MCID: THN001
MIFTS: 62

Thanatophoric Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Skin diseases categories
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Summaries for Thanatophoric Dysplasia

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NIH Rare Diseases:42 Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. a few affected individuals have survived into childhood with extensive medical help. thanatophoric dysplasia is caused by mutations in the fgfr3 gene. while this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family.two major forms of thanatophoric dysplasia have been described, type i and type ii. type i thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). type ii thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull. last updated: 12/13/2012

MalaCards based summary: Thanatophoric Dysplasia, also known as thanatophoric dwarfism, is related to hypochondroplasia and achondroplasia. An important gene associated with Thanatophoric Dysplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Alzheimers Disease Pathway and Internalization of ErbB1. The compounds pd 161570 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are tumorigenesis and craniofacial.

Disease Ontology:8 An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

Genetics Home Reference:21 Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Wikipedia:65 Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small... more...

Description from OMIM:46 187600

GeneReviews summary for td

Aliases & Classifications for Thanatophoric Dysplasia

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Thanatophoric Dysplasia, Aliases & Descriptions:

Name: Thanatophoric Dysplasia 8 65 19 42 20 21 10 44
Thanatophoric Dwarfism 42 21
Dwarf, Thanatophoric 65 21
Thanatophoric Dysplasia, Type I 62
 
Td - Thanatophoric Dwarfism 65
Thanatophoric Short Stature 21
Dwarfism Thanatophoric 42


Classifications:



External Ids:

Disease Ontology8 DOID:13481
MeSH34 D013796
NCIt39 C85187
SNOMED-CT57 29352008
OMIM46 187600
ICD1025 Q77.1

Related Diseases for Thanatophoric Dysplasia

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Diseases in the Thanatophoric Dysplasia Type 1 family:

thanatophoric dysplasia Thanatophoric Dysplasia Type 2

Diseases related to Thanatophoric Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia30.9TK1, FGFR2, FGF3, FGFR3
2achondroplasia30.9PTH1R, COMP, FGFR2, FGF3, FGFR3, FGF9
3acanthosis nigricans30.7FGFR3, FGFR2
4osteogenesis imperfecta30.6FGFR3, PTH1R
5syndactyly30.6FGFR2, FGFR3
6crouzon syndrome30.3FGFR2, FGF2, FGFR3
7dwarfism30.3PTH1R, STAT1, COMP, FGFR2, FGFR3
8bladder carcinoma29.9TKT, FGFR2, FGF2, FGFR3
9thanatophoric dysplasia type 210.8
10thanatophoric dysplasia type 110.8
11skeletal dysplasias10.6
12osteochondroma10.5FGFR3
13beare-stevenson cutis gyrata syndrome10.5FGFR2
14thanatophoric dysplasia glasgow variant10.4
15saethre-chotzen syndrome10.4FGFR2, FGFR3
16fgfr-related craniosynostosis syndromes10.4FGFR2, FGFR3
17jackson-weiss syndrome10.4FGFR2, FGFR3
18muenke syndrome10.4FGFR3, FGFR2
19ladd syndrome10.4FGFR3, FGFR2
20infectious mononucleosis10.4FGFR3, FGFR2
21acrocephalosyndactylia10.4FGFR2, FGFR3
22strabismus10.4FGFR2, FGFR3
23encephalocele10.4
24synostosis10.4FGFR3, FGFR2
25brachydactyly10.3FGFR3, COMP
26achondrogenesis10.3
27gliosarcoma10.3TKT
28cerebritis10.3
29platyspondylic lethal skeletal dysplasia torrance type10.3
30skeletal dysplasia, san diego type10.3
31megalencephaly10.3
32hypophosphatasia10.2
33atherosclerosis10.1
34holoprosencephaly10.1
35hydrocephalus10.1
36spinal cord injury10.1
37chorioangioma10.1
38choroiditis10.1
39saddan10.1
40agenesis of the corpus callosum10.1
41tardive dyskinesia10.1
42craniosynostosis 410.1
43semilobar holoprosencephaly10.1
44renal dysplasia10.1
45cervical cancer10.1FGFR3, TKT, STAT1
46skeletal dysplasia multi-gene panels10.1PTH1R, STAT1, COMP, FGFR2, FGFR3
47chronic lymphocytic leukemia10.0STAT1, TK1, TKT
48retinoblastoma10.0PARK2, FGFR2, FGF3, FGFR3
49kaposi's sarcoma10.0FGFR2, FGF3, FGF2
50t-cell leukemia10.0TKT, STAT1, CBL

Graphical network of the top 20 diseases related to Thanatophoric Dysplasia:



Diseases related to thanatophoric dysplasia

Symptoms for Thanatophoric Dysplasia

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Clinical features from OMIM:

187600

Drugs & Therapeutics for Thanatophoric Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia

Search NIH Clinical Center for Thanatophoric Dysplasia

Genetic Tests for Thanatophoric Dysplasia

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Genetic tests related to Thanatophoric Dysplasia:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia20 FGFR3

Anatomical Context for Thanatophoric Dysplasia

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MalaCards organs/tissues related to Thanatophoric Dysplasia:

32
Skin, Bone, Eye, Lung, Brain, Temporal lobe, Cortex, Spinal cord, Fetal brain

Animal Models for Thanatophoric Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Thanatophoric Dysplasia:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8SPRY2, STAT1, FGFR2, FGF2, FGFR3
2MP:00053828.6SPRY2, PTH1R, CBL, FGFR2, FGFR3, FGF9
3MP:00053708.4CBL, STAT1, TK1, TKT, FGFR2
4MP:00053878.4FGFR3, FGFR2, TK1, COMP, STAT1, CBL
5MP:00030128.4PARK2, STAT1, FGFR2, FGF3, FGFR3
6MP:00053818.3SPRY2, PTH1R, STAT1, TK1, FGFR2, FGFR3
7MP:00028738.3STAT1, COMP, TK1, FGFR2, FGF3, FGFR3
8MP:00107718.1PARK2, CBL, STAT1, FGFR2, FGFR3, FGF9
9MP:00053798.0SPRY2, CBL, TK1, TKT, FGFR2, FGF9
10MP:00053778.0SPRY2, CBL, FGFR2, FGF3, FGF2, FGFR3
11MP:00053918.0SPRY2, STAT1, TKT, FGFR2, FGF2, FGFR3
12MP:00053717.8FGF9, SPRY2, PTH1R, CBL, STAT1, COMP
13MP:00053977.7CBL, STAT1, TK1, FGFR2, FGF2, FGFR3
14MP:00053697.6PARK2, CBL, STAT1, COMP, FGFR2, FGF2
15MP:00053847.4PARK2, CBL, STAT1, FGFR2, FGF2, FGFR3
16MP:00053887.3SPRY2, PTH1R, PARK2, CBL, TK1, FGFR2
17MP:00036317.1SPRY2, PARK2, STAT1, TKT, FGFR2, FGF3
18MP:00053897.0SPRY2, CBL, TK1, TKT, FGFR2, FGF3
19MP:00053856.8PARK2, CBL, STAT1, TK1, TKT, FGFR2
20MP:00053766.8PTH1R, PARK2, CBL, STAT1, TK1, FGFR2
21MP:00053906.7PTH1R, PARK2, CBL, STAT1, COMP, FGFR2
22MP:00053786.5SPRY2, PTH1R, PARK2, CBL, STAT1, COMP
23MP:00053866.0COMP, STAT1, CBL, PARK2, TK1, TKT
24MP:00107685.6STAT1, CBL, PARK2, PTH1R, SPRY2, TK1

Publications for Thanatophoric Dysplasia

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Articles related to Thanatophoric Dysplasia:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. (24678489)
2014
2
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. (25119967)
2014
3
Thanatophoric dysplasia: autopsy findings over a 25-year period. (23323754)
2013
4
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. (23573386)
2013
5
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. (24075385)
2013
6
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. (22734441)
2012
7
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
8
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. (22106050)
2012
9
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
10
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. (20034074)
2010
11
A case report on the antenatal three dimensional sonographic features of thanatophoric dysplasia. (19530593)
2009
12
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. (19752524)
2009
13
The French telephone receiver sign in thanatophoric dysplasia. (19358493)
2009
14
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. (18987480)
2008
15
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
16
Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia. (16214145)
2005
17
Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. (15906417)
2005
18
Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasia. (15116319)
2004
19
Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report. (15067234)
2004
20
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. (12624096)
2003
21
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen. (12605444)
2003
22
Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia. (12566756)
2002
23
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. (11851976)
2002
24
Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings. (11309183)
2001
25
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
26
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. (10910625)
1999
27
Thanatophoric dysplasia. (11155884)
1999
28
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
29
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. (9869286)
1998
30
Thanatophoric dysplasia type I with syndactyly. (9843049)
1998
31
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. (9438390)
1998
32
Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. (8843623)
1996
33
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. (8723102)
1996
34
Second trimester diagnosis of thanatophoric dysplasia. (8921645)
1996
35
In vitro studies on clonal growth of chondrocytes in thanatophoric dysplasia. (8725794)
1996
36
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. (8589699)
1995
37
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. (1308351)
1992
38
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. (1481860)
1992
39
Neural arch stenosis and spinal cord injury in thanatophoric dysplasia. (1985437)
1991
40
Histopathology of the temporal bones in thanatophoric dysplasia. (1369657)
1991
41
Cerebral abnormalities in thanatophoric dysplasia. (2054803)
1991
42
Thanatophoric dysplasia in identical twins. (2716037)
1989
43
Thanatophoric dysplasia and cloverleaf skull. (3130852)
1987
44
The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management. (3301448)
1987
45
Case report 386: Thanatophoric dysplasia (TD). (3532348)
1986
46
The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia. (4025393)
1985
47
Thanatophoric dysplasia. (6430028)
1984
48
Early antenatal sonographic recognition of thanatophoric dysplasia with cloverleaf skull deformity. (6332495)
1984
49
Thanatophoric dysplasia of identical twins. (6538757)
1984
50
Thanatophoric dysplasia with cloverleaf skull. (6351595)
1983

Variations for Thanatophoric Dysplasia

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Clinvar genetic disease variations for Thanatophoric Dysplasia:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
2FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
3FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
4FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
6FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
7FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
8FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
9FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
11FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
12FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
13FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia

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Expression patterns in normal tissues for genes affiliated with Thanatophoric Dysplasia

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Pathways for genes affiliated with Thanatophoric Dysplasia

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Pathways related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FGFR3, FGFR2
29.6CBL, SPRY2
39.6SPRY2, CBL
4
Show member pathways
Angiogenesis37
9.5FGF2, FGFR2
59.4FGFR3, FGFR2, CBL
6
Show member pathways
Type III interferon signaling37
9.4STAT1, CBL, SPRY2
79.4SPRY2, CBL, STAT1
89.3FGFR3, FGF2, FGFR2
99.3FGFR3, FGF2, FGFR2
10
Show member pathways
9.3FGFR2, FGF2, FGFR3
11
Show member pathways
9.3FGFR2, FGF2, FGFR3
12
Show member pathways
9.2FGF9, FGFR3, FGF2
139.1SPRY2, CBL, STAT1, FGFR2
149.0FGFR3, FGF2, STAT1, PTH1R
15
Show member pathways
9.0STAT1, FGFR2, FGF2, FGFR3
16
Show member pathways
9.0STAT1, FGFR2, FGF2, FGFR3
178.8CBL, FGFR2, FGF2, FGFR3
18
Show member pathways
8.8CBL, FGFR2, FGF2, FGFR3
19
Show member pathways
8.8FGFR3, FGF2, FGFR2, CBL
208.6FGF9, FGF2, FGF3, CBL
21
Show member pathways
8.6CBL, STAT1, FGFR2, FGF2, FGFR3
22
Show member pathways
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
23
Show member pathways
MAPK signaling pathway37
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
24
Show member pathways
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
25
Show member pathways
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
26
Show member pathways
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
27
Show member pathways
8.5FGFR2, FGF3, FGF2, FGFR3, FGF9
28
Show member pathways
8.3STAT1, FGFR2, FGF3, FGF2, FGFR3, FGF9
29
Show member pathways
8.3STAT1, FGFR2, FGF3, FGF2, FGFR3, FGF9
30
Show member pathways
8.3STAT1, FGFR2, FGF3, FGF2, FGFR3, FGF9
318.2COMP, FGFR2, FGF3, FGF2, FGFR3, FGF9
32
Show member pathways
8.1CBL, FGFR2, FGF3, FGF2, FGFR3, FGF9
337.8CBL, STAT1, FGFR2, FGF3, FGF2, FGFR3
34
Show member pathways
7.8CBL, STAT1, FGFR2, FGF3, FGF2, FGFR3
35
Show member pathways
7.8CBL, STAT1, FGFR2, FGF3, FGF2, FGFR3
36
Show member pathways
7.7FGF9, SPRY2, CBL, FGFR2, FGF3, FGF2
37
Show member pathways
Signaling Pathways in Glioblastoma37
7.7SPRY2, CBL, FGFR2, FGF3, FGF2, FGFR3
38
Show member pathways
7.4SPRY2, CBL, STAT1, FGFR2, FGF3, FGF2
397.4SPRY2, CBL, STAT1, FGFR2, FGF3, FGF2
40
Show member pathways
7.2PARK2, CBL, FGFR2, FGF3, FGF2, FGFR3
41
Show member pathways
7.1SPRY2, PTH1R, CBL, STAT1, FGFR2, FGF3

Compounds for genes affiliated with Thanatophoric Dysplasia

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Compounds related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1pd 1615706110.3FGFR2, FGFR3
2fiin 1 hydrochloride6110.3FGFR2, FGFR3
3su 54026110.3FGFR2, FGFR3
4palifermin44 1111.2FGFR2, FGFR3
5sucrose octasulfate44 1110.9FGFR2, FGF2
6bvdu449.8TKT, TK1
7cysteine449.8FGFR3, FGFR2, COMP, STAT1
8deoxynucleoside449.8TK1, TKT
9sulfate44 2410.7FGFR3, FGFR2, COMP
10su5402449.7FGFR2, FGF2, FGFR3
11pd 17307444 6110.7FGFR3, FGF2, FGFR2
12vitamin d449.6PTH1R, STAT1, COMP, FGFR2
13piceatannol44 61 1111.6TKT, STAT1, CBL
14thalidomide44 50 61 1112.6FGFR2, FGF2, FGFR3
15phenylalanine449.6CBL, STAT1, FGFR2, FGFR3
16chondroitin sulfate44 2410.5COMP, FGFR2, FGF2
17pyrimidine nucleoside449.5TK1, TKT
18glycosaminoglycan449.5COMP, FGFR2, FGF2
19imatinib44 50 1111.4FGFR3, TKT, STAT1, CBL
20dttp449.3TK1, TKT
21matrigel449.2FGF9, FGF2, STAT1, PTH1R
22rapamycin449.2FGFR2, TKT, STAT1, CBL
23stavudine44 1110.1TK1, TKT
24phosphotyrosine449.1CBL, STAT1, TKT, FGFR2, FGFR3
25agar449.1TKT, FGFR2, FGF3, FGF2
26bromodeoxyuridine449.0FGF2, FGFR2, TKT
27paraffin449.0TKT, FGFR2, FGF2, FGFR3
28genistein44 28 61 2 24 1114.0FGF2, FGFR2, TKT, STAT1
29ganciclovir44 119.9TK1, TKT, FGFR2, FGF2
30phosphoinositide448.9PTH1R, PARK2, CBL, STAT1
31nucleoside448.8TKT, TK1, PARK2
32lysine448.8PARK2, CBL, STAT1, FGFR2, FGFR3
33oligonucleotide448.6PARK2, STAT1, COMP, FGFR2, FGF3, FGFR3
34thymidine44 249.6PTH1R, TK1, TKT, FGFR2, FGF2
35steroid448.6PTH1R, PARK2, STAT1, COMP, FGFR2, FGF3
36nitric oxide44 24 1110.5PTH1R, PARK2, STAT1, TK1, FGFR2
37guanine44 24 1110.5PARK2, CBL, TKT, FGFR2, FGFR3
38threonine448.5PTH1R, PARK2, CBL, STAT1, FGFR2, FGFR3
39proline448.5PTH1R, PARK2, CBL, STAT1, COMP, FGFR2
40lipid448.4PARK2, CBL, STAT1, COMP, FGFR2, FGFR3
41Adenosine triphosphate24 119.4PARK2, CBL, TK1, FGFR2, FGFR3
42h2o2448.4PARK2, CBL, STAT1, FGFR2, FGF2
43glucose448.3FGFR2, COMP, STAT1, CBL, PARK2
44atp44 289.2PARK2, STAT1, TK1, TKT, FGFR2
45retinoic acid44 249.1PTH1R, CBL, STAT1, COMP, TKT, FGFR2
46vegf447.4PARK2, STAT1, TKT, FGFR2, FGF3, FGF2
47estrogen447.1PTH1R, PARK2, STAT1, TK1, TKT, FGFR2
48calcium44 50 24 1110.0PTH1R, PARK2, CBL, COMP, TK1, TKT
49serine446.8PTH1R, PARK2, CBL, STAT1, TK1, TKT
50tyrosine446.4FGF9, SPRY2, PARK2, CBL, STAT1, TK1

GO Terms for genes affiliated with Thanatophoric Dysplasia

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Cellular components related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.1FGF9, FGFR3, FGF2, FGF3, FGFR2, COMP
2nucleusGO:0056346.9PARK2, CBL, STAT1, TKT, FGFR2, FGF2
3cytosolGO:0058296.6SPRY2, PARK2, CBL, STAT1, TK1, TKT

Biological processes related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:01051810.2FGFR3, FGFR2
2lens fiber cell developmentGO:07030710.2FGFR2, FGFR3
3negative regulation of mitosisGO:04583910.2FGFR2, FGFR3
4otic vesicle formationGO:03091610.1FGFR2, FGF3
5bone morphogenesisGO:06034910.1FGFR3, FGFR2
6JAK-STAT cascadeGO:00725910.0FGFR3, STAT1
7lung-associated mesenchyme developmentGO:06048410.0FGF9, FGFR2
8skeletal system developmentGO:0015019.9PTH1R, COMP, FGFR3
9positive regulation of smooth muscle cell proliferationGO:0486619.9FGFR2, STAT1
10chondrocyte differentiationGO:0020629.9FGF9, FGFR3, PTH1R
11positive regulation of mesenchymal cell proliferationGO:0020539.9STAT1, FGFR2, FGF9
12positive regulation of canonical Wnt signaling pathwayGO:0902639.8FGFR2, FGFR3, FGF9
13positive regulation of MAPK cascadeGO:0434109.8FGF9, FGFR3, FGFR2
14digestive tract developmentGO:0485659.8TK1, FGFR2
15response to axon injuryGO:0486789.8FGF2, FGFR3
16bone mineralizationGO:0302829.8PTH1R, FGFR2
17organ inductionGO:0017599.7FGF2, FGF3
18inner ear morphogenesisGO:0424729.7FGF9, FGFR2, SPRY2
19positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.7FGFR3, FGF2
20substantia nigra developmentGO:0217629.6FGF2, FGFR3, FGF9
21organ morphogenesisGO:0098879.5FGF2, FGFR2, COMP
22cell-cell signalingGO:0072679.5FGF9, FGFR3, FGF3, FGFR2
23positive regulation of cardiac muscle cell proliferationGO:0600459.5FGF9, FGF2, FGFR2
24negative regulation of transcription from RNA polymerase II promoterGO:0001229.4STAT1, FGFR2, FGFR3, FGF9
25negative regulation of epidermal growth factor receptor signaling pathwayGO:0420599.3CBL, SPRY2
26positive regulation of ERK1 and ERK2 cascadeGO:0703749.3SPRY2, FGFR2, FGF2, FGFR3
27positive regulation of cell divisionGO:0517819.2FGFR2, FGF3, FGF2, FGF9
28negative regulation of cell deathGO:0605489.0PARK2, FGF2
29phosphatidylinositol-mediated signalingGO:0480158.9FGFR2, FGF3, FGF2, FGFR3, FGF9
30insulin receptor signaling pathwayGO:0082868.9FGF9, FGFR3, FGF2, FGF3, FGFR2
31Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR2, FGF3, FGF2, FGFR3, FGF9
32neurotrophin TRK receptor signaling pathwayGO:0480118.9FGF9, FGFR3, FGF2, FGF3, FGFR2
33innate immune responseGO:0450878.9FGFR2, FGF3, FGF2, FGFR3, FGF9
34positive regulation of cell proliferationGO:0082848.6PTH1R, FGFR2, FGF3, FGF2, FGFR3, FGF9
35fibroblast growth factor receptor signaling pathwayGO:0085438.1FGF9, SPRY2, CBL, FGFR2, FGF3, FGF2
36epidermal growth factor receptor signaling pathwayGO:0071738.1SPRY2, CBL, FGFR2, FGF3, FGF2, FGFR3

Molecular functions related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.6FGFR2, FGFR3
2fibroblast growth factor bindingGO:0171349.3FGFR3, FGF2, FGFR2
3fibroblast growth factor receptor bindingGO:0051049.2FGF9, FGF2, FGF3
4growth factor activityGO:0080839.1FGF9, FGF2, FGF3
5heparin bindingGO:0082018.8COMP, FGFR2, FGF2, FGF9
6protein bindingGO:0055156.3SPRY2, PTH1R, PARK2, CBL, STAT1, COMP

Products for genes affiliated with Thanatophoric Dysplasia

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Sources for Thanatophoric Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet