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:

Search ClinicalTrials for Thanatophoric Dysplasia

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, Cortex, Spinal cord, 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
Thanatophoric dysplasia: autopsy findings over a 25-year period. (23323754)
2013
2
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
3
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation. (24038754)
2013
4
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. (22734441)
2012
5
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. (22414243)
2012
6
Thanatophoric dysplasia, type I. (22643294)
2012
7
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD. (23569503)
2012
8
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. (22634226)
2012
9
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
10
Thanatophoric dysplasia: a rare entity. (22043415)
2011
11
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis. (20569165)
2011
12
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. (21253318)
2010
13
Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. (20499057)
2010
14
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. (19752524)
2009
15
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. (19340824)
2009
16
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. (18987480)
2008
17
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. (18698630)
2008
18
Congenital atherosclerosis in a newborn with thanatophoric dysplasia. (18176014)
2007
19
Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I. (17962111)
2007
20
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. (16752380)
2006
21
The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. (16133544)
2005
22
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
23
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. (12833394)
2003
24
A central nervous system specific mouse model for thanatophoric dysplasia type II. (12966031)
2003
25
Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia. (12633765)
2003
26
Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia. (12566756)
2002
27
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. (12001196)
2002
28
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
29
Autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain. (11666020)
2001
30
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. (10910625)
1999
31
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. (10482885)
1999
32
Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. (9481650)
1998
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
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. (9302269)
1997
36
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. (9069288)
1997
37
Long-term survival in typical thanatophoric dysplasia type 1. (9182787)
1997
38
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
39
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. (8723102)
1996
40
In vitro studies on clonal growth of chondrocytes in thanatophoric dysplasia. (8725794)
1996
41
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. (9055906)
1996
42
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. (8588588)
1995
43
Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. (8418654)
1993
44
Thanatophoric dysplasia in identical twins. (2585471)
1989
45
A boy with thanatophoric dysplasia surviving 212 days. (3436092)
1987
46
Thanatophoric dysplasia. (6430028)
1984
47
Thanatophoric dysplasia of identical twins. (6538757)
1984
48
Thanatophoric dysplasia with cloverleaf skull. (6351595)
1983
49
Discordance for the KleeblattschAodel anomaly in monozygotic twins with thanatophoric dysplasia. (6683076)
1983
50
Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature. (7182189)
1982

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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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
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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
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9.1STAT1, FGFR2, FGFR3, FGF2
159.1STAT1, CBL, FGFR2, SPRY2
16
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8.9CBL, FGFR2, FGFR3, FGF2
178.7FGF2, FGF9, FGF3, CBL
18
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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
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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 1615705910.3FGFR3, FGFR2
2fiin 1 hydrochloride5910.3FGFR2, FGFR3
3su 54025910.3FGFR3, FGFR2
4palifermin44 1111.2FGFR3, FGFR2
5estrogen4410.1TK1
6sucrose octasulfate44 1111.0FGFR2, FGF2
7su5402449.8FGFR3, FGFR2, FGF2
8pd 17307444 5910.8FGF2, FGFR3, FGFR2
9thalidomide44 49 59 1112.7FGF2, FGFR3, FGFR2
10chondroitin sulfate44 2410.7FGF2, FGFR2, COMP
11glycosaminoglycan449.6FGFR2, COMP, FGF2
12sulfate44 2410.6COMP, FGFR2, FGFR3
13vitamin d449.6COMP, STAT1, PTH1R, FGFR2
14piceatannol44 59 1111.6CBL, STAT1, TKT
15phenylalanine449.5FGFR3, FGFR2, CBL, STAT1
16bvdu449.5TK1, TKT
17deoxynucleoside449.5TKT, TK1
18pyrimidine nucleoside449.4TKT, TK1
19imatinib44 49 1111.3STAT1, CBL, FGFR3, TKT
20matrigel449.3PTH1R, STAT1, FGF2, FGF9
21stavudine44 1110.3TKT, TK1
22dttp449.2TKT, TK1
23rapamycin449.2TKT, STAT1, CBL, FGFR2
24agar449.1TKT, FGF2, FGF3, FGFR2
25paraffin449.1TKT, FGF2, FGFR3, FGFR2
26phosphoinositide449.1PTH1R, CBL, STAT1, PARK2
27phosphotyrosine449.1TKT, STAT1, FGFR2, CBL, FGFR3
28bromodeoxyuridine449.0FGF2, FGFR2, TKT
29genistein44 28 59 2 11 2414.0FGFR2, TKT, FGF2, STAT1
30lysine448.9FGFR3, PARK2, FGFR2, STAT1, CBL
31herbimycin a44 599.8TKT, FGF2, STAT1
32oligonucleotide448.8FGF3, PARK2, COMP, STAT1, FGFR2, FGFR3
33guanine44 11 2410.7FGFR2, FGFR3, TKT, PARK2, CBL
34nitric oxide44 11 2410.7PTH1R, PARK2, STAT1, TK1
35steroid448.7COMP, STAT1, FGFR2, FGF3, PARK2, PTH1R
36ganciclovir44 119.7FGF2, TKT, FGFR2, TK1
37nucleoside448.7TKT, TK1, PARK2
38proline448.7COMP, PTH1R, PARK2, FGFR2, STAT1, CBL
39threonine448.6FGFR2, PTH1R, PARK2, FGFR3, STAT1, CBL
40h2o2448.6STAT1, CBL, FGF2, FGFR2, PARK2
41lipid448.6STAT1, PARK2, FGFR3, COMP, CBL, FGFR2
42thymidine44 249.4TK1, PTH1R, TKT, FGF2, FGFR2
43serine448.3FGF2, TK1, STAT1, CBL, FGFR3, PTH1R
44retinoic acid44 249.2FGFR2, CBL, STAT1, FGF2, COMP, TKT
45cysteine448.2TKT, FGFR3, STAT1, COMP, CBL, FGFR2
46Adenosine triphosphate11 249.1PARK2, TK1, FGFR3, FGFR2, CBL
47atp44 288.9PARK2, TK1, FGFR2, STAT1, TKT
48vegf447.6FGFR2, FGF3, FGFR3, FGF9, FGF2, TKT
49calcium44 49 11 249.9COMP, TK1, CBL, FGFR2, FGFR3, PTH1R
50tyrosine446.4STAT1, CBL, FGF9, FGFR2, FGFR3, FGF2

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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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