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

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Aliases & Descriptions for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 52 12 68
Thanatophoric Dysplasia 11 71 23 48 24 25 54 50 39 13
Thanatophoric Dwarfism 48 25 54 70
Thanatophoric Dysplasia Type I 48 24 70
Thanatophoric Dysplasia Type 1 48 54
Thanatophoric Dysplasia 1 70 27
Td1 54 70
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 70
 
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 70
Thanatophoric Dwarfism Type 1 54
Thanatophoric Short Stature 25
Thanatophoric Dwarfism 1 48
Dwarfism Thanatophoric 48
Dwarf, Thanatophoric 25
Tdi 24
Td 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 187600
Disease Ontology11 DOID:13481
ICD1030 Q77.1
MeSH39 D013796
NCIt45 C85187
SNOMED-CT62 29352008
UMLS via Orphanet69 C0039743, C2931282
ICD10 via Orphanet31 Q77.1

Summaries for Thanatophoric Dysplasia, Type I

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Alzheimers Disease Pathway and Interferon type I signaling pathways. 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.

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

UniProtKB/Swiss-Prot:70 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 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1pharyngitis29.4FGFR2, PTH1R
2thanatophoric dysplasia, type ii12.5
3platyspondylic skeletal dysplasia, torrance type11.2
4asthma10.3
5familial porphyria cutanea tarda10.2FGFR2, FGFR3
6hartsfield syndrome10.2FGFR2, FGFR3
7pointer syndrome10.2FGFR2, FGFR3
8antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGFR2, FGFR3
9cervical spinal canal and spinal cord meningioma10.2FGFR2, FGFR3
10osteoglophonic dysplasia10.2FGFR2, FGFR3
11huntington disease10.2FGFR3, STAT1
12aica-ribosiduria due to atic deficiency10.2FGFR2, FGFR3
13crouzon syndrome with acanthosis nigricans10.2FGFR2, FGFR3
14lingual-facial-buccal dyskinesia10.1FGFR2, FGFR3
1513q12.3 microdeletion syndrome10.1FGFR3, PTH1R
16leg dermatosis10.1FGFR2, FGFR3
17vitelliform macular dystrophy10.1COMP, FGFR3
18cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.1CBL, STAT1
19robinow-sorauf syndrome10.1CBL, FGFR2, FGFR3
20scaphocephaly, maxillary retrusion, and mental retardation10.0FGFR2, FGFR3
21candidiasis, familial, 310.0FGF8, FGFR3
22sp7-related osteogenesis imperfecta10.0COMP, FGFR2, FGFR3
23neuropathy, distal hereditary motor, type iia10.0COMP, FGFR3
24apert syndrome10.0FGF13, FGFR2, FGFR3
25bone structure disease10.0COMP, FGFR2, FGFR3
26toenail dystrophy, isolated10.0FGFR3, PTH1R
27slti salem syndrome9.9COMP, FGFR3, PTH1R
28saddan9.9FGF8, FGFR2, FGFR3
29hypogonadotropic hypogonadism 2 with or without anosmia9.9FGF8, FGFR2, FGFR3
30cutaneous leishmaniasis9.9FGF8, FGFR2, FGFR3
31renal dysplasia9.9
32achondroplasia9.8
33hypochondroplasia9.8
34syndactyly9.8
35dwarfism9.8
36skeletal dysplasias9.8
37skeletal dysplasia9.8
38tetralogy of fallot9.7
39pulmonary hypertension9.7
40thalassemia9.7
41allergic asthma9.7
42thalassemia major9.7
43endotheliitis9.7
44cervical cancer, somatic9.7FGF13, FGF8, FGFR2, FGFR3
45muenke syndrome8.9CBL, 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

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Symptoms by clinical synopsis from OMIM:

187600

Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

 54 64 (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney64 54 Occasional (29-5%) HP:0000077
2 hydrocephalus64 54 Occasional (29-5%) HP:0000238
3 macrocephaly64 54 Very frequent (99-80%) HP:0000256
4 hearing impairment64 54 Frequent (79-30%) HP:0000365
5 low-set ears64 54 Occasional (29-5%) HP:0000369
6 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
7 proptosis64 54 Frequent (79-30%) HP:0000520
8 narrow chest64 54 Very frequent (99-80%) HP:0000774
9 platyspondyly64 54 Very frequent (99-80%) HP:0000926
10 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
11 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
12 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
13 seizures64 54 Occasional (29-5%) HP:0001250
14 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
15 hip dysplasia64 54 Occasional (29-5%) HP:0001385
16 joint stiffness64 54 Occasional (29-5%) HP:0001387
17 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
18 polyhydramnios64 54 Occasional (29-5%) HP:0001561
19 redundant skin64 54 Very frequent (99-80%) HP:0001582
20 atria septal defect54 Occasional (29-5%)
21 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
22 frontal bossing64 54 Frequent (79-30%) HP:0002007
23 pulmonary hypoplasia64 54 Very frequent (99-80%) HP:0002089
24 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
25 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
26 intellectual disability, profound64 54 Very frequent (99-80%) HP:0002187
27 heterotopia64 54 Frequent (79-30%) HP:0002282
28 malformation of the heart and great vessels54 Occasional (29-5%)
29 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
30 cloverleaf skull64 54 Occasional (29-5%) HP:0002676
31 kyphosis64 54 Occasional (29-5%) HP:0002808
32 abnormality of the ilium54 Occasional (29-5%)
33 micromelia64 54 Very frequent (99-80%) HP:0002983
34 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
35 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
36 disproportionate short-limb short stature64 54 Very frequent (99-80%) HP:0008873
37 short thorax64 54 Very frequent (99-80%) HP:0010306
38 increased nuchal translucency64 54 Very frequent (99-80%) HP:0010880
39 midface retrusion64 54 Frequent (79-30%) HP:0011800
40 flat face64 54 Very frequent (99-80%) HP:0012368
41 abnormality of the sacroiliac joint64 54 Occasional (29-5%) HP:0100781
42 wide anterior fontanel64 54 Frequent (79-30%) HP:0000260
43 hypoplastic ilia64 54 Very frequent (99-80%) HP:0000946
44 split hand64 54 Very frequent (99-80%) HP:0001171
45 femoral bowing64 54 Very frequent (99-80%) HP:0002980
46 short femur64 54 Very frequent (99-80%) HP:0003097
47 short sacroiliac notch64 54 Very frequent (99-80%) HP:0003185
48 bowing of the long bones64 54 Very frequent (99-80%) HP:0006487
49 aplasia/hypoplasia of the lungs64 54 Frequent (79-30%) HP:0006703
50 excessive wrinkled skin64 54 Frequent (79-30%) HP:0007392
51 lethal short-limbed short stature64 54 Very frequent (99-80%) HP:0008909
52 small face64 HP:0000274
53 short ribs64 HP:0000773
54 wide-cupped costochondral junctions64 HP:0000910
55 global developmental delay64 HP:0001263
56 decreased fetal movement64 HP:0001558
57 small foramen magnum64 HP:0002677
58 flared metaphysis64 HP:0003015
59 metaphyseal irregularity64 HP:0003025
60 short long bone64 HP:0003026
61 severe short stature64 HP:0003510
62 severe platyspondyly64 HP:0004565
63 small abnormally formed scapulae64 HP:0006584
64 atrial septal defect64 HP:0001631

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4CBL, FGF8, FGFR2, FGFR3
2MP:00053828.8CBL, FGF8, FGFR2, FGFR3, PTH1R
3MP:00028738.7COMP, FGF8, FGFR2, FGFR3, STAT1
4MP:00053818.7FGF8, FGFR2, FGFR3, PTH1R, STAT1
5MP:00053698.7CBL, COMP, FGF8, FGFR2, STAT1
6MP:00053888.6CBL, FGF8, FGFR2, FGFR3, PTH1R
7MP:00053848.4CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
8MP:00053878.4CBL, COMP, FGF8, FGFR2, FGFR3, STAT1
9MP:00053787.8CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
10MP:00053767.8CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
11MP:00053717.8CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R
12MP:00107687.7CBL, FGF13, FGF8, FGFR2, FGFR3, PTH1R
13MP:00053867.3CBL, COMP, FGF13, FGF8, FGFR2, FGFR3
14MP:00053906.9CBL, COMP, FGF8, FGFR2, FGFR3, PTH1R

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 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46611
2
Ustekinumabapproved, investigationalPhase 288815610-63-0
Synonyms:
 
Stelera
3HormonesPhase 214415
4IncretinsPhase 21579
5Hypoglycemic AgentsPhase 25896
6Hormone AntagonistsPhase 213180
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
8Glucagon-Like Peptide 1Phase 2715
9Gastrointestinal AgentsPhase 28402
10Dermatologic AgentsPhase 25806
11glucagonPhase 2478
12
NicotineapprovedPhase 1110354-11-5942, 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
13Nicotinic AgonistsPhase 1945
14Peripheral Nervous System AgentsPhase 123689
15Central Nervous System StimulantsPhase 12211
16Autonomic AgentsPhase 110150
17Cholinergic AgentsPhase 13992
18Neurotransmitter AgentsPhase 118340

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine BoosterUnknown statusNCT00870350Phase 4
2Study of Tolerability and Safety of Adding Ustekinumab to INGAP Peptide for 12 Weeks in Adult Patients With TD1 MelitisCompletedNCT02204397Phase 2
3Single Doses of ZP4207 Adm. sc to Hypoglycemic TD1 pt. to Describe the PK and PD of ZP4207 as Comp. to Marketed GlucagonCompletedNCT02660008Phase 2
4Nicotine Patch - Bioequivalence StudyCompletedNCT02089308Phase 1
5Nicotine Patch - Multidose Bioequivalence StudyCompletedNCT01658215Phase 1
6Nicotine 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 127
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:

36
Skin, Bone, Lung, Eye, Heart, Kidney, Brain

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
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

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

70
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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_ 000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenic/ Likely pathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
2FGFR3NM_ 000142.4(FGFR3): c.1111A> T (p.Ser371Cys)SNVPathogenic/ Likely pathogenicrs121913484GRCh37Chr 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)SNVPathogenicrs121913101GRCh38Chr 4, 1807260: 1807260
5FGFR3NM_ 000142.4(FGFR3): c.2421A> T (p.Ter807Cys)SNVPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
6FGFR3NM_ 000142.4(FGFR3): c.746C> G (p.Ser249Cys)SNVPathogenic/ Likely pathogenicrs121913483GRCh37Chr 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)SNVPathogenic/ Likely pathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
9FGFR3NM_ 000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenic/ Likely pathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10FGFR3NM_ 000142.4(FGFR3): c.1620C> A (p.Asn540Lys)SNV, HaplotypePathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
11FGFR3NM_ 000142.4(FGFR3): c.2419T> C (p.Ter807Arg)SNVPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
12FGFR3NM_ 000142.4(FGFR3): c.2420G> T (p.Ter807Leu)SNVPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
13FGFR3NM_ 000142.4(FGFR3): c.2421A> C (p.Ter807Cys)SNVPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
14FGFR3NM_ 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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR2, FGFR3
29.6CBL, STAT1
3
Show member pathways
9.6CBL, STAT1
4
Show member pathways
9.6CBL, STAT1
59.6CBL, STAT1
69.3CBL, FGFR2, FGFR3
79.3CBL, FGFR2, FGFR3
8
Show member pathways
9.3FGF8, FGFR3
99.2CBL, FGFR2, STAT1
109.1FGFR3, PTH1R, STAT1
11
Show member pathways
8.9FGF8, FGFR2, FGFR3
128.9FGF8, FGFR2, FGFR3
13
Show member pathways
8.5CBL, FGF8, FGFR2, FGFR3
14
Show member pathways
8.5CBL, FGF8, FGFR2, FGFR3
15
Show member pathways
8.5CBL, FGF8, FGFR2, FGFR3
16
Show member pathways
8.5FGF8, FGFR2, FGFR3, STAT1
17
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
18
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
19
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
20
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
21
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
22
Show member pathways
8.4FGF13, FGF8, FGFR2, FGFR3
23
Show member pathways
8.1CBL, FGF8, FGFR2, FGFR3, STAT1
24
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
25
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
268.0CBL, FGF13, FGF8, FGFR2, FGFR3
27
Show member pathways
8.0CBL, FGF13, FGF8, FGFR2, FGFR3
28
Show member pathways
8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
29
Show member pathways
8.0FGF13, FGF8, FGFR2, FGFR3, STAT1
307.9COMP, FGF13, FGF8, FGFR2, FGFR3
31
Show member pathways
7.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
32
Show member pathways
7.5CBL, FGF13, FGF8, FGFR2, FGFR3, STAT1
337.5CBL, 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
1axonGO:00304249.1CBL, FGF13, STAT1

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1bone morphogenesisGO:006034910.5FGFR2, FGFR3
2endochondral bone growthGO:000341610.5FGFR2, FGFR3
3JAK-STAT cascadeGO:000725910.4FGFR3, STAT1
4positive regulation of phospholipase activityGO:001051810.4FGFR2, FGFR3
5positive regulation of mesenchymal cell proliferationGO:000205310.3FGFR2, STAT1
6chondrocyte differentiationGO:000206210.2FGFR3, PTH1R
7positive regulation of smooth muscle cell proliferationGO:004866110.2FGFR2, STAT1
8bone developmentGO:006034810.0FGF8, FGFR2
9branching involved in salivary gland morphogenesisGO:006044510.0FGF8, FGFR2
10cell fate commitmentGO:004516510.0FGF8, FGFR2
11odontogenesisGO:004247610.0FGF8, FGFR2
12otic vesicle formationGO:003091610.0FGF8, FGFR2
13outflow tract septum morphogenesisGO:000314810.0FGF8, FGFR2
14positive regulation of cell divisionGO:005178110.0FGF8, FGFR2
15cell-cell signalingGO:000726710.0FGF13, FGFR2, FGFR3
16bone mineralizationGO:00302829.9FGFR2, FGFR3, PTH1R
17peptidyl-tyrosine phosphorylationGO:00181089.7FGF8, FGFR2, FGFR3
18phosphatidylinositol phosphorylationGO:00468549.6FGF8, FGFR2, FGFR3
19phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.6FGF8, FGFR2, FGFR3
20phosphatidylinositol-mediated signalingGO:00480159.6FGF8, FGFR2, FGFR3
21positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGF8, FGFR2, FGFR3
22regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5FGF8, FGFR2, FGFR3
23fibroblast growth factor receptor signaling pathwayGO:00085439.3CBL, FGF8, FGFR2, FGFR3
24MAPK cascadeGO:00001659.1FGF13, FGF8, FGFR2, FGFR3
25skeletal system developmentGO:00015019.0COMP, FGFR3, PTH1R
26positive regulation of cell proliferationGO:00082849.0FGF8, FGFR2, FGFR3, PTH1R
27apoptotic processGO:00069158.7COMP, FGF8, FGFR2, FGFR3, STAT1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.4FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:000500710.4FGFR2, FGFR3
3transmembrane receptor protein tyrosine kinase activityGO:00047149.8FGFR2, FGFR3
41-phosphatidylinositol-3-kinase activityGO:00163039.6FGF8, FGFR2, FGFR3
5phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6FGF8, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047139.5FGF8, FGFR2, FGFR3
7Ras guanyl-nucleotide exchange factor activityGO:00050889.4FGF8, FGFR2, FGFR3

Sources for Thanatophoric Dysplasia, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet