Details of Disease | DrugMAP

General Information of Disease (ID: DISS94K4)

Disease Name	Trichorhinophalangeal syndrome, type III
Synonyms	Sugio-Kajii syndrome; TRPS 3; Trichorhinophalangeal Syndrome Type III; trichorhinophalangeal syndrome, type III; trichorhinophalangeal syndrome, type 3; TRPS3; trichorhinophalangeal syndrome type 3
Definition	A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.
Disease Hierarchy	DISO1AEK: Trichorhinophalangeal syndrome DIS3HIWD: Autosomal dominant disease DISS94K4: Trichorhinophalangeal syndrome, type III
Disease Identifiers	MONDO ID MONDO_0008597 MESH ID C566033 UMLS CUI C1860823 OMIM ID 190351 MedGen ID 349899

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRSS1	TT2WR1T	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPS1	OT7XPPEL	Strong	Autosomal dominant	[2]
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References

1	Sporadic case of trichorhinophalangeal syndrome type III in a European patient.Am J Med Genet. 1999 Aug 27;85(5):495-7.
2	Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7.