MCID: THN009
MIFTS: 64

Thanatophoric Dysplasia, Type I

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

Aliases & Classifications for Thanatophoric Dysplasia, Type I

MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 54 13 69
Thanatophoric Dysplasia 12 72 23 50 24 25 56 52 42 14
Thanatophoric Dwarfism 50 25 56 71
Thanatophoric Dysplasia Type 1 50 56 29
Thanatophoric Dysplasia Type I 50 24 71
Td1 56 71
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 71
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 71
Thanatophoric Dwarfism Type 1 56
Thanatophoric Short Stature 25
Thanatophoric Dysplasia 1 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
death in majority of infants soon after birth


HPO:

32
thanatophoric dysplasia, type i:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



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 thanatophoric dysplasia, type ii and hypochondroplasia, and has symptoms including ventriculomegaly, seizures and hydrocephalus. 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 et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). (187600)

UniProtKB/Swiss-Prot : 71 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 : 72 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 thanatophoric dysplasia, type ii 33.3 FGF8 FGFR2 FGFR3
2 hypochondroplasia 28.8 COMP FGFR2 FGFR3 PTH1R
3 platyspondylic skeletal dysplasia, torrance type 11.2
4 atelosteogenesis, type i 10.9
5 boomerang dysplasia 10.9
6 plasmalogens synthesis deficiency isolated 10.5 FGFR2 FGFR3
7 trigonocephaly 1 10.4 FGFR2 FGFR3
8 ocular hypotension 10.4 FGFR2 FGFR3
9 apert syndrome 10.4 FGFR2 FGFR3
10 hypogonadotropic hypogonadism 2 with or without anosmia 10.4 FGFR2 FGFR3
11 esotropia 10.4 FGFR2 FGFR3
12 saddan 10.4 FGFR3 STAT1
13 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.3 FGFR2 FGFR3
14 mucinoses 10.3 FGFR2 FGFR3
15 asthma 10.3
16 atrioventricular septal defect 10.2 COMP FGFR3
17 simosa craniofacial syndrome 10.2 FGFR2 FGFR3
18 breast intracanalicular fibroadenoma 10.1 FGFR3 PTH1R
19 polyglucosan body disease, adult form 10.1 FGFR3 PTH1R
20 craniosynostosis 1 10.1 CBL FGFR2 FGFR3
21 angelman syndrome due to imprinting defect in 15q11-q13 10.1 FGFR3 PTH1R
22 central nervous system chondroma 10.0 FGFR2 FGFR3
23 exudative vitreoretinopathy 3 10.0 FGF8 FGFR3
24 sulfite oxidase deficiency 10.0 COMP FGFR3
25 beare-stevenson cutis gyrata syndrome 10.0 FGF13 FGFR2 FGFR3
26 slc6a4-related altered drug metabolism 10.0 COMP FGFR2 FGFR3
27 ischemic bone disease 10.0 COMP FGFR2 FGFR3
28 renal dysplasia 9.9
29 dwarfism 9.8
30 skeletal dysplasias 9.8
31 skeletal dysplasia 9.8
32 achondroplasia 9.8
33 skin fragility-woolly hair-palmoplantar keratoderma syndrome 9.7 COMP FGFR3 PTH1R
34 allergic asthma 9.7
35 thalassemia major 9.7
36 endotheliitis 9.7
37 tetralogy of fallot 9.7
38 pulmonary hypertension 9.7
39 thalassemia 9.7
40 pharyngitis 9.7
41 jackson-weiss syndrome 9.7 FGF8 FGFR2 FGFR3
42 crohn's disease 9.6 FGF8 FGFR2 FGFR3
43 vulvovaginitis 9.6 FGFR3 PTH1R
44 bladder cancer, somatic 9.2 FGF13 FGF8 FGFR2 FGFR3
45 crouzon syndrome with acanthosis nigricans 7.1 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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hydrocephalus
temporal lobe heterotopias
profound mental retardation and hypotonia in survivors

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Chest- Ribs Sternum Clavicles And Scapulae:
short ribs
wide-cupped costochondral junctions
small abnormally formed scapulae

Growth- Height:
dwarfism, lethal micromelic

Head And Neck- Face:
small face

Skeletal- Skull:
small foramen magnum
cloverleaf skull rarely

Skeletal- Pelvis:
short and small iliac bones
small sacroiliac notches

Prenatal Manifestations:
prenatal diagnosis by ultrasound

Prenatal Manifestations- Movement:
decreased fetal activity

Head And Neck- Head:
frontal bossing
macrocephaly

Chest- External Features:
narrow thorax

Growth- Other:
severe growth deficiency in survivors

Respiratory- Lung:
respiratory insufficiency/failure

Skeletal- Spine:
severe platyspondyly

Skeletal- Limbs:
marked shortness and bowing of long bones
'french telephone receiver femurs'
flared and irregular metaphyses


Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

56 32 (show top 50) (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002119
2 seizures 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
3 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
4 low-set ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000369
5 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005280
6 proptosis 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000520
7 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000926
8 kyphosis 56 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002808
9 femoral bowing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002980
10 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
11 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
12 pulmonary hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002089
13 polyhydramnios 56 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001561
14 frontal bossing 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002007
15 narrow chest 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000774
16 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000256
17 hypoplastic ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000946
18 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001387
19 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
20 respiratory insufficiency 56 32 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002093
21 wide anterior fontanel 56 32 frequent (33%) Frequent (79-30%) HP:0000260
22 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
23 flat face 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012368
24 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 micromelia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002983
26 intellectual disability, profound 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002187
27 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
28 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000956
29 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
30 redundant skin 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001582
31 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
32 hearing impairment 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
33 cloverleaf skull 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002676
34 split hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0001171
35 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
36 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
37 heterotopia 56 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002282
38 abnormality of the kidney 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000077
39 increased nuchal translucency 56 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0010880
40 disproportionate short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008873
41 aplasia/hypoplasia of the lungs 56 32 frequent (33%) Frequent (79-30%) HP:0006703
42 abnormality of the sacroiliac joint 56 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0100781
43 excessive wrinkled skin 56 32 frequent (33%) Frequent (79-30%) HP:0007392
44 short femur 56 32 hallmark (90%) Very frequent (99-80%) HP:0003097
45 short sacroiliac notch 56 32 hallmark (90%) Very frequent (99-80%) HP:0003185
46 lethal short-limbed short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008909
47 brachydactyly 32 hallmark (90%) HP:0001156
48 atrial septal defect 32 occasional (7.5%) HP:0001631
49 global developmental delay 32 HP:0001263
50 short ribs 32 HP:0000773

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 PTH1R STAT1 CBL COMP FGF13 FGF8
2 growth/size/body region MP:0005378 10.08 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
3 homeostasis/metabolism MP:0005376 10.04 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
4 limbs/digits/tail MP:0005371 10 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
5 mortality/aging MP:0010768 9.98 CBL FGF13 FGF8 FGFR2 FGFR3 PTH1R
6 cardiovascular system MP:0005385 9.97 CBL COMP FGF8 FGFR2 STAT1
7 craniofacial MP:0005382 9.96 CBL FGF8 FGFR2 FGFR3 PTH1R
8 digestive/alimentary MP:0005381 9.95 FGF8 FGFR2 FGFR3 PTH1R STAT1
9 immune system MP:0005387 9.95 CBL COMP FGF8 FGFR2 FGFR3 STAT1
10 hematopoietic system MP:0005397 9.91 CBL FGF8 FGFR2 FGFR3 STAT1
11 hearing/vestibular/ear MP:0005377 9.83 CBL FGF8 FGFR2 FGFR3
12 muscle MP:0005369 9.8 CBL COMP FGF8 FGFR2 STAT1
13 nervous system MP:0003631 9.72 FGFR3 STAT1 FGF13 FGF8 FGFR2
14 normal MP:0002873 9.65 COMP FGF8 FGFR2 FGFR3 STAT1
15 respiratory system MP:0005388 9.55 FGF8 FGFR2 FGFR3 PTH1R CBL
16 neoplasm MP:0002006 9.54 FGFR2 FGFR3 STAT1
17 skeleton MP:0005390 9.5 CBL COMP FGF8 FGFR2 FGFR3 PTH1R
18 vision/eye MP:0005391 8.92 FGFR3 STAT1 FGF8 FGFR2

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 glucagon Phase 2
4 Gastrointestinal Agents Phase 2
5 Glucagon-Like Peptide 1 Phase 2
6 Hormone Antagonists Phase 2
7 Dermatologic Agents 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 Central Nervous System Stimulants Phase 1
14 Cholinergic Agents Phase 1
15 Neurotransmitter Agents Phase 1
16 Nicotinic Agonists Phase 1
17 Peripheral Nervous System Agents Phase 1
18 Autonomic Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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 INGAP Peptide, Ustekinumab
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 ZP4207;GlucaGen
4 Nicotine Patch - Bioequivalence Study Completed NCT02089308 Phase 1 Test treatment : V0116 transdermal patch;Reference treatment : Nicotine transdermal patch
5 Nicotine Patch - Multidose Bioequivalence Study Completed NCT01658215 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference treatment )
6 Nicotine Patch Bioequivalence Study Completed NCT01658202 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference Treatment )

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, Temporal Lobe

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
Thanatophoric dysplasia, type I. ( 22643294 )
2012
6
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. ( 22414243 )
2012
7
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. ( 20704477 )
2010
8
Stippling: a first trimester marker for thanatophoric dysplasia type I. ( 20954151 )
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
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
16
Thanatophoric dysplasia type I. ( 11270184 )
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
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. ( 10671061 )
1998
20
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. ( 9438390 )
1998
21
Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. ( 9481650 )
1998
22
Thanatophoric dysplasia type I with syndactyly. ( 9843049 )
1998
23
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
24
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. ( 7773297 )
1995

Variations for Thanatophoric Dysplasia, Type I

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

71
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.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
2 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
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
12.76 FGF13 FGF8 FGFR2 FGFR3 STAT1
8
Show member pathways
12.53 FGF13 FGF8 FGFR2 FGFR3
9
Show member pathways
12.52 CBL FGF8 FGFR2 FGFR3
10 12.5 FGF13 FGF8 FGFR2 FGFR3
11
Show member pathways
12.48 FGF13 FGF8 FGFR2 FGFR3
12 12.37 FGF13 FGF8 FGFR2 FGFR3
13
Show member pathways
12.32 CBL FGF8 FGFR2 FGFR3
14
Show member pathways
12.28 CBL FGF13 FGF8 FGFR2 FGFR3
15 12.21 CBL FGFR2 FGFR3
16
Show member pathways
12.2 FGF8 FGFR2 FGFR3
17
Show member pathways
12.11 FGF13 FGF8 FGFR2 FGFR3
18
Show member pathways
11.97 CBL FGF13 FGF8 FGFR2 FGFR3
19 11.97 COMP FGF13 FGF8 FGFR2 FGFR3 STAT1
20
Show member pathways
11.96 CBL FGF8 FGFR2 FGFR3
21 11.93 CBL FGFR2 FGFR3
22
Show member pathways
11.82 FGF8 FGFR2 FGFR3 STAT1
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 11.34 CBL FGF13 FGF8 FGFR2 FGFR3
32 11.3 FGFR2 FGFR3
33 11.25 CBL FGFR2 STAT1

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 9.84 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 skeletal system development GO:0001501 9.7 COMP FGFR3 PTH1R
6 phosphatidylinositol-mediated signaling GO:0048015 9.67 FGF8 FGFR2 FGFR3
7 phosphatidylinositol phosphorylation GO:0046854 9.65 FGF8 FGFR2 FGFR3
8 apoptotic process GO:0006915 9.65 COMP FGF8 FGFR2 FGFR3 STAT1
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 MAPK cascade GO:0000165 9.62 FGF13 FGF8 FGFR2 FGFR3
13 positive regulation of cell division GO:0051781 9.61 FGF8 FGFR2
14 chondrocyte differentiation GO:0002062 9.61 FGFR3 PTH1R
15 odontogenesis GO:0042476 9.6 FGF8 FGFR2
16 JAK-STAT cascade GO:0007259 9.59 FGFR3 STAT1
17 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR2 STAT1
19 outflow tract septum morphogenesis GO:0003148 9.57 FGF8 FGFR2
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
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36 IUPHAR
37 KEGG
38 LifeMap
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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