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 50 12 66
Thanatophoric Dysplasia 11 69 22 46 23 24 13 52 48 37
Thanatophoric Dwarfism 46 24 52 68
Thanatophoric Dysplasia Type I 46 23 68
Thanatophoric Dysplasia Type 1 46 52
Thanatophoric Dysplasia 1 68 25
Td1 52 68
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 68
 
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 68
Thanatophoric Dwarfism Type 1 52
Thanatophoric Short Stature 24
Thanatophoric Dwarfism 1 46
Dwarfism Thanatophoric 46
Dwarf, Thanatophoric 24
Tdi 23
Td 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
thanatophoric dysplasia, type i:
Inheritance: autosomal dominant inheritance
Mortality/Aging: neonatal death


Classifications:



External Ids:

OMIM50 187600
Disease Ontology11 DOID:13481
ICD1028 Q77.1
MeSH37 D013796
NCIt43 C85187
SNOMED-CT60 29352008
ICD10 via Orphanet29 Q77.1
UMLS via Orphanet67 C0039743, C2931282

Summaries for Thanatophoric Dysplasia, Type I

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NIH Rare Diseases:46 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 craniofacial.

Disease Ontology:11 An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187600) more...

Wikipedia:69 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type ii33.7FGF8, FGFR2, FGFR3
2hypochondroplasia29.7FGFR2, FGFR3, PTH1R
3platyspondylic skeletal dysplasia, torrance type11.3
4flnb-related disorders10.4FGFR2, FGFR3
5plasmalogens synthesis deficiency isolated10.4FGFR2, FGFR3
6asthma10.4
7trigonocephaly 110.4FGFR2, FGFR3
8mite infestation10.4FGFR2, FGFR3
9bladder cancer, somatic10.4FGFR2, FGFR3
10saddan10.3FGFR3, STAT1
11apert syndrome10.3FGFR2, FGFR3
12hypogonadotropic hypogonadism 2 with or without anosmia10.3FGFR2, FGFR3
13accommodative esotropia10.3FGFR2, FGFR3
14thanatophoric dysplasia, type i10.2FGFR2, FGFR3
15neuropathy, distal hereditary motor, type iia10.2COMP, FGFR3
16glaucomatocyclitic crisis10.2FGFR2, FGFR3
17antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGFR2, FGFR3
18atrioventricular septal defect10.2COMP, FGFR3
19scleredema adultorum10.1FGFR2, FGFR3
20beare-stevenson cutis gyrata syndrome10.1FGFR2, FGFR3
21craniosynostosis, type 110.1CBL, FGFR2, FGFR3
22renal dysplasia10.0
23achondroplasia10.0
24syndactyly10.0
25dwarfism10.0
26skeletal dysplasias10.0
27skeletal dysplasia10.0
28ischemic bone disease9.9COMP, FGFR2, FGFR3
29jackson-weiss syndrome9.9FGF8, FGFR2, FGFR3
30crohn's disease9.9FGF8, FGFR2, FGFR3
31tetralogy of fallot9.8
32pulmonary hypertension9.8
33thalassemia9.8
34pharyngitis9.8
35allergic asthma9.8
36thalassemia major9.8
37endotheliitis9.8
38toenail dystrophy, isolated9.8FGFR3, PTH1R
39osteopathia striata with pigmentary dermopathy including white forelock9.7COMP, FGFR3, PTH1R
40vulvovaginal candidiasis9.7COMP, FGFR3, PTH1R
41central nervous system leukemia9.7FGF13, FGFR2, FGFR3
42mild phosphoribosylpyrophosphate synthetase superactivity9.6FGFR3, PTH1R
43crouzon syndrome with acanthosis nigricans7.2CBL, 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

Symptoms:

 52 (show all 51)
  • abnormality of the kidney
  • hydrocephalus
  • macrocephaly
  • hearing impairment
  • low-set ears
  • downslanted palpebral fissures
  • proptosis
  • narrow chest
  • platyspondyly
  • abnormality of the metaphyses
  • acanthosis nigricans
  • brachydactyly syndrome
  • seizures
  • muscular hypotonia
  • hip dysplasia
  • joint stiffness
  • intrauterine growth retardation
  • polyhydramnios
  • redundant skin
  • defect in the atrial septum
  • patent ductus arteriosus
  • frontal bossing
  • pulmonary hypoplasia
  • respiratory insufficiency
  • ventriculomegaly
  • intellectual disability, profound
  • heterotopia
  • malformation of the heart and great vessels
  • skeletal dysplasia
  • cloverleaf skull
  • kyphosis
  • abnormality of the ilium
  • micromelia
  • depressed nasal bridge
  • joint hyperflexibility
  • disproportionate short-limb short stature
  • short thorax
  • increased nuchal translucency
  • midface retrusion
  • flat face
  • abnormality of the sacroiliac joint
  • wide anterior fontanel
  • hypoplastic ilia
  • split hand
  • femoral bowing
  • short femur
  • short sacroiliac notch
  • bowing of the long bones
  • aplasia/hypoplasia of the lungs
  • excessive wrinkled skin
  • lethal short-limbed short stature

HPO human phenotypes related to Thanatophoric Dysplasia, Type I:

(show all 76)
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 cutis laxa hallmark (90%) HP:0000973
7 brachydactyly syndrome hallmark (90%) HP:0001156
8 split hand hallmark (90%) HP:0001171
9 muscular hypotonia hallmark (90%) HP:0001252
10 respiratory insufficiency hallmark (90%) HP:0002093
11 skeletal dysplasia hallmark (90%) HP:0002652
12 abnormality of the femur hallmark (90%) HP:0002823
13 micromelia hallmark (90%) HP:0002983
14 short stature hallmark (90%) HP:0004322
15 depressed nasal bridge hallmark (90%) HP:0005280
16 bowing of the long bones hallmark (90%) HP:0006487
17 short thorax hallmark (90%) HP:0010306
18 cognitive impairment hallmark (90%) HP:0100543
19 abnormality of the sacroiliac joint hallmark (90%) HP:0100781
20 abnormality of the metaphyses hallmark (90%) HP:0000944
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 atria septal defect 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 hydrocephalus HP:0000238
52 macrocephaly HP:0000256
53 small face HP:0000274
54 short ribs HP:0000773
55 narrow chest HP:0000774
56 wide-cupped costochondral junctions HP:0000910
57 hypoplastic ilia HP:0000946
58 muscular hypotonia HP:0001252
59 global developmental delay HP:0001263
60 decreased fetal movement HP:0001558
61 polyhydramnios HP:0001561
62 frontal bossing HP:0002007
63 respiratory insufficiency HP:0002093
64 intellectual disability, profound HP:0002187
65 heterotopia HP:0002282
66 cloverleaf skull HP:0002676
67 small foramen magnum HP:0002677
68 flared metaphysis HP:0003015
69 metaphyseal irregularity HP:0003025
70 short long bone HP:0003026
71 short sacroiliac notch HP:0003185
72 severe short stature HP:0003510
73 severe platyspondyly HP:0004565
74 bowing of the long bones HP:0006487
75 small abnormally formed scapulae HP:0006584
76 lethal short-limbed short stature HP:0008909

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1glucagonPhase 2441
2
NicotinePhase 1101654-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(+-)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(+-)-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
(R,S)-nicotine
(RS)-nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(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-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-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

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine BoosterActive, not recruitingNCT00870350Phase 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 125
2 Thanatophoric Dysplasia23 FGFR3
3 Thanatophoric Dysplasia Type I23 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type I

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

34
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:

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3CBL, FGF8, FGFR2, FGFR3
2MP:00053828.6CBL, FGF8, FGFR2, FGFR3, PTH1R
3MP:00053698.5CBL, COMP, FGF8, FGFR2, STAT1
4MP:00053888.5CBL, FGF8, FGFR2, FGFR3, PTH1R
5MP:00053818.4FGF8, FGFR2, FGFR3, PTH1R, STAT1
6MP:00028738.4COMP, FGF8, FGFR2, FGFR3, STAT1
7MP:00053878.3CBL, COMP, FGF8, FGFR2, FGFR3, STAT1
8MP:00053847.9CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
9MP:00053787.3CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
10MP:00053907.2CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
11MP:00053767.1CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
12MP:00107687.1CBL, FGF13, FGF8, FGFR2, FGFR3, PTH1R
13MP:00053716.9CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
14MP:00053866.4CBL, COMP, FGF13, FGF8, FGFR2, FGFR3

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:

68
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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
2FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
3FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
4FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
6FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
7FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
8FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
9FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
10FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
11FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
12FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
13FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
14FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
15FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 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 35)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR2, FGFR3
29.8FGFR2, FGFR3
39.6CBL, STAT1
49.6CBL, STAT1
59.6CBL, STAT1
6
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9.6CBL, STAT1
7
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9.6FGF8, FGFR3
89.3CBL, FGFR2, FGFR3
99.3CBL, FGFR2, FGFR3
109.2CBL, FGFR2, STAT1
11
Show member pathways
9.2FGF8, FGFR2, FGFR3
12
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9.2FGF8, FGFR2, FGFR3
139.2FGF8, FGFR2, FGFR3
149.1FGFR3, PTH1R, STAT1
15
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8.8FGF8, FGFR2, FGFR3, STAT1
16
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8.8CBL, FGF8, FGFR2, FGFR3
17
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8.4FGF13, FGF8, FGFR2, FGFR3
18
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8.4FGF13, FGF8, FGFR2, FGFR3
198.4FGF13, FGF8, FGFR2, FGFR3
20
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
218.4FGF13, FGF8, FGFR2, FGFR3
22
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8.4FGF13, FGF8, FGFR2, FGFR3
23
Show member pathways
8.4CBL, FGF8, FGFR2, FGFR3, STAT1
24
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8.4CBL, FGF8, FGFR2, FGFR3, STAT1
25
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8.3CBL, FGF13, FGF8, FGFR2
26
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8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
27
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8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
28
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8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
29
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
30
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
318.0CBL, FGF13, FGF8, FGFR2, FGFR3
327.9COMP, FGF13, FGF8, FGFR2, FGFR3
337.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
34
Show member pathways
7.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
35
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
1JAK-STAT cascadeGO:000725910.3FGFR3, STAT1
2positive regulation of phospholipase activityGO:001051810.2FGFR2, FGFR3
3outflow tract septum morphogenesisGO:000314810.2FGF8, FGFR2
4cell fate commitmentGO:004516510.2FGF8, FGFR2
5positive regulation of mesenchymal cell proliferationGO:000205310.2FGFR2, STAT1
6otic vesicle formationGO:003091610.2FGF8, FGFR2
7bone developmentGO:006034810.1FGF8, FGFR2
8positive regulation of cell divisionGO:005178110.1FGF8, FGFR2
9odontogenesisGO:004247610.1FGF8, FGFR2
10branching involved in salivary gland morphogenesisGO:006044510.1FGF8, FGFR2
11bone morphogenesisGO:006034910.0FGFR2, FGFR3
12chondrocyte differentiationGO:000206210.0FGFR3, PTH1R
13phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.9FGF8, FGFR2, FGFR3
14phosphatidylinositol phosphorylationGO:00468549.8FGF8, FGFR2, FGFR3
15regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8FGF8, FGFR2, FGFR3
16inner ear morphogenesisGO:00424729.8FGF8, FGFR2
17phosphatidylinositol-mediated signalingGO:00480159.8FGF8, FGFR2, FGFR3
18peptidyl-tyrosine phosphorylationGO:00181089.6FGF8, FGFR2, FGFR3
19bone mineralizationGO:00302829.5FGFR2, FGFR3, PTH1R
20cell-cell signalingGO:00072679.3FGF13, FGFR2, FGFR3
21fibroblast growth factor receptor signaling pathwayGO:00085439.3CBL, FGF8, FGFR2, FGFR3
22positive regulation of ERK1 and ERK2 cascadeGO:00703749.2FGF8, FGFR2, FGFR3
23skeletal system developmentGO:00015019.2COMP, FGFR3, PTH1R
24MAPK cascadeGO:00001658.7FGF13, FGF8, FGFR2, FGFR3
25apoptotic processGO:00069158.3COMP, FGF8, FGFR2, STAT1
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:000500710.3FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.8FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.7FGF8, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.5FGF8, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet