Details of Disease

General Information of Disease (ID: DISZUK5W)

• Disease Name: Hypertrichosis
• Synonyms: hypertrichosis; hypertrichosis (disease)
• Definition: Excessive hair growth anywhere on the body.
• Disease Hierarchy:
  DISXPI0V: Disorder of pilosebaceous unit
  DISZUK5W: Hypertrichosis
• Disease Identifiers:
  MONDO ID: MONDO_0019280
  MESH ID: D006983
  UMLS CUI: C0020555
  MedGen ID: 43787
  HPO ID: HP:0000998
  Orphanet ID: 79365
  SNOMED CT ID: 271607001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMT2A	TT1GNDM	Limited	Genetic Variation	[1]
ABCC9	TTEF5MJ	Strong	Altered Expression	[2]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A3	DTZAWTH	Limited	Genetic Variation	[3]
SLC25A24	DTVAEDK	moderate	Genetic Variation	[4]
KCNK4	DTK2TVF	Strong	Biomarker	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASP14	OTKY93H9	Limited	Biomarker	[6]
SFXN1	OTL66767	Limited	Genetic Variation	[7]
TCF12	OTZVONNU	Limited	Biomarker	[8]
TRPS1	OT7XPPEL	Limited	Biomarker	[9]
ARID1B	OTILK3Q7	moderate	Biomarker	[10]
MED23	OTKZQT0R	Strong	Biomarker	[11]
SURF1	OTAINRSS	Strong	Genetic Variation	[12]

References

• [1] RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.Neuromolecular Med. 2018 Sep;20(3):409-417. doi: 10.1007/s12017-018-8502-1. Epub 2018 Jul 16.
• [2] De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.
• [3] A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.Pediatr Diabetes. 2019 Jun;20(4):474-481. doi: 10.1111/pedi.12839. Epub 2019 Apr 2.
• [4] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.
• [5] Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.
• [6] A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.Eur J Med Genet. 2012 Oct;55(10):564-7. doi: 10.1016/j.ejmg.2012.06.009. Epub 2012 Jun 30.
• [7] Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.J Clin Endocrinol Metab. 2004 May;89(5):2402-7. doi: 10.1210/jc.2003-031630.
• [8] A donor-specific QTL, exhibiting allelic variation for leaf sheath hairiness in a nested association mapping population, is located on barley chromosome 4H.PLoS One. 2017 Dec 7;12(12):e0189446. doi: 10.1371/journal.pone.0189446. eCollection 2017.
• [9] Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.PLoS Genet. 2012;8(11):e1003002. doi: 10.1371/journal.pgen.1003002. Epub 2012 Nov 1.
• [10] Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.
• [11] Mutation of KCNJ8 in a patient with Cant syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.
• [12] Hypertrichosis in presymptomatic mitochondrial disease.J Inherit Metab Dis. 2013 Nov;36(6):1081-2. doi: 10.1007/s10545-013-9593-3. Epub 2013 Feb 14.