TD2
MCID: THN002
MIFTS: 39

Thanatophoric Dysplasia Type 2 (TD2) malady

Bone diseases, Fetal diseases categories

Summaries for Thanatophoric Dysplasia Type 2

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 polyhydramnios, increased nuchal translucency and seizures/epilepsy/absences/spasms/status epilepticus. 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:46 156830,187601

Aliases & Classifications for Thanatophoric Dysplasia Type 2

About this section
Sources:
63Wikipedia, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 42 48 46
thanatophoric dysplasia type ii 42 20 22
cloverleaf skull with thanatophoric dwarfism 63 42
td2 42 48
thanatophoric dysplasia with kleeblattschaedel 42
cloverleaf skull - micromelic bone dysplasia 48
td with straight femurs and cloverleaf skull 63
thanatophoric dwarfism - cloverleaf skull 48
thanatophoric dysplasia, type ii 46
thanatophoric dysplasia, type 2 60
thanatophoric dysplasia, type i 60
thanatophoric dwarfism type 2 48


External Ids:

ICD10 via Orphanet26 Q77.1
SNOMED-CT via Orphanet57 389158007

Related Diseases for Thanatophoric Dysplasia Type 2

About this section
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 11)
idRelated DiseaseScoreTop Affiliating Genes
1micromelic bone dysplasia with cloverleaf skull10.6
2thanatophoric dysplasia10.4
3achondroplasia10.3
4holoprosencephaly10.3
5dwarfism10.3
6gilles de la tourette syndrome10.3
7syndactyly10.3
8hypochondroplasia10.3
9platyspondylic lethal skeletal dysplasia torrance type10.3
10tardive dyskinesia10.3
11thanatophoric 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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

156830,187601

Clinical synopsis from OMIM:

156830

Symptoms:

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

Drugs & Therapeutics for Thanatophoric Dysplasia Type 2

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Thanatophoric Dysplasia Type 2:

32
Bone, Skin, Lung, Kidney

Animal Models for Thanatophoric Dysplasia Type 2 or affiliated genes

About this section

Publications for Thanatophoric Dysplasia Type 2

About this section
Sources:
50PubMed
See all sources

Articles related to Thanatophoric Dysplasia Type 2:

idTitleAuthorsYear
1
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. (18485666)
2008
2
Thanatophoric dysplasia type 2 with encephalocele during the second trimester. (16752380)
2006
3
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. (12001196)
2002
4
Thanatophoric dysplasia of the straight-bone type (type 2). (1345514)
1992

Genetic Variations for Thanatophoric Dysplasia Type 2

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Thanatophoric Dysplasia Type 2:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650GluVAR_004160

Expression for genes affiliated with Thanatophoric Dysplasia Type 2

About this section
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

About this section

Compounds for genes affiliated with Thanatophoric Dysplasia Type 2

About this section

GO Terms for genes affiliated with Thanatophoric Dysplasia Type 2

About this section

Products for genes affiliated with Thanatophoric Dysplasia Type 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thanatophoric Dysplasia Type 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet