TD2
MCID: THN002
MIFTS: 29

Thanatophoric Dysplasia Type 2 (TD2) malady

Bone, Fetal categories

Summaries for Thanatophoric Dysplasia Type 2

Sources:
47OMIM, 33MalaCards
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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 macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Thanatophoric Dysplasia Type 2 is FGFR3 (fibroblast growth factor receptor 3).

Description from OMIM:47 156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 2

Sources:
64Wikipedia, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 20GeneTests, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
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 64 43 49 47
thanatophoric dysplasia type ii 43 20 22
cloverleaf skull with thanatophoric dwarfism 64 43
td2 43 49
thanatophoric dysplasia with kleeblattschaedel 43
cloverleaf skull - micromelic bone dysplasia 49
td with straight femurs and cloverleaf skull 64
thanatophoric dwarfism - cloverleaf skull 49
thanatophoric dysplasia, type ii 47
thanatophoric dysplasia, type 2 61
thanatophoric dysplasia, type i 61
thanatophoric dwarfism type 2 49


External Ids:

ICD10 via Orphanet26 Q77.1

Related Diseases for Thanatophoric Dysplasia Type 2

Sources:
17GeneCards, 18GeneDecks
See all sources

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:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1micromelic bone dysplasia with cloverleaf skull10.6
2thanatophoric dysplasia10.4
3achondroplasia10.3
4holoprosencephaly10.3
5dwarfism10.3
6semilobar holoprosencephaly10.3
7gilles de la tourette syndrome10.3
8syndactyly10.3
9hypochondroplasia10.3
10platyspondylic lethal skeletal dysplasia torrance type10.3
11tardive dyskinesia10.3
12corpus callosum agenesis10.2
13encephalocele10.2
14thanatophoric dysplasia type 110.0

Graphical network of diseases related to Thanatophoric Dysplasia Type 2:



Diseases related to thanatophoric dysplasia type 2

Clinical Features for Thanatophoric Dysplasia Type 2

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

156830,187601

Clinical synopsis from OMIM:

156830

Symptoms:

49 (show all 36)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hypotonia
  • depressed nasal bridge
  • hearing loss/hypoacusia/deafness
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • metaphyseal anomaly
  • narrow rib cage/thorax
  • platyspondyly
  • short hand/brachydactyly
  • patent ductus arteriosus
  • short rib cage/thorax
  • flat face
  • atrial septal defect/interauricular communication
  • stillbirth/neonatal death
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • rhizomelic micromelia
  • renal/kidney anomalies
  • 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

Drugs & Therapeutics for Thanatophoric Dysplasia Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Thanatophoric Dysplasia Type 2:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type Ii20 FGFR3
2 Thanatophoric Dysplasia, Type 222

Anatomical Context for Thanatophoric Dysplasia Type 2

Animal Models for Thanatophoric Dysplasia Type 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Thanatophoric Dysplasia Type 2

Genetic Variations for Thanatophoric Dysplasia Type 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Thanatophoric Dysplasia Type 2:

63
id Symbol AA change Variation SNP ID
1FGFR3p.Lys650GluVAR_004160

Expression for genes affiliated with Thanatophoric Dysplasia Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Thanatophoric Dysplasia Type 2

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 2

Products for genes affiliated with Thanatophoric Dysplasia Type 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia Type 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet