MCID: CNG046
MIFTS: 51

Congenital Fiber-Type Disproportion

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 26 6 15
Congenital Fiber Type Disproportion 77 54 38 56
Congenital Myopathy with Fiber Type Disproportion 26 30 6
Cftdm 54 26 60
Congenital Fiber-Type Disproportion Myopathy 54 60
Myopathy, Congenital, with Fiber Type Disproportion 41
Myopathy, Congenital with Fiber-Type Disproportion 54
Fiber-Type Disproportion Myopathy, Congenital 54
Cftd 26

Characteristics:

Orphanet epidemiological data:

60
congenital fiber-type disproportion myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080102
KEGG 38 H00701
ICD10 34 G71.2
ICD10 via Orphanet 35 G71.2
UMLS via Orphanet 75 C0546264
Orphanet 60 ORPHA2020

Summaries for Congenital Fiber-Type Disproportion

Genetics Home Reference : 26 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 : 54 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 : 77 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

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 76)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 33.6 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
2 myopathy, congenital 31.3 ACTA1 DMD DYSF HACD1 ITGA7 MYH7
3 muscle disorders 31.1 RYR1 SELENON TPM3
4 atrial standstill 1 30.4 DMD EMD LMNA MYH7 MYL2
5 rigid spine muscular dystrophy 1 30.3 ACTA1 DMD DYSF MYH7 RYR1 SELENON
6 myopathy 30.1 ACTA1 CFL2 DYSF EMD MYH7 NEB
7 dilated cardiomyopathy 30.1 DMD EMD LMNA MYH7 MYL2
8 nemaline myopathy 30.1 ACTA1 CFL2 NEB TPM2 TPM3
9 myopathy, congenital, with fiber-type disproportion, x-linked 12.7
10 minicore myopathy with external ophthalmoplegia 11.4
11 qazi markouizos syndrome 11.4
12 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.1
13 localized lipodystrophy 10.4 DMD DYSF
14 emerinopathy 10.4 EMD LMNA
15 multiminicore disease 10.4 RYR1 SELENON
16 cardiomyopathy, dilated, 1h 10.4 EMD LMNA
17 central core myopathy 10.4 MYH7 RYR1 SELENON
18 cap myopathy 10.4 ACTA1 TPM2 TPM3
19 autosomal recessive limb-girdle muscular dystrophy type 2c 10.4 DMD DYSF
20 cardiac conduction defect 10.4 LMNA MYH7 RYR1
21 myopathy, proximal, and ophthalmoplegia 10.4 EMD LMNA RYR1
22 myopathy, myofibrillar, 2 10.3 ACTA1 DMD MYH7
23 myopathy, tubular aggregate, 1 10.3 ACTA1 EMD RYR1
24 emery-dreifuss muscular dystrophy 1, x-linked 10.3 EMD LMNA
25 severe congenital nemaline myopathy 10.3 ACTA1 NEB
26 cardiomyopathy, dilated, 1a 10.3 DMD EMD LMNA
27 intrinsic cardiomyopathy 10.3 DMD LMNA MYH7
28 miyoshi muscular dystrophy 10.3 DMD DYSF MYH7
29 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 DMD DYSF
30 foot drop 10.3 ACTA1 NEB
31 myopathy of extraocular muscle 10.3 MYH7 TNNT3
32 intermediate congenital nemaline myopathy 10.3 ACTA1 NEB TPM3
33 autosomal genetic disease 10.3 DMD LMNA RYR1
34 diabetes mellitus, noninsulin-dependent 10.3
35 restrictive cardiomyopathy 10.3 ACTA1 MYH7 MYL2
36 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DMD DYSF
37 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DMD NEB
38 arthrogryposis, distal, type 1a 10.2 RYR1 TPM2
39 bethlem myopathy 1 10.2 DMD DYSF LMNA SELENON
40 central core disease of muscle 10.2 NEB RYR1 SELENON
41 muscular dystrophy, congenital, lmna-related 10.2 DMD EMD LMNA SELENON
42 neuromuscular disease 10.2 DMD EMD LMNA RYR1
43 fissured tongue 10.2 TNNI2 TNNT3
44 reducing body myopathy 10.2 DMD NEB
45 digitotalar dysmorphism 10.2 TNNI2 TNNT3 TPM2
46 muscular dystrophy, congenital merosin-deficient, 1a 10.2 DMD LMNA
47 spondylocarpotarsal synostosis syndrome 10.1 TNNI2 TNNT3 TPM2
48 childhood-onset nemaline myopathy 10.1 ACTA1 NEB TPM2 TPM3
49 arthrogryposis, distal, type 5 10.1 TNNI2 TNNT3 TPM2
50 myopathy, distal, 1 10.1 CFL2 MYH7

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:

60 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 Frequent (79-30%)
2 high palate 60 Frequent (79-30%)
3 ptosis 60 Occasional (29-5%)
4 intellectual disability 60 Very rare (<4-1%)
5 muscular hypotonia 60 Very frequent (99-80%)
6 failure to thrive 60 Frequent (79-30%)
7 hyperlordosis 60 Occasional (29-5%)
8 recurrent respiratory infections 60 Frequent (79-30%)
9 short stature 60 Occasional (29-5%)
10 myopathy 60 Very frequent (99-80%)
11 respiratory insufficiency due to muscle weakness 60 Frequent (79-30%)
12 generalized muscle weakness 60 Very frequent (99-80%)
13 micrognathia 60 Occasional (29-5%)
14 feeding difficulties 60 Frequent (79-30%)
15 cryptorchidism 60 Very rare (<4-1%)
16 dilated cardiomyopathy 60 Very rare (<4-1%)
17 reduced tendon reflexes 60 Very frequent (99-80%)
18 waddling gait 60 Frequent (79-30%)
19 elbow flexion contracture 60 Occasional (29-5%)
20 emg: myopathic abnormalities 60 Frequent (79-30%)
21 scapular winging 60 Occasional (29-5%)
22 type 1 muscle fiber atrophy 60 Frequent (79-30%)
23 motor delay 60 Frequent (79-30%)
24 congenital hip dislocation 60 Occasional (29-5%)
25 joint laxity 60 Frequent (79-30%)
26 talipes equinovarus 60 Occasional (29-5%)
27 kyphoscoliosis 60 Occasional (29-5%)
28 ophthalmoplegia 60 Occasional (29-5%)
29 fatigable weakness of bulbar muscles 60 Frequent (79-30%)
30 polyhydramnios 60 Occasional (29-5%)
31 long face 60 Frequent (79-30%)
32 decreased fetal movement 60 Frequent (79-30%)
33 tented upper lip vermilion 60 Frequent (79-30%)
34 hip contracture 60 Frequent (79-30%)
35 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
36 pulmonary hypoplasia 60 Occasional (29-5%)
37 reduced vital capacity 60 Frequent (79-30%)
38 ankle contracture 60 Frequent (79-30%)
39 calf muscle hypertrophy 60 Occasional (29-5%)
40 weak cry 60 Frequent (79-30%)
41 poor suck 60 Frequent (79-30%)
42 knee flexion contracture 60 Occasional (29-5%)
43 flexion contracture of finger 60 Occasional (29-5%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACTA1 CFL2 DMD DYSF EMD GALC

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ACTA1 CFL2 DMD DYSF EMD GALC
2 growth/size/body region MP:0005378 10.21 ACTA1 CFL2 DMD GALC HACD1 ITGA7
3 homeostasis/metabolism MP:0005376 10.13 ACTA1 DMD DYSF EMD GALC HACD1
4 cardiovascular system MP:0005385 10.06 DMD EMD GALC ITGA7 LMNA MYH7
5 mortality/aging MP:0010768 10 ACTA1 CFL2 DMD GALC ITGA7 LMNA
6 muscle MP:0005369 9.89 ACTA1 CFL2 DMD DYSF EMD GALC
7 limbs/digits/tail MP:0005371 9.73 DMD GALC LMNA MAP3K20 RYR1 TNNT3
8 skeleton MP:0005390 9.32 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 30 ACTA1 MYH7 RYR1 SELENON TPM2 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

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

42
Heart, Eye, Skeletal Muscle, Tongue

Publications for Congenital Fiber-Type Disproportion

Articles related to Congenital Fiber-Type Disproportion:

(show top 50) (show all 56)
# Title Authors Year
1
Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report. ( 28744779 )
2018
2
An adult with a rare form of congenital fiber type disproportion. ( 28881016 )
2018
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
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. ( 24095155 )
2013
8
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. ( 21864970 )
2012
9
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
10
Congenital fiber-type disproportion. ( 22172422 )
2011
11
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
12
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. ( 19953533 )
2010
13
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. ( 20179953 )
2010
14
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. ( 20583297 )
2010
15
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009
16
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). ( 19483656 )
2009
17
TPM3 mutation in one of the original cases of cap disease. ( 19487656 )
2009
18
Mutations in TPM3 are a common cause of congenital fiber type disproportion. ( 18300303 )
2008
19
The pathogenesis of ACTA1-related congenital fiber type disproportion. ( 17387733 )
2007
20
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. ( 17376686 )
2007
21
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. ( 16365872 )
2006
22
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. ( 16941741 )
2006
23
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. ( 15696781 )
2005
24
A novel X-linked form of congenital fiber-type disproportion. ( 16173074 )
2005
25
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. ( 15668457 )
2005
26
[An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. ( 15960177 )
2005
27
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. ( 15269486 )
2004
28
Actin mutations are one cause of congenital fibre type disproportion. ( 15468086 )
2004
29
Congenital fiber type disproportion--30 years on. ( 14575234 )
2003
30
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. ( 12376748 )
2002
31
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. ( 12192640 )
2002
32
"Cap disease"--a failure in the correct muscle fibre formation. ( 12163190 )
2002
33
[Anesthetic management of a child with dilated cardiomyopathy associated with congenital fiber-type disproportion]. ( 11995354 )
2002
34
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. ( 10828713 )
2000
35
Cardiac manifestations of congenital fiber-type disproportion myopathy. ( 10073429 )
1999
36
Congenital fiber type disproportion: severe form with marked improvement. ( 10513694 )
1999
37
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
38
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. ( 9343958 )
1997
39
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. ( 9484111 )
1997
40
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. ( 8745394 )
1996
41
Association of Krabbe leukodystrophy and congenital fiber type disproportion. ( 8858709 )
1996
42
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. ( 1293983 )
1992
43
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. ( 1524518 )
1992
44
[Congenital fiber-type disproportion: analysis of a series of 11 cases]. ( 1790004 )
1991
45
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. ( 2240465 )
1990
46
Congenital fiber type disproportion: report of one case. ( 2284944 )
1990
47
Congenital fiber type disproportion myopathy in Lowe syndrome. ( 2604802 )
1989
48
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. ( 2972157 )
1988
49
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. ( 3342545 )
1988
50
Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. ( 3799921 )
1986

Variations for Congenital Fiber-Type Disproportion

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show top 50) (show all 370)
# 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_152263.2(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
14 TPM3 NM_152263.2(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 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
18 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh38 Chromosome 19, 38584989: 38584989
19 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
20 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
21 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
22 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
23 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
24 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
25 MYH7 NM_000257.4(MYH7): c.2717A> G (p.Asp906Gly) single nucleotide variant Pathogenic rs267606908 GRCh37 Chromosome 14, 23893321: 23893321
26 MYH7 NM_000257.4(MYH7): c.2717A> G (p.Asp906Gly) single nucleotide variant Pathogenic rs267606908 GRCh38 Chromosome 14, 23424112: 23424112
27 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
28 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh38 Chromosome 1, 229431830: 229431830
29 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
30 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh38 Chromosome 1, 229432134: 229432134
31 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
32 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh38 Chromosome 1, 229431633: 229431633
33 MYH7 NM_000257.4(MYH7): c.3981C> A (p.Asn1327Lys) single nucleotide variant Uncertain significance rs141764279 GRCh37 Chromosome 14, 23887607: 23887607
34 MYH7 NM_000257.4(MYH7): c.3981C> A (p.Asn1327Lys) single nucleotide variant Uncertain significance rs141764279 GRCh38 Chromosome 14, 23418398: 23418398
35 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
36 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
37 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
38 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh38 Chromosome 14, 23412855: 23412855
39 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh37 Chromosome 19, 39010039: 39010039
40 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh38 Chromosome 19, 38519399: 38519399
41 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
42 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
43 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
44 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh38 Chromosome 19, 38566953: 38566953
45 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
46 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh38 Chromosome 19, 38485988: 38485988
47 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
48 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh38 Chromosome 19, 38490709: 38490709
49 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
50 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh38 Chromosome 19, 38446706: 38446706

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:

38
# 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
12.76 ACTA1 CFL2 ITGA7 MYH7 MYL2
2
Show member pathways
12.59 ACTA1 CFL2 ITGA7 MAP3K20 MYH7 MYL2
3
Show member pathways
12.54 DMD DYSF MYL2 NEB RYR1 TNNI2
4
Show member pathways
12.43 ACTA1 CFL2 ITGA7 MYH7 MYL2
5
Show member pathways
12.21 ACTA1 DMD EMD ITGA7 LMNA
6
Show member pathways
12.04 ACTA1 CFL2 ITGA7 MAP3K20 MYH7 MYL2
7
Show member pathways
11.8 DMD EMD ITGA7 LMNA MYH7 MYL2
8 11.56 MYH7 MYL2 TPM2 TPM3
9 11.26 ACTA1 CFL2 ITGA7 MYH7 MYL2
10 11.17 DYSF TPM2 TPM3
11 11.08 ACTA1 DMD MYL2 NEB TNNI2 TNNT3
12 10.85 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.92 ACTA1 CFL2 DMD MYL2 NEB SPTBN4
2 sarcolemma GO:0042383 9.65 DMD DYSF RYR1
3 actin filament GO:0005884 9.63 ACTA1 TPM2 TPM3
4 stress fiber GO:0001725 9.58 ACTA1 MYH7 TPM3
5 sarcomere GO:0030017 9.56 ACTA1 MYH7 MYL2 NEB
6 I band GO:0031674 9.49 CFL2 RYR1
7 myofibril GO:0030016 9.46 DMD MYH7 MYL2 NEB
8 troponin complex GO:0005861 9.43 TNNI2 TNNT3
9 muscle thin filament tropomyosin GO:0005862 9.37 TPM2 TPM3
10 Z disc GO:0030018 9.35 CFL2 DMD MYH7 NEB RYR1
11 actin cytoskeleton GO:0015629 9.1 ACTA1 CFL2 MYL2 NEB TPM2 TPM3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.73 DMD EMD ITGA7 NEB
2 actin filament organization GO:0007015 9.7 CFL2 TPM2 TPM3
3 muscle contraction GO:0006936 9.61 ACTA1 DYSF EMD MYH7 RYR1 TNNI2
4 skeletal muscle contraction GO:0003009 9.58 MYH7 TNNI2 TNNT3
5 muscle cell cellular homeostasis GO:0046716 9.57 CFL2 DMD
6 regulation of the force of heart contraction GO:0002026 9.56 MYH7 MYL2
7 regulation of muscle contraction GO:0006937 9.55 TNNI2 TNNT3
8 cardiac muscle contraction GO:0060048 9.55 DMD MYH7 MYL2 TNNI2 TNNT3
9 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.54 DMD SELENON
10 skeletal muscle fiber development GO:0048741 9.54 ACTA1 RYR1 SELENON
11 regulation of ATPase activity GO:0043462 9.49 TNNT3 TPM2
12 regulation of striated muscle contraction GO:0006942 9.48 MYL2 TNNT3
13 mitotic nuclear envelope reassembly GO:0007084 9.46 EMD LMNA
14 muscle fiber development GO:0048747 9.43 DMD DYSF MYL2
15 skeletal muscle tissue regeneration GO:0043403 9.32 DMD DYSF
16 muscle filament sliding GO:0030049 9.28 ACTA1 DMD MYH7 MYL2 NEB TNNI2
17 cellular response to caffeine GO:0071313 9.21 RYR1

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 9.77 DYSF MYL2 RYR1 SELENON TNNT3
2 actin filament binding GO:0051015 9.55 CFL2 MYH7 NEB TPM2 TPM3
3 structural constituent of cytoskeleton GO:0005200 9.5 ACTA1 DMD SPTBN4
4 structural constituent of muscle GO:0008307 9.26 DMD MYL2 NEB TPM2
5 actin binding GO:0003779 9.23 DMD EMD MYH7 SPTBN4 TNNI2 TNNT3
6 protein binding GO:0005515 10.19 ACTA1 CFL2 DMD DYSF EMD ITGA7

Sources for Congenital Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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