Dyschromatosis symmetrica hereditaria 1

A hereditary autosomal dominant condition primarily observed in persons of Chinese or Japanese descent. It is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. Mutations in the ADAR gene have been identified. OMIM: 127400

Also Known As:

Networked: 35 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Skin Diseases (Skin Disease)
2.	Dowling-Degos Disease
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
5.	Psoriasis (Pustulosis Palmaris et Plantaris)

Experts

1.	Kono, Michihiro: 5 articles (01/2020 - 09/2003)
2.	Li, Ming: 4 articles (02/2016 - 06/2004)
3.	Akiyama, Masashi: 3 articles (01/2020 - 03/2014)
4.	Liu, Y: 3 articles (09/2013 - 08/2006)
5.	Suzuki, Tamio: 3 articles (09/2013 - 09/2003)
6.	Gao, Min: 3 articles (01/2007 - 06/2004)
7.	Yang, Sen: 3 articles (01/2007 - 06/2004)
8.	Zhang, Xue-Jun: 3 articles (01/2007 - 06/2004)
9.	Suganuma, Mutsumi: 2 articles (01/2020 - 03/2014)
10.	Dong, Yingying: 2 articles (01/2019 - 03/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dyschromatosis symmetrica hereditaria 1:

1.	Adenosine DeaminaseIBA 01/01/2019 - "Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). " 02/18/2016 - "Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. " 01/04/2013 - "We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. " 03/01/2011 - "Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)." 08/01/2010 - "Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities and caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. "
2.	RNA (Ribonucleic Acid)IBA 01/01/2019 - "Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). " 10/01/2008 - "Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). " 01/01/2007 - "Dyschromatosis symmetrica hereditaria (OMIM127400) is a rare autosomal dominant pigmentary genodermatosis caused by mutations in the RNA-specific adenosine deaminase (ADAR) gene. " 01/01/2007 - "Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria." 08/01/2005 - "The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described."
3.	Double-Stranded RNA (RNA, Double Stranded)IBA 03/01/2011 - "Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)." 08/01/2006 - "Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria." 01/01/2006 - "Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. " 01/01/2006 - "A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria." 02/01/2005 - "To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). "
4.	RNA IIBA 02/18/2016 - "Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. " 01/04/2013 - "We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. " 08/01/2010 - "Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities and caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. "
5.	Nonsense Codon (Nonsense Mutation)IBA 12/01/2014 - "A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria." 07/01/2006 - "A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria."
6.	Dichlorodiphenyldichloroethane (DDD)IBA 09/01/2012 - "Within the group of classical reticulate pigment disorders of the skin, Galli-Galli disease (GGD), Dowling-Degos disease (DDD), Kitamura's disease (RPK), Haber's syndrome (HS), and reticulate acropigmentation of Dohi (RAD) are included and distinguished clinically and histopathologically. " 01/01/2023 - "Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli-Franceschetti-Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. "
7.	Arginine (L-Arginine)FDA Link 02/01/2005 - "A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria." 04/11/2022 - "Mutation of this residue to arginine (K744R), which is also associated with several human disorders, including dyschromatosis symmetrica hereditaria (DSH) and some types of cancer, abolished SMURF2-mediated protection of ADAR1p110 from both proteasomal and lysosomal degradation and inactivated ADAR1p110-mediated RNA editing. "
8.	Amino AcidsFDA Link 03/01/2014 - "Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families." 10/01/2018 - "Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1."
9.	5' Untranslated Regions (5' UTR)IBA 01/01/2020 - "Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria."
10.	Protein Isoforms (Isoforms)IBA 09/01/2013 - "The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria."

Therapies and Procedures

1.	Gas Lasers 06/01/2016 - "Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser."
2.	Phototherapy (Light Therapy) 09/01/2013 - "Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy."