MCID: THN001
MIFTS: 53

Thanatophoric Dysplasia malady

Summaries for Thanatophoric Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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, spinal cord and brain, 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:64 Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small... more...

Description from OMIM:47 187600

GeneReviews summary for td

Aliases & Classifications for Thanatophoric Dysplasia

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 47OMIM, 40NCIt, 35MeSH, 25ICD10
See all sources

Classifications:



Aliases & Descriptions:

thanatophoric dysplasia 8 64 19 43 20 21 10 45
thanatophoric dwarfism 43 21
dwarf, thanatophoric 64 21
thanatophoric dysplasia, type i 61
td - thanatophoric dwarfism 64
thanatophoric short stature 21
dwarfism thanatophoric 43


External Ids:

Disease Ontology8 DOID:13481
OMIM47 187600
NCIt40 C85187
SNOMED-CT57 29352008
MeSH35 D013796
ICD1025 Q77.1

Related Diseases for Thanatophoric Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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 90)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.0COMP, FGFR2, FGF3, FGFR3, FGF9, PTH1R
2hypochondroplasia30.7FGFR2, FGF3, FGFR3, TK1
3skeletal dysplasias30.3COMP, STAT1, FGFR2, FGFR3, PTH1R
4acanthosis nigricans30.1FGFR2, FGFR3
5crouzon syndrome30.1FGF2, FGFR3, FGFR2
6dwarfism30.1COMP, STAT1, FGFR2, FGFR3, PTH1R
7bladder carcinoma30.1FGFR2, FGF3, FGFR3, FGF2, TKT
8thanatophoric dysplasia type 210.7
9thanatophoric dysplasia type 110.6
10encephalocele10.3
11thanatophoric dysplasia glasgow variant10.3
12achondrogenesis10.3
13osteogenesis imperfecta10.2
14platyspondylic lethal skeletal dysplasia torrance type10.2
15megalencephaly10.2
16hypophosphatasia10.1
17chorioangioma10.1
18gilles de la tourette syndrome10.1
19syndactyly10.1
20spinal stenosis10.1
21fetal alcohol syndrome10.1
22holoprosencephaly10.1
23atherosclerosis10.1
24osteogenesis imperfecta type i10.1
25corpus callosum agenesis10.1
26tardive dyskinesia10.1
27spinal cord injury10.1
28renal dysplasia, cystic10.1
29craniosynostosis 410.1
30semilobar holoprosencephaly10.1
31renal dysplasia10.1
32bilateral renal dysplasia10.1
33osteochondroma10.0FGFR3
34hypercalcemia10.0PTH1R
35pseudohypoparathyroidism10.0PTH1R
36beare-stevenson cutis gyrata syndrome10.0FGFR2
37hyperparathyroidism10.0FGF3
38multiple epiphyseal dysplasia10.0COMP
39infectious mononucleosis10.0FGFR2, FGFR3
40saethre-chotzen syndrome10.0FGFR2, FGFR3
41ladd syndrome10.0FGFR2, FGFR3
42fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3
43jackson-weiss syndrome10.0FGFR2, FGFR3
44muenke syndrome10.0FGFR2, FGFR3
45choriocarcinoma10.0FGFR2, STAT1
46acrocephalosyndactylia10.0FGFR3, FGFR2
47synovitis10.0COMP, STAT1
48osteochondrodysplasia10.0PTH1R, FGFR3, COMP
49deficiency anemia10.0TKT
50adenoma10.0FGF3

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



Diseases related to thanatophoric dysplasia

Clinical Features for Thanatophoric Dysplasia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

187600

Drugs & Therapeutics for Thanatophoric Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Thanatophoric Dysplasia

Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia

Search NIH Clinical Center for Thanatophoric Dysplasia

Search CenterWatch for Thanatophoric Dysplasia

Genetic Tests for Thanatophoric Dysplasia

Sources:
20GeneTests
See all sources

Genetic tests related to Thanatophoric Dysplasia:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia20 FGFR3

Anatomical Context for Thanatophoric Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Thanatophoric Dysplasia:

33
Skin, Spinal cord, Brain, Lung, Cortex, T cells, Fetal brain, Temporal lobe, Occipital lobe

Animal Models for Thanatophoric Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Thanatophoric Dysplasia:

37 (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

Sources:
51PubMed
See all sources

Articles related to Thanatophoric Dysplasia:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. (23408600)
2013
2
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. (22734441)
2012
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
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. (22634226)
2012
6
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
7
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. (20034074)
2010
8
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. (21253318)
2010
9
Seborrhoeic keratoses and acanthosis nigricans in a long-term survivor of thanatophoric dysplasia. (20518778)
2010
10
Thanatophoric dysplasia: role of 3D sonography. (20489076)
2010
11
Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. (20499057)
2010
12
Thanatophoric dysplasia caused by double missense FGFR3 mutations. (19449430)
2009
13
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. (18987480)
2008
14
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. (18698630)
2008
15
Common arterial trunk with thanatophoric dysplasia: a unique case. (19065323)
2008
16
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. (16752380)
2006
17
The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. (16133544)
2005
18
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. (15843401)
2005
19
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
20
A central nervous system specific mouse model for thanatophoric dysplasia type II. (12966031)
2003
21
Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia. (12566756)
2002
22
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. (12001196)
2002
23
Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings. (12210587)
2002
24
Thanatophoric dysplasia type I. (11270184)
2001
25
Thanatophoric dysplasia. (11489235)
2001
26
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. (11241532)
2001
27
Thanatophoric dysplasia: ultrasound diagnosis. (12973064)
2001
28
Review of the diagnosis and transmission of thanatophoric dysplasia and report of a familial case with three affected siblings. (15512652)
2000
29
Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. (10890204)
2000
30
Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. (11057021)
2000
31
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. (10910625)
1999
32
Thanatophoric dysplasia. (11155884)
1999
33
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type. (9799297)
1998
34
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. (10671061)
1998
35
Long-term survival in typical thanatophoric dysplasia type 1. (9182787)
1997
36
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys) (9215781)
1997
37
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. (8723102)
1996
38
Second trimester diagnosis of thanatophoric dysplasia. (8921645)
1996
39
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
40
Thanatophoric Dysplasia (20301540)
1993
41
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. (8418654)
1993
42
Neural arch stenosis and spinal cord injury in thanatophoric dysplasia. (1985437)
1991
43
Thanatophoric dysplasia in identical twins. (2716037)
1989
44
Growth and development in thanatophoric dysplasia. (2596513)
1989
45
Thanatophoric dysplasia: an autosomal dominant condition? (3239573)
1988
46
Thanatophoric dysplasia and cloverleaf skull. (3130852)
1987
47
Prenatal diagnosis of thanatophoric dysplasia at 24 weeks. (6741994)
1984
48
Discordance for the KleeblattschAodel anomaly in monozygotic twins with thanatophoric dysplasia. (6683076)
1983
49
Antenatal sonographic findings of thanatophoric dysplasia with cloverleaf skull. (6881234)
1983
50
Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature. (7182189)
1982

Genetic Variations for Thanatophoric Dysplasia

Expression for genes affiliated with Thanatophoric Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 12EMD Millipore, 4Cell Signaling Technology, 50PharmGKB, 52QIAGEN
See all sources

Pathways related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7FGF9, FGFR2
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
Hide members
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
Hide members
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
Hide members
8.6STAT1, CBL, FGFR2, FGFR3, FGF2
20
Hide members
8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
21
Hide members
8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
22
Hide members
8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
23
Hide members
8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
24
Hide members
8.6FGFR2, FGF3, FGFR3, FGF9, FGF2
258.3COMP, FGFR2, FGF3, FGFR3, FGF9, FGF2
26
Hide members
8.3FGF2, FGF9, FGFR3, FGF3, FGFR2, STAT1
27
Hide members
8.3STAT1, FGFR2, FGF3, FGFR3, FGF9, FGF2
28
Development FGF-family signaling
Hide members
8.1CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
29
Hide members
8.1CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
30
Hide members
7.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
31
Hide members
7.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
327.8STAT1, CBL, FGFR2, FGF3, FGFR3, FGF9
33
Hide members
7.8CBL, FGFR2, FGF3, FGFR3, FGF9, FGF2
34
Hide members
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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Thanatophoric Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1pd 1615706010.3FGFR2, FGFR3
2fiin 1 hydrochloride6010.3FGFR2, FGFR3
3su 54026010.3FGFR2, FGFR3
4palifermin45 1111.2FGFR3, FGFR2
5estrogen4510.1TK1
6sucrose octasulfate45 1111.0FGF2, FGFR2
7su5402459.8FGFR2, FGFR3, FGF2
8pd 17307445 6010.8FGF2, FGFR3, FGFR2
9thalidomide45 50 60 1112.7FGF2, FGFR3, FGFR2
10chondroitin sulfate45 2410.7COMP, FGFR2, FGF2
11sulfate45 2410.6COMP, FGFR2, FGFR3
12glycosaminoglycan459.6FGF2, FGFR2, COMP
13vitamin d459.6COMP, STAT1, FGFR2, PTH1R
14piceatannol45 60 1111.6TKT, CBL, STAT1
15phenylalanine459.5STAT1, CBL, FGFR2, FGFR3
16bvdu459.5TK1, TKT
17deoxynucleoside459.5TK1, TKT
18pyrimidine nucleoside459.4TK1, TKT
19imatinib45 50 1111.3STAT1, CBL, FGFR3, TKT
20matrigel459.3STAT1, FGF9, FGF2, PTH1R
21stavudine45 1110.3TK1, TKT
22dttp459.2TK1, TKT
23rapamycin459.2TKT, FGFR2, CBL, STAT1
24agar459.1FGFR2, FGF3, FGF2, TKT
25paraffin459.1FGFR2, FGFR3, FGF2, TKT
26phosphoinositide459.1STAT1, CBL, PARK2, PTH1R
27phosphotyrosine459.1STAT1, CBL, FGFR2, FGFR3, TKT
28bromodeoxyuridine459.0TKT, FGF2, FGFR2
29genistein45 29 60 2 11 2414.0STAT1, FGFR2, FGF2, TKT
30lysine458.9STAT1, CBL, FGFR2, FGFR3, PARK2
31herbimycin a45 609.8STAT1, FGF2, TKT
32oligonucleotide458.8COMP, STAT1, FGFR2, FGF3, FGFR3, PARK2
33guanine45 11 2410.7CBL, FGFR2, FGFR3, TKT, PARK2
34nitric oxide45 11 2410.7STAT1, TK1, PARK2, PTH1R
35steroid458.7COMP, STAT1, FGFR2, FGF3, PARK2, PTH1R
36ganciclovir45 119.7TK1, TKT, FGF2, FGFR2
37nucleoside458.7PARK2, TK1, TKT
38proline458.7COMP, STAT1, CBL, FGFR2, PARK2, PTH1R
39threonine458.6STAT1, CBL, FGFR2, FGFR3, PARK2, PTH1R
40h2o2458.6STAT1, CBL, FGFR2, FGF2, PARK2
41lipid458.6COMP, STAT1, CBL, FGFR2, FGFR3, PARK2
42thymidine45 249.4FGFR2, FGF2, TKT, TK1, PTH1R
43serine458.3STAT1, CBL, FGFR3, FGF2, TK1, PTH1R
44retinoic acid45 249.2COMP, STAT1, CBL, FGFR2, FGF2, TKT
45cysteine458.2COMP, STAT1, CBL, FGFR2, FGFR3, TKT
46Adenosine triphosphate11 249.1CBL, FGFR2, FGFR3, TK1, PARK2
47atp45 298.9PARK2, TK1, TKT, FGFR2, STAT1
48vegf457.6STAT1, FGFR2, FGF3, FGFR3, FGF9, FGF2
49calcium45 50 11 249.9COMP, CBL, FGFR2, FGFR3, FGF9, TKT
50tyrosine456.4SPRY2, STAT1, CBL, FGFR2, FGFR3, FGF9

GO Terms for genes affiliated with Thanatophoric Dysplasia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet