Details of Disease

General Information of Disease (ID: DIS3HNXT)

• Disease Name: Glucocorticoid resistance
• Synonyms: GCCR; Grl deficiency; Gcr deficiency; glucocorticoid receptor deficiency; glucocorticoid resistance, generalized; glucocorticoid resistance, generalised; Gccr deficiency; cortisol resistance from glucocorticoid receptor defect
• Definition: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
• Disease Hierarchy:
  DIS2N76U: Adrenogenital syndrome
  DISEOA7S: Lipid metabolism disorder
  DIS3HNXT: Glucocorticoid resistance
• Disease Identifiers:
  MONDO ID: MONDO_0014421
  MESH ID: C564221
  UMLS CUI: C1841972
  OMIM ID: 615962
  MedGen ID: 333960
  Orphanet ID: 786

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMT2A	TT1GNDM	moderate	Biomarker	[1]
CRLF2	TTRMZ0N	Strong	Biomarker	[2]
FKBP4	TTHY0FT	Strong	Altered Expression	[3]
FKBP5	TT0J5KQ	Strong	Altered Expression	[3]
HDAC2	TTSHTOI	Strong	Genetic Variation	[4]
HSP90AB1	TTH5YN2	Strong	Altered Expression	[5]
NR3C1	TTOZRK6	Strong	Autosomal dominant	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP3A7	DERD86B	Strong	Genetic Variation	[7]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY9	OT1IZT5K	Strong	Genetic Variation	[7]
BCL2L11	OTNQQWFJ	Strong	Biomarker	[8]
DPT	OTINRFC7	Strong	Altered Expression	[9]
MYBBP1A	OTIVEMIU	Strong	Genetic Variation	[10]
NCOA2	OTMQFPBB	Strong	Genetic Variation	[11]
NR3C1	OTCI2YDI	Strong	Autosomal dominant	[6]
PELP1	OTVXQNOT	Strong	Genetic Variation	[10]
SRSF9	OT2STDP4	Strong	Altered Expression	[12]

References

• [1] Chemical genomic screening identifies LY294002 as a modulator of glucocorticoid resistance in MLL-rearranged infant ALL.Leukemia. 2014 Apr;28(4):761-9. doi: 10.1038/leu.2013.245. Epub 2013 Aug 20.
• [2] CRLF2 rearrangement in Ph-like acute lymphoblastic leukemia predicts relative glucocorticoid resistance that is overcome with MEK or Akt inhibition.PLoS One. 2019 Jul 18;14(7):e0220026. doi: 10.1371/journal.pone.0220026. eCollection 2019.
• [3] FKBP51 is associated with early postoperative cognitive dysfunction in elderly patients undergoing hip fracture surgery.Medicine (Baltimore). 2019 Feb;98(5):e14037. doi: 10.1097/MD.0000000000014037.
• [4] The potential of lipid-polymer nanoparticles as epigenetic and ROS control approaches for COPD.Free Radic Res. 2020 Dec;54(11-12):829-840. doi: 10.1080/10715762.2019.1696965. Epub 2019 Dec 6.
• [5] Expression of hsp90 beta messenger ribonucleic acid in patients with familial glucocorticoid resistance--correlation to receptor status.J Steroid Biochem Mol Biol. 1995 Apr;52(4):345-9. doi: 10.1016/0960-0760(94)00178-o.
• [6] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [7] The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.Am J Obstet Gynecol. 2012 May;206(5):447.e17-24. doi: 10.1016/j.ajog.2012.02.016. Epub 2012 Feb 28.
• [8] Glucocorticoid Resistance in Acute Lymphoblastic Leukemia: BIM Finally.Cancer Cell. 2018 Dec 10;34(6):869-871. doi: 10.1016/j.ccell.2018.11.011.
• [9] Epigenetically altered wound healing in keloid fibroblasts.J Invest Dermatol. 2010 Oct;130(10):2489-96. doi: 10.1038/jid.2010.162. Epub 2010 Jun 17.
• [10] A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.J Clin Endocrinol Metab. 2014 May;99(5):E902-7. doi: 10.1210/jc.2013-3005. Epub 2014 Jan 31.
• [11] A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.J Clin Endocrinol Metab. 2007 Oct;92(10):3986-90. doi: 10.1210/jc.2006-2830. Epub 2007 Jul 17.
• [12] Bombesin attenuates pre-mRNA splicing of glucocorticoid receptor by regulating the expression of serine-arginine protein p30c (SRp30c) in prostate cancer cells.Biochim Biophys Acta. 2007 Jul;1773(7):1087-94. doi: 10.1016/j.bbamcr.2007.04.016. Epub 2007 May 3.