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Trichorhinophalangeal syndrome

MedGen UID:
539179
•Concept ID:
C0265255
•
Disease or Syndrome
Synonyms: trichorhinophalangeal syndrome; TRPS
SNOMED CT: Trichorhinophalangeal syndrome (18077009)
 
Monarch Initiative: MONDO:0017951
OMIM® Phenotypic series: PS190350
Orphanet: ORPHA324764

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Trichorhinophalangeal syndrome

Professional guidelines

PubMed

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
Ellison E, Grampp SJ, Ellison S, Seeley A, Seeley M
J Am Acad Orthop Surg Glob Res Rev 2024 Aug 1;8(8) Epub 2024 Aug 19 doi: 10.5435/JAAOSGlobal-D-24-00010. PMID: 39162698Free PMC Article

Recent clinical studies

Etiology

TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
Scott TG, Sathyan KM, Gioeli D, Guertin MJ
PLoS Genet 2024 Feb;20(2):e1011159. Epub 2024 Feb 20 doi: 10.1371/journal.pgen.1011159. PMID: 38377146Free PMC Article
A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.
Sawano K, Nyuzuki H, Nagasaki K, Suzuki H, Suda K, Miyasaka D, Imai N, Saitoh A
J Orthop Sci 2023 Nov;28(6):1501-1504. Epub 2021 Sep 6 doi: 10.1016/j.jos.2021.07.021. PMID: 34503898
Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8.
Jilling T, Ambalavanan N, Cotten CM, Martin CA, Maheshwari A, Schibler K, Levy J, Page GP
Pediatr Res 2018 May;83(5):943-953. Epub 2018 May 16 doi: 10.1038/pr.2018.33. PMID: 29538362Free PMC Article
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
Shibata A, Tanahashi K, Sugiura K, Akiyama M
Acta Derm Venereol 2015 May;95(5):620-1. doi: 10.2340/00015555-1948. PMID: 25136899
Hip pathology in the trichorhinophalangeal syndrome.
Dunbar JD, Sussman MD, Aiona MD
J Pediatr Orthop 1995 May-Jun;15(3):381-5. doi: 10.1097/01241398-199505000-00023. PMID: 7790499

Diagnosis

TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer.
Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748
Trichorhinophalangeal syndrome.
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F, Avendaño A, Callea M
Arch Argent Pediatr 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. PMID: 30457727
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Trichorhinophalangeal syndrome.
Vaccaro M, Guarneri C, Blandino A
J Am Acad Dermatol 2005 Nov;53(5):858-60. doi: 10.1016/j.jaad.2005.06.003. PMID: 16243138

Therapy

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.
Köhler CU, Schork K, Turewicz M, Eisenacher M, Roghmann F, Noldus J, Marcus K, Brüning T, Käfferlein HU
Int J Mol Sci 2024 Jan 6;25(2) doi: 10.3390/ijms25020738. PMID: 38255812Free PMC Article
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S
Eur J Med Genet 2021 Apr;64(4):104185. Epub 2021 Mar 2 doi: 10.1016/j.ejmg.2021.104185. PMID: 33662637
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.
Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N
J Hum Genet 2020 Aug;65(8):667-674. Epub 2020 Apr 15 doi: 10.1038/s10038-020-0754-6. PMID: 32296131Free PMC Article
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I.
Itin PH, Eich G, Fistarol SK
Dermatology 2005;211(2):162-4. doi: 10.1159/000086450. PMID: 16088167

Prognosis

TRPS1 is a Highly Sensitive Marker for Breast Cancer: A Tissue Microarray Study Evaluating More Than 19,000 Tumors From 152 Different Tumor Entities.
Lennartz M, Löhr N, Höflmayer D, Dwertmann Rico S, von Bargen C, Kind S, Reiswich V, Viehweger F, Lutz F, Bertram V, Fraune C, Gorbokon N, Weidemann S, Blessin NC, Hube-Magg C, Menz A, Schlichter R, Krech T, Hinsch A, Burandt E, Sauter G, Simon R, Kluth M, Marx AH, Lebok P, Dum D, Minner S, Jacobsen F, Clauditz TS, Bernreuther C, Steurer S
Am J Surg Pathol 2024 Jun 1;48(6):637-651. Epub 2024 Apr 18 doi: 10.1097/PAS.0000000000002213. PMID: 38647255Free PMC Article
TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
Scott TG, Sathyan KM, Gioeli D, Guertin MJ
PLoS Genet 2024 Feb;20(2):e1011159. Epub 2024 Feb 20 doi: 10.1371/journal.pgen.1011159. PMID: 38377146Free PMC Article
TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer.
Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
Shibata A, Tanahashi K, Sugiura K, Akiyama M
Acta Derm Venereol 2015 May;95(5):620-1. doi: 10.2340/00015555-1948. PMID: 25136899
Prognostic value of the trichorhinophalangeal syndrome-1 (TRPS-1), a GATA family transcription factor, in early-stage breast cancer.
Chen JQ, Bao Y, Lee J, Murray JL, Litton JK, Xiao L, Zhou R, Wu Y, Shen XY, Zhang H, Sahin AA, Katz RL, Bondy ML, Berinstein NL, Hortobagyi GN, Radvanyi LG
Ann Oncol 2013 Oct;24(10):2534-2542. Epub 2013 May 31 doi: 10.1093/annonc/mdt190. PMID: 23729783Free PMC Article

Clinical prediction guides

TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3.
Lazcano R, Ingram DR, Panse G, Lazar AJ, Wang WL, Cloutier JM
Hum Pathol 2024 Sep;151:105632. Epub 2024 Jul 29 doi: 10.1016/j.humpath.2024.105632. PMID: 39084565
Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Saeki N, Inui-Yamamoto C, Ikeda Y, Kanai R, Hata K, Itoh S, Inubushi T, Akiyama S, Ohba S, Abe M
Hum Mol Genet 2024 Sep 3;33(18):1618-1629. doi: 10.1093/hmg/ddae102. PMID: 38899779
TRPS1 is a Highly Sensitive Marker for Breast Cancer: A Tissue Microarray Study Evaluating More Than 19,000 Tumors From 152 Different Tumor Entities.
Lennartz M, Löhr N, Höflmayer D, Dwertmann Rico S, von Bargen C, Kind S, Reiswich V, Viehweger F, Lutz F, Bertram V, Fraune C, Gorbokon N, Weidemann S, Blessin NC, Hube-Magg C, Menz A, Schlichter R, Krech T, Hinsch A, Burandt E, Sauter G, Simon R, Kluth M, Marx AH, Lebok P, Dum D, Minner S, Jacobsen F, Clauditz TS, Bernreuther C, Steurer S
Am J Surg Pathol 2024 Jun 1;48(6):637-651. Epub 2024 Apr 18 doi: 10.1097/PAS.0000000000002213. PMID: 38647255Free PMC Article
Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma.
Wang M, Stendahl K, Cai G, Adeniran A, Harigopal M, Gilani SM
Am J Clin Pathol 2022 Sep 2;158(3):416-425. doi: 10.1093/ajcp/aqac066. PMID: 35760555
TRPS1: a highly sensitive and specific marker for breast carcinoma, especially for triple-negative breast cancer.
Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748

Recent systematic reviews

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
Ellison E, Grampp SJ, Ellison S, Seeley A, Seeley M
J Am Acad Orthop Surg Glob Res Rev 2024 Aug 1;8(8) Epub 2024 Aug 19 doi: 10.5435/JAAOSGlobal-D-24-00010. PMID: 39162698Free PMC Article

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