996
32
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. ( 8745394 )
1996
33
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. ( 1293983 )
1992
34
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. ( 1524518 )
1992
35
[Congenital fiber-type disproportion: analysis of a series of 11 cases]. ( 1790004 )
1991
36
Congenital fiber type disproportion: report of one case. ( 2284944 )
1990
37
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. ( 2240465 )
1990
38
Congenital fiber type disproportion myopathy in Lowe syndrome. ( 2604802 )
1989
39
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. ( 3342545 )
1988
40
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. ( 2972157 )
1988
41
Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. ( 3799921 )
1986
42
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. ( 3978981 )
1985
43
Congenital fiber type disproportion with fatal outcome: a case report. ( 7341555 )
1981
44
Ophthalmoplegia and ptosis in congenital fiber type disproportion. ( 7264853 )
1981
45
Clinical variability in congenital fiber type disproportion. ( 7381515 )
1980
46
Congenital fiber type disproportion in identical twins. ( 569460 )
1977

Variations for Congenital Fiber-Type Disproportion

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show top 50) (show all 298)
# Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
2 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh37 Chromosome 1, 26135246: 26135246
3 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
4 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh38 Chromosome 1, 25809753: 25809753
5 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh37 Chromosome 1, 154140414: 154140414
6 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh38 Chromosome 1, 154167938: 154167938
7 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh37 Chromosome 1, 154140417: 154140417
8 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh38 Chromosome 1, 154167941: 154167941
9 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
10 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh38 Chromosome 1, 154172971: 154172971
11 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
12 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh38 Chromosome 1, 154176194: 154176194
13 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
14 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
15 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
16 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
17 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
18 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
19 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
20 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh38 Chromosome 1, 229431830: 229431830
21 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
22 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh38 Chromosome 1, 229432134: 229432134
23 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
24 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh38 Chromosome 1, 229431633: 229431633
25 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
26 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
27 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
28 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh38 Chromosome 14, 23412855: 23412855
29 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh37 Chromosome 19, 39010039: 39010039
30 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh38 Chromosome 19, 38519399: 38519399
31 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
32 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
33 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
34 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh38 Chromosome 19, 38566953: 38566953
35 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
36 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh38 Chromosome 19, 38485988: 38485988
37 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
38 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh38 Chromosome 19, 38490709: 38490709
39 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
40 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh38 Chromosome 19, 38446706: 38446706
41 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh37 Chromosome 19, 39001206: 39001206
42 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh38 Chromosome 19, 38510566: 38510566
43 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh37 Chromosome 19, 39008291: 39008291
44 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh38 Chromosome 19, 38517651: 38517651
45 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh37 Chromosome 1, 229568614: 229568614
46 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh38 Chromosome 1, 229432867: 229432867
47 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh37 Chromosome 1, 229568847: 229568847
48 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh38 Chromosome 1, 229433100: 229433100
49 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh37 Chromosome 1, 229567928: 229567928
50 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh38 Chromosome 1, 229432181: 229432181

Expression for Congenital Fiber-Type Disproportion

Search GEO for disease gene expression data for Congenital Fiber-Type Disproportion.

Pathways for Congenital Fiber-Type Disproportion

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

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 ACTA1 CFL2 ITGA7 MYH7 MYL2
2
Show member pathways
12.72 ACTA1 CFL2 ITGA7 MAP3K20 MYH7 MYL2
3
Show member pathways
12.49 DMD DYSF MYL2 RYR1 TNNI2 TNNT3
4
Show member pathways
12.43 ACTA1 CFL2 ITGA7 MYH7 MYL2
5
Show member pathways
12.17 ACTA1 DMD EMD ITGA7 LMNA
6
Show member pathways
11.98 ACTA1 CFL2 ITGA7 MAP3K20 MYH7 MYL2
7
Show member pathways
11.8 DMD EMD ITGA7 LMNA MYH7 MYL2
8 11.51 MYH7 MYL2 TPM2 TPM3
9 11.2 ACTA1 CFL2 ITGA7 MYH7 MYL2
10 11.17 DYSF TPM2 TPM3
11 11.02 ACTA1 DMD MYL2 TNNI2 TNNT3 TPM2
12 10.87 MYH7 MYL2
13 10.77 ACTA1 DMD

GO Terms for Congenital Fiber-Type Disproportion

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.63 DMD DYSF RYR1
2 actin filament GO:0005884 9.61 ACTA1 TPM2 TPM3
3 sarcomere GO:0030017 9.54 ACTA1 MYH7 MYL2
4 stress fiber GO:0001725 9.5 ACTA1 MYH7 TPM3
5 I band GO:0031674 9.48 CFL2 RYR1
6 myofibril GO:0030016 9.43 DMD MYH7 MYL2
7 troponin complex GO:0005861 9.4 TNNI2 TNNT3
8 Z disc GO:0030018 9.26 CFL2 DMD MYH7 RYR1
9 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
10 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 18)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.7 CFL2 TPM2 TPM3
2 muscle organ development GO:0007517 9.69 DMD EMD ITGA7
3 muscle contraction GO:0006936 9.61 ACTA1 DYSF EMD MYH7 RYR1 TNNI2
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.58 MYH7 MYL2
5 skeletal muscle contraction GO:0003009 9.58 MYH7 TNNI2 TNNT3
6 muscle cell cellular homeostasis GO:0046716 9.57 CFL2 DMD
7 regulation of the force of heart contraction GO:0002026 9.56 MYH7 MYL2
8 regulation of muscle contraction GO:0006937 9.55 TNNI2 TNNT3
9 cardiac muscle contraction GO:0060048 9.55 DMD MYH7 MYL2 TNNI2 TNNT3
10 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.54 DMD SELENON
11 skeletal muscle fiber development GO:0048741 9.54 ACTA1 RYR1 SELENON
12 skeletal muscle tissue regeneration GO:0043403 9.5 DMD DYSF SELENON
13 cellular response to caffeine GO:0071313 9.49 RYR1 SELENON
14 regulation of ATPase activity GO:0043462 9.48 TNNT3 TPM2
15 regulation of striated muscle contraction GO:0006942 9.46 MYL2 TNNT3
16 mitotic nuclear envelope reassembly GO:0007084 9.43 EMD LMNA
17 muscle fiber development GO:0048747 9.43 DMD DYSF MYL2
18 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 calcium ion binding GO:0005509 9.72 DYSF MYL2 RYR1 SELENON TNNT3
2 actin filament binding GO:0051015 9.46 CFL2 MYH7 TPM2 TPM3
3 myosin binding GO:0017022 9.37 ACTA1 DMD
4 actin binding GO:0003779 9.17 DMD EMD MYH7 TNNI2 TNNT3 TPM2
5 structural constituent of muscle GO:0008307 9.13 DMD MYL2 TPM2
6 protein binding GO:0005515 10.13 ACTA1 CFL2 DMD DYSF EMD ITGA7

Sources for Congenital Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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