MCID: THN009
MIFTS: 66

Thanatophoric Dysplasia, Type I

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

Aliases & Classifications for Thanatophoric Dysplasia, Type I

MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 53 13 69
Thanatophoric Dysplasia 53 12 72 23 49 24 55 36 51 41 14
Thanatophoric Dwarfism 53 49 24 55 71
Thanatophoric Dysplasia Type 1 49 55 28
Td1 53 55 71
Thanatophoric Dysplasia Type I 49 71
Td 53 55
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type 53
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 71
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type 53
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 71
Thanatophoric Dwarfism Type 1 55
Thanatophoric Dysplasia; Td 53
Thanatophoric Short Stature 24
Thanatophoric Dysplasia 1 71
Thanatophoric Dwarfism 1 49
Dwarfism Thanatophoric 49
Dwarf, Thanatophoric 24

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
death in majority of infants soon after birth


HPO:

31
thanatophoric dysplasia, type i:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance of fgfr3 pathogenic variants is 100%...

Classifications:



Summaries for Thanatophoric Dysplasia, Type I

NIH Rare Diseases : 49 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 seizures, joint stiffness and macrocephaly. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Vaccines and Ustekinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are behavior/neurological and cellular

OMIM : 53 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). (187600)

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

GeneReviews: NBK1366

Related Diseases for Thanatophoric Dysplasia, Type I

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 29)
# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 32.0 FGFR3 STAT1
2 hypochondroplasia 30.2 FGFR2 FGFR3
3 chromosome 2q35 duplication syndrome 29.8 FGFR2 FGFR3
4 skeletal dysplasias 29.5 COMP FGFR3 PTH1R
5 achondroplasia 29.1 COMP FGFR2 FGFR3 PTH1R
6 plagiocephaly 10.3 FGFR2 FGFR3
7 osteoglophonic dysplasia 10.3 FGFR2 FGFR3
8 luteoma 10.3 FGFR2 FGFR3
9 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
10 jackson-weiss syndrome 10.2 FGFR2 FGFR3
11 hypertropia 10.2 FGFR2 FGFR3
12 apert syndrome 10.1 FGFR2 FGFR3
13 atelosteogenesis 10.1 COMP FGFR3
14 acanthosis nigricans 10.1 FGFR2 FGFR3
15 saethre-chotzen syndrome 10.0 CBL FGFR2 FGFR3
16 metaphyseal chondrodysplasia, jansen type 10.0 FGFR3 PTH1R
17 chondromyxoid fibroma 10.0 FGFR3 PTH1R
18 deafness, autosomal recessive 51 10.0 FGF8 FGFR3
19 spondyloepiphyseal dysplasia congenita 9.9 COMP FGFR3
20 crouzon syndrome 9.9 FGF13 FGFR2 FGFR3
21 renal dysplasia 9.9
22 bone development disease 9.9 COMP FGFR2 FGFR3
23 blood group, i system 9.9
24 dwarfism 9.9
25 lacrimoauriculodentodigital syndrome 9.7 FGF8 FGFR2 FGFR3
26 pfeiffer syndrome 9.7 FGF8 FGFR2 FGFR3
27 craniosynostosis 9.7 FGF8 FGFR2 FGFR3
28 brittle bone disorder 9.6 FGFR3 PTH1R
29 muenke syndrome 9.3 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
frontal bossing

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
small face

Prenatal Manifestations Movement:
decreased fetal activity

Growth Other:
severe growth deficiency in survivors

Skeletal Skull:
small foramen magnum
cloverleaf skull rarely

Skeletal Pelvis:
short and small iliac bones
small sacroiliac notches

Prenatal Manifestations:
prenatal diagnosis by ultrasound

Neurologic Central Nervous System:
hydrocephalus
temporal lobe heterotopias
profound mental retardation and hypotonia in survivors

Chest RibsSternum Clavicles And Scapulae:
small abnormally formed scapulae
short ribs
wide-cupped costochondral junctions

Chest External Features:
narrow thorax

Growth Height:
dwarfism, lethal micromelic

Respiratory Lung:
respiratory insufficiency/failure

Skeletal Spine:
severe platyspondyly

Skeletal Limbs:
marked shortness and bowing of long bones
'french telephone receiver femurs'
flared and irregular metaphyses


Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
2 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001387
3 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000256
4 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
5 frontal bossing 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002007
6 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
7 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
8 respiratory insufficiency 55 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002093
9 kyphosis 55 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002808
10 hearing impairment 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
11 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
12 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005280
14 bowing of the long bones 55 31 Very frequent (99-80%) HP:0006487
15 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000956
16 cloverleaf skull 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002676
17 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000944
18 narrow chest 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000774
19 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000926
20 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
21 micromelia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002983
22 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
23 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
24 flat face 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012368
25 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
26 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001631
27 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002119
28 abnormality of the kidney 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000077
29 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
30 brachydactyly 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001156
31 polyhydramnios 55 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001561
32 intellectual disability, profound 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002187
33 split hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0001171
34 redundant skin 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001582
35 increased nuchal translucency 55 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0010880
36 disproportionate short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008873
37 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
38 wide anterior fontanel 55 31 frequent (33%) Frequent (79-30%) HP:0000260
39 proptosis 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000520
40 aplasia/hypoplasia of the lungs 55 31 frequent (33%) Frequent (79-30%) HP:0006703
41 pulmonary hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002089
42 heterotopia 55 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002282
43 abnormality of the sacroiliac joint 55 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0100781
44 femoral bowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002980
45 excessive wrinkled skin 55 31 frequent (33%) Frequent (79-30%) HP:0007392
46 hypoplastic ilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000946
47 short femur 55 31 hallmark (90%) Very frequent (99-80%) HP:0003097
48 short sacroiliac notch 55 31 hallmark (90%) Very frequent (99-80%) HP:0003185
49 lethal short-limbed short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008909
50 global developmental delay 31 HP:0001263

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 COMP FGFR2 PTH1R FGF13 FGF8 CBL
2 cellular MP:0005384 10.11 COMP FGFR2 FGF13 FGF8 CBL FGFR3
3 growth/size/body region MP:0005378 10.08 COMP FGFR2 PTH1R FGF8 CBL FGFR3
4 cardiovascular system MP:0005385 10.05 STAT1 COMP FGFR2 PTH1R CBL FGF8
5 homeostasis/metabolism MP:0005376 10.04 STAT1 COMP FGFR2 PTH1R CBL FGF8
6 immune system MP:0005387 10.02 COMP FGFR2 PTH1R FGF8 CBL FGFR3
7 limbs/digits/tail MP:0005371 10 COMP FGFR2 PTH1R FGF8 CBL FGFR3
8 hematopoietic system MP:0005397 9.99 CBL FGF8 FGFR3 STAT1 FGFR2 PTH1R
9 mortality/aging MP:0010768 9.98 CBL FGF8 FGFR3 STAT1 FGFR2 FGF13
10 craniofacial MP:0005382 9.96 FGFR2 PTH1R FGF8 CBL FGFR3
11 digestive/alimentary MP:0005381 9.95 FGFR2 PTH1R FGF8 FGFR3 STAT1
12 hearing/vestibular/ear MP:0005377 9.83 FGF8 FGFR3 FGFR2 CBL
13 muscle MP:0005369 9.8 STAT1 COMP FGFR2 CBL FGF8
14 nervous system MP:0003631 9.8 FGF8 FGFR3 FGF13 FGFR2 PTH1R STAT1
15 neoplasm MP:0002006 9.67 FGFR3 STAT1 FGFR2 PTH1R
16 normal MP:0002873 9.65 FGF8 FGFR3 STAT1 COMP FGFR2
17 respiratory system MP:0005388 9.55 FGFR2 PTH1R FGF8 CBL FGFR3
18 skeleton MP:0005390 9.5 COMP FGFR2 PTH1R FGF8 CBL FGFR3
19 vision/eye MP:0005391 9.02 STAT1 FGFR2 PTH1R FGF8 FGFR3

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Ustekinumab Approved, Investigational Phase 2 815610-63-0
3 Gastrointestinal Agents Phase 2
4 glucagon Phase 2
5 Glucagon-Like Peptide 1 Phase 2
6 Hormone Antagonists Phase 2
7 Hormones Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
9 Hypoglycemic Agents Phase 2
10 Incretins Phase 2
11 Dermatologic Agents Phase 2
12
Nicotine Approved Phase 1 54-11-5 89594 942
13 Autonomic Agents Phase 1
14 Central Nervous System Stimulants Phase 1
15 Cholinergic Agents Phase 1
16 Neurotransmitter Agents Phase 1
17 Nicotinic Agonists Phase 1
18 Peripheral Nervous System Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine Booster Unknown status NCT00870350 Phase 4
2 Single Doses of ZP4207 Adm. sc to Hypoglycemic TD1 pt. to Describe the PK and PD of ZP4207 as Comp. to Marketed Glucagon Completed NCT02660008 Phase 2 ZP4207;GlucaGen
3 Study of Tolerability and Safety of Adding Ustekinumab to INGAP Peptide for 12 Weeks in Adult Patients With TD1 Melitis Completed NCT02204397 Phase 2 INGAP Peptide, Ustekinumab
4 Nicotine Patch - Bioequivalence Study Completed NCT02089308 Phase 1 Test treatment : V0116 transdermal patch;Reference treatment : Nicotine transdermal patch
5 Nicotine Patch - Multidose Bioequivalence Study Completed NCT01658215 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference treatment )
6 Nicotine Patch Bioequivalence Study Completed NCT01658202 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference Treatment )

Search NIH Clinical Center for Thanatophoric Dysplasia, Type I

Cochrane evidence based reviews: thanatophoric dysplasia

Genetic Tests for Thanatophoric Dysplasia, Type I

Genetic tests related to Thanatophoric Dysplasia, Type I:

# Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type 1 28 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type I

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

38
Skin, Bone, Lung, Eye, Testes, Kidney, Temporal Lobe

Publications for Thanatophoric Dysplasia, Type I

Articles related to Thanatophoric Dysplasia, Type I:

(show top 50) (show all 169)
# Title Authors Year
1
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
2
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. ( 28249712 )
2017
3
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. ( 27028100 )
2016
4
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. ( 25606676 )
2015
5
A case of thanatophoric dysplasia type 2: a novel mutation. ( 25800480 )
2015
6
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. ( 25728633 )
2015
7
Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. ( 25671245 )
2015
8
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. ( 24859745 )
2014
9
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). ( 24517215 )
2014
10
Thanatophoric dysplasia type I: a rare case report at fetal autopsy. ( 25328339 )
2014
11
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
12
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. ( 24585534 )
2014
13
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. ( 25119967 )
2014
14
Lethal short limb dwarfism: thanatophoric dysplasia- type I. ( 25584280 )
2014
15
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. ( 24678489 )
2014
16
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. ( 23551494 )
2013
17
Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology. ( 22744731 )
2013
18
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. ( 23408600 )
2013
19
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. ( 23573386 )
2013
20
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation. ( 24038754 )
2013
21
Thanatophoric dysplasia: autopsy findings over a 25-year period. ( 23323754 )
2013
22
Growth and development in thanatophoric dysplasia - an update 25A years later. ( 25356217 )
2013
23
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. ( 24075385 )
2013
24
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. ( 22734441 )
2012
25
Thanatophoric dysplasia, type I. ( 22643294 )
2012
26
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. ( 23014564 )
2012
27
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD. ( 23569503 )
2012
28
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. ( 22414243 )
2012
29
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
30
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
31
Disruption of a Sox9-I^-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. ( 22843502 )
2012
32
High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: case report. ( 22508320 )
2012
33
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
34
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis. ( 20569165 )
2011
35
Thanatophoric dysplasia: a rare entity. ( 22043415 )
2011
36
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis. ( 21671381 )
2011
37
Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression. ( 21155935 )
2011
38
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
39
Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges. ( 20701518 )
2010
40
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. ( 20034074 )
2010
41
Seborrhoeic keratoses and acanthosis nigricans in a long-term survivor of thanatophoric dysplasia. ( 20518778 )
2010
42
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. ( 20357663 )
2010
43
Stippling: a first trimester marker for thanatophoric dysplasia type I. ( 20954151 )
2010
44
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. ( 22375084 )
2010
45
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. ( 21253318 )
2010
46
First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia. ( 20949643 )
2010
47
Thanatophoric dysplasia: role of 3D sonography. ( 20489076 )
2010
48
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. ( 20704477 )
2010
49
Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. ( 20499057 )
2010
50
A case report on the antenatal three dimensional sonographic features of thanatophoric dysplasia. ( 19530593 )
2009

Variations for Thanatophoric Dysplasia, Type I

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

71
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Ser249Cys VAR_004149 rs121913483
3 FGFR3 p.Gly370Cys VAR_004151 rs121913479
4 FGFR3 p.Ser371Cys VAR_004152 rs121913484
5 FGFR3 p.Tyr373Cys VAR_004153 rs121913485
6 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Thanatophoric Dysplasia, Type I:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
2 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913484 GRCh37 Chromosome 4, 1806092: 1806092
3 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
4 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
5 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
6 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
7 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
8 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
9 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913485 GRCh37 Chromosome 4, 1806099: 1806099
10 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
11 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
12 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
13 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
14 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989

Expression for Thanatophoric Dysplasia, Type I

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

Pathways for Thanatophoric Dysplasia, Type I

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
2
Show member pathways
13.54 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
3
Show member pathways
13.24 CBL FGF13 FGF8 FGFR2 FGFR3 STAT1
4
Show member pathways
13.14 FGF13 FGF8 FGFR2 FGFR3 STAT1
5
Show member pathways
13.09 CBL FGF8 FGFR2 FGFR3 STAT1
6
Show member pathways
13 CBL FGF13 FGF8 FGFR2 FGFR3
7
Show member pathways
12.81 FGF13 FGF8 FGFR2 FGFR3
8
Show member pathways
12.8 CBL FGF8 FGFR2 FGFR3
9
Show member pathways
12.73 FGF13 FGF8 FGFR2 FGFR3 STAT1
10
Show member pathways
12.63 COMP FGF8 FGFR2 FGFR3 STAT1
11
Show member pathways
12.49 CBL FGF8 FGFR2 FGFR3
12
Show member pathways
12.46 FGF13 FGF8 FGFR2 FGFR3
13 12.35 FGF13 FGF8 FGFR2 FGFR3
14
Show member pathways
12.29 CBL FGF8 FGFR2 FGFR3
15 12.28 CBL FGF8 FGFR2 FGFR3 STAT1
16
Show member pathways
12.19 FGF8 FGFR2 FGFR3
17 12.17 CBL FGFR2 FGFR3
18
Show member pathways
12.05 FGF13 FGF8 FGFR2 FGFR3
19 11.91 CBL FGFR2 FGFR3
20
Show member pathways
11.85 CBL FGF8 FGFR2 FGFR3
21 11.69 FGF8 FGFR2 FGFR3
22
Show member pathways
11.64 CBL STAT1
23
Show member pathways
11.46 FGF8 FGFR2 FGFR3 STAT1
24
Show member pathways
11.43 CBL FGF13 FGF8 FGFR2 FGFR3
25
Show member pathways
11.42 CBL STAT1
26
Show member pathways
11.42 FGF8 FGFR3
27 11.42 FGFR3 PTH1R STAT1
28 11.39 CBL STAT1
29 11.38 CBL STAT1
30 11.29 FGFR2 FGFR3
31 11.26 FGFR2 FGFR3
32 11.17 CBL FGFR2 STAT1
33 10.78 FGF13 FGF8 FGFR2 FGFR3

GO Terms for Thanatophoric Dysplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 CBL FGF13 STAT1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.78 FGF13 FGFR2 FGFR3
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.72 FGF8 FGFR2 FGFR3
3 apoptotic process GO:0006915 9.72 COMP FGF8 FGFR2 FGFR3 STAT1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGF8 FGFR2 FGFR3
5 positive regulation of protein kinase B signaling GO:0051897 9.7 FGF8 FGFR2 FGFR3
6 skeletal system development GO:0001501 9.69 COMP FGFR3 PTH1R
7 MAPK cascade GO:0000165 9.67 FGF13 FGF8 FGFR2 FGFR3
8 phosphatidylinositol phosphorylation GO:0046854 9.65 FGF8 FGFR2 FGFR3
9 inner ear morphogenesis GO:0042472 9.63 FGF8 FGFR2
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.62 FGFR2 STAT1
11 cell fate commitment GO:0045165 9.62 FGF8 FGFR2
12 bone development GO:0060348 9.61 FGF8 FGFR2
13 positive regulation of cell division GO:0051781 9.6 FGF8 FGFR2
14 chondrocyte differentiation GO:0002062 9.59 FGFR3 PTH1R
15 odontogenesis GO:0042476 9.58 FGF8 FGFR2
16 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.57 FGFR2 STAT1
18 outflow tract septum morphogenesis GO:0003148 9.56 FGF8 FGFR2
19 positive regulation of cell proliferation GO:0008284 9.55 FGF8 FGFR2 FGFR3 PTH1R STAT1
20 branching involved in salivary gland morphogenesis GO:0060445 9.49 FGF8 FGFR2
21 positive regulation of phospholipase activity GO:0010518 9.46 FGFR2 FGFR3
22 endochondral bone growth GO:0003416 9.43 FGFR2 FGFR3
23 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF8 FGFR2 FGFR3
24 otic vesicle formation GO:0030916 9.4 FGF8 FGFR2
25 bone mineralization GO:0030282 9.13 FGFR2 FGFR3 PTH1R
26 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 CBL FGF8 FGFR2 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.5 FGF8 FGFR2 FGFR3
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 FGF8 FGFR2 FGFR3
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.4 FGFR2 FGFR3
4 fibroblast growth factor binding GO:0017134 9.37 FGFR2 FGFR3
5 fibroblast growth factor-activated receptor activity GO:0005007 9.16 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF8 FGFR2 FGFR3
7 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF8 FGFR2 FGFR3

Sources for Thanatophoric Dysplasia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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