Details of Disease

General Information of Disease (ID: DIS2RRO1)

• Disease Name: Thanatophoric dysplasia type 2
• Synonyms: thanatophoric dysplasia with Kleeblattschaedel; thanatophoric dysplasia type II; thanatophoric dwarfism - cloverleaf skull; thanatophoric dysplasia with straight femurs and cloverleaf skull; thanatophoric dysplasia, type II; cloverleaf skull with thanatophoric dwarfism; cloverleaf skull-micromelic bone dysplasia syndrome; TD2; thanatophoric dwarfism-cloverleaf skull syndrome; type 2 thanatophoric dysplasia; thanatophoric dwarfism type 2; thanatophoric dysplasia, type 2
• Definition: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
• Disease Hierarchy:
  DIS3S10R: Thanatophoric dysplasia
  DIS2RRO1: Thanatophoric dysplasia type 2
• Disease Identifiers:
  MONDO ID: MONDO_0008547
  MESH ID: C536508
  UMLS CUI: C1300257
  OMIM ID: 187601
  MedGen ID: 226975
  Orphanet ID: 93274
  SNOMED CT ID: 389158007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Definitive	Autosomal dominant	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMAN1	OTYHKDEO	Disputed	Biomarker	[2]
FGFR3	OTSAXDIL	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Transient dimerization and interaction with ERGIC-53 occur in the fibroblast growth factor receptor 3 early secretory pathway.Int J Biochem Cell Biol. 2008;40(11):2649-59. doi: 10.1016/j.biocel.2008.05.017. Epub 2008 Jun 5.