MCID: CNG046
MIFTS: 51

Congenital Fiber-Type Disproportion malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Congenital Fiber-Type Disproportion

About this section
Sources:
10Disease Ontology, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45NIH Rare Diseases, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 10 21 22 23 12
Cftdm 21 45 22 23 51
Congenital Myopathy with Fiber-Type Disproportion 21 22
Congenital Myopathy with Fiber Type Disproportion 23 24
Fiber-Type Disproportion Myopathy, Congenital 45 47
 
Congenital Fiber-Type Disproportion Myopathy 45 51
Congenital Fiber Type Disproportion 45 47
Myopathy, Congenital with Fiber-Type Disproportion 45
Cftd 23

Characteristics:

Orphanet epidemiological data:

51
cftdm:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0080102
Orphanet51 2020
ICD10 via Orphanet28 G71.2
UMLS via Orphanet66 C0546264

Summaries for Congenital Fiber-Type Disproportion

About this section
Genetics Home Reference:23 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 cftdm, is related to myopathy, congenital, with fiber-type disproportion and minicore myopathy with external ophthalmoplegia, and has symptoms including muscular hypotonia, reduced tendon reflexes and myopathy. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Smooth Muscle Contraction. Affiliated tissues include heart, eye and skeletal muscle, and related mouse phenotypes are liver/biliary system and skeleton.

NIH Rare Diseases:45 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. last updated: 9/5/2012

Wikipedia:68 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews summary for NBK1259

Related Diseases for Congenital Fiber-Type Disproportion

About this section

Diseases in the Congenital Fiber-Type Disproportion family:

Acta1-Related Congenital Fiber-Type Disproportion Myh7-Related Congenital Fiber-Type Disproportion
Ryr1-Related Congenital Fiber-Type Disproportion Sepn1-Related Congenital Fiber-Type Disproportion
Tpm2-Related Congenital Fiber-Type Disproportion Tpm3-Related 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion32.6ACTA1, HACD1, MYH7, RYR1, SEPN1, TPM3
2minicore myopathy with external ophthalmoplegia31.3MYH7, RYR1, SEPN1
3acta1-related congenital fiber-type disproportion12.7
4myh7-related congenital fiber-type disproportion12.7
5ryr1-related congenital fiber-type disproportion12.7
6sepn1-related congenital fiber-type disproportion12.7
7tpm2-related congenital fiber-type disproportion12.7
8tpm3-related congenital fiber-type disproportion12.7
9qazi markouizos syndrome10.6
10schizophrenia10.5
11nemaline myopathy 1, autosomal dominant or recessive10.5ACTA1, TPM3
12intermediate severe salla disease10.5ACTA1, TPM3
13x-linked cleft palate and ankyloglossia10.4MYH7, SEPN1
14tyrosine-oxidase temporary deficiency10.4ACTA1, TPM2
15multiple epiphyseal dysplasia, autosomal dominant10.4RYR1, SEPN1
16muscular dystrophy, rigid spine, 110.4ACTA1, SEPN1
17west nile virus10.4
18leprosy10.4
19choroid plexus papilloma10.4
20tendinitis10.4
21chronic lymphocytic leukemia10.4
22leukemia10.4
23thalassemia10.4
24artery disease10.4
25leukodystrophy10.4
26petrositis10.4
27choroiditis10.4
28esophagitis10.4
29entropion10.4
30amenorrhea10.4
31calcific tendinitis10.4
32vulvovaginitis10.4
33leptospirosis10.4
34cervicitis10.4
35papilloma10.4
36dermatitis10.4
37papillary carcinoma10.4
38ischemia10.4
39mood disorder10.4
40carotid artery disease10.4
41retinitis10.4
42hidradenoma10.4
43avian influenza10.4
44malignant triton tumor10.4
45thyroiditis10.4
46appendicitis10.4
47influenza10.4
48retinal artery occlusion10.4
49dermatitis herpetiformis10.4
50cholesteatoma10.4

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



Diseases related to congenital fiber-type disproportion

Symptoms for Congenital Fiber-Type Disproportion

About this section

Symptoms:

 51 (show all 8)
  • hypotonia
  • areflexia/hyporeflexia
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • pectus excavatum
  • scoliosis
  • repeat respiratory infections

HPO human phenotypes related to Congenital Fiber-Type Disproportion:

(show all 6)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced tendon reflexes hallmark (90%) HP:0001315
3 myopathy hallmark (90%) HP:0003198
4 pectus excavatum typical (50%) HP:0000767
5 recurrent respiratory infections typical (50%) HP:0002205
6 scoliosis typical (50%) HP:0002650

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

About this section

Genetic tests related to Congenital Fiber-Type Disproportion:

id Genetic test Affiliating Genes
1 Congenital Fiber-Type Disproportion22 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

About this section

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

33
Heart, Eye, Skeletal muscle, Liver, T cells, Prostate, Skin

Animal Models for Congenital Fiber-Type Disproportion or affiliated genes

About this section

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4ACTA1, GALC, INSR, LMNA, MYL2, TNNT3
2MP:00053908.0ACTA1, GALC, ITGA7, LMNA, RYR1, SEPN1
3MP:00053857.4GALC, INSR, ITGA7, LMNA, MYH7, MYL2
4MP:00053787.3ACTA1, GALC, INSR, ITGA7, LMNA, MYL2
5MP:00053696.7ACTA1, GALC, INSR, ITGA7, LMNA, MYH7

Publications for Congenital Fiber-Type Disproportion

About this section

Articles related to Congenital Fiber-Type Disproportion:

(show all 41)
idTitleAuthorsYear
1
Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa. (25265376)
2015
2
A blueprint for research on Shankopathies: A view from research on autism spectrum disorder. (24218108)
2014
3
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. (24519355)
2014
4
Investigation of melanocortin system gene variants in antipsychotic-induced weight gain. (24564533)
2014
5
Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue. (23572067)
2013
6
Expression of Glutamate Decarboxylase (GAD) mRNA in the Brain of Bile Duct Ligated Rats Serving as a Model of Hepatic Encephalopathy. (23904086)
2013
7
Effects of CYP2C9*1/*3 and *1/*13 on the pharmacokinetics of losartan and its active metabolite E-3174. (22735459)
2012
8
Acute progression of electrophysiologically affected fellow eye in unilaterally symptomatic acute zonal occult outer retinopathy. (21887099)
2011
9
Intra-articular chromic phosphate (A^A^P) in the treatment of diffuse pigmented villonodular synovitis. (20685177)
2011
10
Loss of steroid receptor co-activator-3 attenuates carbon tetrachloride-induced murine hepatic injury and fibrosis. (19488034)
2009
11
Prognostic relevance of TTF-1 and MMP-9 expression in advanced lung adenocarcinoma. (18801593)
2009
12
Survival of priceless cells: active and passive protection of embryonic stem cells against immune destruction. (17459325)
2007
13
Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study. (17063263)
2007
14
Expression of the granzyme B inhibitor PI9 predicts outcome in nasal NK/T-cell lymphoma: results of a Western series of 48 patients treated with first-line polychemotherapy within the Groupe d'Etude des Lymphomes de l'Adulte (GELA) trials. (17077322)
2007
15
Comparison of levels of inflammatory markers and hemostatic factors in the patients with and without peripheral arterial disease. (15890391)
2006
16
Back to basics: local care for skin disease. (17243423)
2006
17
Up-regulation of angiopoietin-2, matrix metalloprotease-2, membrane type 1 metalloprotease, and laminin 5 gamma 2 correlates with the invasiveness of human glioma. (15743799)
2005
18
Effect of alpha2B-adrenoceptor polymorphism on peripheral vasoconstriction in healthy volunteers. (15731590)
2005
19
Genital porokeratosis. (15246948)
2004
20
Expression of pro-angiogenic growth factors VEGF, EGF and bFGF and their topographical relation to neovascularisation in prostate cancer. (15250102)
2004
21
Detection of a nosocomial outbreak of salmonellosis may be delayed by application of a protocol for rejection of stool cultures. (12818580)
2003
22
E6AP gene suppression and characterization with in vitro selected hammerhead ribozymes. (12944990)
2003
23
Angiopoietins have distinct modular domains essential for receptor binding, dimerization and superclustering. (12469114)
2003
24
The endocytic pathway followed by the keratinocyte growth factor receptor. (12122441)
2002
25
Pharmacological and molecular characterisation of SK3 channels in the TE671 human medulloblastoma cell line. (12020846)
2002
26
Successful treatment of refractory anemia by high-dose methylprednisolone associated with an increment in CD68-positive cells in bone marrow. (11421303)
2001
27
Th1 cytokines stimulate RANTES chemokine secretion by human astroglial cells depending on de novo transcription. (11478739)
2001
28
Corneal myxoma associated with keratoconus and Down's syndrome. (10928779)
2000
29
Role of salt bridge(s) in the binding and photoconversion of bilirubin bound to high affinity site on human serum albumin. (11004533)
2000
30
Understanding pediatric intestinal pseudo-obstruction: implications for nurses. (9555362)
1998
31
Estrogen receptor diminishes DNA-binding activities of chicken GATA-1 and CACCC-binding proteins. (9428796)
1997
32
Regulation of myosin phosphatase by Rho and Rho-associated kinase (Rho-kinase) (8662509)
1996
33
Apo-E genotype and verbal deficits in Alzheimer's disease. (8854306)
1996
34
Increased cytotoxicity of 3-morpholinosydnonimine to HepG2 cells in the presence of superoxide dismutase. Role of hydrogen peroxide and iron. (7673115)
1995
35
Characterization of cAMP-dependent inhibition of LPS-induced TNF alpha production by rolipram, a specific phosphodiesterase IV (PDE IV) inhibitor. (7843852)
1994
36
Segmental macroscopic colitis associated with collagenous colitis. (1607615)
1992
37
Signal transduction and gene control: the cAMP pathway. (1329990)
1992
38
Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs. (1871135)
1991
39
Disorders of gastrointestinal motility in neurologic diseases. (2164123)
1990
40
Synergistic effects of proton and phenylalanine on the regulation of muscle pyruvate kinase. (2176882)
1990
41
Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. (4685849)
1973

Variations for Congenital Fiber-Type Disproportion

About this section

Clinvar genetic disease variations for Congenital Fiber-Type Disproportion:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TPM3NM_152263.3(TPM3): c.503G> A (p.Arg168His)single nucleotide variantPathogenicrs121964852GRCh37Chr 1, 154145447: 154145447

Expression for genes affiliated with Congenital Fiber-Type Disproportion

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

Pathways for genes affiliated with Congenital Fiber-Type Disproportion

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.8MYH7, MYL2
29.5TPM1, TPM2, TPM3
3
Show member pathways
9.3ACTA1, ITGA7, MYH7, MYL2
4
Show member pathways
9.2ACTA1, ITGA7, LMNA, RYR1
58.8MYH7, MYL2, TPM1, TPM2, TPM3
6
Show member pathways
8.8ACTA1, INSR, ITGA7, MYH7, MYL2
7
Show member pathways
8.3INSR, MYH7, MYL2, TPM1, TPM2, TPM3
8
Show member pathways
8.1ITGA7, LMNA, MYH7, MYL2, TPM1, TPM2
97.5ACTA1, MYL2, TNNI2, TNNT3, TPM1, TPM2
10
Show member pathways
7.4MYL2, RYR1, TNNI2, TNNT3, TPM1, TPM2

GO Terms for genes affiliated with Congenital Fiber-Type Disproportion

About this section

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

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:000172510.6ACTA1, TPM3
2cytosolGO:00058298.1ACTA1, INSR, LMNA, MYL2, RYR1, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:004874110.1RYR1, SEPN1
2regulation of striated muscle contractionGO:000694210.0MYL2, TNNT3
3muscle contractionGO:00069369.1ACTA1, RYR1, TPM1
4cardiac muscle contractionGO:00600488.8MYL2, TNNI2, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037798.0TNNI2, TNNT3, TPM1, TPM2, TPM3

Sources for Congenital Fiber-Type Disproportion

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet