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Glucocorticoid-remediable aldosteronism(GSH; GRA; HALD1)

MedGen UID:
824577
Concept ID:
C3838731
Disease or Syndrome
Synonyms: ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I
SNOMED CT: Familial hyperaldosteronism type 1 (703232003); Glucocorticoid-sensitive hypertension (703232003); Glucocorticoid-suppressible hyperaldosteronism (703232003); Glucocorticoid-remediable aldosteronism (703232003); Familial hyperaldosteronism type I (703232003); Dexamethasone-sensitive hypertension (703232003); GRA - glucocorticoid-remediable aldosteronism (703232003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CYP11B1 (8q24.3)
 
Monarch Initiative: MONDO:0007080
OMIM®: 103900
Orphanet: ORPHA403

Definition

Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13. [from OMIM]

Clinical features

From HPO
Abnormality of the urinary system
MedGen UID:
867444
Concept ID:
C4021821
Disease or Syndrome
An abnormality of the urinary system.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Adrenogenital syndrome
MedGen UID:
86215
Concept ID:
C0302280
Disease or Syndrome
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
Adrenal hyperplasia
MedGen UID:
301220
Concept ID:
C1621895
Disease or Syndrome
Enlargement of the adrenal gland.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin in the blood.

Professional guidelines

PubMed

Lenders JWM, Williams TA, Reincke M, Gomez-Sanchez CE
Eur J Endocrinol 2018 Jan;178(1):R1-R9. Epub 2017 Sep 13 doi: 10.1530/EJE-17-0563. PMID: 28904009Free PMC Article
Vaidya A, Malchoff CD, Auchus RJ; AACE Adrenal Scientific Committee
Endocr Pract 2017 Jun;23(6):680-689. Epub 2017 Mar 23 doi: 10.4158/EP161717.RA. PMID: 28332881
Zennaro MC, Jeunemaitre X
Ann Endocrinol (Paris) 2016 Jul;77(3):214-9. Epub 2016 Jun 15 doi: 10.1016/j.ando.2016.02.006. PMID: 27315758

Recent clinical studies

Etiology

Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Vaidya A, Hamrahian AH, Auchus RJ
Endocr Pract 2015 Apr;21(4):400-5. Epub 2015 Feb 9 doi: 10.4158/EP14512.RA. PMID: 25667376Free PMC Article
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
Wyckoff JA, Seely EW, Hurwitz S, Anderson BF, Lifton RP, Dluhy RG
Hypertension 2000 Feb;35(2):668-72. doi: 10.1161/01.hyp.35.2.668. PMID: 10679515

Diagnosis

Halperin F, Dluhy RG
Endocrinol Metab Clin North Am 2011 Jun;40(2):333-41, viii. doi: 10.1016/j.ecl.2011.01.012. PMID: 21565670
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
McMahon GT, Dluhy RG
Cardiol Rev 2004 Jan-Feb;12(1):44-8. doi: 10.1097/01.crd.0000096417.42861.ce. PMID: 14667264
Fardella CE, Mosso L
Clin Lab 2002;48(3-4):181-90. PMID: 11934220
Dluhy RG, Lifton RP
J Clin Endocrinol Metab 1999 Dec;84(12):4341-4. doi: 10.1210/jcem.84.12.6256. PMID: 10599685

Therapy

Halperin F, Dluhy RG
Endocrinol Metab Clin North Am 2011 Jun;40(2):333-41, viii. doi: 10.1016/j.ecl.2011.01.012. PMID: 21565670
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
McMahon GT, Dluhy RG
Cardiol Rev 2004 Jan-Feb;12(1):44-8. doi: 10.1097/01.crd.0000096417.42861.ce. PMID: 14667264
Dluhy RG, Lifton RP
J Clin Endocrinol Metab 1999 Dec;84(12):4341-4. doi: 10.1210/jcem.84.12.6256. PMID: 10599685
Williams GH, Dluhy RG
J Endocrinol Invest 1995 Jul-Aug;18(7):512-7. doi: 10.1007/BF03349762. PMID: 9221269

Prognosis

Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Moo TA, Zarnegar R, Duh QY
Curr Treat Options Oncol 2007 Aug;8(4):314-21. doi: 10.1007/s11864-007-0039-8. PMID: 18058076
Wyckoff JA, Seely EW, Hurwitz S, Anderson BF, Lifton RP, Dluhy RG
Hypertension 2000 Feb;35(2):668-72. doi: 10.1161/01.hyp.35.2.668. PMID: 10679515
Litchfield WR, Anderson BF, Weiss RJ, Lifton RP, Dluhy RG
Hypertension 1998 Jan;31(1 Pt 2):445-50. doi: 10.1161/01.hyp.31.1.445. PMID: 9453343
Holland OB
Semin Nephrol 1995 Mar;15(2):116-25. PMID: 7777722

Clinical prediction guides

Moo TA, Zarnegar R, Duh QY
Curr Treat Options Oncol 2007 Aug;8(4):314-21. doi: 10.1007/s11864-007-0039-8. PMID: 18058076
Libé R, Bertherat J
Eur J Endocrinol 2005 Oct;153(4):477-87. doi: 10.1530/eje.1.02004. PMID: 16189167
Mulatero P, di Cella SM, Williams TA, Milan A, Mengozzi G, Chiandussi L, Gomez-Sanchez CE, Veglio F
J Clin Endocrinol Metab 2002 Jul;87(7):3187-91. doi: 10.1210/jcem.87.7.8647. PMID: 12107222
Dluhy RG, Lifton RP
Steroids 1995 Jan;60(1):48-51. doi: 10.1016/0039-128x(94)00010-a. PMID: 7792815
Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM
Nature 1992 Jan 16;355(6357):262-5. doi: 10.1038/355262a0. PMID: 1731223

Recent systematic reviews

Tan ST, Boyle V, Elston MS
Hypertension 2023 Jul;80(7):1517-1525. Epub 2023 May 12 doi: 10.1161/HYPERTENSIONAHA.123.21054. PMID: 37170822
Sanga V, Seccia TM, Rossi GP
Endocrine 2021 Oct;74(1):5-10. Epub 2021 May 27 doi: 10.1007/s12020-021-02763-5. PMID: 34043182Free PMC Article

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