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Steroid inherited metabolic disorder

MedGen UID:
219772
•Concept ID:
C1257809
•
Disease or Syndrome
Synonyms: Congenital Errors of Steroid Metabolism; Inborn Errors of Steroid Metabolism; Steroid Metabolic Diseases, Inborn; Steroid Metabolism, Inborn Errors
 
Monarch Initiative: MONDO:0005523

Definition

Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSteroid inherited metabolic disorder

Professional guidelines

PubMed

Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Recent clinical studies

Etiology

The pathophysiology of hypophosphatemia.
Ito N, Hidaka N, Kato H
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101851. Epub 2023 Nov 30 doi: 10.1016/j.beem.2023.101851. PMID: 38087658
Hypoglycaemia in adrenal insufficiency.
Lee SC, Baranowski ES, Sakremath R, Saraff V, Mohamed Z
Front Endocrinol (Lausanne) 2023;14:1198519. Epub 2023 Nov 20 doi: 10.3389/fendo.2023.1198519. PMID: 38053731Free PMC Article
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
World Heart Federation Cholesterol Roadmap 2022.
Ray KK, Ference BA, Séverin T, Blom D, Nicholls SJ, Shiba MH, Almahmeed W, Alonso R, Daccord M, Ezhov M, Olmo RF, Jankowski P, Lanas F, Mehta R, Puri R, Wong ND, Wood D, Zhao D, Gidding SS, Virani SS, Lloyd-Jones D, Pinto F, Perel P, Santos RD
Glob Heart 2022;17(1):75. Epub 2022 Oct 14 doi: 10.5334/gh.1154. PMID: 36382159Free PMC Article
Calcium metabolism in health and disease.
Peacock M
Clin J Am Soc Nephrol 2010 Jan;5 Suppl 1:S23-30. doi: 10.2215/CJN.05910809. PMID: 20089499

Diagnosis

Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA
BMC Med Genomics 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2. PMID: 32041611Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Familial hypercholesterolaemia.
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Therapy

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA
BMC Med Genomics 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2. PMID: 32041611Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Disorders affecting vitamin B(6) metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
Familial hypercholesterolaemia.
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Prognosis

World Heart Federation Cholesterol Roadmap 2022.
Ray KK, Ference BA, Séverin T, Blom D, Nicholls SJ, Shiba MH, Almahmeed W, Alonso R, Daccord M, Ezhov M, Olmo RF, Jankowski P, Lanas F, Mehta R, Puri R, Wong ND, Wood D, Zhao D, Gidding SS, Virani SS, Lloyd-Jones D, Pinto F, Perel P, Santos RD
Glob Heart 2022;17(1):75. Epub 2022 Oct 14 doi: 10.5334/gh.1154. PMID: 36382159Free PMC Article
Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA
BMC Med Genomics 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2. PMID: 32041611Free PMC Article
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R
Kidney Int 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046. PMID: 28003083

Clinical prediction guides

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
The intestinal microbiota and metabolites in patients with anorexia nervosa.
Prochazkova P, Roubalova R, Dvorak J, Kreisinger J, Hill M, Tlaskalova-Hogenova H, Tomasova P, Pelantova H, Cermakova M, Kuzma M, Bulant J, Bilej M, Smitka K, Lambertova A, Holanova P, Papezova H
Gut Microbes 2021 Jan-Dec;13(1):1-25. doi: 10.1080/19490976.2021.1902771. PMID: 33779487Free PMC Article
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA
BMC Med Genomics 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2. PMID: 32041611Free PMC Article
Mendelian Randomization Study of ACLY and Cardiovascular Disease.
Ference BA, Ray KK, Catapano AL, Ference TB, Burgess S, Neff DR, Oliver-Williams C, Wood AM, Butterworth AS, Di Angelantonio E, Danesh J, Kastelein JJP, Nicholls SJ
N Engl J Med 2019 Mar 14;380(11):1033-1042. doi: 10.1056/NEJMoa1806747. PMID: 30865797Free PMC Article

Recent systematic reviews

Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
Navarro-Zambrana AN, Sheets LR
Horm Res Paediatr 2023;96(3):249-258. Epub 2022 Aug 16 doi: 10.1159/000526401. PMID: 35973409
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.
Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF
J Bone Miner Res 2022 Oct;37(10):1926-1935. Epub 2022 Aug 22 doi: 10.1002/jbmr.4659. PMID: 35879818Free PMC Article
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2019 Nov 7;2019(11) doi: 10.1002/14651858.CD006401.pub5. PMID: 31696945Free PMC Article
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 28685504Free PMC Article
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E
Cochrane Database Syst Rev 2014 Jul 23;(7):CD006401. doi: 10.1002/14651858.CD006401.pub3. PMID: 25054950

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