CFTD
MCID: CNG046
MIFTS: 54

Congenital Fiber-Type Disproportion (CFTD)

Categories: Bone diseases, 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 25 6 15
Congenital Fiber Type Disproportion 74 52 36 54
Congenital Myopathy with Fiber Type Disproportion 25 29 6
Cftdm 52 25 58
Congenital Fiber-Type Disproportion Myopathy 52 58
Cftd 12 25
Myopathy, Congenital with Fiber-Type Disproportion 52
Fiber-Type Disproportion Myopathy, Congenital 52

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 72 C0546264
Orphanet 58 ORPHA2020

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. 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 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 skeletal muscle, eye and heart, and related phenotypes are intellectual disability and muscular hypotonia

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.

NIH Rare Diseases : 52 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 : 74 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 140)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 34.6 TPM3 SELENON RYR1 MYH7 HACD1 ACTA1
2 myopathy, congenital 33.2 TPM3 SELENON RYR1 NEB MYH7 MYH6
3 myopathy, centronuclear, 6, with fiber-type disproportion 33.1 MTM1 MAP3K20
4 nemaline myopathy 31.6 TPM3 TPM2 NEB CFL2 ACTA1
5 ptosis 31.5 RYR1 MTM1 MAP3K20 DMD
6 respiratory failure 31.4 SELENON RYR1 MYH7 DMD ACTA1
7 atrial standstill 1 31.3 MYL2 MYH7 MYH6 LMNA EMD DMD
8 cap myopathy 31.2 TPM3 TPM2 ACTA1
9 intermediate congenital nemaline myopathy 31.2 TPM3 NEB ACTA1
10 distal arthrogryposis 31.1 TPM2 RYR1 NEB MYH6 ACTA1
11 childhood-onset nemaline myopathy 31.1 TPM3 TPM2 NEB KBTBD13 ACTA1
12 muscular dystrophy 31.0 SELENON RYR1 NEB MYH7 LMNA ITGA7
13 hyaline body myopathy 31.0 TPM3 SELENON NEB MYH7 MYH6 ACTA1
14 neuromuscular disease 31.0 RYR1 NEB MYH7 MYH6 MTM1 LMNA
15 myopathy 31.0 TPM3 TPM2 SELENON RYR1 NEB MYL2
16 rigid spine muscular dystrophy 1 31.0 SELENON RYR1 MYH7 LMNA DYSF DMD
17 dilated cardiomyopathy 30.9 TPM3 TPM2 MYL2 MYH7 MYH6 MTM1
18 malignant hyperthermia 30.8 SELENON RYR1 MYH7 MYH6 MTM1 KBTBD13
19 muscular disease 30.7 RYR1 NEB MYH7 MYH6 MTM1 LMNA
20 centronuclear myopathy 30.5 TPM2 SELENON RYR1 NEB MTM1 MAP3K20
21 minicore myopathy with external ophthalmoplegia 11.8
22 myopathy, congenital, with fiber-type disproportion, x-linked 11.8
23 qazi markouizos syndrome 11.5
24 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.2
25 rigid spine muscular dystrophy 10.8 SELENON LMNA
26 congenital myopathy with cores 10.7 RYR1 ACTA1
27 localized lipodystrophy 10.7 DYSF DMD
28 emerinopathy 10.7 LMNA EMD
29 reducing body myopathy 10.7 NEB DMD
30 snail allergy 10.7 TPM3 TPM2
31 multiminicore disease 10.7 SELENON RYR1
32 skeletal muscle disease 10.7 RYR1 CFL2
33 hypotonia 10.7
34 autosomal dominant distal myopathy 10.7 MYH7 DMD ACTA1
35 crab allergy 10.7 TPM3 TPM2
36 emery-dreifuss muscular dystrophy 10.7 LMNA EMD DMD
37 foot drop 10.7 NEB ACTA1
38 severe congenital nemaline myopathy 10.7 NEB ACTA1
39 cardioneuromyopathy with hyaline masses and nemaline rods 10.7 NEB DMD
40 first-degree atrioventricular block 10.7 MYH7 LMNA EMD
41 x-linked emery-dreifuss muscular dystrophy 10.7 LMNA EMD
42 crustacean allergy 10.7 TPM3 TPM2
43 central core disease of muscle 10.7 SELENON RYR1 NEB
44 congenital muscular dystrophy-dystroglycanopathy type a10 10.7 SELENON KBTBD13
45 shrimp allergy 10.7 TPM3 TPM2
46 congenital muscular dystrophy-dystroglycanopathy a14 10.7 SELENON KBTBD13
47 autosomal recessive limb-girdle muscular dystrophy type 2a 10.7 LMNA DYSF DMD
48 autosomal recessive limb-girdle muscular dystrophy type 2d 10.7 LMNA DYSF DMD
49 scapuloperoneal syndrome, neurogenic, kaeser type 10.7 SELENON NEB
50 scapuloperoneal myopathy 10.7 MYH7 MYH6 ACTA1

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 muscular hypotonia 58 Very frequent (99-80%)
3 recurrent respiratory infections 58 Frequent (79-30%)
4 short stature 58 Occasional (29-5%)
5 failure to thrive 58 Frequent (79-30%)
6 myopathy 58 Very frequent (99-80%)
7 respiratory insufficiency due to muscle weakness 58 Frequent (79-30%)
8 generalized muscle weakness 58 Very frequent (99-80%)
9 feeding difficulties 58 Frequent (79-30%)
10 hyperlordosis 58 Occasional (29-5%)
11 cryptorchidism 58 Very rare (<4-1%)
12 high palate 58 Frequent (79-30%)
13 micrognathia 58 Occasional (29-5%)
14 ptosis 58 Occasional (29-5%)
15 pectus excavatum 58 Frequent (79-30%)
16 dilated cardiomyopathy 58 Very rare (<4-1%)
17 reduced tendon reflexes 58 Very frequent (99-80%)
18 waddling gait 58 Frequent (79-30%)
19 elbow flexion contracture 58 Occasional (29-5%)
20 emg: myopathic abnormalities 58 Frequent (79-30%)
21 scapular winging 58 Occasional (29-5%)
22 type 1 muscle fiber atrophy 58 Frequent (79-30%)
23 motor delay 58 Frequent (79-30%)
24 congenital hip dislocation 58 Occasional (29-5%)
25 joint laxity 58 Frequent (79-30%)
26 talipes equinovarus 58 Occasional (29-5%)
27 kyphoscoliosis 58 Occasional (29-5%)
28 ophthalmoplegia 58 Occasional (29-5%)
29 polyhydramnios 58 Occasional (29-5%)
30 long face 58 Frequent (79-30%)
31 decreased fetal movement 58 Frequent (79-30%)
32 hip contracture 58 Frequent (79-30%)
33 tented upper lip vermilion 58 Frequent (79-30%)
34 ankle flexion contracture 58 Frequent (79-30%)
35 weak cry 58 Frequent (79-30%)
36 pulmonary hypoplasia 58 Occasional (29-5%)
37 poor suck 58 Frequent (79-30%)
38 reduced vital capacity 58 Frequent (79-30%)
39 mildly elevated creatine phosphokinase 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ACTA1 CFL2 DMD DYSF EMD GALC
2 homeostasis/metabolism MP:0005376 10.27 ACTA1 DMD DYSF EMD GALC HACD1
3 growth/size/body region MP:0005378 10.22 ACTA1 CFL2 DMD GALC HACD1 ITGA7
4 cardiovascular system MP:0005385 10.13 DMD EMD GALC ITGA7 LMNA MTM1
5 mortality/aging MP:0010768 10.1 ACTA1 CFL2 DMD GALC ITGA7 LMNA
6 muscle MP:0005369 10.09 ACTA1 CFL2 DMD DYSF EMD GALC
7 liver/biliary system MP:0005370 9.87 ACTA1 DMD GALC LMNA MTM1 MYH6
8 respiratory system MP:0005388 9.5 DMD LMNA MTM1 MYH6 MYL2 RYR1
9 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, Heart, Brain, Testes

Publications for Congenital Fiber-Type Disproportion

Articles related to Congenital Fiber-Type Disproportion:

(show top 50) (show all 134)
# Title Authors PMID Year
1
The pathogenesis of ACTA1-related congenital fiber type disproportion. 54 61 6
17387733 2007
2
Actin mutations are one cause of congenital fibre type disproportion. 61 54 6
15468086 2004
3
A TPM3 mutation causing cap myopathy. 61 6
19553118 2009
4
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 61 6
18300303 2008
5
Congenital Fiber-Type Disproportion – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301436 2007
6
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 61 6
16365872 2006
7
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 6
24095155 2013
8
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 6
20554445 2010
9
TPM3 mutation in one of the original cases of cap disease. 6
19487656 2009
10
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
11
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 6
15668457 2005
12
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
13
"Cap disease"--a failure in the correct muscle fibre formation. 6
12163190 2002
14
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
15
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice. 61
32499372 2020
16
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases. 61
31866162 2020
17
KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate. 61
31908664 2019
18
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. 61
31044239 2019
19
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. 61
31127036 2019
20
Pregnancy and Delivery in Women With Congenital Myopathies. 61
31060722 2019
21
Myopathology of Congenital Myopathies: Bridging the Old and the New. 61
31060726 2019
22
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin. 61
29338614 2019
23
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
24
Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report. 61
28744779 2018
25
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. 61
30406384 2018
26
An adult with a rare form of congenital fiber type disproportion. 61
28881016 2018
27
Tropomyosin Must Interact Weakly with Actin to Effectively Regulate Thin Filament Function. 61
29211998 2017
28
Congenital fiber-type disproportion presenting as ventricular fibrillation. 61
28786238 2017
29
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. 61
28927399 2017
30
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 61
28540413 2017
31
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 61
28357410 2017
32
An Overview of Congenital Myopathies. 61
27922501 2016
33
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 61
27357428 2016
34
Reverse fiber type disproportion: A distinct metabolic myopathy. 61
26600317 2016
35
Congenital fiber type disproportion. 61
26526626 2016
36
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. 61
25958340 2015
37
Severe congenital actin related myopathy with myofibrillar myopathy features. 61
25913210 2015
38
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies]. 61
25331388 2014
39
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 61
24692096 2014
40
Congenital fiber type disproportion myopathy caused by LMNA mutations. 61
24642510 2014
41
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 61
24507666 2014
42
Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation? 61
23924754 2014
43
Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome. 61
23743156 2013
44
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. 61
23800289 2013
45
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. 61
23478172 2013
46
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. 61
23762716 2013
47
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. 61
23005904 2012
48
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 61
22749829 2012
49
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. 61
21864970 2012
50
Congenital fiber-type disproportion. 61
22172422 2011

Variations for Congenital Fiber-Type Disproportion

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show top 50) (show all 271) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPM3 NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)SNV Pathogenic 462142 rs1553248515 1:154142893-154142893 1:154170417-154170417
2 ACTA1 NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)SNV Pathogenic 807361 1:229567867-229567867 1:229432120-229432120
3 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His)SNV Pathogenic 12450 rs121964852 1:154145447-154145447 1:154172971-154172971
4 TPM3 NM_152263.4(TPM3):c.298C>A (p.Leu100Met)SNV Pathogenic 12452 rs121964853 1:154148670-154148670 1:154176194-154176194
5 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)SNV Pathogenic 12454 rs121964854 1:154145448-154145448 1:154172972-154172972
6 RYR1 NM_000540.2(RYR1):c.1205T>C (p.Met402Thr)SNV Pathogenic 42099 rs118192117 19:38942486-38942486 19:38451846-38451846
7 RYR1 NM_000540.2(RYR1):c.13480G>T (p.Glu4494Ter)SNV Pathogenic 42100 rs143849895 19:39057593-39057593 19:38566953-38566953
8 RYR1 NM_000540.2(RYR1):c.5333C>A (p.Ser1778Ter)SNV Pathogenic 42101 rs367543055 19:38976628-38976628 19:38485988-38485988
9 RYR1 NM_000540.2(RYR1):c.6104A>T (p.His2035Leu)SNV Pathogenic 42102 rs367543056 19:38981349-38981349 19:38490709-38490709
10 RYR1 NM_000540.2(RYR1):c.738T>G (p.Tyr246Ter)SNV Pathogenic 42103 rs367543054 19:38937346-38937346 19:38446706-38446706
11 RYR1 NM_000540.2(RYR1):c.9000+1G>TSNV Pathogenic 42104 rs111364670 19:39001206-39001206 19:38510566-38510566
12 RYR1 NM_000540.2(RYR1):c.9978C>A (p.Asn3326Lys)SNV Pathogenic 42105 rs367543057 19:39008291-39008291 19:38517651-38517651
13 ACTA1 NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp)SNV Pathogenic 42106 rs367543049 1:229568614-229568614 1:229432867-229432867
14 ACTA1 NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys)SNV Pathogenic 42107 rs367543048 1:229568847-229568847 1:229433100-229433100
15 ACTA1 NM_001100.3(ACTA1):c.621G>C (p.Glu207Asp)SNV Pathogenic 42108 rs367543050 1:229567928-229567928 1:229432181-229432181
16 ACTA1 NM_001100.3(ACTA1):c.727G>A (p.Glu243Lys)SNV Pathogenic 42109 rs367543051 1:229567822-229567822 1:229432075-229432075
17 TPM3 NM_152263.4(TPM3):c.11C>T (p.Ala4Val)SNV Pathogenic 42113 rs199474711 1:154164484-154164484 1:154192008-154192008
18 TPM3 NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)SNV Pathogenic 42114 rs199474713 1:154148696-154148696 1:154176220-154176220
19 TPM3 NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)SNV Pathogenic 42115 rs199474715 1:154145445-154145445 1:154172969-154172969
20 TPM3 NM_152263.4(TPM3):c.721G>A (p.Glu241Lys)SNV Pathogenic 42116 rs199474717 1:154142930-154142930 1:154170454-154170454
21 TPM3 NM_152263.4(TPM3):c.733A>G (p.Arg245Gly)SNV Pathogenic 42117 rs199474718 1:154142918-154142918 1:154170442-154170442
22 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
23 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
24 ACTA1 NM_001100.3(ACTA1):c.881A>T (p.Asp294Val)SNV Pathogenic 18289 rs121909529 1:229567577-229567577 1:229431830-229431830
25 ACTA1 NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro)SNV Pathogenic 18290 rs121909530 1:229567881-229567881 1:229432134-229432134
26 ACTA1 NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser)SNV Pathogenic 18291 rs121909531 1:229567380-229567380 1:229431633-229431633
27 MYH7 NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del)short repeat Pathogenic 42096 rs367543052 14:23884685-23884687 14:23415476-23415478
28 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
29 SELENON NM_020451.3(SELENON):c.-11_81del (p.Met1fs)deletion Pathogenic 373075 rs1553198464 1:26126703-26126794 1:25800212-25800303
30 RYR1 NM_000540.2(RYR1):c.10348-6C>GSNV Pathogenic/Likely pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
31 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
32 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
33 RYR1 NM_000540.2(RYR1):c.10347+1G>ASNV Pathogenic/Likely pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
34 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)SNV Pathogenic/Likely pathogenic 280026 rs199564797 1:26135641-26135641 1:25809150-25809150
35 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
36 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
37 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
38 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
39 TPM3 NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)SNV Pathogenic/Likely pathogenic 12453 rs121964854 1:154145448-154145448 1:154172972-154172972
40 SELENON NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)SNV Pathogenic/Likely pathogenic 4496 rs121908188 1:26136244-26136244 1:25809753-25809753
41 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)SNV drug response 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
42 RYR1 NM_001042723.2(RYR1):c.8446A>G (p.Met2816Val)SNV Likely pathogenic 523076 rs775492883 19:38996491-38996491 19:38505851-38505851
43 TPM3 NM_152263.4(TPM3):c.298C>G (p.Leu100Val)SNV Likely pathogenic 531180 rs121964853 1:154148670-154148670 1:154176194-154176194
44 TPM3 NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)SNV Likely pathogenic 652762 1:154148697-154148697 1:154176221-154176221
45 SELENON NM_020451.3(SELENON):c.827_829dup (p.Cys277_Leu278insSer)duplication Likely pathogenic 212149 rs797045950 1:26135595-26135596 1:25809104-25809105
46 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)SNV drug response 133183 rs193922803 19:38990310-38990310 19:38499670-38499670
47 ACTA1 NM_001100.3(ACTA1):c.132C>T (p.Gly44=)SNV Conflicting interpretations of pathogenicity 128259 rs146956806 1:229568625-229568625 1:229432878-229432878
48 RYR1 NM_000540.2(RYR1):c.10097G>A (p.Arg3366His)SNV Conflicting interpretations of pathogenicity 132990 rs137932199 19:39009932-39009932 19:38519292-38519292
49 RYR1 NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys)SNV Conflicting interpretations of pathogenicity 133021 rs147136339 19:39034191-39034191 19:38543551-38543551
50 RYR1 NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)SNV Conflicting interpretations of pathogenicity 159851 rs146429605 19:38973933-38973933 19:38483293-38483293

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 MYL2 MYH7 MYH6 ITGA7 CFL2 ACTA1
2
Show member pathways
12.7 MYL2 MYH7 MYH6 MAP3K20 ITGA7 CFL2
3
Show member pathways
12.5 RYR1 LMNA ITGA7 DMD ACTA1
4
Show member pathways
12.49 TPM3 TPM2 RYR1 NEB MYL2 MYH6
5
Show member pathways
12.37 TPM3 TPM2 MYL2 MYH7 MYH6
6
Show member pathways
12.36 MYL2 MYH7 MYH6 CFL2 ACTA1
7
Show member pathways
12.22 MYL2 MYH7 MYH6 ACTA1
8
Show member pathways
12.17 MYL2 MYH7 MYH6 CFL2
9
Show member pathways
11.98 LMNA ITGA7 EMD DMD
10 11.59 TPM3 TPM2 MYL2 MYH7 MYH6
11
Show member pathways
11.55 TPM3 TPM2 MYL2 MYH7 MYH6 LMNA
12 11.36 TPM3 TPM2 NEB MYL2 MYH6 DMD
13 11.34 MYL2 MYH7 MYH6 ITGA7 CFL2 ACTA1
14 11.19 TPM3 TPM2 DYSF
15 10.83 DMD ACTA1

GO Terms for Congenital Fiber-Type Disproportion

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 TPM3 TPM2 RYR1 NEB MYL2 MYH7
2 cytoskeleton GO:0005856 10.02 TPM3 TPM2 NEB MYL2 DMD CFL2
3 actin cytoskeleton GO:0015629 9.73 TPM3 TPM2 NEB MYL2 CFL2 ACTA1
4 sarcolemma GO:0042383 9.71 RYR1 DYSF DMD
5 actin filament GO:0005884 9.67 TPM3 TPM2 ACTA1
6 filopodium GO:0030175 9.63 MTM1 DMD ACTA1
7 Z disc GO:0030018 9.63 RYR1 NEB MYH7 MYH6 DMD CFL2
8 stress fiber GO:0001725 9.62 TPM3 MYH7 MYH6 ACTA1
9 myosin complex GO:0016459 9.61 MYL2 MYH7 MYH6
10 myosin filament GO:0032982 9.55 MYH7 MYH6
11 I band GO:0031674 9.54 RYR1 MTM1 CFL2
12 muscle myosin complex GO:0005859 9.52 MYH7 MYH6
13 muscle thin filament tropomyosin GO:0005862 9.4 TPM3 TPM2
14 myofibril GO:0030016 9.35 NEB MYL2 MYH7 MYH6 DMD
15 sarcomere GO:0030017 9.1 NEB MYL2 MYH7 MYH6 MTM1 ACTA1

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 9.73 NEB ITGA7 EMD DMD
2 regulation of heart rate GO:0002027 9.65 MYH7 MYH6 DMD
3 skeletal muscle fiber development GO:0048741 9.63 SELENON RYR1 ACTA1
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.58 MYL2 MYH7 MYH6
5 striated muscle contraction GO:0006941 9.56 MYH7 MYH6
6 cardiac muscle contraction GO:0060048 9.56 MYL2 MYH7 MYH6 DMD
7 muscle contraction GO:0006936 9.56 TPM3 TPM2 RYR1 MYH7 MYH6 EMD
8 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.55 SELENON DMD
9 cardiac muscle hypertrophy in response to stress GO:0014898 9.54 MYH7 MYH6
10 muscle cell cellular homeostasis GO:0046716 9.54 MTM1 DMD CFL2
11 adult heart development GO:0007512 9.52 MYH7 MYH6
12 mitotic nuclear envelope reassembly GO:0007084 9.51 LMNA EMD
13 regulation of the force of heart contraction GO:0002026 9.5 MYL2 MYH7 MYH6
14 regulation of ATPase activity GO:0043462 9.49 TPM2 MYH6
15 muscle fiber development GO:0048747 9.46 NEB MYL2 DYSF DMD
16 muscle filament sliding GO:0030049 9.23 TPM3 TPM2 NEB MYL2 MYH7 MYH6

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 TPM3 SELENON RYR1 NEB MYL2 MYH7
2 structural constituent of muscle GO:0008307 9.46 TPM2 NEB MYL2 DMD
3 actin filament binding GO:0051015 9.43 TPM3 TPM2 NEB MYH7 MYH6 CFL2
4 actin binding GO:0003779 9.23 TPM3 TPM2 NEB MYH7 MYH6 EMD

Sources for Congenital Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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