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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

Successful treatment of JAK1-associated inflammatory disease.
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A, Sczakiel HL, Danyel M, Kohlmaier B, Mache CJ, Stalke A, Pfister ED, Thumfart J, Henning S, Knisely AS, Bufler P
Liver Int 2023 May;43(5):1089-1095. Epub 2023 Mar 27 doi: 10.1111/liv.15563. PMID: 36938759
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

Prevalence of Retinitis Pigmentosa in a Tertiary Eye Hospital of Nepal.
Gupta KK, Gurung G, Tulsyan N
Nepal J Ophthalmol 2022 Jan;14(27):31-38. doi: 10.3126/nepjoph.v14i1.38977. PMID: 35996901
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
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

Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV
Hormones (Athens) 2024 Mar;23(1):3-14. Epub 2023 Dec 1 doi: 10.1007/s42000-023-00508-9. PMID: 38038882Free 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

Successful treatment of JAK1-associated inflammatory disease.
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S
J Allergy Clin Immunol 2023 Oct;152(4):972-983. Epub 2023 Jun 19 doi: 10.1016/j.jaci.2023.06.004. PMID: 37343845
HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors.
Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free 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
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

Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV
Hormones (Athens) 2024 Mar;23(1):3-14. Epub 2023 Dec 1 doi: 10.1007/s42000-023-00508-9. PMID: 38038882Free PMC Article
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

Clinical prediction guides

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T
Am J Med Genet A 2023 Jul;191(7):1984-1989. Epub 2023 May 4 doi: 10.1002/ajmg.a.63225. PMID: 37141439
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A, Sczakiel HL, Danyel M, Kohlmaier B, Mache CJ, Stalke A, Pfister ED, Thumfart J, Henning S, Knisely AS, Bufler P
Liver Int 2023 May;43(5):1089-1095. Epub 2023 Mar 27 doi: 10.1111/liv.15563. PMID: 36938759
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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