TD2
MCID: THN002
MIFTS: 38

Thanatophoric Dysplasia Type 2 (TD2) malady

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

Summaries for Thanatophoric Dysplasia Type 2

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48OMIM, 34MalaCards
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MalaCards: Thanatophoric Dysplasia Type 2, also known as thanatophoric dysplasia type ii, is related to micromelic bone dysplasia with cloverleaf skull and thanatophoric dysplasia, and has symptoms including renal/kidney anomalies, rhizomelic micromelia and agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect. An important gene associated with Thanatophoric Dysplasia Type 2 is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include bone, skin and lung.

Description from OMIM:48 156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 2

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Sources:
66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
thanatophoric dysplasia type 2:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

thanatophoric dysplasia type 2 66 44 50 48
thanatophoric dysplasia type ii 44 21 23
cloverleaf skull with thanatophoric dwarfism 66 44
td2 44 50
thanatophoric dysplasia with kleeblattschaedel 44
cloverleaf skull - micromelic bone dysplasia 50
td with straight femurs and cloverleaf skull 66
thanatophoric dwarfism - cloverleaf skull 50
thanatophoric dysplasia, type ii 48
thanatophoric dysplasia, type 2 63
thanatophoric dysplasia, type i 63
thanatophoric dwarfism type 2 50


External Ids:

ICD10 via Orphanet27 Q77.1
SNOMED-CT via Orphanet60 389158007

Related Diseases for Thanatophoric Dysplasia Type 2

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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 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1micromelic bone dysplasia with cloverleaf skull10.7
2thanatophoric dysplasia10.4
3holoprosencephaly10.3
4achondroplasia10.3
5dwarfism10.3
6skeletal dysplasias10.3
7semilobar holoprosencephaly10.3
8encephalocele10.3
9encephaloceles10.3
10thanatophoric dysplasia type 110.1

Graphical network of diseases related to Thanatophoric Dysplasia Type 2:



Diseases related to thanatophoric dysplasia type 2

Symptoms for Thanatophoric Dysplasia Type 2

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

156830

Clinical features from OMIM:

156830,187601

Symptoms:

50 (show all 36)
  • renal/kidney anomalies
  • rhizomelic micromelia
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • dilated cerebral ventricles without hydrocephaly
  • stillbirth/neonatal death
  • atrial septal defect/interauricular communication
  • polyhydramnios
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • loose skin/skin relaxation/excess skin/creases
  • increased nuchal translucency
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • proptosis/exophthalmos
  • acanthosis nigricans
  • encephalocele/exencephaly
  • cloverleaf skull
  • flat face
  • short rib cage/thorax
  • hypotonia
  • hydrocephaly
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal dominant inheritance
  • kyphosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • frontal bossing/prominent forehead
  • depressed nasal bridge
  • hearing loss/hypoacusia/deafness
  • patent ductus arteriosus
  • short hand/brachydactyly
  • platyspondyly
  • narrow rib cage/thorax
  • metaphyseal anomaly
  • short stature/dwarfism/nanism
  • restricted joint mobility/joint stiffness/ankylosis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Thanatophoric Dysplasia Type 2

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

Search CenterWatch for Thanatophoric Dysplasia Type 2

Drug clinical trials:

Search ClinicalTrials for Thanatophoric Dysplasia Type 2

Search NIH Clinical Center for Thanatophoric Dysplasia Type 2

Search CenterWatch for Thanatophoric Dysplasia Type 2

Genetic Tests for Thanatophoric Dysplasia Type 2

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21GeneTests, 23GTR
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Genetic tests related to Thanatophoric Dysplasia Type 2:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type Ii21 FGFR3
2 Thanatophoric Dysplasia, Type 223

Anatomical Context for Thanatophoric Dysplasia Type 2

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34MalaCards
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MalaCards organs/tissues related to Thanatophoric Dysplasia Type 2:

34
Bone, Skin, Lung, Kidney

Animal Models for Thanatophoric Dysplasia Type 2 or affiliated genes

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Publications for Thanatophoric Dysplasia Type 2

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53PubMed
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Articles related to Thanatophoric Dysplasia Type 2:

idTitleAuthorsYear
1
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. (16752380)
2006
2
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. (12001196)
2002

Variations for Thanatophoric Dysplasia Type 2

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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 2:

65
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650GluVAR_004160

Clinvar genetic disease variations for Thanatophoric Dysplasia Type 2:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)single nucleotide variantPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889
2FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
3FGFR3NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys)single nucleotide variantPathogenicrs121913484GRCh37Chr 4, 1806092: 1806092
4FGFR3NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
5FGFR3NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
6FGFR3NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
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.2419T> C (p.Ter807Arg)single nucleotide variantPathogenicrs121913101GRCh37Chr 4, 1808987: 1808987
12FGFR3NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu)single nucleotide variantPathogenicrs397515514GRCh37Chr 4, 1808988: 1808988
13FGFR3NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989
14FGFR3NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp)single nucleotide variantPathogenicrs121913103GRCh37Chr 4, 1808989: 1808989

Expression for genes affiliated with Thanatophoric Dysplasia Type 2

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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 2

Search GEO for disease gene expression data for Thanatophoric Dysplasia Type 2.

Pathways for genes affiliated with Thanatophoric Dysplasia Type 2

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Compounds for genes affiliated with Thanatophoric Dysplasia Type 2

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GO Terms for genes affiliated with Thanatophoric Dysplasia Type 2

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Products for genes affiliated with Thanatophoric Dysplasia Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia Type 2

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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