MCID: THN009
MIFTS: 61

Thanatophoric Dysplasia, Type I malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Thanatophoric Dysplasia, Type I

About this section
Sources:
49OMIM, 11diseasecard, 65UMLS, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 49 11 65
Thanatophoric Dysplasia 10 68 21 45 22 23 47 12 51 36
Thanatophoric Dysplasia Type I 45 22 24 67
Thanatophoric Dwarfism 45 23 51 67
Thanatophoric Dysplasia Type 1 45 51
Dwarf, Thanatophoric 68 23
Td1 51 67
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 67
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 67
 
Thanatophoric Dwarfism Type 1 51
Td - Thanatophoric Dwarfism 68
Thanatophoric Short Stature 23
Thanatophoric Dysplasia 1 67
Thanatophoric Dwarfism 1 45
Dwarfism Thanatophoric 45
Tdi 22
Td 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 187600
Disease Ontology10 DOID:13481
NCIt42 C85187
MeSH36 D013796
Orphanet51 2655, 1860
SNOMED-CT59 29352008
ICD10 via Orphanet28 Q77.1
UMLS via Orphanet66 C0039743, C2931282
ICD1027 Q77.1

Summaries for Thanatophoric Dysplasia, Type I

About this section
NIH Rare Diseases:45 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 Interferon type I and . Affiliated tissues include skin, bone and lung, and related mouse phenotypes are tumorigenesis and normal.

Disease Ontology:10 An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

Genetics Home Reference:23 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:49 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187600) more...

UniProtKB/Swiss-Prot:67 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:68 Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small... more...

GeneReviews summary for td

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 top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type ii31.6FGFR3, STAT1
2hypochondroplasia30.3FGFR1, FGFR2, FGFR3
3crouzon syndrome29.8FGF2, FGFR1, FGFR2, FGFR3
4achondroplasia29.6COMP, FGFR1, FGFR2, FGFR3, PTH1R
5asthma10.6
6thanatophoric dysplasia glasgow variant10.5
7platyspondylic skeletal dysplasia, torrance type10.4
8encephalocele10.4
9achondrogenesis10.3
10syndactyly10.3
11dwarfism10.3
12skeletal dysplasias10.3
13skeletal dysplasia10.3
14osteogenesis imperfecta10.3
15cerebritis10.3
16skeletal dysplasia, san diego type10.3
17megalencephaly10.3
18hypophosphatasia10.2
19von economo's disease10.2FGFR2, FGFR3
20beare-stevenson cutis gyrata syndrome10.2FGFR2, FGFR3
21barbiturate abuse10.2FGFR2, FGFR3
22saddan10.2
23osteogenesis imperfecta, type ii10.2
24atherosclerosis10.2
25holoprosencephaly10.2
26hydrocephalus10.2
27spinal cord injury10.2
28choroiditis10.2
29chorioangioma10.2
30acanthosis nigricans10.2
31micromelic bone dysplasia with cloverleaf skull10.2
32semilobar holoprosencephaly10.2
33renal dysplasia10.2
34gonococcal iridocyclitis10.1FGFR2, FGFR3
35distal arthrogryposis10.1COMP, FGFR3
36hypoglycemia10.1
37adjustment disorder10.1
38glucose metabolism disease10.1
39multiple symmetrical lipomatosis10.1FGFR2, FGFR3
40coronary artery disease10.0
41coronary heart disease 510.0
42pick disease10.0
43coronary heart disease 310.0
44peripheral vascular disease10.0
45pulmonary hypertension10.0
46chronic myocardial ischemia10.0
47congestive heart failure10.0
48ischemic heart disease10.0
49thalassemia10.0
50pharyngitis10.0

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:

 51 (show all 49)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • flat face
  • depressed nasal bridge
  • narrow rib cage/thorax
  • short rib cage/thorax
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • rhizomelic micromelia
  • loose skin/skin relaxation/excess skin/creases
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • increased nuchal translucency
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • hearing loss/hypoacusia/deafness
  • short hand/brachydactyly
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • low set ears/posteriorly rotated ears
  • kyphosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacroiliac joints anomalies
  • acanthosis nigricans
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • renal/kidney anomalies
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • polyhydramnios
  • small face
  • trident hand/split hand/abnormal median ray
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • hypotonia
  • bowed diaphysis/diaphyses/long bones
  • rippled skin
  • cloverleaf skull

HPO human phenotypes related to Thanatophoric Dysplasia, Type I:

(show all 78)
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 autosomal dominant inheritance HP:0000006
52 hydrocephalus HP:0000238
53 macrocephaly HP:0000256
54 small face HP:0000274
55 short ribs HP:0000773
56 narrow chest HP:0000774
57 wide-cupped costochondral junctions HP:0000910
58 hypoplastic ilia HP:0000946
59 muscular hypotonia HP:0001252
60 global developmental delay HP:0001263
61 decreased fetal movement HP:0001558
62 polyhydramnios HP:0001561
63 frontal bossing HP:0002007
64 respiratory insufficiency HP:0002093
65 intellectual disability, profound HP:0002187
66 heterotopia HP:0002282
67 cloverleaf skull HP:0002676
68 small foramen magnum HP:0002677
69 flared metaphysis HP:0003015
70 metaphyseal irregularity HP:0003025
71 short long bone HP:0003026
72 short sacroiliac notch HP:0003185
73 severe short stature HP:0003510
74 neonatal death HP:0003811
75 severe platyspondyly HP:0004565
76 bowing of the long bones HP:0006487
77 small abnormally formed scapulae HP:0006584
78 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
1Glucagon-Like Peptide 1Phase 2652
2
NicotineapprovedPhase 192354-11-5942, 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
American Fare Nicotine Transdermal System
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
Careone Nicotine Transdermal System Step 1
Careone Nicotine Transdermal System Step 2
Careone Nicotine Transdermal System Step 3
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
Equaline Nicotine Transdermal System STEP 1
Exchange Select Nicotine Transdermal System STEP 3
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
Habitrol Patch Nicotine Transdermal System, Step 1
Habitrol Patch Nicotine Transdermal System, Step 2
Habitrol Patch Nicotine Transdermal System, Step 3
Healthmart Nicotine Transdermal System STEP 1
Healthmart Nicotine Transdermal System STEP 2
Healthmart Nicotine Transdermal System STEP 3
Kroger Nicotine Transdermal System STEP 1
Kroger Nicotine Transdermal System STEP 2
Kroger Nicotine Transdermal System STEP 3
L(-)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
L-Nicotine
LS-202
Leader Nicotine
Leader Nicotine Transdermal System STEP 1
Leader Nicotine Transdermal System STEP 2
Leader Nicotine Transdermal System STEP 3
MLS001055457
 
MLS001335905
Mach-Nic
Meijer Nicotine Transdermal System STEP 2
Meijer Nicotine Transdermal System Step 1
Meijer Nicotine Transdermal System Step 3
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 Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine TRANSDERMAL SYSTEM
Nicotine Transdermal System PATCH KIT
Nicotine Transdermal System STEP 1
Nicotine Transdermal System STEP 2
Nicotine Transdermal System STEP 3
Nicotine Transdermal System Step 1
Nicotine Transdermal System Step 2
Nicotine Transdermal System Step 3
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotine transdermal system
Nicotrol
Nicotrol (professional Sample)
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
Rite Aid Nicotine Transdermal System Step 1
Rite Aid Nicotine Transdermal System Step 2
Rite Aid Nicotine Transdermal System Step 3
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Safeway Nicotine Transdermal System STEP 1
Safeway Nicotine Transdermal System STEP 2
Safeway Nicotine Transdermal System STEP 3
Smart Sense Nicotine
Sunmark Nicotine
Sunmark Nicotine Transdermal System STEP 1
Sunmark Nicotine Transdermal System STEP 2
Sunmark Nicotine Transdermal System STEP 3
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
3Nicotinic AgonistsPhase 1677

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 GlucagonRecruitingNCT02660008Phase 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 Dysplasia22 FGFR3
2 Thanatophoric Dysplasia Type I22 FGFR3
3 Thanatophoric Dysplasia Type 124

Anatomical Context for Thanatophoric Dysplasia, Type I

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

33
Skin, Bone, Lung, Eye, 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:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7FGF2, FGFR2, FGFR3, STAT1
2MP:00028738.4COMP, FGFR1, FGFR2, FGFR3, STAT1
3MP:00053778.4CBL, FGF2, FGFR1, FGFR2, FGFR3
4MP:00053828.2CBL, FGFR1, FGFR2, FGFR3, PTH1R
5MP:00053818.2FGFR1, FGFR2, FGFR3, PTH1R, STAT1
6MP:00053918.2FGF2, FGFR1, FGFR2, FGFR3, STAT1
7MP:00107718.1CBL, FGFR1, FGFR2, FGFR3, STAT1
8MP:00053847.8CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
9MP:00053697.6CBL, COMP, FGF2, FGFR1, FGFR2, STAT1
10MP:00053877.5CBL, COMP, FGFR1, FGFR2, FGFR3, STAT1
11MP:00053717.3CBL, COMP, FGFR1, FGFR2, FGFR3, PTH1R
12MP:00107687.1CBL, FGF2, FGFR1, FGFR2, FGFR3, PTH1R
13MP:00053787.0CBL, COMP, FGFR1, FGFR2, FGFR3, PTH1R
14MP:00053906.8CBL, COMP, FGF2, FGFR1, FGFR2, FGFR3
15MP:00053866.7CBL, COMP, FGF2, FGFR1, FGFR2, FGFR3

Publications for Thanatophoric Dysplasia, Type I

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Articles related to Thanatophoric Dysplasia, Type I:

(show all 23)
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
The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. (17509076)
2007
11
Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester. (15906417)
2005
12
A case of thanatophoric dysplasia type I associated with mandibular clefting. (15083707)
2004
13
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. (11879084)
2002
14
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. (11754059)
2001
15
Thanatophoric dysplasia type I. (11270184)
2001
16
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. (11038465)
2000
17
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. (10910625)
1999
18
Thanatophoric dysplasia type I with syndactyly. (9843049)
1998
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: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder. (9481650)
1998
21
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. (10671061)
1998
22
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
23
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:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Thanatophoric Dysplasia, Type I:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
2FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
3FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
4FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
6FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
7FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
8FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
9FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
10FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
13FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
14FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
15FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
16FGFR3NM_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 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CBL, STAT1
2
Angiogenesis (WikiPathways)
Show member pathways
9.6CBL, STAT1
39.5CBL, FGF2
49.3CBL, FGFR2, FGFR3
5
Show member pathways
9.2FGF2, FGFR2, FGFR3
69.1FGF2, FGFR1
79.1FGF2, FGFR1
89.1FGF2, FGFR1
98.9FGFR1, FGFR2, FGFR3
108.9FGFR1, FGFR2, FGFR3
11
Show member pathways
8.9FGFR1, FGFR2, FGFR3
128.9FGFR1, FGFR2, FGFR3
138.7FGF2, FGFR1, STAT1
148.7CBL, FGF2, FGFR1
158.4CBL, FGFR1, FGFR2, STAT1
16
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
17
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
18
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
198.4FGF2, FGFR1, FGFR2, FGFR3
20
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
218.4FGF2, FGFR1, FGFR2, FGFR3
22
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
238.4FGF2, FGFR1, FGFR2, FGFR3
24
Angiogenesis (CST)
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
25
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
26
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
278.4FGF2, FGFR1, FGFR2, FGFR3
28
Show member pathways
8.4FGF2, FGFR1, FGFR2, FGFR3
29
Show member pathways
8.3CBL, FGF2, FGFR1, FGFR2
30
Show member pathways
8.0FGF2, FGFR1, FGFR2, FGFR3, STAT1
31
Show member pathways
8.0FGF2, FGFR1, FGFR2, FGFR3, STAT1
32
Show member pathways
8.0FGF2, FGFR1, FGFR2, FGFR3, STAT1
33
Show member pathways
8.0FGF2, FGFR1, FGFR2, FGFR3, STAT1
348.0CBL, FGF2, FGFR1, FGFR2, FGFR3
35
Show member pathways
8.0CBL, FGF2, FGFR1, FGFR2, FGFR3
36
Show member pathways
8.0CBL, FGF2, FGFR1, FGFR2, FGFR3
37
Show member pathways
8.0CBL, FGF2, FGFR1, FGFR2, FGFR3
387.9COMP, FGF2, FGFR1, FGFR2, FGFR3
397.8FGF2, FGFR1, FGFR3, PTH1R, STAT1
40
Show member pathways
7.5CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
417.5CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
42
Show member pathways
7.5CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
43
Show member pathways
7.5CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
44
Show member pathways
7.5CBL, FGF2, FGFR1, FGFR2, FGFR3, STAT1
45
Show member pathways
6.9CBL, FGF2, FGFR1, FGFR2, FGFR3, PTH1R

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, FGF2, FGFR1, FGFR2, FGFR3

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

(show top 50)    (show all 56)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascadeGO:000725910.4FGFR3, STAT1
2lens fiber cell developmentGO:007030710.4FGFR2, FGFR3
3negative regulation of mitotic nuclear divisionGO:004583910.4FGFR2, FGFR3
4response to axon injuryGO:004867810.3FGF2, FGFR3
5bone morphogenesisGO:006034910.2FGFR2, FGFR3
6positive regulation of cell divisionGO:005178110.2FGF2, FGFR2
7positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.2FGF2, FGFR3
8positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGFR1, FGFR3
9orbitofrontal cortex developmentGO:002176910.0FGFR1, FGFR2
10ventricular zone neuroblast divisionGO:002184710.0FGFR1, FGFR2
11fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
12midbrain developmentGO:003090110.0FGFR1, FGFR2
13lung-associated mesenchyme developmentGO:00604849.9FGFR1, FGFR2
14positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
15mesenchymal cell differentiationGO:00487629.9FGFR1, FGFR2
16branching involved in salivary gland morphogenesisGO:00604459.9FGFR1, FGFR2
17ureteric bud developmentGO:00016579.8FGFR1, FGFR2
18positive regulation of phospholipase C activityGO:00108639.8FGF2, FGFR1
19organ inductionGO:00017599.8FGF2, FGFR1
20positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGF2, FGFR2, FGFR3
21positive regulation of smooth muscle cell proliferationGO:00486619.7FGF2, FGFR2, STAT1
22cell maturationGO:00484699.6FGFR1, PTH1R
23positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGF2, FGFR2, FGFR3
24organ morphogenesisGO:00098879.6COMP, FGF2, FGFR2
25positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2, STAT1
26bone mineralizationGO:00302829.5FGFR2, FGFR3, PTH1R
27positive regulation of MAPK cascadeGO:00434109.5FGFR1, FGFR2, FGFR3
28positive regulation of phospholipase activityGO:00105189.5FGFR1, FGFR2, FGFR3
29positive regulation of cardiac muscle cell proliferationGO:00600459.4FGF2, FGFR1, FGFR2
30protein autophosphorylationGO:00467779.4FGFR1, FGFR2, FGFR3
31peptidyl-tyrosine phosphorylationGO:00181089.4FGFR1, FGFR2, FGFR3
32angiogenesisGO:00015259.3FGF2, FGFR1, FGFR2
33lung developmentGO:00303249.2FGF2, FGFR1, FGFR2
34negative regulation of cell proliferationGO:00082859.1FGF2, FGFR2, FGFR3, PTH1R
35phosphatidylinositol-mediated signalingGO:00480159.0FGF2, FGFR1, FGFR2, FGFR3
36chondrocyte differentiationGO:00020628.9FGFR1, FGFR3, PTH1R
37MAPK cascadeGO:00001658.8FGF2, FGFR1, FGFR2, FGFR3
38activation of MAPKK activityGO:00001868.8FGF2, FGFR1, FGFR2, FGFR3
39Ras protein signal transductionGO:00072658.8FGF2, FGFR1, FGFR2, FGFR3
40insulin receptor signaling pathwayGO:00082868.8FGF2, FGFR1, FGFR2, FGFR3
41Fc-epsilon receptor signaling pathwayGO:00380958.7FGF2, FGFR1, FGFR2, FGFR3
42neurotrophin TRK receptor signaling pathwayGO:00480118.7FGF2, FGFR1, FGFR2, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:00001228.5FGFR1, FGFR2, FGFR3, STAT1
44axon guidanceGO:00074118.4FGF2, FGFR1, FGFR2, FGFR3
45skeletal system developmentGO:00015018.4COMP, FGFR1, FGFR3, PTH1R
46vascular endothelial growth factor receptor signaling pathwayGO:00480108.3FGF2, FGFR1, FGFR2, FGFR3
47fibroblast growth factor receptor signaling pathwayGO:00085438.3CBL, FGF2, FGFR1, FGFR2, FGFR3
48positive regulation of cell proliferationGO:00082848.3FGF2, FGFR1, FGFR2, FGFR3, PTH1R
49small GTPase mediated signal transductionGO:00072648.1FGF2, FGFR1, FGFR2, FGFR3
50epidermal growth factor receptor signaling pathwayGO:00071738.1CBL, FGF2, FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.4FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.4FGFR1, FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047138.9FGFR1, FGFR2, FGFR3
4heparin bindingGO:00082018.1COMP, FGF2, FGFR1, FGFR2

Sources for Thanatophoric Dysplasia, Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet