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Peripheral pulmonary vessel aplasia

MedGen UID:
376462
Concept ID:
C1848877
Finding
HPO: HP:0005316

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeripheral pulmonary vessel aplasia

Conditions with this feature

Tetraamelia syndrome 1
MedGen UID:
860705
Concept ID:
C4012268
Disease or Syndrome
Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndrome Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.

Professional guidelines

PubMed

Ruaro B, Nallino MG, Casabella A, Salton F, Confalonieri P, De Tanti A, Bruni C
Microcirculation 2020 Nov;27(8):e12647. Epub 2020 Jul 26 doi: 10.1111/micc.12647. PMID: 32603500
Jain R, Bansal D, Marwaha RK
Indian J Pediatr 2013 Feb;80(2):144-8. Epub 2012 Nov 24 doi: 10.1007/s12098-012-0917-3. PMID: 23180411
Trow TK, Taichman DB
Respir Med 2009 Jul;103(7):951-62. Epub 2009 Mar 21 doi: 10.1016/j.rmed.2009.02.016. PMID: 19304472

Recent clinical studies

Etiology

Al-Khaldi A, Alsahari A, Alotay A, Momenah T, Alfonso JJ
Ann Thorac Surg 2022 May;113(5):1563-1568. Epub 2021 Apr 1 doi: 10.1016/j.athoracsur.2021.03.059. PMID: 33811885
Barnes RP, Lacson JC, Bahrami H
Curr Atheroscler Rep 2017 May;19(5):20. doi: 10.1007/s11883-017-0652-3. PMID: 28315199Free PMC Article
Thway K, Fisher C
Ann Diagn Pathol 2015 Oct;19(5):359-68. Epub 2015 Jun 9 doi: 10.1016/j.anndiagpath.2015.06.003. PMID: 26144278
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Dahl OE
Thromb Haemost 1999 Aug;82(2):902-6. PMID: 10605801

Diagnosis

Cuthbertson I, Morrell NW, Caruso P
Circ Res 2023 Jan 6;132(1):109-126. Epub 2023 Jan 5 doi: 10.1161/CIRCRESAHA.122.321554. PMID: 36603064
Jolobe O
Postgrad Med J 2022 Dec;98(1166):958-966. Epub 2021 May 18 doi: 10.1136/postgradmedj-2020-139691. PMID: 34006630
Ruaro B, Nallino MG, Casabella A, Salton F, Confalonieri P, De Tanti A, Bruni C
Microcirculation 2020 Nov;27(8):e12647. Epub 2020 Jul 26 doi: 10.1111/micc.12647. PMID: 32603500
Thway K, Fisher C
Ann Diagn Pathol 2015 Oct;19(5):359-68. Epub 2015 Jun 9 doi: 10.1016/j.anndiagpath.2015.06.003. PMID: 26144278
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Therapy

Xie J, Jia E, Wang S, Yu Y, Li Z, Zhang J, Li J
Clin Rheumatol 2022 Oct;41(10):3227-3235. Epub 2022 Jun 11 doi: 10.1007/s10067-022-06163-6. PMID: 35690669Free PMC Article
Garg RK
Neurol India 2020 May-Jun;68(3):560-572. doi: 10.4103/0028-3886.289000. PMID: 32643664
Emmi G, Bettiol A, Silvestri E, Di Scala G, Becatti M, Fiorillo C, Prisco D
Intern Emerg Med 2019 Aug;14(5):645-652. Epub 2018 Nov 29 doi: 10.1007/s11739-018-1991-y. PMID: 30499073
Mainwaring RD, Hanley FL
Semin Thorac Cardiovasc Surg 2016 Summer;28(2):418-424. Epub 2016 Jul 18 doi: 10.1053/j.semtcvs.2016.07.003. PMID: 28043454
Trow TK, Taichman DB
Respir Med 2009 Jul;103(7):951-62. Epub 2009 Mar 21 doi: 10.1016/j.rmed.2009.02.016. PMID: 19304472

Prognosis

Cuthbertson I, Morrell NW, Caruso P
Circ Res 2023 Jan 6;132(1):109-126. Epub 2023 Jan 5 doi: 10.1161/CIRCRESAHA.122.321554. PMID: 36603064
Ruaro B, Nallino MG, Casabella A, Salton F, Confalonieri P, De Tanti A, Bruni C
Microcirculation 2020 Nov;27(8):e12647. Epub 2020 Jul 26 doi: 10.1111/micc.12647. PMID: 32603500
Jimborean G, Ianoşi ES, Nemeş RM, Toma TP
Pneumologia 2015 Jul-Sep;64(3):12-8. PMID: 26738366
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Kreutzer J, Landzberg MJ, Preminger TJ, Mandell VS, Treves ST, Reid LM, Lock JE
Circulation 1996 Apr 1;93(7):1417-23. doi: 10.1161/01.cir.93.7.1417. PMID: 8641032

Clinical prediction guides

Cuthbertson I, Morrell NW, Caruso P
Circ Res 2023 Jan 6;132(1):109-126. Epub 2023 Jan 5 doi: 10.1161/CIRCRESAHA.122.321554. PMID: 36603064
Egbe AC, Miranda WR, Anderson JH, Borlaug BA
J Am Coll Cardiol 2020 Dec 8;76(23):2755-2763. doi: 10.1016/j.jacc.2020.10.003. PMID: 33272370Free PMC Article
Garg RK
Neurol India 2020 May-Jun;68(3):560-572. doi: 10.4103/0028-3886.289000. PMID: 32643664
Jimborean G, Ianoşi ES, Nemeş RM, Toma TP
Pneumologia 2015 Jul-Sep;64(3):12-8. PMID: 26738366
Wirth A
Biochim Biophys Acta 2010 Dec;1802(12):1276-84. Epub 2010 May 9 doi: 10.1016/j.bbadis.2010.05.002. PMID: 20460153

Recent systematic reviews

van Laar M, van Amsterdam WAC, van Lindert ASR, de Jong PA, Verhoeff JJC
Radiother Oncol 2020 Oct;151:152-175. Epub 2020 Jul 22 doi: 10.1016/j.radonc.2020.07.030. PMID: 32710990

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