Details of Disease

General Information of Disease (ID: DIS80CUB)

• Disease Name: Atrichia with papular lesions
• Synonyms: APL; atrichia with papular lesions; papular atrichia
• Definition: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS37HU4: Alopecia
  DIS80CUB: Atrichia with papular lesions
• Disease Identifiers:
  MONDO ID: MONDO_0008847
  MESH ID: C565924
  UMLS CUI: C1859592
  OMIM ID: 209500
  MedGen ID: 395299
  Orphanet ID: 86819
  SNOMED CT ID: 715963002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGPAT2	TT9AYVR	Strong	Altered Expression	[1]
NPM1	TTHBS98	Strong	Biomarker	[2]
PML	TTLH9NY	Strong	Biomarker	[3]
RARA	TTW38KT	Strong	Biomarker	[4]
TOP2B	TT4NVEM	Strong	Altered Expression	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AS3MT	DE9KJP3	Limited	Genetic Variation	[6]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRIB3	OTG5OS7X	Limited	Biomarker	[7]
AGL	OTWBM7WY	moderate	Genetic Variation	[8]
ADCY9	OT1IZT5K	Strong	Altered Expression	[9]
CCNA1	OTX4HD45	Strong	Altered Expression	[10]
CEBPE	OTKZA25M	Strong	Biomarker	[11]
DAPK2	OTWODUQG	Strong	Biomarker	[12]
HOXB2	OTTD6HMV	Strong	Altered Expression	[13]
KAT2A	OTN0W2SW	Strong	Biomarker	[14]
KDM3B	OTZU5J5S	Strong	Biomarker	[15]
LMNB2	OTXRDUOS	Strong	Biomarker	[1]
MATN1	OTBRTCTQ	Strong	Biomarker	[16]
PEG10	OTWD2278	Strong	Biomarker	[17]
PRAM1	OTZN3DWD	Strong	Genetic Variation	[18]
HR	OTHEZWPW	Definitive	Autosomal recessive	[19]

References

• [1] Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.J Lipid Res. 2007 Jul;48(7):1433-44. doi: 10.1194/jlr.R700004-JLR200. Epub 2007 Mar 20.
• [2] Extrinsic apoptosis is impeded by direct binding of the APL fusion protein NPM-RAR to TRADD.Mol Cancer Res. 2014 Sep;12(9):1283-91. doi: 10.1158/1541-7786.MCR-14-0080. Epub 2014 Jul 17.
• [3] Autophagy and Ubiquitin-Mediated Proteolytic Degradation of PML/Rar Fusion Protein in Matrine-Induced Differentiation Sensitivity Recovery of ATRA-Resistant APL (NB4-LR1) Cells: in Vitro and in Vivo Studies.Cell Physiol Biochem. 2018;48(6):2286-2301. doi: 10.1159/000492646. Epub 2018 Aug 16.
• [4] FLT3-ITD impedes retinoic acid, but not arsenic, responses in murine acute promyelocytic leukemias.Blood. 2019 Mar 28;133(13):1495-1506. doi: 10.1182/blood-2018-07-866095. Epub 2019 Jan 23.
• [5] Targeting PKC delta-mediated topoisomerase II beta overexpression subverts the differentiation block in a retinoic acid-resistant APL cell line.Leukemia. 2010 Apr;24(4):729-39. doi: 10.1038/leu.2010.27. Epub 2010 Mar 4.
• [6] Influence of AS3MT polymorphisms on arsenic metabolism and liver injury in APL patients treated with arsenic trioxide.Toxicol Appl Pharmacol. 2019 Sep 15;379:114687. doi: 10.1016/j.taap.2019.114687. Epub 2019 Jul 19.
• [7] TRIB3 Promotes APL Progression through Stabilization of the Oncoprotein PML-RAR and Inhibition of p53-Mediated Senescence.Cancer Cell. 2017 May 8;31(5):697-710.e7. doi: 10.1016/j.ccell.2017.04.006.
• [8] Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.J Hum Genet. 2014 Jan;59(1):16-23. doi: 10.1038/jhg.2013.107. Epub 2013 Oct 24.
• [9] MicroRNA-181a-mediated downregulation of AC9 protein decreases intracellular cAMP level and inhibits ATRA-induced APL cell differentiation.Cell Death Dis. 2014 Apr 10;5(4):e1161. doi: 10.1038/cddis.2014.130.
• [10] WT1 regulates cyclinA1 expression in K562cells.Oncol Rep. 2019 Nov;42(5):2016-2028. doi: 10.3892/or.2019.7287. Epub 2019 Aug 21.
• [11] Activation of G0S2 is coordinated by recruitment of PML/RAR and C/EBP to its promoter during ATRA-induced APL differentiation.J Leukoc Biol. 2017 Mar;101(3):655-664. doi: 10.1189/jlb.1A0316-116R. Epub 2016 Sep 7.
• [12] Distinct TP73-DAPK2-ATG5 pathway involvement in ATO-mediated cell death versus ATRA-mediated autophagy responses in APL. J Leukoc Biol. 2017 Dec;102(6):1357-1370. doi: 10.1189/jlb.1A0317-132R. Epub 2017 Oct 4.
• [13] Regulation of Hoxb2 by APL-associated PLZF protein.Oncogene. 2003 Jun 12;22(24):3685-97. doi: 10.1038/sj.onc.1206328.
• [14] The acetyltransferase GCN5 maintains ATRA-resistance in non-APL AML.Leukemia. 2019 Nov;33(11):2628-2639. doi: 10.1038/s41375-019-0581-y. Epub 2019 Oct 1.
• [15] KDM3B suppresses APL progression by restricting chromatin accessibility and facilitating the ATRA-mediated degradation of PML/RAR.Cancer Cell Int. 2019 Oct 4;19:256. doi: 10.1186/s12935-019-0979-7. eCollection 2019.
• [16] Assessment of late cardiomyopathy by magnetic resonance imaging in patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and idarubicin.Ann Hematol. 2017 Jul;96(7):1077-1084. doi: 10.1007/s00277-017-3004-z. Epub 2017 Apr 28.
• [17] Addressing the room for improvement in management of acute promyelocytic leukemia.Eur J Haematol. 2019 Jun;102(6):479-485. doi: 10.1111/ejh.13229. Epub 2019 Apr 7.
• [18] Variations on a theme: the alternate translocations in APL.Leukemia. 2002 Oct;16(10):1927-32. doi: 10.1038/sj.leu.2402720.
• [19] Alopecia universalis associated with a mutation in the human hairless gene. Science. 1998 Jan 30;279(5351):720-4. doi: 10.1126/science.279.5351.720.