CFTD
MCID: MYP091
MIFTS: 43

Myopathy, Congenital, with Fiber-Type Disproportion (CFTD)

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Myopathy, Congenital, with Fiber-Type Disproportion

MalaCards integrated aliases for Myopathy, Congenital, with Fiber-Type Disproportion:

Name: Myopathy, Congenital, with Fiber-Type Disproportion 56 73
Myopathy, Congenital, with Fiber-Type Disproportion 1 56 13
Fiber-Type Disproportion Myopathy, Congenital 56 54
Cftdm 56 73
Cftd 56 73
Fiber-Type Disproportion Myopathy, Congenital; Cftdm 56
Myopathy, Congenital, with Fiber Type Disproportion 39
Congenital Fiber-Type Disproportion Myopathy 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity
onset usually at birth
approximately 25% have a severe course and die of respiratory failure
usually follows a static course or is slowly progressive
allelic disorder to rigid spine muscular dystrophy (rsmd1, )


HPO:

31
myopathy, congenital, with fiber-type disproportion:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Myopathy, Congenital, with Fiber-Type Disproportion

OMIM : 56 Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found. (255310)

MalaCards based summary : Myopathy, Congenital, with Fiber-Type Disproportion, also known as myopathy, congenital, with fiber-type disproportion 1, is related to myopathy, congenital and congenital fiber-type disproportion. An important gene associated with Myopathy, Congenital, with Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Cardiac muscle contraction. Affiliated tissues include skeletal muscle and testes, and related phenotypes are muscular hypotonia and generalized muscle weakness

UniProtKB/Swiss-Prot : 73 Myopathy, congenital, with fiber-type disproportion: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.

Related Diseases for Myopathy, Congenital, with Fiber-Type Disproportion

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 30.5 TPM3 SELENON RYR1 MYH7 HACD1 ACTA1
2 congenital fiber-type disproportion 30.2 TPM3 SELENON RYR1 MYH7 HACD1 ACTA1
3 muscular dystrophy 28.3 SELENON RYR1 MYH7 INSR ACTA1
4 myopathy 27.6 TPM3 SELENON RYR1 MYH7 INSR HACD1
5 myopathy, congenital, with fiber-type disproportion, x-linked 12.8
6 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.2
7 minicore myopathy with external ophthalmoplegia 11.2
8 hypotonia 10.5
9 lowe oculocerebrorenal syndrome 10.2
10 chromosome 1p36 deletion syndrome 10.2
11 ptosis 10.2
12 muscular disease 10.2
13 congestive heart failure 10.2
14 metabolic myopathy 10.2
15 intermediate congenital nemaline myopathy 10.2 TPM3 ACTA1
16 atrial standstill 1 10.2
17 dilated cardiomyopathy 10.2
18 nemaline myopathy 10.2 TPM3 ACTA1
19 childhood-onset nemaline myopathy 10.2 TPM3 ACTA1
20 cap myopathy 10.2 TPM3 ACTA1
21 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1 TPM3 ACTA1
22 congenital myopathy with cores 10.0 RYR1 ACTA1
23 multiminicore disease 9.9 SELENON RYR1
24 myopathy, congenital, bailey-bloch 9.9 SELENON RYR1
25 central core disease of muscle 9.9 SELENON RYR1
26 autosomal dominant distal myopathy 9.8 MYH7 ACTA1
27 myotonic disease 9.7 RYR1 INSR
28 scapuloperoneal myopathy 9.7 MYH7 ACTA1
29 myopathy, centronuclear, x-linked 9.7 RYR1 HACD1
30 arthrogryposis, distal, type 1a 9.7 TPM3 RYR1 ACTA1
31 isolated elevated serum creatine phosphokinase levels 9.7 SELENON RYR1
32 bone structure disease 9.6 SELENON RYR1
33 myopathy, centronuclear, 2 9.5 TPM3 RYR1
34 myofibrillar myopathy 9.5 SELENON MYH7 ACTA1
35 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 RYR1 MYH7
36 muscular dystrophy, congenital, lmna-related 9.4 SELENON MYH7 ACTA1
37 bethlem myopathy 1 9.3 SELENON RYR1 MYH7
38 malignant hyperthermia 9.3 SELENON RYR1 MYH7
39 muscle tissue disease 9.3 SELENON RYR1 MYH7
40 hyaline body myopathy 9.3 TPM3 SELENON MYH7 ACTA1
41 neuromuscular disease 9.2 RYR1 MYH7 ACTA1
42 central core myopathy 9.1 SELENON RYR1 MYH7 ACTA1
43 rigid spine muscular dystrophy 1 9.1 SELENON RYR1 MYH7 ACTA1
44 respiratory failure 9.0 SELENON RYR1 MYH7 ACTA1
45 centronuclear myopathy 8.9 SELENON RYR1 INSR HACD1 ACTA1
46 congenital structural myopathy 8.8 TPM3 SELENON RYR1 MYH7 ACTA1

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



Diseases related to Myopathy, Congenital, with Fiber-Type Disproportion

Symptoms & Phenotypes for Myopathy, Congenital, with Fiber-Type Disproportion

Human phenotypes related to Myopathy, Congenital, with Fiber-Type Disproportion:

31 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 hallmark (90%) HP:0001252
2 generalized muscle weakness 31 hallmark (90%) HP:0003324
3 reduced tendon reflexes 31 hallmark (90%) HP:0001315
4 recurrent respiratory infections 31 frequent (33%) HP:0002205
5 failure to thrive 31 frequent (33%) HP:0001508
6 respiratory insufficiency due to muscle weakness 31 frequent (33%) HP:0002747
7 high palate 31 frequent (33%) HP:0000218
8 pectus excavatum 31 frequent (33%) HP:0000767
9 waddling gait 31 frequent (33%) HP:0002515
10 emg: myopathic abnormalities 31 frequent (33%) HP:0003458
11 type 1 muscle fiber atrophy 31 frequent (33%) HP:0011807
12 motor delay 31 frequent (33%) HP:0001270
13 joint laxity 31 frequent (33%) HP:0001388
14 long face 31 frequent (33%) HP:0000276
15 decreased fetal movement 31 frequent (33%) HP:0001558
16 hip contracture 31 frequent (33%) HP:0003273
17 tented upper lip vermilion 31 frequent (33%) HP:0010804
18 ankle flexion contracture 31 frequent (33%) HP:0006466
19 weak cry 31 frequent (33%) HP:0001612
20 poor suck 31 frequent (33%) HP:0002033
21 reduced vital capacity 31 frequent (33%) HP:0002792
22 fatigable weakness of bulbar muscles 31 frequent (33%) HP:0030192
23 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
24 short stature 31 occasional (7.5%) HP:0004322
25 hyperlordosis 31 occasional (7.5%) HP:0003307
26 micrognathia 31 occasional (7.5%) HP:0000347
27 ptosis 31 occasional (7.5%) HP:0000508
28 elbow flexion contracture 31 occasional (7.5%) HP:0002987
29 scapular winging 31 occasional (7.5%) HP:0003691
30 congenital hip dislocation 31 very rare (1%) HP:0001374
31 talipes equinovarus 31 occasional (7.5%) HP:0001762
32 kyphoscoliosis 31 occasional (7.5%) HP:0002751
33 ophthalmoplegia 31 very rare (1%) HP:0000602
34 polyhydramnios 31 occasional (7.5%) HP:0001561
35 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
36 knee flexion contracture 31 occasional (7.5%) HP:0006380
37 calf muscle hypertrophy 31 occasional (7.5%) HP:0008981
38 flexion contracture of finger 31 occasional (7.5%) HP:0012785
39 intellectual disability 31 very rare (1%) HP:0001249
40 scoliosis 31 very rare (1%) HP:0002650
41 cryptorchidism 31 very rare (1%) HP:0000028
42 dilated cardiomyopathy 31 very rare (1%) HP:0001644
43 limb joint contracture 31 very rare (1%) HP:0003121
44 neonatal hypotonia 31 HP:0001319
45 dysphagia 31 HP:0002015
46 feeding difficulties 31 HP:0011968
47 respiratory insufficiency 31 HP:0002093
48 narrow face 31 HP:0000275
49 facial palsy 31 HP:0010628
50 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Head And Neck Eyes:
ptosis
ophthalmoplegia (in 20%)

Prenatal Manifestations Movement:
decreased fetal movement

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding
poor swallowing

Cardiovascular Heart:
dilated cardiomyopathy has been reported in 1 patient

Skeletal Limbs:
limb contractures (in 25%)

Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
hypotonia, neonatal
bulbar weakness
muscle biopsy shows hypotrophy of type 1 muscle fibers
more
Head And Neck Face:
long face
facial muscle weakness
thin face

Respiratory:
weak cry
respiratory distress due to muscle weakness
decreased forced vital capacity
mechanical ventilation required in severe cases

Skeletal Spine:
lumbar lordosis
scoliosis (in 25%)

Skeletal:
contractures

Skeletal Pelvis:
congenital dislocation of the hips (in 13%)

Clinical features from OMIM:

255310

MGI Mouse Phenotypes related to Myopathy, Congenital, with Fiber-Type Disproportion:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ACTA1 HACD1 INSR MYH7 RYR1 SELENON

Drugs & Therapeutics for Myopathy, Congenital, with Fiber-Type Disproportion

Search Clinical Trials , NIH Clinical Center for Myopathy, Congenital, with Fiber-Type Disproportion

Genetic Tests for Myopathy, Congenital, with Fiber-Type Disproportion

Anatomical Context for Myopathy, Congenital, with Fiber-Type Disproportion

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

40
Skeletal Muscle, Testes

Publications for Myopathy, Congenital, with Fiber-Type Disproportion

Articles related to Myopathy, Congenital, with Fiber-Type Disproportion:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 61 56 6
18300303 2008
2
The pathogenesis of ACTA1-related congenital fiber type disproportion. 56 6 61
17387733 2007
3
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 56 6 61
16365872 2006
4
Actin mutations are one cause of congenital fibre type disproportion. 56 6 61
15468086 2004
5
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 61 6
24095155 2013
6
Congenital Fiber-Type Disproportion – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301436 2007
7
Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family. 56 61
15857933 2005
8
Congenital fiber type disproportion--30 years on. 56 61
14575234 2003
9
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. 56 61
12376748 2002
10
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. 61 56
3342545 1988
11
Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook. 56 61
507896 1979
12
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 6
20554445 2010
13
A TPM3 mutation causing cap myopathy. 6
19553118 2009
14
TPM3 mutation in one of the original cases of cap disease. 6
19487656 2009
15
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
16
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 6
15668457 2005
17
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
18
"Cap disease"--a failure in the correct muscle fibre formation. 6
12163190 2002
19
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. 56
11731796 2002
20
Monosomy 1p36. 56
10507720 1999
21
Cardiac manifestations of congenital fiber-type disproportion myopathy. 56
10073429 1999
22
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. 56
9326330 1997
23
Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. 56
7706500 1995
24
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. 56
7908614 1994
25
Congenital fibre type disproportion with unusual clinico-pathologic manifestations. 56
6842223 1983
26
Congenital fiber type disproportion in identical twins. 56
569460 1977
27
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
28
[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family]. 56
130671 1975
29
The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. 56
5814304 1969
30
Temperature dependence of the [Formula: see text] anomaly in the excitation spectrum of the 2D quantum Heisenberg antiferromagnet. 61
32050188 2020
31
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases. 61
31866162 2020
32
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. 61
31127036 2019
33
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia. 61
31102500 2019
34
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin. 61
29338614 2019
35
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant. 61
30556256 2019
36
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
37
Anaesthetic management of a paediatric patient with congenital fibre type disproportion myopathy. 61
29699707 2018
38
Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature. 61
29682451 2018
39
MYH7 mutation associated with two phenotypes of myopathy. 61
29170849 2018
40
Current and future therapeutic approaches to the congenital myopathies. 61
27515125 2017
41
Congenital fiber type disproportion. 61
26526626 2016
42
Fractional excitations in the square lattice quantum antiferromagnet. 61
25729400 2015
43
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. 61
24424126 2014
44
Congenital fiber type disproportion myopathy caused by LMNA mutations. 61
24642510 2014
45
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 61
24507666 2014
46
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
47
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. 61
23762716 2013
48
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. 61
21677359 2011
49
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. 61
20951040 2010
50
Testing frequency-domain causality in multivariate time series. 61
20176533 2010

Variations for Myopathy, Congenital, with Fiber-Type Disproportion

ClinVar genetic disease variations for Myopathy, Congenital, with Fiber-Type Disproportion:

6 (show top 50) (show all 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
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 SELENON NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)SNV Pathogenic/Likely pathogenic 280026 rs199564797 1:26135641-26135641 1:25809150-25809150
34 RYR1 NM_000540.2(RYR1):c.10347+1G>ASNV Pathogenic/Likely pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
35 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
36 RYR1 NM_000540.2(RYR1):c.10348-6C>GSNV Pathogenic/Likely pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
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.271C>T (p.Arg91Cys)SNV Likely pathogenic 652762 1:154148697-154148697 1:154176221-154176221
44 TPM3 NM_152263.4(TPM3):c.298C>G (p.Leu100Val)SNV Likely pathogenic 531180 rs121964853 1:154148670-154148670 1:154176194-154176194
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 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Congenital, with Fiber-Type Disproportion:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ACTA1 p.Leu223Pro VAR_032917 rs121909530
2 ACTA1 p.Asp294Val VAR_032918 rs121909529
3 ACTA1 p.Pro334Ser VAR_032919 rs121909531
4 SELENON p.Gly315Ser VAR_019637 rs121908188
5 TPM3 p.Leu100Met VAR_070066 rs121964853
6 TPM3 p.Arg168Cys VAR_070067 rs121964854
7 TPM3 p.Arg168Gly VAR_070068 rs121964854
8 TPM3 p.Arg168His VAR_070069 rs121964852
9 TPM3 p.Lys169Glu VAR_070070 rs199474715
10 TPM3 p.Arg245Gly VAR_070071 rs199474718
11 TPM3 p.Ala4Val VAR_071499 rs199474711
12 TPM3 p.Arg91Pro VAR_071502 rs199474713
13 TPM3 p.Leu100Val VAR_071503
14 TPM3 p.Glu174Ala VAR_071506 rs199474716
15 TPM3 p.Glu241Lys VAR_071507 rs199474717

Expression for Myopathy, Congenital, with Fiber-Type Disproportion

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

Pathways for Myopathy, Congenital, with Fiber-Type Disproportion

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 TPM3 MYH7 INSR
2 11.1 TPM3 MYH7
3 10.81 TPM3 ACTA1

GO Terms for Myopathy, Congenital, with Fiber-Type Disproportion

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

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.16 TPM3 ACTA1
2 sarcomere GO:0030017 8.96 MYH7 ACTA1
3 stress fiber GO:0001725 8.8 TPM3 MYH7 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.33 TPM3 MYH7 ACTA1
2 skeletal muscle fiber development GO:0048741 9.13 SELENON RYR1 ACTA1
3 muscle contraction GO:0006936 8.92 TPM3 RYR1 MYH7 ACTA1

Sources for Myopathy, Congenital, with 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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