TD1
MCID: THN009
MIFTS: 63

Thanatophoric Dysplasia, Type I (TD1) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Thanatophoric Dysplasia, Type I

Aliases & Descriptions for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 54 13 69
Thanatophoric Dysplasia 12 71 23 50 24 25 56 52 42 14
Thanatophoric Dwarfism 50 25 56 66
Thanatophoric Dysplasia Type I 50 24 66
Thanatophoric Dysplasia Type 1 50 56
Thanatophoric Dysplasia 1 66 29
Td1 56 66
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 66
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 66
Thanatophoric Dwarfism Type 1 56
Thanatophoric Short Stature 25
Thanatophoric Dwarfism 1 50
Dwarfism Thanatophoric 50
Dwarf, Thanatophoric 25
Tdi 24
Td 56

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
thanatophoric dysplasia, type i:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance of mutations in fgfr3 is 100%...

Classifications:



External Ids:

OMIM 54 187600
Disease Ontology 12 DOID:13481
ICD10 33 Q77.1
MeSH 42 D013796
NCIt 47 C85187
SNOMED-CT 64 29352008
UMLS via Orphanet 70 C0039743 C2931282
ICD10 via Orphanet 34 Q77.1
UMLS 69 C0039743

Summaries for Thanatophoric Dysplasia, Type I

NIH Rare Diseases : 50 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 pharyngitis and thanatophoric dysplasia, type ii, and has symptoms including seizures, joint stiffness and macrocephaly. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Vaccines and Ustekinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

Genetics Home Reference : 25 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 : 54 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187600) more...

UniProtKB/Swiss-Prot : 66 Thanatophoric dysplasia 1: A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs.

Wikipedia : 71 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

GeneReviews: NBK1366

Related Diseases for Thanatophoric Dysplasia, Type I

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 all 45)
id Related Disease Score Top Affiliating Genes
1 pharyngitis 29.4 FGFR2 PTH1R
2 thanatophoric dysplasia, type ii 12.5
3 platyspondylic skeletal dysplasia, torrance type 11.2
4 asthma 10.3
5 familial porphyria cutanea tarda 10.2 FGFR2 FGFR3
6 hartsfield syndrome 10.2 FGFR2 FGFR3
7 pointer syndrome 10.2 FGFR2 FGFR3
8 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.2 FGFR2 FGFR3
9 cervical spinal canal and spinal cord meningioma 10.2 FGFR2 FGFR3
10 osteoglophonic dysplasia 10.2 FGFR2 FGFR3
11 huntington disease 10.2 FGFR3 STAT1
12 aica-ribosiduria due to atic deficiency 10.2 FGFR2 FGFR3
13 crouzon syndrome with acanthosis nigricans 10.2 FGFR2 FGFR3
14 lingual-facial-buccal dyskinesia 10.1 FGFR2 FGFR3
15 13q12.3 microdeletion syndrome 10.1 FGFR3 PTH1R
16 leg dermatosis 10.1 FGFR2 FGFR3
17 vitelliform macular dystrophy 10.1 COMP FGFR3
18 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.1 CBL STAT1
19 robinow-sorauf syndrome 10.1 CBL FGFR2 FGFR3
20 scaphocephaly, maxillary retrusion, and mental retardation 10.0 FGFR2 FGFR3
21 candidiasis, familial, 3 10.0 FGF8 FGFR3
22 sp7-related osteogenesis imperfecta 10.0 COMP FGFR2 FGFR3
23 neuropathy, distal hereditary motor, type iia 10.0 COMP FGFR3
24 apert syndrome 10.0 FGF13 FGFR2 FGFR3
25 bone structure disease 10.0 COMP FGFR2 FGFR3
26 toenail dystrophy, isolated 10.0 FGFR3 PTH1R
27 slti salem syndrome 9.9 COMP FGFR3 PTH1R
28 saddan 9.9 FGF8 FGFR2 FGFR3
29 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGF8 FGFR2 FGFR3
30 cutaneous leishmaniasis 9.9 FGF8 FGFR2 FGFR3
31 renal dysplasia 9.9
32 syndactyly 9.8
33 dwarfism 9.8
34 skeletal dysplasias 9.8
35 skeletal dysplasia 9.8
36 achondroplasia 9.8
37 hypochondroplasia 9.8
38 pulmonary hypertension 9.7
39 thalassemia 9.7
40 allergic asthma 9.7
41 thalassemia major 9.7
42 endotheliitis 9.7
43 tetralogy of fallot 9.7
44 cervical cancer, somatic 9.7 FGF13 FGF8 FGFR2 FGFR3
45 muenke syndrome 8.9 CBL COMP FGF13 FGF8 FGFR2 FGFR3

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



Diseases related to Thanatophoric Dysplasia, Type I

Symptoms & Phenotypes for Thanatophoric Dysplasia, Type I

Symptoms by clinical synopsis from OMIM:

187600

Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

56 32 (show top 50) (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%),Occasional (29-5%) HP:0001250
2 joint stiffness 56 32 Occasional (29-5%),Occasional (29-5%) HP:0001387
3 macrocephaly 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000256
4 low-set ears 56 32 Occasional (29-5%) HP:0000369
5 frontal bossing 56 32 Frequent (79-30%),Frequent (79-30%) HP:0002007
6 hydrocephalus 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000238
7 muscular hypotonia 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001252
8 respiratory insufficiency 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0002093
9 kyphosis 56 32 Occasional (29-5%),Frequent (79-30%) HP:0002808
10 hearing impairment 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000365
11 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
12 skeletal dysplasia 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0005280
14 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
15 acanthosis nigricans 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000956
16 cloverleaf skull 56 32 Occasional (29-5%),Occasional (29-5%) HP:0002676
17 abnormality of the metaphyses 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000944
18 narrow chest 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000774
19 platyspondyly 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000926
20 patent ductus arteriosus 56 32 Occasional (29-5%),Occasional (29-5%) HP:0001643
21 micromelia 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002983
22 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
23 short thorax 56 32 Very frequent (99-80%) HP:0010306
24 flat face 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0012368
25 ventriculomegaly 56 32 Frequent (79-30%),Frequent (79-30%) HP:0002119
26 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
27 abnormality of the kidney 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000077
28 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
29 brachydactyly syndrome 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001156
30 polyhydramnios 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001561
31 intellectual disability, profound 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002187
32 split hand 56 32 Very frequent (99-80%) HP:0001171
33 redundant skin 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001582
34 increased nuchal translucency 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0010880
35 disproportionate short-limb short stature 56 32 Very frequent (99-80%) HP:0008873
36 midface retrusion 56 32 Frequent (79-30%) HP:0011800
37 proptosis 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000520
38 aplasia/hypoplasia of the lungs 56 32 Frequent (79-30%) HP:0006703
39 wide anterior fontanel 56 32 Frequent (79-30%) HP:0000260
40 pulmonary hypoplasia 56 32 Very frequent (99-80%) HP:0002089
41 heterotopia 56 32 Frequent (79-30%),Occasional (29-5%) HP:0002282
42 abnormality of the sacroiliac joint 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0100781
43 femoral bowing 56 32 Very frequent (99-80%) HP:0002980
44 excessive wrinkled skin 56 32 Frequent (79-30%) HP:0007392
45 hypoplastic ilia 56 32 Very frequent (99-80%) HP:0000946
46 short femur 56 32 Very frequent (99-80%) HP:0003097
47 short sacroiliac notch 56 32 Very frequent (99-80%) HP:0003185
48 lethal short-limbed short stature 56 32 Very frequent (99-80%) HP:0008909
49 global developmental delay 32 HP:0001263
50 malformation of the heart and great vessels 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 CBL COMP FGF13 FGF8 FGFR2 FGFR3
2 growth/size/body region MP:0005378 10.02 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
3 cellular MP:0005384 10 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
4 homeostasis/metabolism MP:0005376 9.98 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
5 craniofacial MP:0005382 9.91 CBL FGF8 FGFR2 FGFR3 PTH1R
6 limbs/digits/tail MP:0005371 9.91 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
7 digestive/alimentary MP:0005381 9.89 FGF8 FGFR2 FGFR3 PTH1R STAT1
8 immune system MP:0005387 9.88 CBL COMP FGF8 FGFR2 FGFR3 STAT1
9 mortality/aging MP:0010768 9.87 CBL FGF13 FGF8 FGFR2 FGFR3 PTH1R
10 hearing/vestibular/ear MP:0005377 9.76 CBL FGF8 FGFR2 FGFR3
11 muscle MP:0005369 9.65 STAT1 CBL COMP FGF8 FGFR2
12 normal MP:0002873 9.55 FGFR2 FGFR3 STAT1 COMP FGF8
13 respiratory system MP:0005388 9.35 CBL FGF8 FGFR2 FGFR3 PTH1R
14 skeleton MP:0005390 9.17 FGFR3 PTH1R STAT1 CBL COMP FGF8

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

Drugs for Thanatophoric Dysplasia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Ustekinumab Approved, Investigational Phase 2 815610-63-0
3 Dermatologic Agents Phase 2
4 Gastrointestinal Agents Phase 2
5 glucagon Phase 2
6 Glucagon-Like Peptide 1 Phase 2
7 Hormone Antagonists Phase 2
8 Hormones Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Hypoglycemic Agents Phase 2
11 Incretins Phase 2
12
Nicotine Approved Phase 1 54-11-5 942 89594
13 Autonomic Agents Phase 1
14 Central Nervous System Stimulants Phase 1
15 Cholinergic Agents Phase 1
16 Neurotransmitter Agents Phase 1
17 Nicotinic Agonists Phase 1
18 Peripheral Nervous System Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine Booster Unknown status NCT00870350 Phase 4
2 Study of Tolerability and Safety of Adding Ustekinumab to INGAP Peptide for 12 Weeks in Adult Patients With TD1 Melitis Completed NCT02204397 Phase 2
3 Single Doses of ZP4207 Adm. sc to Hypoglycemic TD1 pt. to Describe the PK and PD of ZP4207 as Comp. to Marketed Glucagon Completed NCT02660008 Phase 2
4 Nicotine Patch - Bioequivalence Study Completed NCT02089308 Phase 1
5 Nicotine Patch - Multidose Bioequivalence Study Completed NCT01658215 Phase 1
6 Nicotine Patch Bioequivalence Study Completed NCT01658202 Phase 1

Search NIH Clinical Center for Thanatophoric Dysplasia, Type I

Cochrane evidence based reviews: thanatophoric dysplasia

Genetic Tests for Thanatophoric Dysplasia, Type I

Genetic tests related to Thanatophoric Dysplasia, Type I:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type 1 29
2 Thanatophoric Dysplasia 24 FGFR3
3 Thanatophoric Dysplasia Type I 24 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type I

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

39
Skin, Bone, Lung, Eye, Heart, Kidney, Brain

Publications for Thanatophoric Dysplasia, Type I

Articles related to Thanatophoric Dysplasia, Type I:

(show all 24)
id Title Authors Year
1
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. ( 25606676 )
2015
2
Thanatophoric dysplasia type I: a rare case report at fetal autopsy. ( 25328339 )
2014
3
Lethal short limb dwarfism: thanatophoric dysplasia- type I. ( 25584280 )
2014
4
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. ( 23551494 )
2013
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
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
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. ( 21253318 )
2010
10
Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I. ( 17962111 )
2007
11
The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. ( 17509076 )
2007
12
Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. ( 15906417 )
2005
13
A case of thanatophoric dysplasia type I associated with mandibular clefting. ( 15083707 )
2004
14
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. ( 11879084 )
2002
15
Thanatophoric dysplasia type I. ( 11270184 )
2001
16
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
17
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. ( 11038465 )
2000
18
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. ( 10910625 )
1999
19
Thanatophoric dysplasia type I with syndactyly. ( 9843049 )
1998
20
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. ( 10671061 )
1998
21
Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. ( 9481650 )
1998
22
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. ( 9438390 )
1998
23
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. ( 7773297 )
1995
24
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

Variations for Thanatophoric Dysplasia, Type I

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

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Ser249Cys VAR_004149 rs121913483
3 FGFR3 p.Gly370Cys VAR_004151 rs121913479
4 FGFR3 p.Ser371Cys VAR_004152 rs121913484
5 FGFR3 p.Tyr373Cys VAR_004153 rs121913485
6 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Thanatophoric Dysplasia, Type I:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
2 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
3 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
4 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
5 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913484 GRCh37 Chromosome 4, 1806092: 1806092
6 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
7 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
8 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
9 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913485 GRCh37 Chromosome 4, 1806099: 1806099
10 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
11 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
12 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
13 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
14 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989

Expression for Thanatophoric Dysplasia, Type I

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

Pathways for Thanatophoric Dysplasia, Type I

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

(show all 33)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
2
Show member pathways
13.26 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
3
Show member pathways
13.16 FGF13 FGF8 FGFR2 FGFR3 STAT1
4
Show member pathways
13.11 CBL FGF8 FGFR2 FGFR3 STAT1
5
Show member pathways
13.04 CBL FGF13 FGF8 FGFR2 FGFR3
6
Show member pathways
12.82 FGF13 FGF8 FGFR2 FGFR3
7
Show member pathways
12.77 FGF13 FGF8 FGFR2 FGFR3 STAT1
8
Show member pathways
12.73 CBL FGF13 FGF8 FGFR2 FGFR3
9
Show member pathways
12.53 FGF13 FGF8 FGFR2 FGFR3
10
Show member pathways
12.52 CBL FGF8 FGFR2 FGFR3
11 12.5 FGF13 FGF8 FGFR2 FGFR3
12
Show member pathways
12.48 FGF13 FGF8 FGFR2 FGFR3
13 12.39 FGF13 FGF8 FGFR2 FGFR3
14
Show member pathways
12.34 CBL FGF8 FGFR2 FGFR3
15 12.21 CBL FGFR2 FGFR3
16
Show member pathways
12.19 FGF8 FGFR2 FGFR3
17 12.19 COMP FGF13 FGF8 FGFR2 FGFR3
18
Show member pathways
12.11 FGF13 FGF8 FGFR2 FGFR3
19
Show member pathways
11.96 CBL FGF8 FGFR2 FGFR3
20 11.92 CBL FGFR2 FGFR3
21
Show member pathways
11.82 FGF8 FGFR2 FGFR3 STAT1
22
Show member pathways
11.77 CBL FGF13 FGF8 FGFR2 FGFR3
23 11.72 FGF8 FGFR2 FGFR3
24 11.7 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
25
Show member pathways
11.65 CBL STAT1
26 11.45 FGFR3 PTH1R STAT1
27
Show member pathways
11.42 CBL STAT1
28
Show member pathways
11.42 FGF8 FGFR3
29 11.39 CBL STAT1
30 11.38 CBL STAT1
31 11.3 FGFR2 FGFR3
32 11.25 CBL FGFR2 STAT1
33 11.24 CBL FGF13 FGF8 FGFR2 FGFR3

GO Terms for Thanatophoric Dysplasia, Type I

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

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 CBL FGF13 STAT1

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 FGF8 FGFR2 FGFR3 PTH1R
2 cell-cell signaling GO:0007267 9.79 FGF13 FGFR2 FGFR3
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.73 FGF8 FGFR2 FGFR3
4 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF8 FGFR2 FGFR3
5 apoptotic process GO:0006915 9.72 COMP FGF8 FGFR2 FGFR3 STAT1
6 skeletal system development GO:0001501 9.71 COMP FGFR3 PTH1R
7 phosphatidylinositol-mediated signaling GO:0048015 9.67 FGF8 FGFR2 FGFR3
8 phosphatidylinositol phosphorylation GO:0046854 9.65 FGF8 FGFR2 FGFR3
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.63 FGFR2 STAT1
10 cell fate commitment GO:0045165 9.63 FGF8 FGFR2
11 bone development GO:0060348 9.62 FGF8 FGFR2
12 positive regulation of cell division GO:0051781 9.61 FGF8 FGFR2
13 chondrocyte differentiation GO:0002062 9.61 FGFR3 PTH1R
14 odontogenesis GO:0042476 9.6 FGF8 FGFR2
15 JAK-STAT cascade GO:0007259 9.59 FGFR3 STAT1
16 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR2 STAT1
18 outflow tract septum morphogenesis GO:0003148 9.57 FGF8 FGFR2
19 MAPK cascade GO:0000165 9.56 FGF13 FGF8 FGFR2 FGFR3
20 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.54 FGF8 FGFR2 FGFR3
21 branching involved in salivary gland morphogenesis GO:0060445 9.51 FGF8 FGFR2
22 positive regulation of phospholipase activity GO:0010518 9.46 FGFR2 FGFR3
23 endochondral bone growth GO:0003416 9.43 FGFR2 FGFR3
24 otic vesicle formation GO:0030916 9.4 FGF8 FGFR2
25 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.33 FGF8 FGFR2 FGFR3
26 bone mineralization GO:0030282 9.13 FGFR2 FGFR3 PTH1R
27 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 CBL FGF8 FGFR2 FGFR3

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

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.5 FGF8 FGFR2 FGFR3
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 FGF8 FGFR2 FGFR3
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.4 FGFR2 FGFR3
4 fibroblast growth factor binding GO:0017134 9.37 FGFR2 FGFR3
5 fibroblast growth factor-activated receptor activity GO:0005007 9.16 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF8 FGFR2 FGFR3
7 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF8 FGFR2 FGFR3

Sources for Thanatophoric Dysplasia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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