Details of Disease

General Information of Disease (ID: DIS4WI7S)

• Disease Name: Darier disease
• Synonyms: Darier disease, acral hemorrhagic type; Darier disease, segmental; dar; Darier White disease; DAR; Darier-White disease; Keratosis Follicularis; Darier disease; Darier's disease; keratosis follicularis
• Definition: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
• Disease Hierarchy:
  DISIDQ39: Epidermal disease
  DISSCALK: Hereditary skin disorder
  DIS4WI7S: Darier disease
• Disease Identifiers:
  MONDO ID: MONDO_0007417
  MESH ID: D007644
  UMLS CUI: C0022595
  OMIM ID: 124200
  MedGen ID: 5956
  Orphanet ID: 218
  SNOMED CT ID: 48611009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADRA1D	TT34BHT	Limited	Genetic Variation	[1]
TRPC1	TTA76X0	Limited	Biomarker	[2]
ATP2A2	TTE6THL	Definitive	Autosomal dominant	[3]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM3	DEOEB3Q	Limited	Biomarker	[4]
TGM5	DEW8QEH	Limited	Altered Expression	[4]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT1	OTIOJWA4	Limited	Altered Expression	[5]
KRT16	OTGA0EQN	Limited	Biomarker	[6]
OTP	OTS0JN6Y	Limited	Biomarker	[7]
POGLUT1	OTDX7GZD	Limited	Biomarker	[8]
PTH2	OTV5C5VT	Limited	Biomarker	[9]
SMOC1	OTJG2JQY	Limited	Genetic Variation	[10]
THOC5	OTHY50SK	Limited	Altered Expression	[11]
ATP2A3	OTFYDEES	Strong	Biomarker	[12]
ATP2A2	OTPGAU0U	Definitive	Autosomal dominant	[3]

References

• [1] Eleven trinucleotide repeat loci that map to chromosome 12 excluded from involvement in the pathogenesis of bipolar disorder.Am J Med Genet. 1999 Feb 5;88(1):67-70. doi: 10.1002/(sici)1096-8628(19990205)88:1<67::aid-ajmg12>3.0.co;2-#.
• [2] Darier's disease: a calcium-signaling perspective.Cell Mol Life Sci. 2008 Jan;65(2):205-11. doi: 10.1007/s00018-007-7397-z.
• [3] Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784.
• [4] Expression of transglutaminase 5 in normal and pathologic human epidermis.J Invest Dermatol. 2002 Sep;119(3):670-7. doi: 10.1046/j.1523-1747.2002.01853.x.
• [5] Differential expression of CRABP II, psoriasin and cytokeratin 1 mRNA in human skin diseases.Arch Dermatol Res. 1996 Jul;288(8):426-30. doi: 10.1007/BF02505229.
• [6] A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.Exp Dermatol. 1999 Apr;8(2):109-14. doi: 10.1111/j.1600-0625.1999.tb00356.x.
• [7] Dynamical decoupling of nitroxides in o-terphenyl: a study of temperature, deuteration and concentration effects.Phys Chem Chem Phys. 2018 Jan 17;20(3):1615-1628. doi: 10.1039/c7cp07074h.
• [8] Dowling-Degos disease co-presenting with Darier disease.Clin Exp Dermatol. 2016 Jun;41(4):410-2. doi: 10.1111/ced.12790. Epub 2015 Dec 18.
• [9] The parathyroid hormone family member TIP39 interacts with sarco/endoplasmic reticulum Ca(2+) - ATPase activity by influencing calcium homoeostasis.Exp Dermatol. 2017 Sep;26(9):792-797. doi: 10.1111/exd.13294. Epub 2017 Apr 21.
• [10] Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794.
• [11] THO Complex-Dependent Posttranscriptional Control Contributes to Vascular Smooth Muscle Cell Fate Decision.Circ Res. 2018 Aug 17;123(5):538-549. doi: 10.1161/CIRCRESAHA.118.313527.
• [12] Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes.Eur J Dermatol. 2010 May-Jun;20(3):271-5. doi: 10.1684/ejd.2010.0913. Epub 2010 Apr 27.