MCID: THN009
MIFTS: 62

Thanatophoric Dysplasia, Type I malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Thanatophoric Dysplasia, Type I

About this section


NIH Rare Diseases:41 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, Type I, also known as thanatophoric dysplasia, is related to achondroplasia and dwarfism, and has symptoms including macrocephaly, malar flattening and small face. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Alzheimers Disease Pathway and Angiogenesis. The compounds pd 161570 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:9 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.

OMIM:45 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187600) more...

Wikipedia:63 Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small... more...

GeneReviews summary for td

Aliases & Classifications for Thanatophoric Dysplasia, Type I

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Thanatophoric Dysplasia, Type I, Aliases & Descriptions:

Name: Thanatophoric Dysplasia, Type I 45 10 60
Thanatophoric Dysplasia 9 63 19 41 20 21 11 43 47
Thanatophoric Dysplasia Type I 41 20 22
Thanatophoric Dwarfism 41 21 47
Thanatophoric Dysplasia Type 1 41 47
Thanatophoric Dwarfism Type 1 41 47
Dwarf, Thanatophoric 63 21
 
Td1 41 47
Td 41 47
Td - Thanatophoric Dwarfism 63
Thanatophoric Short Stature 21
Thanatophoric Dwarfism 1 41
Dwarfism Thanatophoric 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
thanatophoric dysplasia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood
thanatophoric dysplasia type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: stillbirth


External Ids:

OMIM45 187600
Disease Ontology9 DOID:13481
NCIt38 C85187
MeSH33 D013796
SNOMED-CT55 29352008
Orphanet47 2655, 1860
ICD10 via Orphanet26 Q77.1
UMLS via Orphanet61 C0039743, C2931282
ICD1025 Q77.1

Related Diseases for Thanatophoric Dysplasia, Type I

About this section

Diseases in the Thanatophoric Dysplasia, Type I family:

Thanatophoric Dysplasia, Type Ii

Diseases related to Thanatophoric Dysplasia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia30.5FGFR2, FGFR3
2dwarfism30.5FGFR3, FGFR2
3syndactyly30.4FGFR2, FGFR3
4crouzon syndrome30.3FGFR3, FGFR2
5acanthosis nigricans30.3FGFR3, FGFR2
6hypochondroplasia30.2FGFR3, TK1, FGFR2
7thanatophoric dysplasia, type ii10.8
8thanatophoric dysplasia glasgow variant10.5
9encephalocele10.4
10achondrogenesis10.3
11skeletal dysplasias10.3
12cerebritis10.3
13osteogenesis imperfecta10.3
14micromelic bone dysplasia with cloverleaf skull10.3
15skeletal dysplasia, san diego type10.3
16beare-stevenson cutis gyrata syndrome10.3FGFR2
17hypophosphatasia10.2
18osteogenesis imperfecta, type ii10.1
19platyspondylic skeletal dysplasia, torrance type10.1
20atherosclerosis10.1
21holoprosencephaly10.1
22hydrocephalus10.1
23spinal cord injury10.1
24chorioangioma10.1
25choroiditis10.1
26saddan10.1
27agenesis of the corpus callosum10.1
28semilobar holoprosencephaly10.1
29renal dysplasia10.1
30papilloma10.1PARK2, FGFR3
31saethre-chotzen syndrome10.1FGFR3, FGFR2
32fgfr-related craniosynostosis syndromes10.1FGFR3, FGFR2
33jackson-weiss syndrome10.1FGFR3, FGFR2
34muenke syndrome10.1FGFR3, FGFR2
35ladd syndrome10.1FGFR3, FGFR2
36pfeiffer syndrome10.1FGFR2, FGFR3
37apert syndrome10.1FGFR2, FGFR3
38strabismus10.0FGFR3, FGFR2
39acrocephalosyndactylia10.0FGFR2, FGFR3
40synostosis10.0FGFR2, FGFR3
41skeletal dysplasia multi-gene panels10.0FGFR3, FGFR2
42craniosynostosis10.0FGFR3, FGFR2
43developmental disabilities10.0FGFR3, FGFR2
44chondrosarcoma9.9FGFR2, FGFR3
45transitional cell carcinoma9.9FGFR3, FGFR2
46skin disease9.9FGFR2, FGFR3
47retinoblastoma9.8PARK2, FGFR3, FGFR2
48herpes simplex9.8FGFR2, PARK2, TK1
49bladder cancer, somatic9.8FGFR3, FGFR2
50colorectal cancer9.7TK1, FGFR2, FGFR3

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



Diseases related to thanatophoric dysplasia, type i

Symptoms for Thanatophoric Dysplasia, Type I

About this section

Symptoms by clinical synopsis from OMIM:

187600

Clinical features from OMIM:

187600

Symptoms:

 47 (show all 49)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • flat face
  • depressed nasal bridge
  • narrow rib cage/thorax
  • short rib cage/thorax
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • rhizomelic micromelia
  • loose skin/skin relaxation/excess skin/creases
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • increased nuchal translucency
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • hearing loss/hypoacusia/deafness
  • short hand/brachydactyly
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • low set ears/posteriorly rotated ears
  • kyphosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacroiliac joints anomalies
  • acanthosis nigricans
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • renal/kidney anomalies
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • polyhydramnios
  • small face
  • trident hand/split hand/abnormal median ray
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • hypotonia
  • bowed diaphysis/diaphyses/long bones
  • rippled skin
  • cloverleaf skull

HPO human phenotypes related to Thanatophoric Dysplasia, Type I:

(show all 74)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 small face hallmark (90%) HP:0000274
4 narrow chest hallmark (90%) HP:0000774
5 platyspondyly hallmark (90%) HP:0000926
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 cutis laxa hallmark (90%) HP:0000973
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 split hand hallmark (90%) HP:0001171
10 muscular hypotonia hallmark (90%) HP:0001252
11 respiratory insufficiency hallmark (90%) HP:0002093
12 skeletal dysplasia hallmark (90%) HP:0002652
13 abnormality of the femur hallmark (90%) HP:0002823
14 micromelia hallmark (90%) HP:0002983
15 short stature hallmark (90%) HP:0004322
16 depressed nasal bridge hallmark (90%) HP:0005280
17 bowing of the long bones hallmark (90%) HP:0006487
18 short thorax hallmark (90%) HP:0010306
19 cognitive impairment hallmark (90%) HP:0100543
20 abnormality of the sacroiliac joint hallmark (90%) HP:0100781
21 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
22 increased nuchal translucency hallmark (90%) HP:0010880
23 hearing impairment typical (50%) HP:0000365
24 proptosis typical (50%) HP:0000520
25 polyhydramnios typical (50%) HP:0001561
26 frontal bossing typical (50%) HP:0002007
27 ventriculomegaly typical (50%) HP:0002119
28 kyphosis typical (50%) HP:0002808
29 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
30 increased nuchal translucency typical (50%) HP:0010880
31 malar flattening typical (50%) HP:0000272
32 brachydactyly syndrome typical (50%) HP:0001156
33 intrauterine growth retardation typical (50%) HP:0001511
34 abnormality of neuronal migration typical (50%) HP:0002269
35 abnormality of the kidney occasional (7.5%) HP:0000077
36 hydrocephalus occasional (7.5%) HP:0000238
37 acanthosis nigricans occasional (7.5%) HP:0000956
38 seizures occasional (7.5%) HP:0001250
39 limitation of joint mobility occasional (7.5%) HP:0001376
40 defect in the atrial septum occasional (7.5%) HP:0001631
41 patent ductus arteriosus occasional (7.5%) HP:0001643
42 abnormality of neuronal migration occasional (7.5%) HP:0002269
43 cloverleaf skull occasional (7.5%) HP:0002676
44 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
45 downslanted palpebral fissures occasional (7.5%) HP:0000494
46 joint hypermobility occasional (7.5%) HP:0001382
47 polyhydramnios occasional (7.5%) HP:0001561
48 respiratory insufficiency occasional (7.5%) HP:0002093
49 kyphosis occasional (7.5%) HP:0002808
50 abnormality of the sacroiliac joint occasional (7.5%) HP:0100781
51 autosomal dominant inheritance HP:0000006
52 hydrocephalus HP:0000238
53 macrocephaly HP:0000256
54 small face HP:0000274
55 short ribs HP:0000773
56 narrow chest HP:0000774
57 wide-cupped costochondral junctions HP:0000910
58 flared irregular metaphyses HP:0000945
59 hypoplastic ilia HP:0000946
60 muscular hypotonia HP:0001252
61 decreased fetal movement HP:0001558
62 polyhydramnios HP:0001561
63 frontal bossing HP:0002007
64 respiratory insufficiency HP:0002093
65 intellectual disability, profound HP:0002187
66 heterotopia HP:0002282
67 cloverleaf skull HP:0002676
68 small foramen magnum HP:0002677
69 short long bones HP:0003026
70 small sacroiliac notches HP:0003185
71 severe platyspondyly HP:0004565
72 bowing of the long bones HP:0006487
73 small abnormally formed scapulae HP:0006584
74 lethal short-limbed short stature HP:0008909

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

About this section

Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia, Type I

Search NIH Clinical Center for Thanatophoric Dysplasia, Type I

Genetic Tests for Thanatophoric Dysplasia, Type I

About this section

Genetic tests related to Thanatophoric Dysplasia, Type I:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia20 FGFR3
2 Thanatophoric Dysplasia Type I20 FGFR3
3 Thanatophoric Dysplasia Type 122

Anatomical Context for Thanatophoric Dysplasia, Type I

About this section

MalaCards organs/tissues related to Thanatophoric Dysplasia, Type I:

31
Skin, Bone, Lung, Eye, Kidney, Brain

Animal Models for Thanatophoric Dysplasia, Type I or affiliated genes

About this section

Publications for Thanatophoric Dysplasia, Type I

About this section

Articles related to Thanatophoric Dysplasia, Type I:

(show all 23)
idTitleAuthorsYear
1
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. (25606676)
2015
2
Lethal short limb dwarfism: thanatophoric dysplasia- type I. (25584280)
2014
3
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. (23551494)
2013
4
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. (22414243)
2012
5
Thanatophoric dysplasia, type I. (22643294)
2012
6
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. (21253318)
2010
7
Stippling: a first trimester marker for thanatophoric dysplasia type I. (20954151)
2010
8
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. (20704477)
2010
9
Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I. (17962111)
2007
10
The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. (17509076)
2007
11
Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. (15906417)
2005
12
A case of thanatophoric dysplasia type I associated with mandibular clefting. (15083707)
2004
13
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. (11879084)
2002
14
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
15
Thanatophoric dysplasia type I. (11270184)
2001
16
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. (11038465)
2000
17
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. (10910625)
1999
18
Thanatophoric dysplasia type I with syndactyly. (9843049)
1998
19
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. (9438390)
1998
20
Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. (9481650)
1998
21
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. (10671061)
1998
22
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
23
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. (7773297)
1995

Variations for Thanatophoric Dysplasia, Type I

About this section

UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia, Type I:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Thanatophoric Dysplasia, Type I:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
2FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
3FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
4FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
6FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
7FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
8FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
9FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
10FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
13FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
14FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
15FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
16FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia, Type I

About this section
Search GEO for disease gene expression data for Thanatophoric Dysplasia, Type I.

Pathways for genes affiliated with Thanatophoric Dysplasia, Type I

About this section

Pathways related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR3, FGFR2
29.4FGFR3, FGFR2
3
Show member pathways
9.4FGFR2, FGFR3
49.4FGFR3, FGFR2
5
Show member pathways
9.4FGFR2, FGFR3
6
Show member pathways
9.4FGFR3, FGFR2
79.4FGFR3, FGFR2
8
Show member pathways
9.4FGFR2, FGFR3
9
Show member pathways
9.4FGFR3, FGFR2
10
Show member pathways
9.4FGFR3, FGFR2
119.3FGFR2, CBL
12
Show member pathways
9.1CBL, PARK2
139.1CBL, PARK2
148.9FGFR3, FGFR2, CBL
15
Show member pathways
8.9FGFR3, FGFR2, CBL
16
Show member pathways
8.9CBL, FGFR2, FGFR3
17
Show member pathways
8.9FGFR3, FGFR2, CBL
188.9FGFR3, FGFR2, CBL
19
Show member pathways
Signaling Pathways in Glioblastoma36
8.9FGFR3, FGFR2, CBL
208.9FGFR3, FGFR2, CBL
21
Show member pathways
8.9CBL, FGFR2, FGFR3
22
Show member pathways
8.9FGFR3, FGFR2, CBL
23
Show member pathways
8.9FGFR3, FGFR2, CBL
24
Show member pathways
8.9FGFR3, FGFR2, CBL
25
Show member pathways
8.9CBL, FGFR2, FGFR3
268.9FGFR3, FGFR2, CBL
27
Show member pathways
8.1PARK2, CBL, FGFR2, FGFR3

Compounds for genes affiliated with Thanatophoric Dysplasia, Type I

About this section

Compounds related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pd 161570599.8FGFR2, FGFR3
2fiin 1 hydrochloride599.8FGFR2, FGFR3
3su 5402599.8FGFR2, FGFR3
4su5402439.8FGFR3, FGFR2
5pd 17307443 5910.8FGFR2, FGFR3
6palifermin43 1210.8FGFR3, FGFR2
7cysteine439.7FGFR3, FGFR2
8ponatinib49 1210.7FGFR3, FGFR2
9thalidomide43 49 59 1212.7FGFR3, FGFR2
10ganciclovir43 1210.6TK1, FGFR2
11imatinib43 49 1211.5FGFR3, CBL
12sulfate43 2410.5FGFR2, FGFR3
13geldanamycin43 49 59 1212.4CBL, PARK2
14lactacystin439.4PARK2, CBL
15nucleoside439.2TK1, PARK2
16phenylalanine439.2CBL, FGFR2, FGFR3
17phosphotyrosine439.2CBL, FGFR2, FGFR3
18glutamate439.1CBL, FGFR2, FGFR3
19adp43 28 2411.0FGFR3, FGFR2, TK1
20oligonucleotide438.9FGFR3, FGFR2, PARK2
21vegf438.8PARK2, FGFR2, FGFR3
22proline438.8PARK2, CBL, FGFR2
23h2o2438.8FGFR2, CBL, PARK2
24nitric oxide43 24 1210.7FGFR2, TK1, PARK2
25estrogen438.5FGFR2, TK1, PARK2
26guanine43 24 1210.5FGFR3, FGFR2, CBL, PARK2
27lysine438.5FGFR3, FGFR2, CBL, PARK2
28threonine438.4FGFR3, FGFR2, CBL, PARK2
29atp43 289.4PARK2, TK1, FGFR2
30lipid438.4FGFR3, FGFR2, CBL, PARK2
31glucose438.2FGFR2, CBL, PARK2
32Adenosine triphosphate24 128.9PARK2, CBL, TK1, FGFR2, FGFR3
33serine437.9PARK2, CBL, TK1, FGFR2, FGFR3
34tyrosine437.9PARK2, CBL, TK1, FGFR2, FGFR3
35calcium43 49 24 1210.9PARK2, CBL, TK1, FGFR2, FGFR3

GO Terms for genes affiliated with Thanatophoric Dysplasia, Type I

About this section

Cellular components related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.4FGFR3, FGFR2

Biological processes related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:00105189.7FGFR3, FGFR2
2lens fiber cell developmentGO:00703079.7FGFR3, FGFR2
3negative regulation of mitosisGO:00458399.7FGFR3, FGFR2
4bone morphogenesisGO:00603499.6FGFR3, FGFR2
5negative regulation of epithelial cell proliferationGO:00506809.6FGFR2, FGFR3
6positive regulation of canonical Wnt signaling pathwayGO:00902639.6FGFR3, FGFR2
7digestive tract developmentGO:00485659.6FGFR2, TK1
8positive regulation of MAPK cascadeGO:00434109.5FGFR3, FGFR2
9peptidyl-tyrosine phosphorylationGO:00181089.5FGFR3, FGFR2
10positive regulation of ERK1 and ERK2 cascadeGO:00703749.5FGFR2, FGFR3
11phosphatidylinositol-mediated signalingGO:00480159.4FGFR3, FGFR2
12Fc-epsilon receptor signaling pathwayGO:00380959.4FGFR3, FGFR2
13insulin receptor signaling pathwayGO:00082869.3FGFR3, FGFR2
14fibroblast growth factor receptor signaling pathwayGO:00085439.1CBL, FGFR2, FGFR3
15epidermal growth factor receptor signaling pathwayGO:00071739.1FGFR3, FGFR2, CBL
16protein autophosphorylationGO:00467779.1FGFR3, FGFR2

Molecular functions related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.4FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.3FGFR3, FGFR2
3fibroblast growth factor bindingGO:00171349.1FGFR3, FGFR2

Products for genes affiliated with Thanatophoric Dysplasia, Type I

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thanatophoric Dysplasia, Type I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet