Details of Disease | DrugMAP

General Information of Disease (ID: DIS9HI9T)

Disease Name	Dyschromatosis symmetrica hereditaria
Synonyms	dyschromatosis symmetrica hereditaria 1; familial reticulate acropigmentation of Dohi; DSH; symmetric dyschromatosis of the extremities; DSH1; dyschromatosis symmetrica hereditaria; reticulate acropigmentation of Dohi; RAD; acropigmentation of Dohi
Definition	Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DISVVE15: Reticulate pigment disorder DISDB01I: ADAR-related type 1 interferonopathy DIS9HI9T: Dyschromatosis symmetrica hereditaria
Disease Identifiers	MONDO ID MONDO_0007483 MESH ID C535729 UMLS CUI C0406775 OMIM ID 127400 MedGen ID 96071 Orphanet ID 41 SNOMED CT ID 239085000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADA	TTLP57V	Limited	Genetic Variation	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARSH	OTG0X9UQ	Strong	Biomarker	[2]
CTR9	OTP151PZ	Strong	Biomarker	[3]
ELP1	OTYEWBF7	Strong	Biomarker	[3]
PIK3R4	OTRL8QP8	Strong	Biomarker	[3]
RAB3GAP2	OTQTE0GI	Strong	Biomarker	[3]
ROBO2	OTFJ9FQW	Strong	Biomarker	[4]
ADAR	OTQNOHR8	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 7 DOT(s)

References

1	Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.Indian J Dermatol Venereol Leprol. 2019 Jan-Feb;85(1):69-73. doi: 10.4103/ijdvl.IJDVL_66_17.
2	Randomized pilot trial of a cognitive-behavioral alcohol, self-harm, and HIV prevention program for teens in mental health treatment.Behav Res Ther. 2017 Feb;89:49-56. doi: 10.1016/j.brat.2016.11.005. Epub 2016 Nov 12.
3	The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria.Br J Dermatol. 2013 Sep;169(3):637-44. doi: 10.1111/bjd.12401.
4	Robo and Ror function in a common receptor complex to regulate Wnt-mediated neurite outgrowth in Caenorhabditis elegans.Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):E2254-E2263. doi: 10.1073/pnas.1717468115. Epub 2018 Feb 20.
5	Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003 Sep;73(3):693-9. doi: 10.1086/378209. Epub 2003 Aug 11.