Details of Disease

General Information of Disease (ID: DIS0XXBJ)

• Disease Name: Alopecia areata
• Synonyms: alopecia circumscripta; patchy loss of hair; alopecia areata; circumscribed alopecia
• Disease Class: ED70: Alopecia
• Definition: Loss of scalp and body hair involving microscopically inflammatory patchy areas.
• Disease Hierarchy:
  DIS37HU4: Alopecia
  DIS0XXBJ: Alopecia areata
• ICD Code: ICD-11: ICD-11: ED70.2
• Disease Identifiers:
  MONDO ID: MONDO_0005340
  MESH ID: D000506
  UMLS CUI: C0002171
  MedGen ID: 213
  SNOMED CT ID: 68225006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 5 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Abatacept	DMSA8RU	Approved	NA	[1]
Benzoic Acid	DMKB9FI	Approved	Small molecular drug	[2]
Imiquimod	DM1TMA3	Approved	Small molecular drug	[3]
Ritlecitinib	DMYKNME	Approved	NA	[4]
Triamcinolone	DM98IXF	Approved	Small molecular drug	[5]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Daxdilimab	DM5BV5H	Phase 2	Monoclonal antibody	[6]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CXCL10	TTQOVYA	Limited	Biomarker	[7]
CXCL9	TTWE5PB	Limited	Biomarker	[7]
CXCR3	TT1UCIJ	Limited	Biomarker	[7]
IL2RA	TT10Y9E	Limited	Biomarker	[8]
PRDX5	TTLPJWH	Limited	Biomarker	[9]
CTLA4	TTI2S1D	moderate	Genetic Variation	[8]
ERBB3	TTSINU2	Strong	Genetic Variation	[10]
ICOSLG	TTB9Z8R	Strong	Genetic Variation	[11]
IL13	TT0GVCH	Strong	Genetic Variation	[10]
MC2R	TTPWFDX	Strong	Genetic Variation	[12]
MCHR2	TTS17MG	Strong	Genetic Variation	[13]
NOTCH4	TTXDIK2	Strong	Biomarker	[14]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A12	DTZOKFJ	Strong	Genetic Variation	[15]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAET1L	OTG8UM2N	Limited	Biomarker	[9]
ACOXL	OTW680HT	Strong	Genetic Variation	[10]
CLEC16A	OTLGV5SV	Strong	Genetic Variation	[10]
FCRL3	OTIFXFWL	Strong	Genetic Variation	[16]
FLG	OTE9QDV6	Strong	Genetic Variation	[17]
IKZF4	OTHGPHOM	Strong	Genetic Variation	[9]
IL36RN	OT5CO95A	Strong	Genetic Variation	[18]
LPP	OT6TU8SE	Strong	Genetic Variation	[10]
MAGI3	OTDJ5QUH	Strong	Genetic Variation	[10]
MALRD1	OTCAAPVO	Strong	Genetic Variation	[15]
MCRS1	OT8K2X8P	Strong	Biomarker	[19]
MED25	OTDBY87B	Strong	Biomarker	[19]
MX1	OT6X8G5T	Strong	Biomarker	[19]
PTPN22	OTDCNTC3	Strong	Genetic Variation	[20]
STAMBP	OTOT2OXM	Strong	Genetic Variation	[21]
STX17	OT8TUN64	Strong	Genetic Variation	[9]
TSBP1	OT5GE8IO	Strong	Genetic Variation	[15]
AIRE	OTA7G1Y1	Definitive	Genetic Variation	[22]

References

• [1] Alopecia Areata: a Comprehensive Review of Pathogenesis and Management. Clin Rev Allergy Immunol. 2018 Feb;54(1):68-87.
• [2] Benzoic acid and its derivatives as naturally occurring compounds in foods and as additives: Uses, exposure, and controversy. Crit Rev Food Sci Nutr. 2017 Sep 22;57(14):3084-3103.
• [3] Imiquimod FDA Label
• [4] FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 215830
• [5] Triamcinolone FDA Label
• [6] ClinicalTrials.gov (NCT05368103) A Phase 2A, Open Label, Proof of Concept Trial of Daxdilimab for the Treatment of Moderate To Severe Alopecia Areata. U.S.National Institutes of Health.
• [7] Increased expression of Cxcr3 and its ligands, Cxcl9 and Cxcl10, during the development of alopecia areata in the mouse.J Invest Dermatol. 2012 Jun;132(6):1736-8. doi: 10.1038/jid.2012.17. Epub 2012 Feb 23.
• [8] Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata.Immunol Invest. 2018 Oct;47(7):666-679. doi: 10.1080/08820139.2018.1480032. Epub 2018 Jul 6.
• [9] Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.Nature. 2010 Jul 1;466(7302):113-7. doi: 10.1038/nature09114.
• [10] Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.Nat Commun. 2015 Jan 22;6:5966. doi: 10.1038/ncomms6966.
• [11] Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia areata.Clin Exp Med. 2014 Feb;14(1):91-7. doi: 10.1007/s10238-012-0224-3. Epub 2012 Nov 30.
• [12] The -2T/C polymorphism in the adrenocorticotropin receptor gene affects stress perception of patients with alopecia areata.Int J Dermatol. 2013 Apr;52(4):441-5. doi: 10.1111/j.1365-4632.2012.05749.x. Epub 2012 Dec 11.
• [13] Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.Exp Dermatol. 2017 Jun;26(6):536-541. doi: 10.1111/exd.13123. Epub 2017 Mar 23.
• [14] Genetic evidence for the involvement of NOTCH4 in rheumatoid arthritis and alopecia areata.Immunol Lett. 2013 Feb;150(1-2):130-3. doi: 10.1016/j.imlet.2013.01.002. Epub 2013 Jan 11.
• [15] Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.Eur J Hum Genet. 2012 Mar;20(3):326-32. doi: 10.1038/ejhg.2011.185. Epub 2011 Oct 26.
• [16] Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 (FCRL3) gene in alopecia areata.Int J Immunogenet. 2006 Dec;33(6):393-5. doi: 10.1111/j.1744-313X.2006.00633.x.
• [17] Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.Br J Dermatol. 2009 Dec;161(6):1391-5. doi: 10.1111/j.1365-2133.2009.09471.x. Epub 2009 Sep 28.
• [18] Genetic analysis of the interleukin-1 receptor antagonist and its homologue IL-1L1 in alopecia areata: strong severity association and possible gene interaction.Eur J Immunogenet. 2002 Feb;29(1):25-30. doi: 10.1046/j.1365-2370.2002.00271.x.
• [19] Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region.Hum Genet. 2000 Jun;106(6):639-45. doi: 10.1007/s004390000318.
• [20] The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata: A meta-analysis of case-control studies.Medicine (Baltimore). 2019 May;98(20):e15448. doi: 10.1097/MD.0000000000015448.
• [21] Novel STAMBP mutation and additional findings in an Arabic family.Am J Med Genet A. 2015 Apr;167A(4):805-9. doi: 10.1002/ajmg.a.36782. Epub 2015 Feb 18.
• [22] Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.Immunol Invest. 2020 Feb;49(1-2):146-165. doi: 10.1080/08820139.2019.1671450. Epub 2019 Oct 11.