Details of Disease

General Information of Disease (ID: DISRGY2N)

Disease Name	Endocrine disease
Synonyms	endocrine disorder; endocrine system disease; disease or disorder of endocrine system; endocrine disease; disorder of endocrine system; disease of endocrine system; thyroid or other glandular disorders; endocrinopathy; endocrine system disorder; endocrine system disease or disorder
Disease Class	5B3Z: Endocrine disease
Definition	A disease involving the endocrine system.
Disease Hierarchy	DISH7H5I: Human disease DISRGY2N: Endocrine disease
ICD Code	ICD-11 ICD-11: 5B3Z ICD-10 ICD-10: E20-E35 Expand ICD-11 '5B3Z Expand ICD-10 'E20-E35
Disease Identifiers	MONDO ID MONDO_0005151 MESH ID D004700 UMLS CUI C0014130 MedGen ID 4043 SNOMED CT ID 362969004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
C4X-101	DM5971G	Investigative	NA	[1]
HRA-072033	DM0LSZQ	Investigative	NA	[2]
PTHr pepducins	DM10KIW	Investigative	NA	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PGC	TT7K6AD	Limited	Biomarker	[4]
PPY	TTIB95A	Limited	Biomarker	[5]
FANCA	TTV5HJS	moderate	Biomarker	[6]
CPE	TTXPWO6	Strong	Biomarker	[7]
MTOR	TTCJG29	Strong	Biomarker	[8]
PCSK1	TTED9LZ	Strong	Biomarker	[9]
PTH	TT6F7GZ	Strong	Altered Expression	[10]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD1	DTKM9DZ	Strong	Genetic Variation	[11]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNAS	OTMH8BKJ	Limited	Genetic Variation	[12]
PROP1	OT8GF6N8	Limited	Genetic Variation	[13]
SH2B2	OTEDHHDH	Limited	Genetic Variation	[14]
MEN1	OTN6U6V0	Strong	Genetic Variation	[15]
MNX1	OTXP9FH1	Strong	Genetic Variation	[16]
RBM28	OT9A48WV	Strong	Altered Expression	[17]
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⏷ Show the Full List of 6 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 363).
2	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
3	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 332).
4	Isolation and characterization of a pepsin C zymogen produced by human breast tissues.J Biol Chem. 1992 Dec 5;267(34):24725-31.
5	Pancreatic polypeptide as screening marker for pancreatic polypeptide apudomas in multiple endocrinopathies.Am J Surg. 1980 Jan;139(1):61-72. doi: 10.1016/0002-9610(80)90231-7.
6	Delineating the role of FANCA in glucose-stimulated insulin secretion in cells through its protein interactome.PLoS One. 2019 Aug 28;14(8):e0220568. doi: 10.1371/journal.pone.0220568. eCollection 2019.
7	The carboxypeptidase E knockout mouse exhibits endocrinological and behavioral deficits.Endocrinology. 2004 Dec;145(12):5807-19. doi: 10.1210/en.2004-0847. Epub 2004 Sep 9.
8	MTOR inhibitor-based combination therapies for pancreatic cancer.Br J Cancer. 2018 Feb 6;118(3):366-377. doi: 10.1038/bjc.2017.421. Epub 2018 Jan 2.
9	PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.Endocr Rev. 2016 Aug;37(4):347-71. doi: 10.1210/er.2015-1117. Epub 2016 May 17.
10	Deficiency in the secreted protein Semaphorin3d causes abnormal parathyroid development in mice.J Biol Chem. 2019 May 24;294(21):8336-8347. doi: 10.1074/jbc.RA118.007063. Epub 2019 Apr 12.
11	Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.Pediatr Neurol. 2014 Jun;50(6):622-4. doi: 10.1016/j.pediatrneurol.2014.01.027. Epub 2014 Jan 16.
12	The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases.Hum Pathol. 2012 Aug;43(8):1234-42. doi: 10.1016/j.humpath.2011.09.012. Epub 2012 Jan 14.
13	Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.Hum Mol Genet. 2001 May 15;10(11):1141-53. doi: 10.1093/hmg/10.11.1141.
14	Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population.Horm Res. 2005;64(5):253-60. doi: 10.1159/000089293. Epub 2005 Oct 27.
15	Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).Hum Mutat. 2010 Jan;31(1):E1089-101. doi: 10.1002/humu.21170.
16	Functional Defects From Endocrine Disease-Associated Mutations in HLXB9 and Its Interacting Partner, NONO.Endocrinology. 2018 Feb 1;159(2):1199-1212. doi: 10.1210/en.2017-03155.
17	Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet. 2008 May;82(5):1114-21. doi: 10.1016/j.ajhg.2008.03.014. Epub 2008 Apr 24.