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Syndromic disease

MedGen UID:
11688
•Concept ID:
C0039082
•
Disease or Syndrome
Synonyms: Cluster, Symptom; Clusters, Symptom; Symptom Cluster; Symptom Clusters; Syndrome; Syndromes
SNOMED CT: Syndrome (64572001)
 
Monarch Initiative: MONDO:0002254

Definition

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic disease

Professional guidelines

PubMed

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM
Ophthalmic Genet 2020 Aug;41(4):331-337. Epub 2020 Jun 16 doi: 10.1080/13816810.2020.1778736. PMID: 32543920
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina 2020 Sep;40(9):1829-1837. doi: 10.1097/IAE.0000000000002675. PMID: 31725702
Drug management of neutrophilic dermatoses.
Garcovich S, De Simone C, Berti E, Marzano AV
Expert Rev Clin Pharmacol 2017 Oct;10(10):1119-1128. Epub 2017 Jul 27 doi: 10.1080/17512433.2017.1356719. PMID: 28715916

Recent clinical studies

Etiology

Adrenal tumors: when to search for a germline abnormality?
Gimenez-Roqueplo AP
Curr Opin Oncol 2019 May;31(3):230-235. doi: 10.1097/CCO.0000000000000525. PMID: 30985498
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.
Cheung VKY, Gill AJ, Chou A
Endocr Pathol 2018 Jun;29(2):169-175. doi: 10.1007/s12022-018-9534-7. PMID: 29779206
Drug management of neutrophilic dermatoses.
Garcovich S, De Simone C, Berti E, Marzano AV
Expert Rev Clin Pharmacol 2017 Oct;10(10):1119-1128. Epub 2017 Jul 27 doi: 10.1080/17512433.2017.1356719. PMID: 28715916
Dilated cardiomyopathy: the complexity of a diverse genetic architecture.
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355
Consanguinity and the risk of congenital heart disease.
Shieh JT, Bittles AH, Hudgins L
Am J Med Genet A 2012 May;158A(5):1236-41. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35272. PMID: 22488956Free PMC Article

Diagnosis

Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.
Jiang X, Mahroo OA
Eye (Lond) 2021 Sep;35(9):2419-2437. Epub 2021 Jun 14 doi: 10.1038/s41433-021-01604-z. PMID: 34127841Free PMC Article
Adrenal tumors: when to search for a germline abnormality?
Gimenez-Roqueplo AP
Curr Opin Oncol 2019 May;31(3):230-235. doi: 10.1097/CCO.0000000000000525. PMID: 30985498
Pierre Robin Sequence.
Hsieh ST, Woo AS
Clin Plast Surg 2019 Apr;46(2):249-259. Epub 2019 Feb 8 doi: 10.1016/j.cps.2018.11.010. PMID: 30851756
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.
Cheung VKY, Gill AJ, Chou A
Endocr Pathol 2018 Jun;29(2):169-175. doi: 10.1007/s12022-018-9534-7. PMID: 29779206
Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA
Semin Ophthalmol 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. PMID: 25325857

Therapy

Outcomes following general anaesthesia in children with hypertrophic cardiomyopathy.
Norrish G, Forshaw N, Woo C, Avanis MC, Field E, Cervi E, Iguchi A, Kaski JP
Arch Dis Child 2019 May;104(5):471-475. Epub 2018 Nov 9 doi: 10.1136/archdischild-2018-315366. PMID: 30413484Free PMC Article
Drug management of neutrophilic dermatoses.
Garcovich S, De Simone C, Berti E, Marzano AV
Expert Rev Clin Pharmacol 2017 Oct;10(10):1119-1128. Epub 2017 Jul 27 doi: 10.1080/17512433.2017.1356719. PMID: 28715916
Molecular signature of active fibrogenesis prevails in biliary atresia after successful portoenterostomy.
Kerola A, Lampela H, Lohi J, Heikkilä P, Mutanen A, Jalanko H, Pakarinen MP
Surgery 2017 Sep;162(3):548-556. Epub 2017 Jun 24 doi: 10.1016/j.surg.2017.04.013. PMID: 28655415
Side-effects and complications of laser treatment in diabetic retinal disease.
Deschler EK, Sun JK, Silva PS
Semin Ophthalmol 2014 Sep-Nov;29(5-6):290-300. doi: 10.3109/08820538.2014.959198. PMID: 25325854
The continuing importance of thyroid scintigraphy in the era of high-resolution ultrasound.
Meller J, Becker W
Eur J Nucl Med Mol Imaging 2002 Aug;29 Suppl 2:S425-38. Epub 2002 May 15 doi: 10.1007/s00259-002-0811-8. PMID: 12192542

Prognosis

Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.
Cheung VKY, Gill AJ, Chou A
Endocr Pathol 2018 Jun;29(2):169-175. doi: 10.1007/s12022-018-9534-7. PMID: 29779206
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
"Wild type" GIST: Clinicopathological features and clinical practice.
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA
Semin Ophthalmol 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. PMID: 25325857
The continuing importance of thyroid scintigraphy in the era of high-resolution ultrasound.
Meller J, Becker W
Eur J Nucl Med Mol Imaging 2002 Aug;29 Suppl 2:S425-38. Epub 2002 May 15 doi: 10.1007/s00259-002-0811-8. PMID: 12192542

Clinical prediction guides

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Multifocality is not associated with worse survival in sporadic pancreatic neuroendocrine tumors.
Gudmundsdottir H, Graham RP, Sonbol MB, Smoot RL, Truty MJ, Kendrick ML, Nagorney DM, Habermann EB, Halfdanarson TR, Cleary SP
J Surg Oncol 2021 Dec;124(7):1077-1084. Epub 2021 Jul 26 doi: 10.1002/jso.26618. PMID: 34310723
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
"Wild type" GIST: Clinicopathological features and clinical practice.
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Dilated cardiomyopathy: the complexity of a diverse genetic architecture.
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Recent systematic reviews

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec RM, Hamby SE, Jones PD, Safwan K, Sosin M, Hetherington SL, Sprigings D, Sharman D, Lee K, Salahshouri P, Wheeldon N, Chukwuemeka A, Boutziouka V, Elamin M, Coolman S, Asiani M, Kharodia S, Skinner GJ, Samani NJ, Webb TR, Bolger AP
Heart 2022 Jun 24;108(14):1114-1120. doi: 10.1136/heartjnl-2021-320428. PMID: 35288444Free PMC Article
Syndromic Autism Revisited: Review of the Literature and Lessons Learned.
Ziats CA, Patterson WG, Friez M
Pediatr Neurol 2021 Jan;114:21-25. Epub 2020 Jun 28 doi: 10.1016/j.pediatrneurol.2020.06.011. PMID: 33189026
Consanguinity and the risk of congenital heart disease.
Shieh JT, Bittles AH, Hudgins L
Am J Med Genet A 2012 May;158A(5):1236-41. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35272. PMID: 22488956Free PMC Article

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