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Trichorhinophalangeal syndrome type I or III

MedGen UID:
1684833
Concept ID:
C5231006
Disease or Syndrome
Synonym: Trichorhinophalangeal syndrome type 1 and 3
SNOMED CT: Trichorhinophalangeal syndrome type 1 and 3 (818959006); Trichorhinophalangeal syndrome type I and III (818959006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Orphanet: ORPHA77258

Definition

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Trichorhinophalangeal syndrome type I or III

Professional guidelines

PubMed

Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE
J Clin Endocrinol Metab 2023 Sep 18;108(10):2447-2469. doi: 10.1210/clinem/dgad463. PMID: 37580314Free PMC Article
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Corp N, Mansell G, Stynes S, Wynne-Jones G, Morsø L, Hill JC, van der Windt DA
Eur J Pain 2021 Feb;25(2):275-295. Epub 2020 Nov 12 doi: 10.1002/ejp.1679. PMID: 33064878Free PMC Article

Recent clinical studies

Etiology

Li Y, Juergens RA, Finley C, Swaminath A
J Thorac Oncol 2023 Nov;18(11):1478-1491. Epub 2023 Aug 11 doi: 10.1016/j.jtho.2023.08.011. PMID: 37574133
Maret W
Met Ions Life Sci 2019 Jan 14;19 doi: 10.1515/9783110527872-015. PMID: 30855110
Woon SC, Thiruvenkatachari B
Am J Orthod Dentofacial Orthop 2017 Jan;151(1):28-52. doi: 10.1016/j.ajodo.2016.07.017. PMID: 28024779
Bussières AE, Stewart G, Al-Zoubi F, Decina P, Descarreaux M, Hayden J, Hendrickson B, Hincapié C, Pagé I, Passmore S, Srbely J, Stupar M, Weisberg J, Ornelas J
J Manipulative Physiol Ther 2016 Oct;39(8):523-564.e27. doi: 10.1016/j.jmpt.2016.08.007. PMID: 27836071
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546

Diagnosis

Miyake M, Katayama K, Ehara T, Sado Y, Nawa S, Murata T, Mizutani Y, Joh K, Ito M, Dohi K
Intern Med 2021 Mar 15;60(6):911-915. Epub 2020 Oct 14 doi: 10.2169/internalmedicine.6090-20. PMID: 33055489Free PMC Article
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
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
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
Ngan P, Moon W
Am J Orthod Dentofacial Orthop 2015 Jul;148(1):22-36. doi: 10.1016/j.ajodo.2015.04.012. PMID: 26124025

Therapy

Weatherald J, Boucly A, Peters A, Montani D, Prasad K, Psotka MA, Zannad F, Gomberg-Maitland M, McLaughlin V, Simonneau G, Humbert M; Evolving Landscape of Pulmonary Arterial Hypertension and Redesigning Pulmonary Arterial Hypertension Clinical Trials Task Force of the 18th Global CardioVascular Clinical Trialists Forum
Lancet 2022 Nov 26;400(10366):1884-1898. doi: 10.1016/S0140-6736(22)01601-4. PMID: 36436527
Harrer S, Shah P, Antony B, Hu J
Trends Pharmacol Sci 2019 Aug;40(8):577-591. Epub 2019 Jul 17 doi: 10.1016/j.tips.2019.05.005. PMID: 31326235
Umscheid CA, Margolis DJ, Grossman CE
Postgrad Med 2011 Sep;123(5):194-204. doi: 10.3810/pgm.2011.09.2475. PMID: 21904102Free PMC Article
Rubinstein LV
Hematol Oncol Clin North Am 2000 Aug;14(4):849-76, ix. doi: 10.1016/s0889-8588(05)70315-4. PMID: 10949777
Kane J, Honigfeld G, Singer J, Meltzer H
Arch Gen Psychiatry 1988 Sep;45(9):789-96. doi: 10.1001/archpsyc.1988.01800330013001. PMID: 3046553

Prognosis

Schneider CV, Schneider KM, Teumer A, Rudolph KL, Hartmann D, Rader DJ, Strnad P
JAMA Intern Med 2022 Mar 1;182(3):291-300. doi: 10.1001/jamainternmed.2021.7804. PMID: 35040871Free PMC Article
GBD 2019 Adolescent Young Adult Cancer Collaborators
Lancet Oncol 2022 Jan;23(1):27-52. Epub 2021 Dec 3 doi: 10.1016/S1470-2045(21)00581-7. PMID: 34871551Free PMC Article
Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G
Eur J Heart Fail 2017 Dec;19(12):1574-1585. Epub 2017 Apr 6 doi: 10.1002/ejhf.813. PMID: 28386917
Zaorsky NG, Churilla TM, Egleston BL, Fisher SG, Ridge JA, Horwitz EM, Meyer JE
Ann Oncol 2017 Feb 1;28(2):400-407. doi: 10.1093/annonc/mdw604. PMID: 27831506Free PMC Article
Levine ME
J Gerontol A Biol Sci Med Sci 2013 Jun;68(6):667-74. Epub 2012 Dec 3 doi: 10.1093/gerona/gls233. PMID: 23213031Free PMC Article

Clinical prediction guides

Naredo E, D'Agostino MA, Terslev L, Pineda C, Miguel MI, Blasi J, Bruyn GA, Kortekaas MC, Mandl P, Nestorova R, Szkudlarek M, Todorov P, Vlad V, Wong P, Bakewell C, Filippucci E, Zabotti A, Micu M, Vreju F, Mortada M, Mendonça JA, Guillen-Astete CA, Olivas-Vergara O, Iagnocco A, Hanova P, Tinazzi I, Balint PV, Aydin SZ, Kane D, Keen H, Kaeley GS, Möller I
Ann Rheum Dis 2024 Jul 15;83(8):1060-1071. doi: 10.1136/ard-2023-225278. PMID: 38531611
Anisimova N, Arbisser L, Tzamalis A, Petrovski BÉ, Shilova N, Petrovski G, Anisimov S, Malyugin B
Semin Ophthalmol 2022 Jan 2;37(1):105-110. Epub 2021 May 29 doi: 10.1080/08820538.2021.1926517. PMID: 34057013
Bradley A, Lawrence C, Ferguson E
Proc Biol Sci 2018 Mar 28;285(1875) doi: 10.1098/rspb.2018.0116. PMID: 29593114Free PMC Article
Strijkers RH, Arnoldussen CW, Wittens CH
Phlebology 2015 Mar;30(1 Suppl):14-9. doi: 10.1177/0268355515569133. PMID: 25729063
Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY
Arch Ophthalmol 1993 Jun;111(6):831-6. doi: 10.1001/archopht.1993.01090060119035. PMID: 8512486

Recent systematic reviews

Oka P, Parr H, Barberio B, Black CJ, Savarino EV, Ford AC
Lancet Gastroenterol Hepatol 2020 Oct;5(10):908-917. Epub 2020 Jul 20 doi: 10.1016/S2468-1253(20)30217-X. PMID: 32702295
Veldema J, Jansen P
Clin Rehabil 2020 Sep;34(9):1173-1197. Epub 2020 Jun 11 doi: 10.1177/0269215520932964. PMID: 32527148
Alhammadi MS, Halboub E, Fayed MS, Labib A, El-Saaidi C
Dental Press J Orthod 2018 Nov-Dec;23(6):40.e1-40.e10. doi: 10.1590/2177-6709.23.6.40.e1-10.onl. PMID: 30672991Free PMC Article
Woon SC, Thiruvenkatachari B
Am J Orthod Dentofacial Orthop 2017 Jan;151(1):28-52. doi: 10.1016/j.ajodo.2016.07.017. PMID: 28024779
Petersen W, Rembitzki IV, Koppenburg AG, Ellermann A, Liebau C, Brüggemann GP, Best R
Arch Orthop Trauma Surg 2013 Aug;133(8):1129-41. Epub 2013 May 28 doi: 10.1007/s00402-013-1742-5. PMID: 23712708Free PMC Article

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