CFTD
MCID: CNG046
MIFTS: 53

Congenital Fiber-Type Disproportion (CFTD)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Fiber-Type Disproportion

MalaCards integrated aliases for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 12 43 6 15
Congenital Fiber Type Disproportion 73 20 36 54
Congenital Myopathy with Fiber Type Disproportion 43 29 6
Cftdm 20 43 58
Congenital Fiber-Type Disproportion Myopathy 20 58
Cftd 12 43
Myopathy, Congenital with Fiber-Type Disproportion 20
Fiber-Type Disproportion Myopathy, Congenital 20

Characteristics:

Orphanet epidemiological data:

58
congenital fiber-type disproportion myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080102
KEGG 36 H00701
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 71 C0546264
Orphanet 58 ORPHA2020

Summaries for Congenital Fiber-Type Disproportion

MedlinePlus Genetics : 43 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.Individuals with congenital fiber-type disproportion 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).The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.

MalaCards based summary : Congenital Fiber-Type Disproportion, also known as congenital fiber type disproportion, is related to myopathy, congenital, with fiber-type disproportion and batten-turner congenital myopathy. 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, eye and bone, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.

GARD : 20 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.

KEGG : 36 Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings, in addition to a clinical presentation typical of congenital myopathies. CFTD is a genetically heterogenous condition with X-linked, autosomal dominant, and autosomal recessive inheritance patterns. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases, and recently mutations in the TPM3 gene were also found to cause CFTD.

Wikipedia : 73 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 135)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 33.3 TPM3 SELENON RYR1 MYH7 MHRT HACD1
2 batten-turner congenital myopathy 32.5 TPM3 TPM2 SELENON RYR1 NEB MYH7
3 nemaline myopathy 31.4 TPM3 TPM2 NEB CFL2 ACTA1
4 cap myopathy 31.3 TPM3 TPM2 ACTA1
5 intermediate congenital nemaline myopathy 31.2 TPM3 NEB ACTA1
6 respiratory failure 31.2 SELENON RYR1 MYH7 DMD ACTA1
7 myopathy 31.1 TPM3 TPM2 SELENON RYR1 NEB MYL2
8 childhood-onset nemaline myopathy 31.1 TPM3 TPM2 NEB KBTBD13 ACTA1
9 atrial standstill 1 31.1 MYL2 MYH7 MHRT LMNA EMD DMD
10 distal arthrogryposis 31.0 TPM3 TPM2 RYR1 NEB ACTA1
11 dilated cardiomyopathy 30.9 TPM3 TPM2 MYL2 MYH7 MHRT LMNA
12 neuromuscular disease 30.9 SELENON RYR1 NEB MYH7 MHRT LMNA
13 muscular dystrophy 30.9 SELENON RYR1 NEB MYH7 LMNA ITGA7
14 nemaline myopathy 3 30.9 NEB KBTBD13 ACTA1
15 hyaline body myopathy 30.8 SELENON NEB MYH7 ACTA1
16 emery-dreifuss muscular dystrophy 30.8 LMNA EMD DYSF DMD
17 emery-dreifuss muscular dystrophy 2, autosomal dominant 30.8 SELENON LMNA EMD DYSF DMD
18 malignant hyperthermia 30.8 SELENON RYR1 MYH7 KBTBD13 DMD
19 muscular disease 30.7 RYR1 NEB MYH7 LMNA EMD DYSF
20 rigid spine muscular dystrophy 1 30.7 SELENON RYR1 MYH7 LMNA EMD DYSF
21 centronuclear myopathy 30.5 SELENON RYR1 NEB MAP3K20 KBTBD13 HACD1
22 minicore myopathy with external ophthalmoplegia 11.3
23 myopathy, congenital, with fiber-type disproportion, x-linked 11.3
24 myopathy, centronuclear, 6, with fiber-type disproportion 11.3
25 qazi markouizos syndrome 11.3
26 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.0
27 hypotonia 10.7
28 rigid spine muscular dystrophy 10.5 SELENON LMNA ACTA1
29 congenital myopathy with cores 10.5 RYR1 ACTA1
30 localized lipodystrophy 10.5 DYSF DMD
31 emerinopathy 10.5 LMNA EMD
32 crab allergy 10.5 TPM3 TPM2
33 atrioventricular block 10.5 MYH7 MHRT LMNA
34 skeletal muscle disease 10.5 RYR1 CFL2
35 crustacean allergy 10.5 TPM3 TPM2
36 snail allergy 10.5 TPM3 TPM2
37 congenital muscular dystrophy-dystroglycanopathy type a10 10.5 SELENON KBTBD13
38 x-linked emery-dreifuss muscular dystrophy 10.5 LMNA EMD
39 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 NEB DMD
40 central core disease of muscle 10.5 SELENON RYR1 NEB
41 autosomal recessive limb-girdle muscular dystrophy 10.5 LMNA DYSF DMD
42 scapuloperoneal myopathy 10.5 MYH7 MHRT ACTA1
43 autosomal recessive limb-girdle muscular dystrophy type 2a 10.5 LMNA DYSF DMD
44 melon allergy 10.5 TPM3 TPM2
45 foot drop 10.5 NEB DYSF ACTA1
46 congenital muscular dystrophy-dystroglycanopathy a14 10.5 SELENON KBTBD13
47 shrimp allergy 10.5 TPM3 TPM2
48 central core myopathy 10.5 SELENON RYR1 NEB
49 autosomal recessive limb-girdle muscular dystrophy type 2d 10.5 LMNA DYSF DMD
50 muscular dystrophy, limb-girdle, autosomal recessive 7 10.5 DYSF DMD

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:

58 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Very rare (<4-1%)
2 failure to thrive 58 Frequent (79-30%)
3 ptosis 58 Occasional (29-5%)
4 high palate 58 Frequent (79-30%)
5 muscular hypotonia 58 Very frequent (99-80%)
6 hyperlordosis 58 Occasional (29-5%)
7 recurrent respiratory infections 58 Frequent (79-30%)
8 short stature 58 Occasional (29-5%)
9 myopathy 58 Very frequent (99-80%)
10 cryptorchidism 58 Very rare (<4-1%)
11 micrognathia 58 Occasional (29-5%)
12 pectus excavatum 58 Frequent (79-30%)
13 dilated cardiomyopathy 58 Very rare (<4-1%)
14 reduced tendon reflexes 58 Very frequent (99-80%)
15 waddling gait 58 Frequent (79-30%)
16 elbow flexion contracture 58 Occasional (29-5%)
17 emg: myopathic abnormalities 58 Frequent (79-30%)
18 scapular winging 58 Occasional (29-5%)
19 type 1 muscle fiber atrophy 58 Frequent (79-30%)
20 respiratory insufficiency due to muscle weakness 58 Frequent (79-30%)
21 motor delay 58 Frequent (79-30%)
22 congenital hip dislocation 58 Occasional (29-5%)
23 joint laxity 58 Frequent (79-30%)
24 talipes equinovarus 58 Occasional (29-5%)
25 kyphoscoliosis 58 Occasional (29-5%)
26 ophthalmoplegia 58 Occasional (29-5%)
27 polyhydramnios 58 Occasional (29-5%)
28 long face 58 Frequent (79-30%)
29 decreased fetal movement 58 Frequent (79-30%)
30 hip contracture 58 Frequent (79-30%)
31 tented upper lip vermilion 58 Frequent (79-30%)
32 feeding difficulties 58 Frequent (79-30%)
33 ankle flexion contracture 58 Frequent (79-30%)
34 weak cry 58 Frequent (79-30%)
35 pulmonary hypoplasia 58 Occasional (29-5%)
36 generalized muscle weakness 58 Very frequent (99-80%)
37 poor suck 58 Frequent (79-30%)
38 reduced vital capacity 58 Frequent (79-30%)
39 mildly elevated creatine kinase 58 Frequent (79-30%)
40 fatigable weakness of bulbar muscles 58 Frequent (79-30%)
41 knee flexion contracture 58 Occasional (29-5%)
42 calf muscle hypertrophy 58 Occasional (29-5%)
43 flexion contracture of finger 58 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 10.17 ACTA1 CFL2 DMD GALC HACD1 ITGA7
2 homeostasis/metabolism MP:0005376 10.13 ACTA1 DMD DYSF EMD GALC HACD1
3 mortality/aging MP:0010768 9.97 ACTA1 CFL2 DMD GALC ITGA7 LMNA
4 muscle MP:0005369 9.89 ACTA1 CFL2 DMD DYSF EMD GALC
5 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 Analysis of Neuromuscular Disease Recruiting NCT00272883

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:

40
Skeletal Muscle, Eye, Bone, Heart, Brain

Publications for Congenital Fiber-Type Disproportion

Articles related to Congenital Fiber-Type Disproportion:

(show top 50) (show all 144)
# Title Authors PMID Year
1
The pathogenesis of ACTA1-related congenital fiber type disproportion. 54 6 61
17387733 2007
2
Actin mutations are one cause of congenital fibre type disproportion. 6 61 54
15468086 2004
3
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 6 61
24692096 2014
4
Congenital fiber type disproportion myopathy caused by LMNA mutations. 61 6
24642510 2014
5
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 6 61
24507666 2014
6
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 61 6
22749829 2012
7
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 6 61
19953533 2010
8
A TPM3 mutation causing cap myopathy. 6 61
19553118 2009
9
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 61 6
17951086 2008
10
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 6 61
18300303 2008
11
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 6 61
16365872 2006
12
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
13
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 6
26307083 2015
14
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 6
23886664 2013
15
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 6
24095155 2013
16
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 6
23394784 2013
17
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 6
22798622 2012
18
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. 6
21357678 2011
19
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 6
20554445 2010
20
TPM3 mutation in one of the original cases of cap disease. 6
19487656 2009
21
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
22
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 6
15668457 2005
23
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. 6
12467750 2002
24
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. 6
12192640 2002
25
"Cap disease"--a failure in the correct muscle fibre formation. 6
12163190 2002
26
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
27
Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report. 61
33728321 2021
28
L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. 61
33435938 2021
29
Effects of myopathy-causing mutations R91P and R245G in the TPM3 gene on structural and functional properties of slow skeletal muscle tropomyosin. 61
33307294 2021
30
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. 61
32499372 2020
31
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases. 61
31866162 2020
32
KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate. 61
31908664 2019
33
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. 61
31044239 2019
34
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. 61
31127036 2019
35
Pregnancy and Delivery in Women With Congenital Myopathies. 61
31060722 2019
36
Myopathology of Congenital Myopathies: Bridging the Old and the New. 61
31060726 2019
37
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin. 61
29338614 2019
38
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies. 61
30544720 2018
39
Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report. 61
28744779 2018
40
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. 61
30406384 2018
41
An adult with a rare form of congenital fiber type disproportion. 61
28881016 2018
42
Tropomyosin Must Interact Weakly with Actin to Effectively Regulate Thin Filament Function. 61
29211998 2017
43
Congenital fiber-type disproportion presenting as ventricular fibrillation. 61
28786238 2017
44
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. 61
28927399 2017
45
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 61
28540413 2017
46
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 61
28357410 2017
47
An Overview of Congenital Myopathies. 61
27922501 2016
48
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 61
27357428 2016
49
Reverse fiber type disproportion: A distinct metabolic myopathy. 61
26600317 2016
50
Congenital fiber type disproportion. 61
26526626 2016

Variations for Congenital Fiber-Type Disproportion

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show top 50) (show all 345)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RYR1 NM_000540.3(RYR1):c.1675dup (p.Ile559fs) Duplication Pathogenic 870617 GRCh37: 19:38946274-38946275
GRCh38: 19:38455634-38455635
2 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
3 TPM3 NM_152263.4(TPM3):c.298C>A (p.Leu100Met) SNV Pathogenic 12452 rs121964853 GRCh37: 1:154148670-154148670
GRCh38: 1:154176194-154176194
4 TPM3 NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) SNV Pathogenic 12453 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
5 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
6 ACTA1 NM_001100.3(ACTA1):c.881A>T (p.Asp294Val) SNV Pathogenic 18289 rs121909529 GRCh37: 1:229567577-229567577
GRCh38: 1:229431830-229431830
7 ACTA1 NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro) SNV Pathogenic 18290 rs121909530 GRCh37: 1:229567881-229567881
GRCh38: 1:229432134-229432134
8 ACTA1 NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser) SNV Pathogenic 18291 rs121909531 GRCh37: 1:229567380-229567380
GRCh38: 1:229431633-229431633
9 MYH7 NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) SNV Pathogenic 42097 rs367543053 GRCh37: 14:23882064-23882064
GRCh38: 14:23412855-23412855
10 RYR1 NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) SNV Pathogenic 42098 rs367543058 GRCh37: 19:39010039-39010039
GRCh38: 19:38519399-38519399
11 RYR1 NM_000540.2(RYR1):c.1205T>C (p.Met402Thr) SNV Pathogenic 42099 rs118192117 GRCh37: 19:38942486-38942486
GRCh38: 19:38451846-38451846
12 RYR1 NM_000540.2(RYR1):c.13480G>T (p.Glu4494Ter) SNV Pathogenic 42100 rs143849895 GRCh37: 19:39057593-39057593
GRCh38: 19:38566953-38566953
13 RYR1 NM_000540.2(RYR1):c.5333C>A (p.Ser1778Ter) SNV Pathogenic 42101 rs367543055 GRCh37: 19:38976628-38976628
GRCh38: 19:38485988-38485988
14 RYR1 NM_000540.2(RYR1):c.6104A>T (p.His2035Leu) SNV Pathogenic 42102 rs367543056 GRCh37: 19:38981349-38981349
GRCh38: 19:38490709-38490709
15 RYR1 NM_000540.2(RYR1):c.738T>G (p.Tyr246Ter) SNV Pathogenic 42103 rs367543054 GRCh37: 19:38937346-38937346
GRCh38: 19:38446706-38446706
16 RYR1 NM_000540.2(RYR1):c.9000+1G>T SNV Pathogenic 42104 rs111364670 GRCh37: 19:39001206-39001206
GRCh38: 19:38510566-38510566
17 ACTA1 NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp) SNV Pathogenic 42106 rs367543049 GRCh37: 1:229568614-229568614
GRCh38: 1:229432867-229432867
18 ACTA1 NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) SNV Pathogenic 42107 rs367543048 GRCh37: 1:229568847-229568847
GRCh38: 1:229433100-229433100
19 ACTA1 NM_001100.3(ACTA1):c.621G>C (p.Glu207Asp) SNV Pathogenic 42108 rs367543050 GRCh37: 1:229567928-229567928
GRCh38: 1:229432181-229432181
20 ACTA1 NM_001100.3(ACTA1):c.727G>A (p.Glu243Lys) SNV Pathogenic 42109 rs367543051 GRCh37: 1:229567822-229567822
GRCh38: 1:229432075-229432075
21 TPM3 NM_152263.4(TPM3):c.11C>T (p.Ala4Val) SNV Pathogenic 42113 rs199474711 GRCh37: 1:154164484-154164484
GRCh38: 1:154192008-154192008
22 TPM3 NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) SNV Pathogenic 42114 rs199474713 GRCh37: 1:154148696-154148696
GRCh38: 1:154176220-154176220
23 TPM3 NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) SNV Pathogenic 42115 rs199474715 GRCh37: 1:154145445-154145445
GRCh38: 1:154172969-154172969
24 TPM3 NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) SNV Pathogenic 42116 rs199474717 GRCh37: 1:154142930-154142930
GRCh38: 1:154170454-154170454
25 TPM3 NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) SNV Pathogenic 42117 rs199474718 GRCh37: 1:154142918-154142918
GRCh38: 1:154170442-154170442
26 SELENON NM_020451.3(SELENON):c.-11_81del (p.Met1fs) Deletion Pathogenic 373075 rs1557813850 GRCh37: 1:26126703-26126794
GRCh38: 1:25800212-25800303
27 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
28 TPM3 NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) SNV Pathogenic 462142 rs1553248515 GRCh37: 1:154142893-154142893
GRCh38: 1:154170417-154170417
29 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
30 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
31 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
32 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 GRCh37: 19:39075629-39075629
GRCh38: 19:38584989-38584989
33 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 GRCh37: 19:38990310-38990310
GRCh38: 19:38499670-38499670
34 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 GRCh37: 19:39013756-39013756
GRCh38: 19:38523116-38523116
35 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 GRCh37: 19:39013851-39013851
GRCh38: 19:38523211-38523211
36 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Pathogenic 161361 rs377178986 GRCh37: 19:39034060-39034060
GRCh38: 19:38543420-38543420
37 ACTA1 NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) SNV Pathogenic 807361 rs1558081664 GRCh37: 1:229567867-229567867
GRCh38: 1:229432120-229432120
38 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) SNV Pathogenic 12989 rs118192174 GRCh37: 19:38990601-38990601
GRCh38: 19:38499961-38499961
39 RYR1 NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys) SNV Pathogenic 374164 rs1057518940 GRCh37: 19:38990358-38990358
GRCh38: 19:38499718-38499718
40 SELENON NM_020451.3(SELENON):c.713dup (p.Asn238fs) Duplication Pathogenic 4494 rs368104077 GRCh37: 1:26135244-26135245
GRCh38: 1:25808753-25808754
41 RYR1 NM_000540.2(RYR1):c.9978C>A (p.Asn3326Lys) SNV Pathogenic 42105 rs367543057 GRCh37: 19:39008291-39008291
GRCh38: 19:38517651-38517651
42 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) SNV Pathogenic 4496 rs121908188 GRCh37: 1:26136244-26136244
GRCh38: 1:25809753-25809753
43 MYH7 , MHRT NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) Microsatellite Pathogenic 42096 rs367543052 GRCh37: 14:23884685-23884687
GRCh38: 14:23415476-23415478
44 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
45 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 GRCh37: 14:23898488-23898488
GRCh38: 14:23429279-23429279
46 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 GRCh37: 14:23893268-23893268
GRCh38: 14:23424059-23424059
47 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 GRCh37: 14:23893321-23893321
GRCh38: 14:23424112-23424112
48 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
49 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) SNV Pathogenic/Likely pathogenic 4496 rs121908188 GRCh37: 1:26136244-26136244
GRCh38: 1:25809753-25809753
50 RYR1 NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) SNV Likely pathogenic 65941 rs118192135 GRCh37: 19:39062825-39062825
GRCh38: 19:38572185-38572185

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:

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 MYL2 MYH7 ITGA7 CFL2 ACTA1
2
Show member pathways
12.67 MYL2 MYH7 MAP3K20 ITGA7 CFL2 ACTA1
3
Show member pathways
12.45 RYR1 LMNA ITGA7 DMD ACTA1
4
Show member pathways
12.43 TPM3 TPM2 RYR1 NEB MYL2 DYSF
5
Show member pathways
12.35 MYL2 MYH7 CFL2 ACTA1
6
Show member pathways
12.31 TPM3 TPM2 MYL2 MYH7
7 11.92 LMNA ITGA7 EMD DMD
8 11.56 TPM3 TPM2 MYL2 MYH7
9
Show member pathways
11.49 TPM3 TPM2 MYL2 MYH7 LMNA ITGA7
10 11.29 TPM3 TPM2 NEB MYL2 DMD ACTA1
11 11.2 MYL2 MYH7 ITGA7 CFL2 ACTA1
12 11.1 TPM3 TPM2 DYSF
13 10.88 MYL2 MYH7
14 10.8 DMD ACTA1

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 cytoskeleton GO:0005856 9.98 TPM3 TPM2 NEB MYL2 DMD CFL2
2 sarcolemma GO:0042383 9.63 RYR1 DYSF DMD
3 actin filament GO:0005884 9.58 TPM3 TPM2 ACTA1
4 sarcomere GO:0030017 9.56 NEB MYL2 MYH7 ACTA1
5 stress fiber GO:0001725 9.54 TPM3 MYH7 ACTA1
6 I band GO:0031674 9.48 RYR1 CFL2
7 myofibril GO:0030016 9.46 NEB MYL2 MYH7 DMD
8 Z disc GO:0030018 9.35 RYR1 NEB MYH7 DMD CFL2
9 muscle thin filament tropomyosin GO:0005862 9.32 TPM3 TPM2
10 actin cytoskeleton GO:0015629 9.17 TPM3 TPM2 NEB MYL2 DMD CFL2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.67 TPM3 TPM2 KBTBD13 CFL2
2 muscle organ development GO:0007517 9.65 NEB LMNA ITGA7 EMD DMD
3 muscle contraction GO:0006936 9.5 TPM3 TPM2 RYR1 MYH7 EMD DYSF
4 muscle cell cellular homeostasis GO:0046716 9.49 DMD CFL2
5 regulation of the force of heart contraction GO:0002026 9.48 MYL2 MYH7
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.46 SELENON DMD
7 skeletal muscle fiber development GO:0048741 9.46 SKI SELENON RYR1 ACTA1
8 muscle fiber development GO:0048747 9.43 NEB DMD
9 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
10 regulation of the force of skeletal muscle contraction GO:0014728 9.32 MYH7 KBTBD13
11 muscle filament sliding GO:0030049 9.17 TPM3 TPM2 NEB MYL2 MYH7 DMD

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.5 TPM3 TPM2 NEB MYH7 EMD DMD
2 structural constituent of muscle GO:0008307 9.46 TPM2 NEB MYL2 DMD
3 actin filament binding GO:0051015 9.17 TPM3 TPM2 NEB MYH7 KBTBD13 DMD

Sources for Congenital Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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