Details of Disease

General Information of Disease (ID: DISO1AEK)

• Disease Name: Trichorhinophalangeal syndrome
• Synonyms: TRPS
• Disease Hierarchy:
  DISMZUIT: Acromelic dysplasia
  DISLRS4M: Ectodermal dysplasia
  DISO1AEK: Trichorhinophalangeal syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017951
  UMLS CUI: C0265255
  MedGen ID: 539179
  Orphanet ID: 324764
  SNOMED CT ID: 18077009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPS1	OT7XPPEL	moderate	Altered Expression	[1]
EXT1	OTRPALJK	Strong	Genetic Variation	[2]
QRSL1	OTJDU2UG	Strong	Genetic Variation	[3]
SACS	OTZGXQ8A	Strong	Genetic Variation	[4]

References

• [1] Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells.Mol Genet Metab. 2019 Apr;126(4):504-512. doi: 10.1016/j.ymgme.2019.01.014. Epub 2019 Jan 23.
• [2] Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19.
• [3] miR-221/222 targeting of trichorhinophalangeal 1 (TRPS1) promotes epithelial-to-mesenchymal transition in breast cancer.Sci Signal. 2011 Aug 9;4(186):pt5. doi: 10.1126/scisignal.2002258.
• [4] Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2.