TD
MCID: THN004
MIFTS: 59

Thanatophoric Dysplasia Type 1 (TD) malady

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

Summaries for Thanatophoric Dysplasia Type 1

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48OMIM, 34MalaCards
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MalaCards: Thanatophoric Dysplasia Type 1, also known as thanatophoric dysplasia type i, is related to achondroplasia and thanatophoric dysplasia, and has symptoms including short rib cage/thorax, rhizomelic micromelia and rhizomelic micromelia. An important gene associated with Thanatophoric Dysplasia Type 1 is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are p70S6K Signaling and Signaling by FGFR. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:48 187600,156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 1

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Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
thanatophoric dysplasia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5
thanatophoric dysplasia type 1:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5
severe achondroplasia - developmental delay - acanthosis nigricans:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

thanatophoric dysplasia type 1 44 50
thanatophoric dysplasia type i 44 21 23
thanatophoric dysplasia, type i 48 63
severe achondroplasia with developmental delay and acanthosis nigricans 63
severe achondroplasia - developmental delay - acanthosis nigricans 50
thanatophoric dwarfism type 1 50
thanatophoric dwarfism 1 44
thanatophoric dysplasia 50
thanatophoric dwarfism 50
saddan 50
td1 50
td 50


External Ids:

UMLS via Orphanet64 C0039743, C2931282, C2674173
ICD10 via Orphanet27 Q77.1, Q77.4
SNOMED-CT via Orphanet60 29352008

Related Diseases for Thanatophoric Dysplasia Type 1

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Thanatophoric Dysplasia Type 1 family:

Thanatophoric Dysplasia Thanatophoric Dysplasia Type 2

Diseases related to Thanatophoric Dysplasia Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1achondroplasia31.1FGFR2, FGFR3
2thanatophoric dysplasia31.0FGFR2, FGFR3
3hypochondroplasia30.8FGFR2, FGFR3
4skeletal dysplasias30.4FGFR2, FGFR3
5crouzon syndrome30.2FGFR3, FGFR2
6acanthosis nigricans30.2FGFR2, FGFR3
7dwarfism30.2FGFR3, FGFR2
8syndactyly30.2FGFR2, FGFR3
9bladder carcinoma30.1FGFR2, FGFR3
10thanatophoric dysplasia type 210.7
11saddan10.7
12encephalocele10.4
13thanatophoric dysplasia glasgow variant10.4
14encephaloceles10.4
15achondrogenesis10.3
16skeletal dysplasia, san diego type10.3
17renal dysplasia10.3
18cerebritis10.3
19osteogenesis imperfecta10.3
20platyspondylic lethal skeletal dysplasia torrance type10.3
21megalencephaly10.3
22hypophosphatasia10.1
23chorioangioma10.1
24holoprosencephaly10.1
25gilles de la tourette syndrome10.1
26atherosclerosis10.1
27tardive dyskinesia10.1
28spinal cord injury10.1
29osteogenesis imperfecta, type ii10.1
30craniosynostosis 410.1
31semilobar holoprosencephaly10.1
32beare-stevenson cutis gyrata syndrome10.1FGFR2
33jackson-weiss syndrome10.0FGFR2, FGFR3
34fgfr-related craniosynostosis syndromes10.0FGFR3, FGFR2
35muenke syndrome10.0FGFR2, FGFR3
36ladd syndrome10.0FGFR3, FGFR2
37infectious mononucleosis10.0FGFR3, FGFR2
38strabismus10.0FGFR2, FGFR3
39acrocephalosyndactylia10.0FGFR2, FGFR3
40saethre-chotzen syndrome10.0FGFR3, FGFR2
41synostosis10.0FGFR3, FGFR2
42craniosynostosis10.0FGFR2, FGFR3
43developmental disabilities10.0FGFR3, FGFR2
44chondrosarcoma10.0FGFR3, FGFR2
45transitional cell carcinoma10.0FGFR2, FGFR3
46skin disease10.0FGFR3, FGFR2
47colorectal cancer10.0FGFR2, FGFR3
48retinoblastoma10.0FGFR2, FGFR3
49stomach cancer9.9FGFR2, FGFR3

Graphical network of the top 20 diseases related to Thanatophoric Dysplasia Type 1:



Diseases related to thanatophoric dysplasia type 1

Symptoms for Thanatophoric Dysplasia Type 1

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

187600

Clinical features from OMIM:

187600,156830,187601

Symptoms:

50 (show all 53)
  • short rib cage/thorax
  • rhizomelic micromelia
  • intrauterine growth retardation
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • renal/kidney anomalies
  • polyhydramnios
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • flat face
  • atrial septal defect/interauricular communication
  • stillbirth/neonatal death
  • dilated cerebral ventricles without hydrocephaly
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • clavicle absent/abnormal
  • cloverleaf skull
  • small face
  • sacroiliac joints anomalies
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • rippled skin
  • trident hand/split hand/abnormal median ray
  • acanthosis nigricans
  • proptosis/exophthalmos
  • short limbs/micromelia/brachymelia
  • loose skin/skin relaxation/excess skin/creases
  • increased nuchal translucency
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • patent ductus arteriosus
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hypotonia
  • depressed nasal bridge
  • kyphosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • frontal bossing/prominent forehead
  • low set ears/posteriorly rotated ears
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hearing loss/hypoacusia/deafness
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • metaphyseal anomaly
  • congenital cardiac anomaly/malformation/cardiopathy
  • narrow rib cage/thorax
  • platyspondyly
  • short hand/brachydactyly
  • hyperextensible joints/articular hyperlaxity
  • mid-facial hypoplasia/short/small midface
  • short stature/dwarfism/nanism
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis

Drugs & Therapeutics for Thanatophoric Dysplasia Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Thanatophoric Dysplasia Type 1

Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia Type 1

Search NIH Clinical Center for Thanatophoric Dysplasia Type 1

Search CenterWatch for Thanatophoric Dysplasia Type 1

Genetic Tests for Thanatophoric Dysplasia Type 1

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21GeneTests, 23GTR
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Genetic tests related to Thanatophoric Dysplasia Type 1:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type I21 FGFR3
2 Thanatophoric Dysplasia Type 123

Anatomical Context for Thanatophoric Dysplasia Type 1

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34MalaCards
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MalaCards organs/tissues related to Thanatophoric Dysplasia Type 1:

34
Skin, Bone, Lung, Kidney

Animal Models for Thanatophoric Dysplasia Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Thanatophoric Dysplasia Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1FGFR3, FGFR2

Publications for Thanatophoric Dysplasia Type 1

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53PubMed
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Articles related to Thanatophoric Dysplasia Type 1:

idTitleAuthorsYear
1
The &quot;old theme&quot; of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with (&quot;San Diego&quot; variant) and without ragged metaphyses due to the same FGFR3 mutation. (24038754)
2013
2
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. (19752524)
2009
3
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. (19340824)
2009
4
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
5
Long-term survival in typical thanatophoric dysplasia type 1. (9182787)
1997
6
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys) (9215781)
1997

Variations for Thanatophoric Dysplasia Type 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia Type 1:

65
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650MetVAR_004161

Clinvar genetic disease variations for Thanatophoric Dysplasia Type 1:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
2FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
3FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
4FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
6FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
7FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568
8FGFR3NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met)single nucleotide variantPathogenicrs121913105GRCh37Chr 4, 1807890: 1807890
9FGFR3NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys)single nucleotide variantPathogenicrs121913485GRCh37Chr 4, 1806099: 1806099
10FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
11FGFR3NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys)single nucleotide variantPathogenicrs28933068GRCh37Chr 4, 1807371: 1807371
12FGFR3NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
13FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
14FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
15FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thanatophoric Dysplasia Type 1

Search GEO for disease gene expression data for Thanatophoric Dysplasia Type 1.

Pathways for genes affiliated with Thanatophoric Dysplasia Type 1

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Sources:
51PathCards, 54QIAGEN, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 5Cell Signaling Technology, 55R&D Systems, 52PharmGKB, 58SinoBiological, 61Thomson Reuters, 62Tocris Bioscience
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Pathways related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, FGFR2
2
Show member pathways
9.1FGFR2, FGFR3
3
Show member pathways
9.1FGFR3, FGFR2
49.1FGFR3, FGFR2
5
Show member pathways
9.1FGFR2, FGFR3
6
Show member pathways
9.1FGFR3, FGFR2
7
Show member pathways
9.1FGFR2, FGFR3
89.1FGFR3, FGFR2
9
Show member pathways
9.1FGFR2, FGFR3
10
Show member pathways
9.1FGFR2, FGFR3
11
Show member pathways
9.1FGFR2, FGFR3
12
Show member pathways
9.1FGFR3, FGFR2
13
Show member pathways
9.1FGFR3, FGFR2
14
Show member pathways
9.1FGFR3, FGFR2
15
Show member pathways
9.1FGFR2, FGFR3
16
Show member pathways
9.1FGFR3, FGFR2
17
Show member pathways
9.1FGFR3, FGFR2
18
Show member pathways
9.1FGFR2, FGFR3
19
Show member pathways
9.1FGFR3, FGFR2
20
Show member pathways
MAPK signaling pathway39
9.1FGFR2, FGFR3
219.1FGFR3, FGFR2
229.1FGFR2, FGFR3
239.1FGFR3, FGFR2
249.1FGFR3, FGFR2
25
Show member pathways
9.1FGFR2, FGFR3
26
Show member pathways
9.1FGFR3, FGFR2
27
Show member pathways
9.1FGFR3, FGFR2
28
Show member pathways
9.1FGFR3, FGFR2
29
Show member pathways
9.1FGFR2, FGFR3
30
Show member pathways
9.1FGFR3, FGFR2
31
Show member pathways
9.1FGFR3, FGFR2
32
Show member pathways
9.1FGFR2, FGFR3
33
Show member pathways
9.1FGFR3, FGFR2
34
Show member pathways
9.1FGFR3, FGFR2
35
Show member pathways
9.1FGFR2, FGFR3
36
Show member pathways
9.1FGFR3, FGFR2
37
Show member pathways
Signaling Pathways in Glioblastoma39
9.1FGFR2, FGFR3
389.1FGFR3, FGFR2
399.1FGFR3, FGFR2

Compounds for genes affiliated with Thanatophoric Dysplasia Type 1

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Sources:
62Tocris Bioscience, 46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB
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Compounds related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1su 5402629.4FGFR3, FGFR2
2fiin 1 hydrochloride629.4FGFR3, FGFR2
3pd 161570629.4FGFR3, FGFR2
4su5402469.4FGFR3, FGFR2
5pd 17307446 6210.4FGFR2, FGFR3
6palifermin46 1210.4FGFR3, FGFR2
7ponatinib52 1210.4FGFR3, FGFR2
8thalidomide46 52 62 1212.3FGFR3, FGFR2
9sulfate46 2510.3FGFR2, FGFR3
10guanine46 25 1211.3FGFR3, FGFR2
11phenylalanine469.2FGFR3, FGFR2
12phosphotyrosine469.2FGFR3, FGFR2
13doxorubicin46 52 1211.1FGFR2, FGFR3
14oligonucleotide469.1FGFR3, FGFR2
15paraffin469.0FGFR3, FGFR2
16lysine468.8FGFR3, FGFR2

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 1

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17Gene Ontology
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Cellular components related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1FGFR3, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.8FGFR3, FGFR2

Biological processes related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.5FGFR3, FGFR2
2lens fiber cell developmentGO:0703079.5FGFR3, FGFR2
3negative regulation of mitosisGO:0458399.5FGFR2, FGFR3
4bone morphogenesisGO:0603499.4FGFR3, FGFR2
5negative regulation of epithelial cell proliferationGO:0506809.4FGFR3, FGFR2
6positive regulation of canonical Wnt signaling pathwayGO:0902639.4FGFR2, FGFR3
7positive regulation of MAPK cascadeGO:0434109.4FGFR3, FGFR2
8peptidyl-tyrosine phosphorylationGO:0181089.4FGFR3, FGFR2
9positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR2, FGFR3
10phosphatidylinositol-mediated signalingGO:0480159.4FGFR3, FGFR2
11insulin receptor signaling pathwayGO:0082869.4FGFR2, FGFR3
12protein autophosphorylationGO:0467779.3FGFR3, FGFR2
13fibroblast growth factor receptor signaling pathwayGO:0085439.3FGFR3, FGFR2
14Fc-epsilon receptor signaling pathwayGO:0380959.3FGFR2, FGFR3
15epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR3, FGFR2
16cell-cell signalingGO:0072679.2FGFR2, FGFR3
17neurotrophin TRK receptor signaling pathwayGO:0480119.1FGFR3, FGFR2
18innate immune responseGO:0450879.1FGFR3, FGFR2
19positive regulation of cell proliferationGO:0082849.0FGFR3, FGFR2
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR2

Molecular functions related to Thanatophoric Dysplasia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.1FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.0FGFR3, FGFR2
3fibroblast growth factor bindingGO:0171348.8FGFR3, FGFR2

Products for genes affiliated with Thanatophoric Dysplasia Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet