Details of Disease

General Information of Disease (ID: DIS2221W)

• Disease Name: Trichorhinophalangeal syndrome type I
• Synonyms: TRPS 1; trichorhinophalangeal syndrome, type 1; Giedion syndrome; TRPS1; trichorhinophalangeal syndrome type 1; trichorhinophalangeal syndrome, type I; trichorhinophalangeal dysplasia type I; type I trichorhinophalangeal syndrome; trichorhinophalangeal syndrome type I; type III trichorhinophalangeal syndrome; Sugio-Kajii syndrome
• Definition: An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.
• Disease Hierarchy:
  DISO1AEK: Trichorhinophalangeal syndrome
  DIS3HIWD: Autosomal dominant disease
  DIS2221W: Trichorhinophalangeal syndrome type I
• Disease Identifiers:
  MONDO ID: MONDO_0008596
  MESH ID: C536820
  UMLS CUI: C0432233
  OMIM ID: 190350
  MedGen ID: 140929
  SNOMED CT ID: 254091006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPS1	OT7XPPEL	Definitive	Autosomal dominant	[1]

References

• [1] Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717.