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Abnormality of the respiratory system

MedGen UID:
866322
Concept ID:
C4018871
Anatomical Abnormality
Synonym: Respiratory abnormalities
 
HPO: HP:0002086

Definition

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the respiratory system

Conditions with this feature

Idiopathic pulmonary hemosiderosis
MedGen UID:
9403
Concept ID:
C0020807
Disease or Syndrome
Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
Pulmonary hypertension due to chronic exposure to high altitude
MedGen UID:
83314
Concept ID:
C0340552
Disease or Syndrome
Blue rubber bleb nevus
MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Congenital fascial dystrophy
MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
Microcephaly-cardiac defect-lung malsegmentation syndrome
MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Thymic-renal-anal-lung dysplasia
MedGen UID:
336425
Concept ID:
C1848812
Congenital Abnormality
This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.
Holoprosencephaly-postaxial polydactyly syndrome
MedGen UID:
340382
Concept ID:
C1849649
Disease or Syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome

Professional guidelines

PubMed

McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Carod-Artal FJ
Rev Neurol 2021 Jun 1;72(11):384-396. doi: 10.33588/rn.7211.2021230. PMID: 34042167
Conde-Agudelo A, Romero R, Jung EJ, Garcia Sánchez ÁJ
Am J Obstet Gynecol 2020 Dec;223(6):848-869. Epub 2020 Sep 29 doi: 10.1016/j.ajog.2020.09.044. PMID: 33007269Free PMC Article

Recent clinical studies

Etiology

Pederiva F, Rothenberg SS, Hall N, Ijsselstijn H, Wong KKY, von der Thüsen J, Ciet P, Achiron R, Pio d'Adamo A, Schnater JM
Nat Rev Dis Primers 2023 Nov 2;9(1):60. doi: 10.1038/s41572-023-00470-1. PMID: 37919294
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084

Diagnosis

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Hegde BN, Tsao K, Hirose S
Clin Perinatol 2022 Dec;49(4):907-926. doi: 10.1016/j.clp.2022.08.003. PMID: 36328607
Alvo A, Villarroel G, Sedano C
Eur Arch Otorhinolaryngol 2021 Oct;278(10):3605-3611. Epub 2021 Jan 3 doi: 10.1007/s00405-020-06546-y. PMID: 33388986
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656

Therapy

Danzer E, Rintoul NE, van Meurs KP, Deprest J
Semin Fetal Neonatal Med 2022 Dec;27(6):101406. Epub 2022 Nov 17 doi: 10.1016/j.siny.2022.101406. PMID: 36456433
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Mandell E, Kinsella JP, Abman SH
Pediatr Pulmonol 2021 Mar;56(3):661-669. doi: 10.1002/ppul.25073. PMID: 32930508
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656
Malerba M, Ragnoli B
Expert Opin Drug Metab Toxicol 2008 Aug;4(8):1119-29. doi: 10.1517/17425255.4.8.1119. PMID: 18680446

Prognosis

Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Nogee LM
Curr Opin Pediatr 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751. PMID: 31090574Free PMC Article
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article

Clinical prediction guides

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Hall NJ, Stanton MP
Semin Pediatr Surg 2017 Oct;26(5):311-316. Epub 2017 Sep 9 doi: 10.1053/j.sempedsurg.2017.09.001. PMID: 29110827
Triebwasser JE, Treadwell MC
Semin Fetal Neonatal Med 2017 Aug;22(4):245-249. Epub 2017 Mar 18 doi: 10.1016/j.siny.2017.03.001. PMID: 28325581
Hew M, Tay TR
Eur Respir Rev 2016 Sep;25(141):230-46. doi: 10.1183/16000617.0047-2016. PMID: 27581823Free PMC Article
de Blécourt RA, Roddi R, Berg JP, Bloem JJ
Ann Plast Surg 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. PMID: 8988777

Recent systematic reviews

Ivanova O, Hoffmann VS, Lange C, Hoelscher M, Rachow A
Eur Respir Rev 2023 Jun 30;32(168) Epub 2023 Apr 19 doi: 10.1183/16000617.0221-2022. PMID: 37076175Free PMC Article
Pellegrino R, Chiappini E, Licari A, Galli L, Marseglia GL
Eur J Pediatr 2022 Dec;181(12):3995-4009. Epub 2022 Sep 15 doi: 10.1007/s00431-022-04600-x. PMID: 36107254Free PMC Article
Groff D, Sun A, Ssentongo AE, Ba DM, Parsons N, Poudel GR, Lekoubou A, Oh JS, Ericson JE, Ssentongo P, Chinchilli VM
JAMA Netw Open 2021 Oct 1;4(10):e2128568. doi: 10.1001/jamanetworkopen.2021.28568. PMID: 34643720Free PMC Article
Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
Shah SN, Bachur RG, Simel DL, Neuman MI
JAMA 2017 Aug 1;318(5):462-471. doi: 10.1001/jama.2017.9039. PMID: 28763554

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