KEGG   DISEASE: Trichorhinophalangeal syndromeHelp
Entry
H00977                      Disease                                

Name
Trichorhinophalangeal syndrome
Description
Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III (TRPS3). They are characterized by sparse hair, bulbous pear-shaped nose, long and flat philtrum, thin upper lip, and protruding ears. Skeletal abnormalities that are frequently observed include epiphyses of the middle phalanges with shortened metacarpals, hip malformations, and short stature. The causative gene is TRPS1 that was shown to be a regulator of the Wnt signaling pathway in mouse.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00977  Trichorhinophalangeal syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00977  Trichorhinophalangeal syndrome
BRITE hierarchy
Gene
(TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040]
(TRPS2) EXT1 [HSA:2131] [KO:K02366]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.1
MeSH: C536820 D015826 C566033
OMIM: 190350 150230 190351
Reference
PMID:1925732
  Authors
Burgess RC
  Title
Trichorhinophalangeal syndrome.
  Journal
South Med J 84:1268-70 (1991)
Reference
PMID:8034799
  Authors
Carrington PR, Chen H, Altick JA
  Title
Trichorhinophalangeal syndrome, type I.
  Journal
J Am Acad Dermatol 31:331-6 (1994)
DOI:10.1016/S0190-9622(94)70166-0
Reference
PMID:8993967
  Authors
Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G
  Title
Trichorhinophalangeal syndrome type III.
  Journal
Dermatology 193:349-52 (1996)
DOI:10.1159/000246290
Reference
  Authors
Chen LH, Ning CC, Chao SC
  Title
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.
  Journal
Br J Dermatol 163:416-9 (2010)
DOI:10.1111/j.1365-2133.2010.09802.x
Reference
  Authors
Tariq M, Ahmad S, Ahmad W
  Title
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
  Journal
Br J Dermatol 159:476-8 (2008)
DOI:10.1111/j.1365-2133.2008.08658.x
Reference
  Authors
Fantauzzo KA, Christiano AM
  Title
Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.
  Journal
Development 139:203-14 (2012)
DOI:10.1242/dev.069971
Reference
  Authors
Shanske AL, Patel A, Saukam S, Levy B, Ludecke HJ
  Title
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
  Journal
Am J Med Genet A 146A:3211-6 (2008)
DOI:10.1002/ajmg.a.32615

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