RGD Reference Report - Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. - Rat Genome Database

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Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

Authors: Miyamura, Y  Suzuki, T  Kono, M  Inagaki, K  Ito, S  Suzuki, N  Tomita, Y 
Citation: Miyamura Y, etal., Am J Hum Genet. 2003 Sep;73(3):693-9. Epub 2003 Aug 11.
RGD ID: 1559268
Pubmed: PMID:12916015   (View Abstract at PubMed)
PMCID: PMC1180697   (View Article at PubMed Central)
DOI: DOI:10.1086/378209   (Journal Full-text)

Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dyschromatosis symmetrica hereditaria  IAGP 1559268 RGD 
dyschromatosis symmetrica hereditaria  ISOADAR (Homo sapiens)1559268; 1559268 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Adar  (adenosine deaminase, RNA-specific)

Genes (Mus musculus)
Adar  (adenosine deaminase, RNA-specific)

Genes (Homo sapiens)
ADAR  (adenosine deaminase RNA specific)


Additional Information