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

About this section

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 Dwarfism 45 23 51 67
Thanatophoric Dysplasia Type I 45 22 67
Thanatophoric Dysplasia Type 1 45 51
Thanatophoric Dysplasia 1 67 24
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 Dwarfism 1 45
Dwarfism Thanatophoric 45
Tdi 22
Td 51

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

HPO:

61
thanatophoric dysplasia, type i:
Mortality/Aging: neonatal death
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 187600
Disease Ontology10 DOID:13481
ICD1027 Q77.1
MeSH36 D013796
NCIt42 C85187
SNOMED-CT59 29352008
Orphanet51 2655, 1860
ICD10 via Orphanet28 Q77.1
UMLS via Orphanet66 C0039743, C2931282
UMLS65 C0039743, C1868678

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 platyspondylic skeletal dysplasia, torrance type, and has symptoms including abnormality of the sacroiliac joint, cognitive impairment and short thorax. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Angiogenesis and Endocytosis. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are normal and digestive/alimentary.

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 NBK1366

Related Diseases for Thanatophoric Dysplasia, Type I

About this section

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 78)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type ii34.0FGFR1, FGFR2, FGFR3
2platyspondylic skeletal dysplasia, torrance type11.7
3endotheliitis10.7
4chikungunya10.3
5cardiac sarcoidosis10.3
6hepatitis10.3
7saddan10.3FGFR3, STAT1
8familial atrial fibrillation10.2COMP, FGFR3
9atherosclerosis10.2
10antisocial personality disorder10.2
11personality disorder10.2
12ventricular septal defect10.2
13eosinophilia10.2
14acute graft versus host disease10.2
15aneurysm of sinus of valsalva10.2
16aneurysm10.2
17hereditary persistence of alpha-fetoprotein10.2
18marfan syndrome10.2
19pheochromocytoma10.2
20myocardial infarction10.2
21leukemia10.2
22mantle cell lymphoma10.2
23nephrolithiasis10.2
24acute diarrhea10.2
25oral squamous cell carcinoma10.2
26lymphoma10.2
27pneumoconiosis10.2
28portal hypertension10.2
29primary hyperparathyroidism10.2
30disseminated intravascular coagulation10.2
31choledocholithiasis10.2
32gynecomastia10.2
33diarrhea10.2
34hyperparathyroidism10.2
35dental fluorosis10.2
36hepatitis c10.2
37melanoma10.2
38cystadenoma10.2
39astrocytoma10.2
40biliary dyskinesia10.2
41pilocytic astrocytoma10.2
42posterior myocardial infarction10.2
43juvenile pilocytic astrocytoma10.2
44mercury poisoning10.2
45multiple endocrine neoplasia10.2
46cyclotropia10.2FGFR2, FGFR3
47epidermolysis bullosa, pretibial10.2FGFR3, PTH1R
48tenosynovial giant cell tumor10.0FGFR2, FGFR3
49adult astrocytic tumour10.0FGFR1, FGFR3
50pfeiffer syndrome type 1, 2 and 310.0FGFR1, FGFR2

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

About this section

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 76)
id Description Frequency HPO Source Accession
1 abnormality of the sacroiliac joint hallmark (90%) HP:0100781
2 cognitive impairment hallmark (90%) HP:0100543
3 short thorax hallmark (90%) HP:0010306
4 bowing of the long bones hallmark (90%) HP:0006487
5 depressed nasal bridge hallmark (90%) HP:0005280
6 short stature hallmark (90%) HP:0004322
7 micromelia hallmark (90%) HP:0002983
8 abnormality of the femur hallmark (90%) HP:0002823
9 skeletal dysplasia hallmark (90%) HP:0002652
10 respiratory insufficiency hallmark (90%) HP:0002093
11 muscular hypotonia hallmark (90%) HP:0001252
12 split hand hallmark (90%) HP:0001171
13 brachydactyly syndrome hallmark (90%) HP:0001156
14 cutis laxa hallmark (90%) HP:0000973
15 platyspondyly hallmark (90%) HP:0000926
16 narrow chest hallmark (90%) HP:0000774
17 small face hallmark (90%) HP:0000274
18 malar flattening hallmark (90%) HP:0000272
19 macrocephaly hallmark (90%) HP:0000256
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 increased nuchal translucency typical (50%) HP:0010880
24 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
25 kyphosis typical (50%) HP:0002808
26 ventriculomegaly typical (50%) HP:0002119
27 frontal bossing typical (50%) HP:0002007
28 polyhydramnios typical (50%) HP:0001561
29 proptosis typical (50%) HP:0000520
30 hearing impairment typical (50%) HP:0000365
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 cloverleaf skull occasional (7.5%) HP:0002676
36 abnormality of neuronal migration occasional (7.5%) HP:0002269
37 patent ductus arteriosus occasional (7.5%) HP:0001643
38 atria septal defect occasional (7.5%) HP:0001631
39 limitation of joint mobility occasional (7.5%) HP:0001376
40 seizures occasional (7.5%) HP:0001250
41 acanthosis nigricans occasional (7.5%) HP:0000956
42 hydrocephalus occasional (7.5%) HP:0000238
43 abnormality of the kidney occasional (7.5%) HP:0000077
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 lethal short-limbed short stature HP:0008909
52 small abnormally formed scapulae HP:0006584
53 bowing of the long bones HP:0006487
54 severe platyspondyly HP:0004565
55 severe short stature HP:0003510
56 short sacroiliac notch HP:0003185
57 short long bone HP:0003026
58 metaphyseal irregularity HP:0003025
59 flared metaphysis HP:0003015
60 small foramen magnum HP:0002677
61 cloverleaf skull HP:0002676
62 heterotopia HP:0002282
63 intellectual disability, profound HP:0002187
64 respiratory insufficiency HP:0002093
65 frontal bossing HP:0002007
66 polyhydramnios HP:0001561
67 decreased fetal movement HP:0001558
68 global developmental delay HP:0001263
69 muscular hypotonia HP:0001252
70 hypoplastic ilia HP:0000946
71 wide-cupped costochondral junctions HP:0000910
72 narrow chest HP:0000774
73 short ribs HP:0000773
74 small face HP:0000274
75 macrocephaly HP:0000256
76 hydrocephalus HP:0000238

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

About this section

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46085
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
3IncretinsPhase 21326
4HormonesPhase 211748
5Hypoglycemic AgentsPhase 24503
6Hormone AntagonistsPhase 210002
7glucagonPhase 2379
8Gastrointestinal AgentsPhase 26401
9Glucagon-Like Peptide 1Phase 2620
10
NicotineapprovedPhase 197354-11-5942, 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
11Nicotinic AgonistsPhase 1701
12Peripheral Nervous System AgentsPhase 118510
13Central Nervous System StimulantsPhase 11721
14Cholinergic AgentsPhase 13243
15Neurotransmitter AgentsPhase 114795

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

About this section

Genetic tests related to Thanatophoric Dysplasia, Type I:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia22 FGFR3
2 Thanatophoric Dysplasia Type I22 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type I

About this section

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

33
Skin, Bone, Lung, Eye, Kidney, Heart

Animal Models for Thanatophoric Dysplasia, Type I or affiliated genes

About this section

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6COMP, FGFR1, FGFR2, FGFR3, STAT1
2MP:00053818.4FGFR1, FGFR2, FGFR3, PTH1R, STAT1
3MP:00020068.3FGF2, FGFR2, FGFR3, FGFR4, STAT1
4MP:00053918.1FGF2, FGFR1, FGFR2, FGFR3, STAT1
5MP:00053718.1COMP, FGFR1, FGFR2, FGFR3, PTH1R, STAT1
6MP:00053898.0FGF2, FGFR1, FGFR2, FGFR3, FGFR4
7MP:00053697.9COMP, FGF2, FGFR1, FGFR2, STAT1
8MP:00053777.9FGF2, FGFR1, FGFR2, FGFR3
9MP:00053847.5FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
10MP:00053867.2COMP, FGF2, FGFR1, FGFR2, FGFR3, PTH1R
11MP:00053787.1COMP, FGFR1, FGFR2, FGFR3, FGFR4, PTH1R
12MP:00053767.0FGF2, FGFR1, FGFR2, FGFR3, FGFR4, PTH1R
13MP:00107686.8FGF2, FGFR1, FGFR2, FGFR3, FGFR4, PTH1R
14MP:00053906.4COMP, FGF2, FGFR1, FGFR2, FGFR3, FGFR4

Publications for Thanatophoric Dysplasia, Type I

About this section

Articles related to Thanatophoric Dysplasia, Type I:

(show all 24)
idTitleAuthorsYear
1
Hypercortisolaemia due to ectopic adrenocorticotropic hormone secretion by a nasal paraganglioma: a case report and review of the literature. (23958171)
2013
2
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. (23427518)
2012
3
Co-expression of mesothelin and CA125 correlates with unfavorable patient outcome in pancreatic ductal adenocarcinoma. (21775916)
2011
4
Pyogenic granuloma in ten children treated with topical imiquimod. (19706086)
2009
5
Plasmablastic lymphoma mimicking orbital cellulitis. (18597126)
2008
6
Double orifice mitral valve by real-time three-dimensional echocardiography. (18490284)
2008
7
The influence of interleukin-6 and tumor necrosis factor alpha gene polymorphisms on bone mineral density in postmenopausal women]. (18652131)
2008
8
In vivo survivors of transformed mouse ovarian surface epithelial cells display diverse phenotypes for gene expression and tumorigenicity. (19052485)
2008
9
Human PEPT1 pharmacophore distinguishes between dipeptide transport and binding. (16759105)
2006
10
The role of high-density lipoprotein cholesterol in the prevention and possible treatment of cardiovascular diseases. (16918377)
2006
11
Differential expression of apolipoprotein d in human astroglial and oligodendroglial cells. (15258178)
2004
12
The differential sensitivity of human and rhesus macaque CCR5 to small-molecule inhibitors of human immunodeficiency virus type 1 entry is explained by a single amino acid difference and suggests a mechanism of action for these inhibitors. (15047829)
2004
13
A methylester of the glucuronide prodrug DOX-GA3 for improvement of tumor-selective chemotherapy. (15498517)
2004
14
Expression of survivin gene and its relation with the expression of bcl-2 and bax protein in epithelial ovarian cancer]. (12885364)
2003
15
The role of EGF-R expression on patient survival in lung cancer: a systematic review with meta-analysis. (12412692)
2002
16
Glutamate-dependent transcriptional regulation of the chkbp gene: signaling mechanisms. (12237870)
2002
17
Rabbit syndrome secondary to risperidone. (11939686)
2002
18
Functional cloning, sorting, and expression profiling of nucleic acid-binding proteins. (12176925)
2002
19
Felodipine or hydrochlorothiazide/triamterene for treatment of hypertension in the elderly: effects on blood pressure, hypertensive heart disease, metabolic and hormonal parameters. (8790926)
1996
20
X-ray structure of human beta3beta3 alcohol dehydrogenase. The contribution of ionic interactions to coenzyme binding. (8663387)
1996
21
The twitcher mouse: a model for Krabbe disease and for experimental therapies. (8520724)
1995
22
Pseudotumor cerebri: risk factors, clinical course, prognostic criteria. (1520600)
1992
23
Treatment of nephrogenic diabetes insipidus. (3773945)
1986
24
Vulvar lymphatic malformation. (7291350)
1981

Variations for Thanatophoric Dysplasia, Type I

About this section

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 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

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

Pathways for genes affiliated with Thanatophoric Dysplasia, Type I

About this section

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

(show top 50)    (show all 51)
idSuper pathwaysScoreTop Affiliating Genes
19.1FGF2, FGFR2
29.1FGFR2, FGFR3, FGFR4
39.0FGF2, FGFR1
49.0FGF2, FGFR1
59.0FGF2, FGFR1
69.0FGFR1, FGFR2, FGFR3
78.7FGF2, FGFR1, STAT1
8
Show member pathways
8.7FGF2, FGFR1, STAT1
9
Show member pathways
8.5FGFR1, FGFR2, FGFR3, FGFR4
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3, FGFR4
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3, FGFR4
12
Show member pathways
8.5FGFR1, FGFR2, FGFR3, FGFR4
138.5FGFR1, FGFR2, FGFR3, FGFR4
14
Show member pathways
8.5FGFR1, FGFR2, FGFR3, FGFR4
158.4FGFR1, FGFR2, FGFR4, STAT1
168.2FGF2, FGFR1, FGFR2, FGFR3
178.2FGF2, FGFR1, FGFR3, FGFR4
187.9FGF2, FGFR1, FGFR3, PTH1R, STAT1
197.8FGF2, FGFR1, FGFR2, FGFR3, STAT1
20
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
21
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
22
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
23
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
24
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
25
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
267.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
27
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
28
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
29
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
307.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
31
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
32
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
337.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
34
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
35
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
36
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
37
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
38
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
39
Show member pathways
7.6FGF2, FGFR1, FGFR2, FGFR3, FGFR4
40
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
41
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
42
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
43
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
44
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
45
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
46
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
47
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
48
Show member pathways
7.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4, STAT1
497.2COMP, FGF2, FGFR1, FGFR2, FGFR3, FGFR4
50
Show member pathways
6.8FGF2, FGFR1, FGFR2, FGFR3, FGFR4, PTH1R

GO Terms for genes affiliated with Thanatophoric Dysplasia, Type I

About this section

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPK cascadeGO:004341010.1FGFR2, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
3chondrocyte differentiationGO:000206210.0FGFR1, PTH1R
4lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
5bone morphogenesisGO:006034910.0FGFR2, FGFR3
6bone mineralizationGO:00302829.9FGFR2, FGFR3
7positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
8cell maturationGO:00484699.9FGFR1, PTH1R
9positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.8FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
12positive regulation of endothelial cell chemotaxis to fibroblast growth factorGO:20005469.8FGF2, FGFR1
13positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7FGF2, FGFR3
14organ inductionGO:00017599.7FGF2, FGFR1
15positive regulation of cell divisionGO:00517819.7FGF2, FGFR2
16phosphatidylinositol phosphorylationGO:00468549.7FGF2, FGFR4
17positive regulation of phospholipase activityGO:00105189.6FGFR1, FGFR2, FGFR3
18positive regulation of phospholipase C activityGO:00108639.6FGF2, FGFR1
19positive regulation of MAP kinase activityGO:00434069.6FGF2, FGFR1
20lung developmentGO:00303249.3FGFR1, FGFR2
21orbitofrontal cortex developmentGO:00217699.3FGFR1, FGFR2
22positive regulation of ERK1 and ERK2 cascadeGO:00703749.2FGF2, FGFR2, FGFR3
23positive regulation of smooth muscle cell proliferationGO:00486619.2FGF2, FGFR2, STAT1
24positive regulation of cardiac muscle cell proliferationGO:00600459.0FGF2, FGFR1, FGFR2
25regulation of phosphatidylinositol 3-kinase signalingGO:00140669.0FGFR1, FGFR2, FGFR3, FGFR4
26protein autophosphorylationGO:00467778.9FGFR1, FGFR2, FGFR3, FGFR4
27neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR1, FGFR2, FGFR3
28Ras protein signal transductionGO:00072658.8FGFR1, FGFR2, FGFR3, FGFR4
29epidermal growth factor receptor signaling pathwayGO:00071738.7FGF2, FGFR1, FGFR2, FGFR3
30axon guidanceGO:00074118.5FGFR1, FGFR2, FGFR3, FGFR4
31MAPK cascadeGO:00001658.5FGF2, FGFR1, FGFR2, FGFR3
32activation of MAPKK activityGO:00001868.3FGF2, FGFR1, FGFR2, FGFR4
33phosphatidylinositol-mediated signalingGO:00480158.2FGF2, FGFR1, FGFR2, FGFR3, FGFR4
34phosphatidylinositol-3-phosphate biosynthetic processGO:00360928.2FGF2, FGFR1, FGFR2, FGFR3, FGFR4
35fibroblast growth factor receptor signaling pathwayGO:00085438.1FGF2, FGFR1, FGFR2, FGFR3, FGFR4
36vascular endothelial growth factor receptor signaling pathwayGO:00480108.0FGF2, FGFR1, FGFR2, FGFR3, FGFR4
37insulin receptor signaling pathwayGO:00082867.9FGF2, FGFR1, FGFR2, FGFR3, FGFR4
38positive regulation of cell proliferationGO:00082847.9FGF2, FGFR1, FGFR3, FGFR4, PTH1R
39innate immune responseGO:00450877.3FGF2, FGFR1, FGFR2, FGFR3, FGFR4

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.9FGFR3, FGFR4
2fibroblast growth factor-activated receptor activityGO:00050079.6FGFR2, FGFR3, FGFR4
3protein tyrosine kinase activityGO:00047138.5FGFR1, FGFR2, FGFR3, FGFR4

Sources for Thanatophoric Dysplasia, Type I

About this section
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