TD1
MCID: THN009
MIFTS: 62

Thanatophoric Dysplasia, Type I (TD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Thanatophoric Dysplasia, Type I

MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 57 12 71
Thanatophoric Dysplasia 57 11 24 19 42 58 75 28 53 43 14 33
Thanatophoric Dwarfism 57 19 42 73 33
Thanatophoric Dysplasia Type 1 19 58 28 5
Td1 57 19 58 73
Thanatophoric Short Stature 42 31 33
Td 57 19 58
Thanatophoric Dysplasia Type I 19 73
Thanatophoric Dwarfism Type 1 19 58
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type 57
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 73
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type 57
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 73
Thanatophoric Dwarfism or Short Stature 33
Skeletal Dysplasia, San Diego Type 19
Thanatophoric Dwarfism Syndrome 33
Td - [thanatophoric Dwarfism] 33
Thanatophoric Dysplasia 1 73
Thanatophoric Dwarfism 1 19
Dwarfism Thanatophoric 19
Dwarf, Thanatophoric 42
Plsd San Diego Type 19
Thanatophoric Dwarf 33

Characteristics:


Inheritance:

Thanatophoric Dysplasia, Type I: Autosomal dominant 57
Thanatophoric Dysplasia: Autosomal dominant 58
Thanatophoric Dysplasia Type 1: Autosomal dominant 58

Prevelance:

Thanatophoric Dysplasia: 1-9/100000 58

Age Of Onset:

Thanatophoric Dysplasia: Antenatal,Neonatal 58
Thanatophoric Dysplasia Type 1: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death in majority of infants soon after birth


GeneReviews:

24
Penetrance The penetrance is 100%.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Thanatophoric Dysplasia, Type I

MedlinePlus Genetics: 42 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.Researchers have described two major forms of thanatophoric dysplasia, 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.The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.

MalaCards based summary: Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to platyspondylic lethal skeletal dysplasia, torrance type and achondrogenesis. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include temporal lobe, bone and spinal cord, and related phenotypes are macrocephaly and hypotonia

Orphanet 58 Thanatophoric dysplasia type 1: A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.

Thanatophoric dysplasia: A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs.

GARD: 19 Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia.

Disease Ontology: 11 An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

Wikipedia: 75 Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small... more...

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 top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 platyspondylic lethal skeletal dysplasia, torrance type 32.3 COMP COL2A1
2 achondrogenesis 30.7 FGFR3 COMP COL2A1
3 cartilage disease 30.5 IHH COMP COL2A1
4 nevus, epidermal 30.2 FGFR3 FGFR2 FGFR1
5 bone disease 30.1 PTH1R FGFR3 FGFR2 FGFR1 COMP COL2A1
6 chromosome 2q35 duplication syndrome 30.1 IHH FGFR3 FGFR2 FGFR1 FGF8
7 brachydactyly 29.9 NPR2 IHH FGFR3 COMP COL2A1
8 synostosis 29.9 IHH FGFR3 FGFR2 FGFR1 FGF8
9 holoprosencephaly 29.8 IHH FGFR3 FGFR2 FGFR1 FGF8
10 brittle bone disorder 29.7 PTH1R IHH FGFR3 FGF2 COMP COL2A1
11 achondroplasia 29.2 TK1 SHOX PTH1R NPPC FGFR3 FGFR2
12 acromesomelic dysplasia 1 29.2 SHOX NPR2 NPPC FGFR3 COL2A1
13 isolated growth hormone deficiency, type ia 29.1 SHOX PTH1R NPR2 NPPC FGFR3 FGFR2
14 cleft palate, isolated 29.0 IHH FGFR3 FGFR2 FGFR1 FGF8 FGF18
15 acromesomelic dysplasia 29.0 SHOX NPR2 NPPC IHH FGFR3 COL2A1
16 apert syndrome 28.8 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF8
17 achondroplasia, severe, with developmental delay and acanthosis nigricans 28.6 STAT1 PTH1R NPR2 NPPC IHH FRS2
18 hypochondroplasia 27.9 TK1 SHOX NPR2 NPPC IHH FGFR4
19 craniosynostosis 27.4 NPR2 IHH FRS2 FGFR4 FGFR3 FGFR2
20 crouzon syndrome 27.4 NPR2 NPPC IHH FRS2 FGFR4 FGFR3
21 osteochondrodysplasia 27.1 STAT1 SHOX PTH1R NPR2 NPPC IHH
22 thanatophoric dysplasia, glasgow variant 11.2
23 thanatophoric dysplasia, type ii 11.0
24 hydrocephalus 10.4
25 myeloma, multiple 10.4
26 plasma cell neoplasm 10.4
27 kleeblattschaedel 10.3
28 respiratory failure 10.3
29 hemifacial hyperplasia 10.3 FGFR3 FGFR2
30 polyhydramnios 10.3
31 megalencephaly 10.3
32 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
33 acanthosis nigricans 10.3
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
35 testicular germ cell tumor 10.2
36 spermatocytoma 10.2
37 encephalocele 10.2
38 plagiocephaly 10.2 FGFR3 FGFR2 FGFR1
39 hypertelorism, microtia, facial clefting syndrome 10.2 FGFR3 FGFR2 FGFR1
40 hartsfield syndrome 10.2 FGFR1 FGF8
41 luteoma 10.2 FGFR3 FGFR2
42 congenital disorder of glycosylation, type iim 10.2 FGFR3 FGFR2 FGFR1
43 primary bone dysplasia 10.2 FGFR3 COL2A1
44 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
45 osteogenesis imperfecta, type ii 10.2
46 achondrogenesis, type ia 10.2
47 schneckenbecken dysplasia 10.2
48 spondyloepiphyseal dysplasia congenita 10.2 FGFR3 COMP COL2A1
49 normosmic congenital hypogonadotropic hypogonadism 10.1 FGFR1 FGF8
50 chondromalacia 10.1 COMP COL2A1

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

Human phenotypes related to Thanatophoric Dysplasia, Type I:

58 30 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000256
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001252
3 respiratory insufficiency 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0002093
4 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002652
5 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0005280
6 short thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010306
7 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0012368
8 brachydactyly 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001156
9 platyspondyly 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000926
10 split hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001171
11 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001582
12 increased nuchal translucency 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0010880
13 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000774
14 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002983
15 disproportionate short-limb short stature 58 30 Very rare (1%) Very frequent (99-80%)
HP:0008873
16 pulmonary hypoplasia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002089
17 intellectual disability, profound 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002187
18 femoral bowing 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002980
19 hypoplastic ilia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000946
20 short femur 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003097
21 short greater sciatic notch 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003185
22 lethal short-limbed short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008909
23 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
24 abnormal sacroiliac joint morphology 30 Hallmark (90%) HP:0100781
25 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002007
26 kyphosis 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
HP:0002808
27 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000365
28 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
29 polyhydramnios 58 30 Very rare (1%) Occasional (29-5%)
Frequent (79-30%)
HP:0001561
30 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002119
31 proptosis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000520
32 aplasia/hypoplasia of the lungs 58 30 Frequent (33%) Frequent (79-30%)
HP:0006703
33 midface retrusion 58 30 Very rare (1%) Frequent (79-30%)
HP:0011800
34 wide anterior fontanel 58 30 Frequent (33%) Frequent (79-30%)
HP:0000260
35 gray matter heterotopia 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0002282
36 excessive wrinkled skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0007392
37 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001250
38 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000238
39 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
40 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001387
41 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
42 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001631
43 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
44 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001643
45 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005692
46 abnormality of the kidney 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000077
47 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000956
48 cloverleaf skull 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002676
49 short neck 30 Very rare (1%) HP:0000470
50 prominent forehead 30 Very rare (1%) HP:0011220

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
frontal bossing

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Skull:
small foramen magnum
cloverleaf skull rarely

Skeletal Spine:
severe platyspondyly

Prenatal Manifestations Movement:
decreased fetal activity

Growth Other:
severe growth deficiency in survivors

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

Head And Neck Face:
small face

Chest External Features:
narrow thorax

Growth Height:
dwarfism, lethal micromelic

Respiratory Lung:
respiratory insufficiency/failure

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

Clinical features from OMIM®:

187600 (Updated 08-Dec-2022)

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

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.62 CBL
2 Decreased viability GR00055-A-2 9.62 CBL
3 Decreased viability GR00221-A-1 9.62 FGFR1 FGFR3 IHH TK1
4 Decreased viability GR00221-A-2 9.62 CBL FGFR1 FGFR3 IHH TK1
5 Decreased viability GR00221-A-3 9.62 CBL FGFR3
6 Decreased viability GR00221-A-4 9.62 TK1
7 Decreased viability GR00249-S 9.62 FGFR3
8 Decreased viability GR00342-S-1 9.62 TK1
9 Decreased viability GR00342-S-2 9.62 TK1
10 Decreased viability GR00342-S-3 9.62 TK1
11 Decreased viability GR00381-A-1 9.62 TK1
12 Decreased viability GR00386-A-1 9.62 FGFR1

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 CBL COL2A1 COMP FGF1 FGF18 FGF2
2 nervous system MP:0003631 10.43 COL2A1 FGF1 FGF13 FGF2 FGF8 FGFR1
3 limbs/digits/tail MP:0005371 10.41 CBL COL2A1 COMP FGF18 FGF8 FGFR1
4 growth/size/body region MP:0005378 10.41 CBL COL2A1 COMP FGF18 FGF8 FGFR1
5 cellular MP:0005384 10.32 CBL COL2A1 COMP FGF13 FGF18 FGF2
6 cardiovascular system MP:0005385 10.3 CBL COL2A1 COMP FGF18 FGF2 FGF8
7 craniofacial MP:0005382 10.27 CBL COL2A1 FGF18 FGF8 FGFR1 FGFR2
8 digestive/alimentary MP:0005381 10.25 COL2A1 FGF18 FGF8 FGFR1 FGFR2 FGFR3
9 behavior/neurological MP:0005386 10.25 CBL COL2A1 COMP FGF13 FGF2 FGF8
10 normal MP:0002873 10.24 COL2A1 COMP FGF1 FGF8 FGFR1 FGFR2
11 muscle MP:0005369 10.23 CBL COMP FGF2 FGF8 FGFR1 FGFR2
12 endocrine/exocrine gland MP:0005379 10.22 CBL FGF8 FGFR1 FGFR2 IHH NPPC
13 immune system MP:0005387 10.18 CBL COL2A1 COMP FGF8 FGFR1 FGFR2
14 hearing/vestibular/ear MP:0005377 10.15 CBL COL2A1 FGF2 FGF8 FGFR1 FGFR2
15 respiratory system MP:0005388 10.15 CBL COL2A1 FGF18 FGF8 FGFR2 FGFR3
16 skeleton MP:0005390 10.1 CBL COL2A1 COMP FGF18 FGF2 FGF8
17 reproductive system MP:0005389 10.02 CBL FGF2 FGF8 FGFR1 FGFR2 FGFR3
18 vision/eye MP:0005391 9.85 COL2A1 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19 hematopoietic system MP:0005397 9.73 CBL FGF1 FGF2 FGF8 FGFR1 FGFR2
20 mortality/aging MP:0010768 9.55 CBL COL2A1 FGF13 FGF18 FGF2 FGF8

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

Search Clinical Trials, 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
2 Thanatophoric Dysplasia 28

Anatomical Context for Thanatophoric Dysplasia, Type I

Organs/tissues related to Thanatophoric Dysplasia, Type I:

MalaCards : Temporal Lobe, Bone, Spinal Cord, Skin, Brain, Kidney, Heart

Publications for Thanatophoric Dysplasia, Type I

Articles related to Thanatophoric Dysplasia, Type I:

(show top 50) (show all 589)
# Title Authors PMID Year
1
Thanatophoric dysplasia caused by double missense FGFR3 mutations. 53 62 24 57 5
19449430 2009
2
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 53 62 24 57 5
9677066 1998
3
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 53 62 57 5
8845844 1996
4
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 53 62 57 5
8589699 1995
5
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 53 62 57 5
7773297 1995
6
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 53 62 24 5
12833394 2003
7
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 53 62 24 5
10053006 1999
8
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 62 57 5
10073901 1999
9
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 62 24 57
10360402 1999
10
Long-term survival in typical thanatophoric dysplasia type 1. 62 24 57
9182787 1997
11
Growth and development in thanatophoric dysplasia. 62 24 57
2596513 1989
12
The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. 53 62 5
17509076 2007
13
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 53 62 5
16841094 2006
14
International nosology and classification of constitutional disorders of bone (2001). 24 57
12400068 2002
15
Thanatophoric dysplasia type I with syndactyly. 53 62 5
9843049 1998
16
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. 53 62 57
9302269 1997
17
Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. 53 62 5
9207791 1997
18
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 53 62 5
7647778 1995
19
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. 62 57
18698630 2008
20
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? 53 62 24
17375526 2006
21
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. 53 62 24
14751560 2004
22
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. 53 62 24
12624096 2003
23
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. 53 62 24
11754059 2001
24
Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. 53 62 24
10890204 2000
25
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. 53 62 24
10377013 1999
26
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 53 62 24
9790257 1998
27
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 62 5
10671061 1998
28
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. 62 5
8858131 1996
29
Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. 62 57
8843623 1996
30
De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. 62 57
7643360 1995
31
Thanatophoric dysplasia of the straight-bone type (type 2). 62 57
1345514 1992
32
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. 62 57
1308351 1992
33
Thanatophoric dysplasia in identical twins. 62 57
2585471 1989
34
Thanatophoric dysplasia in identical twins. 62 57
2716037 1989
35
Prevalence of lethal osteochondrodysplasias in Denmark. 62 57
2789000 1989
36
Thanatophoric dysplasia: an autosomal dominant condition? 62 57
3239573 1988
37
Abnormal ossification in thanatophoric dysplasia. 62 57
3132190 1988
38
A boy with thanatophoric dysplasia surviving 212 days. 62 57
3436092 1987
39
The birth prevalence rates for the skeletal dysplasias. 62 57
3746832 1986
40
An infant with thanatophoric dwarfism surviving 169 days. 62 57
3955867 1986
41
Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis. 62 57
4073120 1985
42
Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant. 62 57
3901754 1985
43
Prenatal diagnosis of thanatophoric dysplasia at 24 weeks. 62 57
6741994 1984
44
Thanatophoric dysplasia of identical twins. 62 57
6538757 1984
45
Neuropathologic findings in thanatophoric dysplasia. 62 57
6464678 1984
46
Neuropathological findings in thanatophoric dysplasia. 62 57
6687528 1983
47
Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. 62 57
448481 1979
48
Thanatophoric dwarfism. Two case reports and survey of the literature. 62 57
872478 1977
49
[Genetic study of thanatophoric dwarfism]. 62 57
4548819 1974
50
Letter: Thanatophoric dwarfism in triplets. 62 57
4137011 1974

Variations for Thanatophoric Dysplasia, Type I

ClinVar genetic disease variations for Thanatophoric Dysplasia, Type I:

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala) SNV Pathogenic
1065490 GRCh37: 4:1807895-1807895
GRCh38: 4:1806168-1806168
2 FGFR3 NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) SNV Pathogenic
16335 rs121913101 GRCh37: 4:1808987-1808987
GRCh38: 4:1807260-1807260
3 FGFR3 NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) SNV Pathogenic
16336 rs121913103 GRCh37: 4:1808989-1808989
GRCh38: 4:1807262-1807262
4 FGFR3 NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) SNV Pathogenic
16334 rs121913101 GRCh37: 4:1808987-1808987
GRCh38: 4:1807260-1807260
5 FGFR3 NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) SNV Pathogenic
65563 rs121913103 GRCh37: 4:1808989-1808989
GRCh38: 4:1807262-1807262
6 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
7 FGFR3 NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) SNV Pathogenic
16333 rs121913484 GRCh37: 4:1806092-1806092
GRCh38: 4:1804365-1804365
8 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
9 FGFR3 NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV Pathogenic
16341 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
10 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
11 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
12 FGFR3 NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV Pathogenic
16359 rs121913479 GRCh37: 4:1806089-1806089
GRCh38: 4:1804362-1804362
13 FGFR3 NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV Pathogenic
441277 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
14 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic
16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
15 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
16 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
17 FGFR3 NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) SNV Pathogenic/Likely Pathogenic
65564 rs121913103 GRCh37: 4:1808989-1808989
GRCh38: 4:1807262-1807262
18 FGFR3 NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) SNV Conflicting Interpretations Of Pathogenicity
16342 rs121913485 GRCh37: 4:1806099-1806099
GRCh38: 4:1804372-1804372
19 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
20 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
21 FGFR3 NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) SNV Uncertain Significance
978772 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
22 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
23 FGFR3 NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) SNV Uncertain Significance
633464 rs1560437651 GRCh37: 4:1807188-1807188
GRCh38: 4:1805461-1805461
24 FGFR3 NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) SNV Not Provided
65562 rs397515514 GRCh37: 4:1808988-1808988
GRCh38: 4:1807261-1807261
25 FGFR3 NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) SNV Not Provided
65561 rs121913101 GRCh37: 4:1808987-1808987
GRCh38: 4:1807260-1807260

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

73
# 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

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 top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 CBL COL2A1 FGF1 FGF13 FGF18 FGF2
2 13.91 CBL COL2A1 FGF1 FGF18 FGF2 FGF8
3
Show member pathways
13.9 STAT1 IHH FRS2 FGFR4 FGFR3 FGFR2
4
Show member pathways
13.86 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
5
Show member pathways
13.78 FGF1 FGF13 FGF18 FGF2 FGF8 FGFR1
6
Show member pathways
13.66 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
7
Show member pathways
13.65 IHH FGFR4 FGFR3 FGFR2 FGFR1 FGF8
8
Show member pathways
13.53 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
9
Show member pathways
13.52 STAT1 IHH FRS2 FGFR4 FGFR3 FGFR2
10
Show member pathways
13.45 FGF1 FGF13 FGF18 FGF2 FGF8 FGFR1
11
Show member pathways
13.43 NPR2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
12
Show member pathways
13.41 FGF1 FGF13 FGF18 FGF2 FGF8 FGFR1
13
Show member pathways
13.23 COL2A1 FGF1 FGF13 FGF18 FGF2 FGF8
14
Show member pathways
13.22 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
15
Show member pathways
13.21 STAT1 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
16
Show member pathways
13.11 COL2A1 COMP FGF1 FGF13 FGF18 FGF2
17
Show member pathways
13.08 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
18
Show member pathways
12.89 FGF1 FGF18 FGF2 FGF8 FGFR1 FGFR2
19
Show member pathways
12.88 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
20
Show member pathways
12.86 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
21
Show member pathways
12.85 CBL FGF1 FGF2 FGFR1 FGFR2 FGFR3
22 12.85 FGF1 FGF13 FGF18 FGF2 FGF8 FGFR1
23 12.82 CBL COL2A1 FGF1 FGF18 FGF2 FGF8
24
Show member pathways
12.8 FGF1 FGF13 FGF18 FGF2 FGF8 FGFR1
25
Show member pathways
12.66 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
26
Show member pathways
12.64 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
27
Show member pathways
12.56 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
28
Show member pathways
12.56 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
29 12.55 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
30
Show member pathways
12.44 FGFR4 FGFR3 FGFR2 FGFR1
31
Show member pathways
12.41 STAT1 FRS2 FGFR1 FGF2 CBL
32
Show member pathways
12.41 CBL FGF1 FGF13 FGF18 FGF2 FGF8
33
Show member pathways
12.33 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
34 12.32 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF2
35 12.29 FGFR1 FGFR2 FGFR3 FGFR4
36
Show member pathways
12.22 FGFR4 FGFR3 FGFR2 FGFR1
37 12.2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8 FGF2
38 12.16 FGFR4 FGFR3 FGFR2 FGFR1
39
Show member pathways
12.16 STAT1 PTH1R IHH FGFR3 FGFR1 FGF2
40 12.14 FGFR3 FGFR2 FGFR1 FGF8 FGF2 COL2A1
41
Show member pathways
12.13 CBL FGF1 FGF18 FGF2 FGF8 FGFR1
42
Show member pathways
12.08 STAT1 FRS2 FGFR1 FGF8 FGF2 FGF1
43 12.06 FGFR4 FGFR3 FGFR2 FGFR1 FGF2 FGF1
44
Show member pathways
11.97 FGFR4 FGFR3 FGFR2 FGFR1
45 11.97 FGFR4 FGFR3 FGFR1 FGF8 FGF2
46 11.89 FGF8 FGF2 COL2A1
47 11.88 FGFR4 FGFR3 FGFR2 FGFR1
48
Show member pathways
11.85 FGF1 FGF18 FGF2 FGF8 FGFR1 FGFR2
49
Show member pathways
11.82 FGFR3 FGF8 FGF2 FGF18 FGF1

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 plasma membrane GO:0005886 10.18 PTH1R NPR2 FRS2 FGFR4 FGFR3 FGFR2
2 plasma membrane GO:0005887 10.18 PTH1R NPR2 FRS2 FGFR4 FGFR3 FGFR2
3 extracellular region GO:0005576 9.72 NPPC IHH FGFR4 FGFR3 FGFR2 FGFR1
4 receptor complex GO:0043235 9.65 FGFR1 FGFR2 FGFR3 FGFR4 PTH1R

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 10.36 FGF13 FGF18 FGFR2 FGFR3 IHH
2 peptidyl-tyrosine phosphorylation GO:0018108 10.29 FGFR4 FGFR3 FGFR2 FGFR1
3 positive regulation of MAPK cascade GO:0043410 10.28 FRS2 FGFR3 FGFR2 FGFR1 FGF2
4 MAPK cascade GO:0000165 10.27 FGFR3 FGFR1 FGF8 FGF13
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.27 FRS2 FGFR4 FGFR3 FGFR2 FGFR1
6 regulation of cell migration GO:0030334 10.26 FGF1 FGF18 FGF2 FGF8
7 animal organ morphogenesis GO:0009887 10.26 COMP FGF1 FGF18 FGF2 FGF8 FGFR2
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.25 FGF1 FGF18 FGF2 FGF8 FGFR2 FGFR3
9 positive regulation of MAP kinase activity GO:0043406 10.21 FGFR1 FGF2 FGF18 FGF1
10 positive regulation of kinase activity GO:0033674 10.21 FGFR1 FGFR2 FGFR3 FGFR4
11 positive regulation of epithelial cell proliferation GO:0050679 10.2 FGF1 FGF2 FGFR2 IHH
12 cell population proliferation GO:0008283 10.17 PTH1R IHH FGF8 FGF2 FGF18
13 skeletal system development GO:0001501 10.17 COL2A1 COMP FGFR1 FGFR3 IHH PTH1R
14 positive regulation of cell population proliferation GO:0008284 10.16 FGF1 FGF18 FGF2 FGF8 FGFR1 FGFR2
15 positive regulation of blood vessel endothelial cell migration GO:0043536 10.15 FGFR1 FGF2 FGF18
16 bone mineralization GO:0030282 10.15 COMP FGFR2 FGFR3 PTH1R
17 lung development GO:0030324 10.15 FGFR2 FGF8 FGF2 FGF18 FGF1
18 positive regulation of cell division GO:0051781 10.14 FGFR2 FGF8 FGF2 FGF1
19 endochondral ossification GO:0001958 10.12 COL2A1 FGF18 FGFR3
20 bone development GO:0060348 10.12 COL2A1 FGF8 FGFR2 NPR2
21 inner ear morphogenesis GO:0042472 10.1 FGFR2 FGF8 COL2A1
22 positive regulation of smooth muscle cell proliferation GO:0048661 10.09 STAT1 FGFR2 FGF2
23 positive regulation of mesenchymal cell proliferation GO:0002053 10.09 FGFR2 IHH STAT1
24 skeletal system morphogenesis GO:0048705 10.06 FGFR2 FGFR1 COL2A1
25 bone morphogenesis GO:0060349 10.05 FGFR3 FGFR2 COMP
26 chondrocyte proliferation GO:0035988 10.03 IHH FGFR3 COMP
27 chondrocyte differentiation GO:0002062 10.03 PTH1R IHH FGFR3 FGF18 COL2A1
28 proteoglycan metabolic process GO:0006029 10 IHH COL2A1
29 otic vesicle formation GO:0030916 9.99 FGFR2 FGF8
30 positive regulation of cGMP-mediated signaling GO:0010753 9.99 NPR2 NPPC
31 positive regulation of phospholipase activity GO:0010518 9.99 FGFR1 FGFR2 FGFR3
32 branching morphogenesis of a nerve GO:0048755 9.98 FGF13 FGFR2
33 thyroid-stimulating hormone-secreting cell differentiation GO:0060129 9.98 FGF2 FGF8
34 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.98 FGFR2 FRS2
35 organ induction GO:0001759 9.97 FRS2 FGF8 FGF2 FGF1
36 negative regulation of oocyte maturation GO:1900194 9.96 NPR2 NPPC
37 regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000544 9.94 FGF2 FGF1
38 corticotropin hormone secreting cell differentiation GO:0060128 9.93 FGF8 FGF2
39 negative regulation of meiotic cell cycle GO:0051447 9.93 NPR2 NPPC
40 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.93 FGFR1 FGF2 FGF18
41 endochondral bone growth GO:0003416 9.92 FGFR3 FGFR2 COMP
42 ossification GO:0001503 9.91 PTH1R NPR2 NPPC IHH FGF18 COMP
43 multicellular organism development GO:0007275 9.89 FGFR4 FGFR3 FGFR2 FGFR1
44 animal organ development GO:0048513 9.82 FGF2 IHH NPPC
45 reproductive process GO:0022414 9.69 NPR2 NPPC
46 fibroblast growth factor receptor signaling pathway GO:0008543 9.58 FRS2 FGFR4 FGFR3 FGFR2 FGFR1 FGF8
47 cellular response to endogenous stimulus GO:0071495 9.26 FGFR4 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 10.07 FGF1 FGF13 FGF18 FGF2 FGF8
2 heparin binding GO:0008201 10.03 COMP FGF1 FGF2 FGFR1 FGFR2 FGFR4
3 protein tyrosine kinase activity GO:0004713 9.98 FGFR4 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.92 FGFR4 FGFR3 FGFR2 FGFR1
5 type 1 fibroblast growth factor receptor binding GO:0005105 9.78 FGF8 FGF18
6 type 2 fibroblast growth factor receptor binding GO:0005111 9.76 FGF8 FGF18
7 fibroblast growth factor binding GO:0017134 9.76 FGFR4 FGFR3 FGFR2 FGFR1
8 receptor-receptor interaction GO:0090722 9.71 FGFR1 FGF2
9 fibroblast growth factor receptor binding GO:0005104 9.65 FRS2 FGF8 FGF2 FGF18 FGF1
10 fibroblast growth factor receptor activity GO:0005007 9.23 FGFR4 FGFR3 FGFR2 FGFR1

Sources for Thanatophoric Dysplasia, Type I

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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