MCID: THN009
MIFTS: 62

Thanatophoric Dysplasia, Type I malady

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

Aliases & Classifications for Thanatophoric Dysplasia, Type I

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Aliases & Descriptions for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 51 12 67
Thanatophoric Dysplasia 11 70 23 47 24 25 53 49 38 13
Thanatophoric Dwarfism 47 25 53 69
Thanatophoric Dysplasia Type I 47 24 69
Thanatophoric Dysplasia Type 1 47 53
Thanatophoric Dysplasia 1 69 26
Td1 53 69
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 69
 
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 69
Thanatophoric Dwarfism Type 1 53
Thanatophoric Short Stature 25
Thanatophoric Dwarfism 1 47
Dwarfism Thanatophoric 47
Dwarf, Thanatophoric 25
Tdi 24
Td 53

Characteristics:

Orphanet epidemiological data:

53
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

HPO:

63
thanatophoric dysplasia, type i:
Inheritance: autosomal dominant inheritance
Mortality/Aging: neonatal death

GeneReviews:

23
Penetrance: the penetrance of mutations in fgfr3 is 100%...


Classifications:



External Ids:

OMIM51 187600
Disease Ontology11 DOID:13481
ICD1029 Q77.1
MeSH38 D013796
NCIt44 C85187
SNOMED-CT61 29352008
UMLS via Orphanet68 C0039743, C2931282
ICD10 via Orphanet30 Q77.1

Summaries for Thanatophoric Dysplasia, Type I

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NIH Rare Diseases:47 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 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 Vemurafenib Pathway, Pharmacodynamics and Alzheimers Disease Pathway. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are hearing/vestibular/ear and normal.

Disease Ontology:11 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:51 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187600) more...

UniProtKB/Swiss-Prot:69 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:70 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

GeneReviews for NBK1366

Related Diseases for Thanatophoric Dysplasia, Type I

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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 40)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type ii33.7FGF8, FGFR2, FGFR3
2hypochondroplasia29.6FGFR2, FGFR3, PTH1R
3platyspondylic skeletal dysplasia, torrance type11.2
4flnb-related disorders10.4FGFR2, FGFR3
5plasmalogens synthesis deficiency isolated10.4FGFR2, FGFR3
6trigonocephaly 110.3FGFR2, FGFR3
7mite infestation10.3FGFR2, FGFR3
8bladder cancer, somatic10.3FGFR2, FGFR3
9apert syndrome10.3FGFR2, FGFR3
10hypogonadotropic hypogonadism 2 with or without anosmia10.3FGFR2, FGFR3
11saddan10.3FGFR3, STAT1
12accommodative esotropia10.3FGFR2, FGFR3
13asthma10.3
14glaucomatocyclitic crisis10.2FGFR2, FGFR3
15antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGFR2, FGFR3
16neuropathy, distal hereditary motor, type iia10.2COMP, FGFR3
17scleredema adultorum10.1FGFR2, FGFR3
18atrioventricular septal defect10.1COMP, FGFR3
19craniosynostosis, type 110.0CBL, FGFR2, FGFR3
20ischemic bone disease10.0COMP, FGFR2, FGFR3
21jackson-weiss syndrome9.9FGF8, FGFR2, FGFR3
22crohn's disease9.9FGF8, FGFR2, FGFR3
23toenail dystrophy, isolated9.9FGFR3, PTH1R
24achondroplasia9.8
25dwarfism9.8
26skeletal dysplasias9.8
27skeletal dysplasia9.8
28beare-stevenson cutis gyrata syndrome9.8FGFR2, FGFR3
29mild phosphoribosylpyrophosphate synthetase superactivity9.8FGFR3, PTH1R
30osteopathia striata with pigmentary dermopathy including white forelock9.8COMP, FGFR3, PTH1R
31vulvovaginal candidiasis9.7COMP, FGFR3, PTH1R
32tetralogy of fallot9.7
33pulmonary hypertension9.7
34thalassemia9.7
35pharyngitis9.7
36allergic asthma9.7
37thalassemia major9.7
38endotheliitis9.7
39central nervous system leukemia9.7FGF13, FGFR2, FGFR3
40crouzon syndrome with acanthosis nigricans7.5CBL, 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 for Thanatophoric Dysplasia, Type I

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Symptoms by clinical synopsis from OMIM:

187600

Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

 63 53 (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening63 hallmark (90%) HP:0000272
3 small face63 hallmark (90%) HP:0000274
4 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
5 platyspondyly63 53 hallmark (90%) Very frequent (99-80%) HP:0000926
6 cutis laxa63 hallmark (90%) HP:0000973
7 brachydactyly syndrome63 53 hallmark (90%) Frequent (79-30%) HP:0001156
8 split hand63 53 hallmark (90%) Very frequent (99-80%) HP:0001171
9 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
10 respiratory insufficiency63 53 hallmark (90%) Occasional (29-5%) HP:0002093
11 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
12 abnormality of the femur63 hallmark (90%) HP:0002823
13 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
14 short stature63 hallmark (90%) HP:0004322
15 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
16 bowing of the long bones63 53 hallmark (90%) Very frequent (99-80%) HP:0006487
17 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
18 cognitive impairment63 hallmark (90%) HP:0100543
19 abnormality of the sacroiliac joint63 53 hallmark (90%) Occasional (29-5%) HP:0100781
20 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
21 aplasia/hypoplasia of the lungs63 53 hallmark (90%) Frequent (79-30%) HP:0006703
22 increased nuchal translucency63 53 hallmark (90%) Very frequent (99-80%) HP:0010880
23 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
24 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
25 polyhydramnios63 53 typical (50%) Occasional (29-5%) HP:0001561
26 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
27 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
28 kyphosis63 53 typical (50%) Occasional (29-5%) HP:0002808
29 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
30 abnormality of neuronal migration63 typical (50%) HP:0002269
31 abnormality of the kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0000077
32 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
33 acanthosis nigricans63 53 occasional (7.5%) Occasional (29-5%) HP:0000956
34 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
35 limitation of joint mobility63 occasional (7.5%) HP:0001376
36 atria septal defect63 occasional (7.5%) HP:0001631
37 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
38 cloverleaf skull63 53 occasional (7.5%) Occasional (29-5%) HP:0002676
39 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
40 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
41 joint hypermobility63 occasional (7.5%) HP:0001382
42 short ribs63 HP:0000773
43 wide-cupped costochondral junctions63 HP:0000910
44 hypoplastic ilia63 53 Very frequent (99-80%) HP:0000946
45 global developmental delay63 HP:0001263
46 decreased fetal movement63 HP:0001558
47 intellectual disability, profound63 53 Very frequent (99-80%) HP:0002187
48 heterotopia63 53 Frequent (79-30%) HP:0002282
49 small foramen magnum63 HP:0002677
50 flared metaphysis63 HP:0003015
51 metaphyseal irregularity63 HP:0003025
52 short long bone63 HP:0003026
53 short sacroiliac notch63 53 Very frequent (99-80%) HP:0003185
54 severe short stature63 HP:0003510
55 severe platyspondyly63 HP:0004565
56 small abnormally formed scapulae63 HP:0006584
57 lethal short-limbed short stature63 53 Very frequent (99-80%) HP:0008909
58 low-set ears53 Occasional (29-5%)
59 hip dysplasia53 Occasional (29-5%)
60 joint stiffness53 Occasional (29-5%)
61 redundant skin53 Very frequent (99-80%)
62 defect in the atrial septum53 Occasional (29-5%)
63 pulmonary hypoplasia53 Very frequent (99-80%)
64 malformation of the heart and great vessels53 Occasional (29-5%)
65 abnormality of the ilium53 Occasional (29-5%)
66 joint hyperflexibility53 Occasional (29-5%)
67 disproportionate short-limb short stature53 Very frequent (99-80%)
68 midface retrusion53 Frequent (79-30%)
69 flat face53 Very frequent (99-80%)
70 wide anterior fontanel53 Frequent (79-30%)
71 femoral bowing53 Very frequent (99-80%)
72 short femur53 Very frequent (99-80%)
73 excessive wrinkled skin53 Frequent (79-30%)

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46428
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
3IncretinsPhase 21537
4HormonesPhase 213979
5Hypoglycemic AgentsPhase 25733
6Hormone AntagonistsPhase 212778
7glucagonPhase 2462
8Gastrointestinal AgentsPhase 28109
9Glucagon-Like Peptide 1Phase 2694
10
NicotineapprovedPhase 1105054-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(-)-3-(1-Methyl-2-pyrrolidyl)pyridine
(-)-3-(N-Methylpyrrolidino)pyridine
(-)-Nicotine
(-)-Nicotine solution
(2S) 3-(1-Methyl-pyrrolidin-2-yl)-pyridine
(R)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(R,S)-Nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(S)-(-)-Nicotine
(S)-(−)-nicotine
(S)-3-(1-methylpyrrolidin-2-yl)pyridine
(S)-3-(N-methylpyrrolidin-2-yl)pyridine
(S)-Nicotine
(−)-nicotine
)-1-Methyl-2-(3-pyridyl)pyrrolidine
)-Nicotine
)-Nicotine solution
1-Methyl-2-(3-pyridal)-Pyrrolidine
1-Methyl-2-(3-pyridal)-pyrrolidene
1-Methyl-2-(3-pyridiyl)pyrrolidine
1-Methyl-2-(3-pyridyl)pyrrolidine
1uw6
2'-beta-H-Nicotine
3-(1-Methyl-2-pyrollidinyl)pyridine
3-(1-Methyl-2-pyrrolidinyl)-Pyridine
3-(1-Methyl-2-pyrrolidinyl)pyridine
3-(1-Methylpyrrolidin-2-yl)pyridine
3-(2-(N-methylpyrrolidinyl))pyridine
3-(N-Methylpyrollidino)pyridine
3-(N-Methylpyrrolidino)pyridine
3-(N-methylpyrollidino)pyridine
3-N-Methylpyrrolidine
3-[(2S)-1-methylpyrrolidin-2-yl]pyridine
36733_FLUKA
36733_RIEDEL
434F7990-3240-4A43-ACEC-E6CC1E495FA0
46343_FLUKA
46343_RIEDEL
54-11-5
AC1L3I79
AC1Q3ZOC
AI3-03424
BB_NC-0777
BIDD:GT0599
BRD-K05395900-322-02-1
Black Leaf
Black Leaf 40
C00745
CCRIS 1637
CHEBI:17688
CHEMBL3
CID89594
CPD000059074
Campbell's Nico-Soap
Caswell No. 597
Commit
D-Nicotine
D03365
DL-tetrahydronicotyrine
Destruxol
Destruxol Orchid Spray
EINECS 200-193-3
ENT 3,424
EPA Pesticide Chemical Code 056702
Emo-Nik
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
L(-)-nicotine
L(−)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
 
L-Nicotine
LS-202
MLS001055457
MLS001335905
Mach-Nic
Methyl-2-pyrrolidinyl)pyridine
Micotine
MolPort-000-744-731
N3876_SIGMA
N5511_FLUKA
N5511_SIGMA
NCGC00090693-01
NCGC00090693-02
NCGC00090693-03
NCGC00090693-04
NCGC00090693-05
NCGC00090693-06
NCGC00090693-07
NCT
NICOTINE AND SALTS
NSC 5065
NSC97238
Niagara P.A. Dust
Nic-Sal
Nico-Dust
Nico-Fume
Nicocide
Nicoderm
Nicoderm Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotrol
Nicotrol Inhaler
Nicotrol Ns
Nictoine patch
Nikotin
Nikotin [German]
Nikotyna
Nikotyna [Polish]
Ortho N-4 Dust
Ortho N-5 Dust
PDSP1_000113
PDSP1_000465
PDSP2_000463
PDSP2_000555
Prostep
R)-(+)-Nicotine
RCRA waste no. P075
RCRA waste number P075
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Tendust
Transdermal Nicotine
UN1654
a -N-Methylpyrrolidine
a-N-Methylpyrrolidine
alpha-N-Methylpyrrolidine
beta-Pyridyl-alpha-N-methyl pyrrolidine
beta-Pyridyl-alpha-N-methylpyrrolidine
bmse000105
delta-Nicotine
nicotine
nicotine replacement patch
11Nicotinic AgonistsPhase 1902
12Peripheral Nervous System AgentsPhase 122776
13Central Nervous System StimulantsPhase 12132
14Autonomic AgentsPhase 19774
15Cholinergic AgentsPhase 13846
16Neurotransmitter AgentsPhase 117734

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine BoosterUnknown statusNCT00870350Phase 4
2Single Doses of ZP4207 Adm. sc to Hypoglycemic TD1 pt. to Describe the PK and PD of ZP4207 as Comp. to Marketed GlucagonCompletedNCT02660008Phase 2
3Nicotine Patch - Bioequivalence StudyCompletedNCT02089308Phase 1
4Nicotine Patch - Multidose Bioequivalence StudyCompletedNCT01658215Phase 1
5Nicotine Patch Bioequivalence StudyCompletedNCT01658202Phase 1

Search NIH Clinical Center for Thanatophoric Dysplasia, Type I


Cochrane evidence based reviews: thanatophoric dysplasia

Genetic Tests for Thanatophoric Dysplasia, Type I

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Genetic tests related to Thanatophoric Dysplasia, Type I:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type 126
2 Thanatophoric Dysplasia24 FGFR3
3 Thanatophoric Dysplasia Type I24 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type I

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

35
Skin, Bone, Lung, Eye, Heart, Kidney, Brain

Animal Models for Thanatophoric Dysplasia, Type I or affiliated genes

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MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

40 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6CBL, FGF8, FGFR2, FGFR3
2MP:00028739.1COMP, FGF8, FGFR2, FGFR3, STAT1
3MP:00053819.1FGF8, FGFR2, FGFR3, PTH1R, STAT1
4MP:00053829.0CBL, FGF8, FGFR2, FGFR3, PTH1R
5MP:00053699.0CBL, COMP, FGF8, FGFR2, STAT1
6MP:00053888.9CBL, FGF8, FGFR2, FGFR3, PTH1R
7MP:00053878.7CBL, COMP, FGF8, FGFR2, FGFR3, STAT1
8MP:00053848.4CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
9MP:00053788.1CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
10MP:00053768.1CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
11MP:00053718.1CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
12MP:00107687.7CBL, FGF13, FGF8, FGFR2, FGFR3, PTH1R
13MP:00053867.3CBL, COMP, FGF13, FGF8, FGFR2, FGFR3
14MP:00053907.2CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R

Publications for Thanatophoric Dysplasia, Type I

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Articles related to Thanatophoric Dysplasia, Type I:

(show all 24)
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
Thanatophoric dysplasia type I: a rare case report at fetal autopsy. (25328339)
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
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. (21253318)
2010
8
Stippling: a first trimester marker for thanatophoric dysplasia type I. (20954151)
2010
9
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. (20704477)
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
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 with syndactyly. (9843049)
1998
21
Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. (9481650)
1998
22
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. (10671061)
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

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

69
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148rs121913482
2FGFR3p.Ser249CysVAR_004149rs121913483
3FGFR3p.Gly370CysVAR_004151rs121913479
4FGFR3p.Ser371CysVAR_004152rs121913484
5FGFR3p.Tyr373CysVAR_004153rs121913485
6FGFR3p.Lys650MetVAR_004161rs121913105

Clinvar genetic disease variations for Thanatophoric Dysplasia, Type I:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
2FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)SNVPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
3FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)SNVPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
4FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)SNVPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)SNVPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
6FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)SNVPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
7FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)SNVPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
8FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)SNVPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
9FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)SNVPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
11FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)SNVPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
12FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)SNVPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
13FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)SNVPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia, Type I

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

Pathways for genes affiliated with Thanatophoric Dysplasia, Type I

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

(show all 31)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR2, FGFR3
29.8FGFR2, FGFR3
3
Show member pathways
9.6CBL, STAT1
49.6CBL, STAT1
59.6CBL, STAT1
69.3CBL, FGFR2, FGFR3
79.3CBL, FGFR2, FGFR3
89.2CBL, FGFR2, STAT1
9
Show member pathways
9.2FGF8, FGFR2, FGFR3
109.2FGF8, FGFR2, FGFR3
119.1FGFR3, PTH1R, STAT1
12
Show member pathways
8.8FGF8, FGFR2, FGFR3, STAT1
13
Show member pathways
8.8CBL, FGF8, FGFR2, FGFR3
14
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
158.4FGF13, FGF8, FGFR2, FGFR3
16
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
17
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
188.4FGF13, FGF8, FGFR2, FGFR3
19
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
20
Show member pathways
8.4CBL, FGF8, FGFR2, FGFR3, STAT1
21
Show member pathways
8.3CBL, FGF13, FGF8, FGFR2
22
Show member pathways
8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
23
Show member pathways
8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
24
Show member pathways
8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
258.0CBL, FGF13, FGF8, FGFR2, FGFR3
26
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
27
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
287.9COMP, FGF13, FGF8, FGFR2, FGFR3
297.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
30
Show member pathways
7.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
31
Show member pathways
7.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1

GO Terms for genes affiliated with Thanatophoric Dysplasia, Type I

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.9COMP, FGF13, FGF8, FGFR2, FGFR3

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:001051810.3FGFR2, FGFR3
2JAK-STAT cascadeGO:000725910.2FGFR3, STAT1
3outflow tract septum morphogenesisGO:000314810.2FGF8, FGFR2
4cell fate commitmentGO:004516510.2FGF8, FGFR2
5otic vesicle formationGO:003091610.2FGF8, FGFR2
6positive regulation of mesenchymal cell proliferationGO:000205310.2FGFR2, STAT1
7odontogenesisGO:004247610.1FGF8, FGFR2
8bone morphogenesisGO:006034910.1FGFR2, FGFR3
9positive regulation of cell divisionGO:005178110.1FGF8, FGFR2
10bone developmentGO:006034810.1FGF8, FGFR2
11branching involved in salivary gland morphogenesisGO:006044510.1FGF8, FGFR2
12chondrocyte differentiationGO:000206210.0FGFR3, PTH1R
13inner ear morphogenesisGO:004247210.0FGF8, FGFR2
14phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.9FGF8, FGFR2, FGFR3
15phosphatidylinositol phosphorylationGO:00468549.8FGF8, FGFR2, FGFR3
16regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8FGF8, FGFR2, FGFR3
17phosphatidylinositol-mediated signalingGO:00480159.8FGF8, FGFR2, FGFR3
18peptidyl-tyrosine phosphorylationGO:00181089.7FGF8, FGFR2, FGFR3
19bone mineralizationGO:00302829.6FGFR2, FGFR3, PTH1R
20fibroblast growth factor receptor signaling pathwayGO:00085439.3CBL, FGF8, FGFR2, FGFR3
21skeletal system developmentGO:00015019.3COMP, FGFR3, PTH1R
22cell-cell signalingGO:00072679.3FGF13, FGFR2, FGFR3
23positive regulation of ERK1 and ERK2 cascadeGO:00703748.9FGF8, FGFR2, FGFR3
24apoptotic processGO:00069158.7COMP, FGF8, FGFR2, STAT1
25MAPK cascadeGO:00001658.6FGF13, FGF8, FGFR2, FGFR3
26positive regulation of cell proliferationGO:00082848.2FGF8, FGFR2, FGFR3, PTH1R, STAT1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.4FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.8FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.7FGF8, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6FGF8, FGFR2, FGFR3
5Ras guanyl-nucleotide exchange factor activityGO:00050889.2FGF8, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047138.9FGF8, FGFR2, FGFR3

Sources for Thanatophoric Dysplasia, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet