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TD1
MCID: THN009
MIFTS: 64

Thanatophoric Dysplasia, Type I (TD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thanatophoric Dysplasia, Type I

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MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 58 13 74
Thanatophoric Dysplasia 58 12 77 25 54 26 60 38 56 45 15
Thanatophoric Dwarfism 58 54 26 60 76
Thanatophoric Dysplasia Type 1 54 60 30 6
Td1 58 54 60 76
Thanatophoric Dysplasia Type I 54 76
Thanatophoric Dwarfism Type 1 54 60
Td 58 60
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type 58
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 76
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type 58
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 76
Dysplasia, Thanatophoric, Type I 41
Thanatophoric Dysplasia; Td 58
Thanatophoric Short Stature 26
Thanatophoric Dysplasia 1 76
Thanatophoric Dwarfism 1 54
Dwarfism Thanatophoric 54
Dwarf, Thanatophoric 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
death in majority of infants soon after birth


HPO:

33
thanatophoric dysplasia, type i:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Respiratory diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Thanatophoric Dysplasia, Type I

About this section
NIH Rare Diseases : 54 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 beĀ 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.

MalaCards based summary : Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to thanatophoric dysplasia, type ii and hypochondroplasia. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are TGF-Beta Pathway and Cytokine Signaling in Immune system. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are macrocephaly and muscular hypotonia

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

GeneReviews:
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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 63)
# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 30.4 FGFR3 STAT1
2 hypochondroplasia 30.4 FGFR2 FGFR3
3 acanthosis nigricans 30.3 FGFR2 FGFR3
4 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.3 FGFR3 STAT1
5 chromosome 2q35 duplication syndrome 30.2 FGFR2 FGFR3
6 skeletal dysplasias 30.0 COMP FGFR3 PTH1R
7 brittle bone disorder 29.9 FGFR3 PTH1R
8 achondroplasia 29.5 COMP FGFR2 FGFR3 PTH1R
9 thanatophoric dysplasia, glasgow variant 12.2
10 kleeblattschaedel 11.6
11 platyspondylic lethal skeletal dysplasia, torrance type 11.4
12 atelosteogenesis, type i 11.2
13 boomerang dysplasia 11.2
14 achondrogenesis 10.3
15 hemifacial hyperplasia 10.3 FGFR2 FGFR3
16 col1a1/2-related osteogenesis imperfecta 10.2
17 encephalocele 10.2
18 plagiocephaly 10.2 FGFR2 FGFR3
19 osteoglophonic dysplasia 10.2 FGFR2 FGFR3
20 luteoma 10.2 FGFR2 FGFR3
21 keratosis, seborrheic 10.2
22 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
23 jackson-weiss syndrome 10.2 FGFR2 FGFR3
24 radioulnar synostosis 10.2 FGFR2 FGFR3
25 hypertropia 10.2 FGFR2 FGFR3
26 osteogenesis imperfecta, type ii 10.2
27 skeletal dysplasia, san diego type 10.2
28 megalencephaly 10.2
29 exophthalmos 10.2 FGFR2 FGFR3
30 hypophosphatasia 10.1
31 apert syndrome 10.1 FGFR2 FGFR3
32 acromesomelic dysplasia, maroteaux type 10.1 FGFR3 NPR2
33 bladder cancer 10.1
34 nevus, epidermal 10.1
35 ascites, chylous 10.1
36 myeloma, multiple 10.1
37 testicular germ cell tumor 10.1
38 cervix carcinoma 10.1
39 dwarfism 10.1
40 saethre-chotzen syndrome 10.0 CBL FGFR2 FGFR3
41 down syndrome 10.0
42 hydrocephalus, congenital, 1 10.0
43 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
44 corpus callosum, partial agenesis of, x-linked 10.0
45 holoprosencephaly 10.0
46 hydrocephalus 10.0
47 spinal cord injury 10.0
48 chorioangioma 10.0
49 chromosomal triplication 10.0
50 congenital hydrocephalus 10.0

Graphical network of the top 20 diseases related to Thanatophoric Dysplasia, Type I:



Diseases related to Thanatophoric Dysplasia, Type I
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Symptoms & Phenotypes for Thanatophoric Dysplasia, Type I

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Human phenotypes related to Thanatophoric Dysplasia, Type I:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000256
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
3 respiratory insufficiency 60 33 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002093
4 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005280
6 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000944
7 narrow chest 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000774
8 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000926
9 micromelia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002983
10 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
11 flat face 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012368
12 brachydactyly 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001156
13 intellectual disability, profound 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002187
14 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
15 redundant skin 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001582
16 increased nuchal translucency 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0010880
17 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
18 pulmonary hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002089
19 femoral bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002980
20 hypoplastic ilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000946
21 short femur 60 33 hallmark (90%) Very frequent (99-80%) HP:0003097
22 short sacroiliac notch 60 33 hallmark (90%) Very frequent (99-80%) HP:0003185
23 lethal short-limbed short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008909
24 frontal bossing 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002007
25 kyphosis 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002808
26 hearing impairment 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
27 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
28 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002119
29 polyhydramnios 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001561
30 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
31 wide anterior fontanel 60 33 frequent (33%) Frequent (79-30%) HP:0000260
32 proptosis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000520
33 aplasia/hypoplasia of the lungs 60 33 frequent (33%) Frequent (79-30%) HP:0006703
34 excessive wrinkled skin 60 33 frequent (33%) Frequent (79-30%) HP:0007392
35 gray matter heterotopia 33 occasional (7.5%) HP:0002282
36 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
37 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
38 seizures 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
39 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
40 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001387
41 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000956
42 cloverleaf skull 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002676
43 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
44 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
45 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001631
46 abnormality of the kidney 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000077
47 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
48 abnormality of the sacroiliac joint 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0100781
49 bowing of the long bones 60 33 Very frequent (99-80%) HP:0006487
50 global developmental delay 33 HP:0001263

Symptoms via clinical synopsis from OMIM:

58
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 Ribs Sternum 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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 FGFR2
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR2 FGFR3 NPR2

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 CBL COMP FGF8 FGFR2 FGFR3 NPR2
2 growth/size/body region MP:0005378 10.14 CBL COMP FGF8 FGFR2 FGFR3 NPR2
3 cardiovascular system MP:0005385 10.13 CBL COMP FGF8 FGFR2 NPR2 PTH1R
4 homeostasis/metabolism MP:0005376 10.1 CBL COMP FGF8 FGFR2 FGFR3 NPR2
5 immune system MP:0005387 10.08 CBL COMP FGF8 FGFR2 FGFR3 NPR2
6 limbs/digits/tail MP:0005371 10.06 CBL COMP FGF8 FGFR2 FGFR3 NPR2
7 cellular MP:0005384 10.05 CBL COMP FGF8 FGFR2 FGFR3 STAT1
8 hematopoietic system MP:0005397 10.05 CBL FGF8 FGFR2 FGFR3 NPR2 PTH1R
9 craniofacial MP:0005382 10.04 CBL FGF8 FGFR2 FGFR3 NPR2 PTH1R
10 digestive/alimentary MP:0005381 10.03 FGF8 FGFR2 FGFR3 NPR2 PTH1R STAT1
11 endocrine/exocrine gland MP:0005379 10.02 CBL FGF8 FGFR2 NPR2 PTH1R STAT1
12 mortality/aging MP:0010768 9.98 CBL FGF8 FGFR2 FGFR3 NPR2 PTH1R
13 muscle MP:0005369 9.88 CBL COMP FGF8 FGFR2 NPR2 STAT1
14 hearing/vestibular/ear MP:0005377 9.83 CBL FGF8 FGFR2 FGFR3
15 nervous system MP:0003631 9.8 FGF8 FGFR2 FGFR3 NPR2 PTH1R STAT1
16 neoplasm MP:0002006 9.67 FGFR2 FGFR3 PTH1R STAT1
17 normal MP:0002873 9.65 COMP FGF8 FGFR2 FGFR3 STAT1
18 respiratory system MP:0005388 9.63 CBL FGF8 FGFR2 FGFR3 NPR2 PTH1R
19 skeleton MP:0005390 9.56 CBL COMP FGF8 FGFR2 FGFR3 NPR2
20 vision/eye MP:0005391 9.02 FGF8 FGFR2 FGFR3 PTH1R STAT1
Sources

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Glucagon Approved Phase 2 16941-32-5
4
Ustekinumab Approved, Investigational Phase 2 815610-63-0
5 Hormones Phase 2
6 Hypoglycemic Agents Phase 2
7 Incretins Phase 2
8 Gastrointestinal Agents Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Glucagon-Like Peptide 1 Phase 2
11 Hormone Antagonists Phase 2
12 Dermatologic Agents Phase 2
13
Nicotine Approved Phase 1 54-11-5 89594 942
14 Central Nervous System Stimulants Phase 1
15 Peripheral Nervous System Agents Phase 1
16 Nicotinic Agonists Phase 1
17 Neurotransmitter Agents Phase 1
18 Cholinergic Agents Phase 1
19 Autonomic 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

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Genetic Tests for Thanatophoric Dysplasia, Type I

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Genetic tests related to Thanatophoric Dysplasia, Type I:

# Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type 1 30 FGFR3
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Anatomical Context for Thanatophoric Dysplasia, Type I

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

42
Skin, Eye, Bone, Testes, Kidney, Temporal Lobe, Brain
Sources

Publications for Thanatophoric Dysplasia, Type I

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Articles related to Thanatophoric Dysplasia, Type I:

(show top 50) (show all 193)
# Title Authors Year
1
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis. ( 30610483 )
2019
2
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
3
Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia. ( 29458880 )
2018
4
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months. ( 30252581 )
2018
5
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. ( 28674909 )
2017
6
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. ( 28249712 )
2017
7
Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3. ( 28254233 )
2017
8
Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements. ( 28600053 )
2017
9
A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester. ( 27006844 )
2016
10
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. ( 27028100 )
2016
11
Thanatophoric dysplasia: A review. ( 27245526 )
2016
12
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD. ( 30226972 )
2016
13
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. ( 25728633 )
2015
14
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2015
15
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. ( 25119967 )
2015
16
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. ( 25606676 )
2015
17
Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. ( 25671245 )
2015
18
A case of thanatophoric dysplasia type 2: a novel mutation. ( 25800480 )
2015
19
Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin. ( 26043509 )
2015
20
Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia. ( 26576586 )
2015
21
Thanatophoric Dysplasia: A Case Report. ( 26675119 )
2015
22
Lethal short limb dwarfism: thanatophoric dysplasia- type I. ( 25584280 )
2014
23
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
24
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. ( 24585534 )
2014
25
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. ( 24678489 )
2014
26
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. ( 24859745 )
2014
27
Thanatophoric dysplasia type I: a rare case report at fetal autopsy. ( 25328339 )
2014
28
Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study. ( 28580325 )
2014
29
Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology. ( 22744731 )
2013
30
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
31
Growth and development in thanatophoric dysplasia - an update 25 years later. ( 25356217 )
2013
32
Thanatophoric dysplasia: autopsy findings over a 25-year period. ( 23323754 )
2013
33
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. ( 23408600 )
2013
34
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. ( 23551494 )
2013
35
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. ( 23573386 )
2013
36
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
37
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
38
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
39
High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: case report. ( 22508320 )
2012
40
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
41
Thanatophoric dysplasia, type I. ( 22643294 )
2012
42
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. ( 22414243 )
2012
43
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. ( 22734441 )
2012
44
Disruption of a Sox9-Ī²-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. ( 22843502 )
2012
45
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. ( 23014564 )
2012
46
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
47
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
48
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis. ( 20569165 )
2011
49
Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression. ( 21155935 )
2011
50
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis. ( 21671381 )
2011
Sources

Variations for Thanatophoric Dysplasia, Type I

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

76
# 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 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
3 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
4 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
5 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
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.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
8 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
9 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
10 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913485 GRCh37 Chromosome 4, 1806099: 1806099
11 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913485 GRCh38 Chromosome 4, 1804372: 1804372
12 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
13 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic rs121913484 GRCh37 Chromosome 4, 1806092: 1806092
14 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic rs121913484 GRCh38 Chromosome 4, 1804365: 1804365
15 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
16 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
17 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
18 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
19 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
20 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
21 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
22 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
23 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
24 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
25 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
26 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh38 Chromosome 4, 1804362: 1804362
27 FGFR3 NM_000142.4(FGFR3): c.1454A> G (p.Gln485Arg) single nucleotide variant no interpretation for the single variant rs267606808 GRCh37 Chromosome 4, 1807123: 1807123
28 FGFR3 NM_000142.4(FGFR3): c.1454A> G (p.Gln485Arg) single nucleotide variant no interpretation for the single variant rs267606808 GRCh38 Chromosome 4, 1805396: 1805396
29 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
30 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
31 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
32 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh38 Chromosome 4, 1807261: 1807261
33 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
34 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
35 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
36 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
37 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
38 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
39 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh37 Chromosome 4, 1808017: 1808017
40 FGFR3 NM_000142.4(FGFR3): c.1993G> T (p.Ala665Ser) single nucleotide variant Uncertain significance rs764892330 GRCh38 Chromosome 4, 1806290: 1806290
41 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh37 Chromosome 4, 1808395: 1808395
42 FGFR3 NM_000142.4(FGFR3): c.2153A> G (p.Asn718Ser) single nucleotide variant Uncertain significance rs139773438 GRCh38 Chromosome 4, 1806668: 1806668
43 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh37 Chromosome 4, 1801071: 1801071
44 FGFR3 NM_000142.4(FGFR3): c.200G> A (p.Gly67Asp) single nucleotide variant Uncertain significance rs369232922 GRCh38 Chromosome 4, 1799344: 1799344
Sources

Expression for Thanatophoric Dysplasia, Type I

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

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 65
Show member pathways
 13.25 CBL FGF8 FGFR2 FGFR3 STAT1
2
Cytokine Signaling in Immune system 67
Show member pathways
 13.08 CBL FGF8 FGFR2 FGFR3 STAT1
3
Nanog in Mammalian ESC Pluripotency 65
Show member pathways
 13 CBL FGF8 FGFR2 FGFR3 NPR2
4
p70S6K Signaling 65
Show member pathways
 12.77 FGF8 FGFR2 FGFR3 STAT1
5
PI3K-Akt signaling pathway 38
Show member pathways
 12.6 COMP FGF8 FGFR2 FGFR3 STAT1
6
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.45 CBL FGF8 FGFR2 FGFR3
7
Glioma 38
Show member pathways
 12.42 CBL FGF8 FGFR2 FGFR3
8
Regulation of actin cytoskeleton 38 1
12.39 FGF8 FGFR2 FGFR3
9
Pathways in cancer 38
12.28 CBL FGF8 FGFR2 FGFR3 STAT1
10
mTOR signalling 67
Show member pathways
 12.17 FGF8 FGFR2 FGFR3
11
RhoGDI Pathway 65
Show member pathways
 12.16 FGF8 FGFR2 FGFR3
12
Endocytosis 38
12.15 CBL FGFR2 FGFR3
13
Development FGFR signaling pathway 23
Show member pathways
 12.15 CBL FGF8 FGFR2 FGFR3
14
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.13 CBL FGF8 FGFR2 FGFR3
15
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.99 FGF8 FGFR2 FGFR3 STAT1
16
Tyrosine Kinases / Adaptors 4
11.9 CBL FGFR2 FGFR3
17
Signaling by FGFR2 67
Show member pathways
 11.85 CBL FGF8 FGFR2 FGFR3
18
Neural Crest Differentiation 1
11.68 FGF8 FGFR2 FGFR3
19
Central carbon metabolism in cancer 38
11.46 FGFR2 FGFR3
20
Signaling by FGFR2 in disease 67
Show member pathways
 11.46 FGF8 FGFR2 FGFR3 STAT1
21
G-protein signaling_RhoA regulation pathway 23
11.45 CBL FGF8 FGFR2 FGFR3
22
Interleukin-6 family signaling 67
Show member pathways
 11.41 CBL STAT1
23
Signaling by activated point mutants of FGFR3 67
Show member pathways
 11.4 FGF8 FGFR3
24
Endochondral Ossification 1
11.39 FGFR3 PTH1R STAT1
25
Interferon type I signaling pathways 1
11.37 CBL STAT1
26
PDGFR-beta signaling pathway 1
11.36 CBL STAT1
27
Alzheimers Disease Pathway 65
11.28 FGFR2 FGFR3
28
Vemurafenib Pathway, Pharmacodynamics 62
11.25 FGFR2 FGFR3
29
FGF signaling pathway 1
11.17 CBL FGFR2 STAT1
30
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.03 CBL FGF8 FGFR2 FGFR3 STAT1
31
Cytoskeleton remodeling_RalB regulation pathway 23
10.89 FGF8 FGFR2 FGFR3
Sources

GO Terms for Thanatophoric Dysplasia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 FGFR2 FGFR3 PTH1R

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.86 COMP FGF8 FGFR2 FGFR3
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.75 FGF8 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.74 FGF8 FGFR2 FGFR3
4 positive regulation of protein kinase B signaling GO:0051897 9.69 FGF8 FGFR2 FGFR3
5 skeletal system development GO:0001501 9.67 COMP FGFR3 PTH1R
6 cell fate commitment GO:0045165 9.62 FGF8 FGFR2
7 inner ear morphogenesis GO:0042472 9.62 FGF8 FGFR2
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.61 FGFR2 STAT1
9 positive regulation of cell division GO:0051781 9.61 FGF8 FGFR2
10 chondrocyte differentiation GO:0002062 9.6 FGFR3 PTH1R
11 bone morphogenesis GO:0060349 9.59 FGFR2 FGFR3
12 odontogenesis GO:0042476 9.58 FGF8 FGFR2
13 outflow tract septum morphogenesis GO:0003148 9.55 FGF8 FGFR2
14 positive regulation of cell proliferation GO:0008284 9.55 FGF8 FGFR2 FGFR3 PTH1R STAT1
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FGFR2 STAT1
16 peptidyl-tyrosine phosphorylation GO:0018108 9.52 FGFR2 FGFR3
17 bone development GO:0060348 9.5 FGF8 FGFR2 NPR2
18 interleukin-6-mediated signaling pathway GO:0070102 9.48 CBL STAT1
19 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGF8 FGFR2
20 positive regulation of phospholipase activity GO:0010518 9.43 FGFR2 FGFR3
21 negative regulation of apoptotic process GO:0043066 9.43 CBL COMP FGF8
22 endochondral bone growth GO:0003416 9.4 FGFR2 FGFR3
23 otic vesicle formation GO:0030916 9.37 FGF8 FGFR2
24 bone mineralization GO:0030282 9.13 FGFR2 FGFR3 PTH1R
25 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 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.37 FGFR2 FGFR3
2 peptide hormone binding GO:0017046 9.32 NPR2 PTH1R
3 fibroblast growth factor binding GO:0017134 9.16 FGFR2 FGFR3
4 transmembrane signaling receptor activity GO:0004888 8.96 PTH1R
5 protein tyrosine kinase activity GO:0004713 8.96 FGFR2 FGFR3
6 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3
Sources

Sources for Thanatophoric Dysplasia, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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