MCID: THN001
MIFTS: 56

Thanatophoric Dysplasia malady

Summaries for Thanatophoric Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Thanatophoric Dysplasia, also known as thanatophoric dwarfism, is related to achondroplasia and hypochondroplasia. An important gene associated with Thanatophoric Dysplasia is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are MAPK signaling pathway and Immune response Oncostatin M signaling via JAK-Stat in human cells. 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 nervous system and limbs/digits/tail.

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:63 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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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 46OMIM, 39NCIt, 34MeSH, 25ICD10
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Classifications:



Aliases & Descriptions:

thanatophoric dysplasia 8 63 19 42 20 21 10 44
thanatophoric dwarfism 42 21
dwarf, thanatophoric 63 21
thanatophoric dysplasia, type i 60
td - thanatophoric dwarfism 63
thanatophoric short stature 21
dwarfism thanatophoric 42


External Ids:

Disease Ontology8 DOID:13481
OMIM46 187600
NCIt39 C85187
SNOMED-CT56 29352008
MeSH34 D013796
ICD1025 Q77.1

Related Diseases for Thanatophoric Dysplasia

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17GeneCards, 18GeneDecks
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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 83)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.0COMP, FGFR2, FGF3, FGFR3, FGF9, PTH1R
2hypochondroplasia30.7FGFR2, FGF3, FGFR3, TK1
3acanthosis nigricans30.1FGFR2, FGFR3
4crouzon syndrome30.1FGF2, FGFR3, FGFR2
5dwarfism30.1COMP, STAT1, FGFR2, FGFR3, PTH1R
6bladder carcinoma30.1FGFR2, FGF3, FGFR3, FGF2, TKT
7thanatophoric dysplasia type 210.7
8thanatophoric dysplasia type 110.6
9thanatophoric dysplasia glasgow variant10.3
10achondrogenesis10.3
11cerebritis10.2
12osteogenesis imperfecta10.2
13platyspondylic lethal skeletal dysplasia torrance type10.2
14hypophosphatasia10.1
15chorioangioma10.1
16gilles de la tourette syndrome10.1
17syndactyly10.1
18spinal stenosis10.1
19fetal alcohol syndrome10.1
20holoprosencephaly10.1
21atherosclerosis10.1
22metaphyseal dysplasia10.1
23tardive dyskinesia10.1
24craniosynostosis 410.1
25osteochondroma10.0FGFR3
26hypercalcemia10.0PTH1R
27pseudohypoparathyroidism10.0PTH1R
28beare-stevenson cutis gyrata syndrome10.0FGFR2
29hyperparathyroidism10.0FGF3
30multiple epiphyseal dysplasia10.0COMP
31infectious mononucleosis10.0FGFR2, FGFR3
32saethre-chotzen syndrome10.0FGFR2, FGFR3
33ladd syndrome10.0FGFR2, FGFR3
34fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
35jackson-weiss syndrome10.0FGFR2, FGFR3
36muenke syndrome10.0FGFR2, FGFR3
37choriocarcinoma10.0FGFR2, STAT1
38acrocephalosyndactylia10.0FGFR3, FGFR2
39synovitis10.0COMP, STAT1
40osteochondrodysplasia10.0PTH1R, FGFR3, COMP
41deficiency anemia10.0TKT
42adenoma10.0FGF3
43myeloid leukemia10.0STAT1, CBL
44teratocarcinoma10.0FGF2, FGFR2
45ischemia10.0STAT1, FGF2
46sarcoma10.0STAT1, TKT
47colon cancer10.0TKT, STAT1
48arthritis10.0FGF2, STAT1, COMP
49thyroid cancer10.0TKT, FGFR2
50kaposi's sarcoma10.0FGFR2, FGF3, FGF2

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



Diseases related to thanatophoric dysplasia

Clinical Features for Thanatophoric Dysplasia

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46OMIM
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Clinical features from OMIM:

187600

Drugs & Therapeutics for Thanatophoric Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Thanatophoric Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Thanatophoric Dysplasia

Search CenterWatch for Thanatophoric Dysplasia

Genetic Tests for Thanatophoric Dysplasia

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Thanatophoric Dysplasia:

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

Animal Models for Thanatophoric Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Thanatophoric Dysplasia:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.3STAT1, FGFR2, FGF3, SPRY2
2MP:00053719.0SPRY2, FGF9, FGF3, CBL, COMP
3MP:00053778.9CBL, FGF3, FGFR3, FGF9, SPRY2
4MP:00053698.9COMP, FGF9, FGF2, PARK2
5MP:00020068.7STAT1, FGFR2, FGFR3, FGF2, SPRY2
6MP:00053828.6CBL, FGFR2, FGFR3, FGF9, PTH1R, SPRY2
7MP:00030128.6PARK2, FGFR3, FGF3, FGFR2, STAT1
8MP:00107718.6PARK2, FGF9, FGFR2, CBL
9MP:00053798.1CBL, FGFR2, TKT, TK1, SPRY2
10MP:00053888.0FGFR2, FGFR3, FGF9, TK1, PARK2, PTH1R
11MP:00053918.0STAT1, FGFR2, FGFR3, FGF9, FGF2, TKT
12MP:00053818.0STAT1, FGFR2, FGFR3, FGF9, TK1, PTH1R
13MP:00028737.9COMP, STAT1, FGFR2, FGF3, FGFR3, FGF9
14MP:00053707.8STAT1, CBL, FGFR2, TKT, TK1
15MP:00053907.3COMP, STAT1, CBL, FGFR2, FGF3, FGFR3
16MP:00053857.2STAT1, CBL, FGFR2, FGF9, FGF2, TKT
17MP:00053896.7CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
18MP:00053766.7STAT1, CBL, FGFR2, FGFR3, FGF9, FGF2
19MP:00053786.6COMP, STAT1, CBL, FGFR2, FGF3, FGFR3
20MP:00053865.9COMP, STAT1, CBL, FGFR2, FGF3, FGFR3
21MP:00107685.6FGFR3, FGF3, FGFR2, CBL, STAT1, FGF9

Publications for Thanatophoric Dysplasia

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50PubMed
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Articles related to Thanatophoric Dysplasia:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. (23573386)
2013
2
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. (23551494)
2013
3
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. (22106050)
2012
4
Disruption of a Sox9-I^-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. (22843502)
2012
5
Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression. (21155935)
2011
6
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis. (21671381)
2011
7
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. (22375084)
2010
8
Seborrhoeic keratoses and acanthosis nigricans in a long-term survivor of thanatophoric dysplasia. (20518778)
2010
9
Thanatophoric dysplasia: role of 3D sonography. (20489076)
2010
10
Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges. (20701518)
2010
11
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. (20357663)
2010
12
First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia. (20949643)
2010
13
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. (20704477)
2010
14
Thanatophoric dysplasia caused by double missense FGFR3 mutations. (19449430)
2009
15
Thanatophoric dysplasia: a case report and review of literature. (17883148)
2007
16
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
17
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. (15843401)
2005
18
Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report. (15067234)
2004
19
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
20
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. (14605823)
2003
21
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. (11851976)
2002
22
Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings. (12210587)
2002
23
Thanatophoric dysplasia type I. (11270184)
2001
24
Thanatophoric dysplasia. (11489235)
2001
25
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. (11241532)
2001
26
Thanatophoric dysplasia: ultrasound diagnosis. (12973064)
2001
27
Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. (11057021)
2000
28
Thanatophoric dysplasia. (11155884)
1999
29
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. (10405653)
1999
30
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. (9677066)
1998
31
Second trimester diagnosis of thanatophoric dysplasia. (8921645)
1996
32
Strawberry-shaped skull in fetal thanatophoric dysplasia. (12797155)
1994
33
Thanatophoric dysplasia. (7896342)
1994
34
Thanatophoric Dysplasia (20301540)
1993
35
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. (1308351)
1992
36
The role of the condylar cartilage in mandibular growth. A study in thanatophoric dysplasia. (1510046)
1992
37
Neural arch stenosis and spinal cord injury in thanatophoric dysplasia. (1985437)
1991
38
Thanatophoric dysplasia in identical twins. (2716037)
1989
39
Thanatophoric dysplasia: an autosomal dominant condition? (3239573)
1988
40
Abnormal ossification in thanatophoric dysplasia. (3132190)
1988
41
Thanatophoric dysplasia and cloverleaf skull. (3130852)
1987
42
The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management. (3301448)
1987
43
The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia. (4025393)
1985
44
Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis. (4073120)
1985
45
Early antenatal sonographic recognition of thanatophoric dysplasia with cloverleaf skull deformity. (6332495)
1984
46
Neuropathologic findings in thanatophoric dysplasia. (6464678)
1984
47
Antenatal sonographic findings of thanatophoric dysplasia with cloverleaf skull. (6881234)
1983
48
Antenatally diagnosed thanatophoric dysplasia. (6763446)
1982
49
Thanatophoric dysplasia of identical twins. (7197869)
1981
50
Antenatal sonographic diagnosis of thanatophoric dysplasia. (6772687)
1980

Genetic Variations for Thanatophoric Dysplasia

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Expression for genes affiliated with Thanatophoric Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thanatophoric Dysplasia

Search GEO for disease gene expression data for Thanatophoric Dysplasia.

Pathways for genes affiliated with Thanatophoric Dysplasia

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 12EMD Millipore, 4Cell Signaling Technology, 49PharmGKB, 51QIAGEN
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Pathways related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.7FGF9, FGFR2
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
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9.7STAT1, CBL
39.6PTH1R, FGFR3, STAT1
49.6FGFR2, FGF2
5
Hide members
9.6FGF2, SPRY2
69.4CBL, FGFR2, FGFR3
79.4FGFR2, FGFR3, FGF2
89.4FGF2, FGFR3, FGFR2
99.4FGF2, FGFR3, FGFR2
109.4SPRY2, CBL, STAT1
119.4SPRY2, CBL, STAT1
12
Hide members
9.4FGFR2, FGF3, FGF9
13
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9.3FGF2, FGF3, FGFR2
14
Hide members
9.1STAT1, FGFR2, FGFR3, FGF2
159.1STAT1, CBL, FGFR2, SPRY2
16
Hide members
8.9CBL, FGFR2, FGFR3, FGF2
178.7FGF2, FGF9, FGF3, CBL
18
Hide members
8.7CBL, FGFR2, FGF3, FGFR3, FGF9
19
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8.6STAT1, CBL, FGFR2, FGFR3, FGF2
20
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8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
21
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8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
22
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8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
23
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8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
24
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8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
258.3COMP, FGFR2, FGF3, FGFR3, FGF9, FGF2
26
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8.3FGF2, FGF9, FGFR3, FGF3, FGFR2, STAT1
27
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8.3STAT1, FGFR2, FGF3, FGFR3, FGF9, FGF2
28
Development FGF-family signaling
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8.1CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
29
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8.1CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
30
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7.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
31
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7.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
327.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
33
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7.8CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
34
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7.5STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
357.5STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
36
Hide members
7.2STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9

Compounds for genes affiliated with Thanatophoric Dysplasia

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1pd 1615705910.3FGFR2, FGFR3
2fiin 1 hydrochloride5910.3FGFR2, FGFR3
3su 54025910.3FGFR2, FGFR3
4palifermin44 1111.2FGFR3, FGFR2
5estrogen4410.1TK1
6sucrose octasulfate44 1111.0FGF2, FGFR2
7su5402449.8FGFR2, FGFR3, FGF2
8pd 17307444 5910.8FGF2, FGFR3, FGFR2
9thalidomide44 49 59 1112.7FGF2, FGFR3, FGFR2
10chondroitin sulfate44 2410.7COMP, FGFR2, FGF2
11sulfate44 2410.6COMP, FGFR2, FGFR3
12glycosaminoglycan449.6FGF2, FGFR2, COMP
13vitamin d449.6COMP, STAT1, FGFR2, PTH1R
14piceatannol44 59 1111.6TKT, CBL, STAT1
15phenylalanine449.5STAT1, CBL, FGFR2, FGFR3
16bvdu449.5TK1, TKT
17deoxynucleoside449.5TK1, TKT
18pyrimidine nucleoside449.4TK1, TKT
19imatinib44 49 1111.3STAT1, CBL, FGFR3, TKT
20matrigel449.3STAT1, FGF9, FGF2, PTH1R
21stavudine44 1110.3TK1, TKT
22dttp449.2TK1, TKT
23rapamycin449.2TKT, FGFR2, CBL, STAT1
24agar449.1FGFR2, FGF3, FGF2, TKT
25paraffin449.1FGFR2, FGFR3, FGF2, TKT
26phosphoinositide449.1STAT1, CBL, PARK2, PTH1R
27phosphotyrosine449.1STAT1, CBL, FGFR2, FGFR3, TKT
28bromodeoxyuridine449.0TKT, FGF2, FGFR2
29genistein44 28 59 2 11 2414.0STAT1, FGFR2, FGF2, TKT
30lysine448.9STAT1, CBL, FGFR2, FGFR3, PARK2
31herbimycin a44 599.8STAT1, FGF2, TKT
32oligonucleotide448.8COMP, STAT1, FGFR2, FGF3, FGFR3, PARK2
33guanine44 11 2410.7CBL, FGFR2, FGFR3, TKT, PARK2
34nitric oxide44 11 2410.7STAT1, TK1, PARK2, PTH1R
35steroid448.7COMP, STAT1, FGFR2, FGF3, PARK2, PTH1R
36ganciclovir44 119.7TK1, TKT, FGF2, FGFR2
37nucleoside448.7PARK2, TK1, TKT
38proline448.7COMP, STAT1, CBL, FGFR2, PARK2, PTH1R
39threonine448.6STAT1, CBL, FGFR2, FGFR3, PARK2, PTH1R
40h2o2448.6STAT1, CBL, FGFR2, FGF2, PARK2
41lipid448.6COMP, STAT1, CBL, FGFR2, FGFR3, PARK2
42thymidine44 249.4FGFR2, FGF2, TKT, TK1, PTH1R
43serine448.3STAT1, CBL, FGFR3, FGF2, TK1, PTH1R
44retinoic acid44 249.2COMP, STAT1, CBL, FGFR2, FGF2, TKT
45cysteine448.2COMP, STAT1, CBL, FGFR2, FGFR3, TKT
46Adenosine triphosphate11 249.1CBL, FGFR2, FGFR3, TK1, PARK2
47atp44 288.9PARK2, TK1, TKT, FGFR2, STAT1
48vegf447.6STAT1, FGFR2, FGF3, FGFR3, FGF9, FGF2
49calcium44 49 11 249.9COMP, CBL, FGFR2, FGFR3, FGF9, TKT
50tyrosine446.4SPRY2, STAT1, CBL, FGFR2, FGFR3, FGF9

GO Terms for genes affiliated with Thanatophoric Dysplasia

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16Gene Ontology
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Cellular components related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.0FGF2, FGF9, FGFR3, FGF3, FGFR2, COMP
2cytosolGO:0058296.9CBL, FGF2, TKT, TK1, PARK2, SPRY2

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:01051810.2FGFR2, FGFR3
2negative regulation of mitosisGO:04583910.2FGFR2, FGFR3
3lens fiber cell developmentGO:07030710.2FGFR3, FGFR2
4otic vesicle formationGO:03091610.1FGF3, FGFR2
5substantia nigra developmentGO:02176210.1FGFR3, FGF2
6bone morphogenesisGO:06034910.1FGFR3, FGFR2
7lung-associated mesenchyme developmentGO:06048410.0FGF9, FGFR2
8JAK-STAT cascadeGO:0072599.9STAT1, FGFR3
9chondrocyte differentiationGO:0020629.9PTH1R, FGF9, FGFR3
10skeletal system developmentGO:0015019.8PTH1R, FGFR3, COMP
11positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.8FGF9, FGFR3, FGFR2
12positive regulation of MAPK cascadeGO:0434109.8FGF9, FGFR3, FGFR2
13positive regulation of mesenchymal cell proliferationGO:0020539.8FGF9, FGFR2, STAT1
14organ inductionGO:0017599.8FGF3, FGF2
15inner ear morphogenesisGO:0424729.7FGFR2, FGF9, SPRY2
16positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.7FGF2, FGFR3
17organ morphogenesisGO:0098879.6COMP, FGFR2, FGF2
18positive regulation of cardiac muscle cell proliferationGO:0600459.6FGF2, FGF9, FGFR2
19positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR2, FGFR3, FGF2, SPRY2
20response to axon injuryGO:0486789.4FGFR3, FGF2
21digestive tract developmentGO:0485659.4TK1, FGFR2
22negative regulation of apoptotic processGO:0430669.3COMP, CBL, FGFR3, SPRY2
23positive regulation of cell divisionGO:0517819.2FGFR2, FGF3, FGF9, FGF2
24negative regulation of cell deathGO:0605489.2PARK2, FGF2
25negative regulation of cell proliferationGO:0082859.2SPRY2, PTH1R, FGF2, FGFR2
26phosphatidylinositol-mediated signalingGO:0480159.0FGFR2, FGF3, FGFR3, FGF9, FGF2
27insulin receptor signaling pathwayGO:0082869.0FGF2, FGF9, FGFR3, FGF3, FGFR2
28Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGF3, FGFR3, FGF9, FGF2
29neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR2, FGF3, FGFR3, FGF9, FGF2
30innate immune responseGO:0450878.9FGF2, FGF9, FGFR3, FGF3, FGFR2
31positive regulation of cell proliferationGO:0082848.7FGFR2, FGF3, FGFR3, FGF9, FGF2, PTH1R
32fibroblast growth factor receptor signaling pathwayGO:0085438.2SPRY2, CBL, FGFR2, FGF3, FGFR3, FGF9
33epidermal growth factor receptor signaling pathwayGO:0071738.2CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.8FGFR3, FGFR2
2fibroblast growth factor bindingGO:0171349.5FGF2, FGFR3, FGFR2
3fibroblast growth factor receptor bindingGO:0051049.2FGF2, FGF9, FGF3
4growth factor activityGO:0080839.2FGF2, FGF9, FGF3
5heparin bindingGO:0082019.0COMP, FGFR2, FGF9, FGF2
6identical protein bindingGO:0428028.1STAT1, FGFR2, TK1, PARK2

Products for genes affiliated with Thanatophoric Dysplasia

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet