eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dyschromatosis symmetrica hereditaria | ||||
| Disease ID | 550 |
|---|---|
| Disease | dyschromatosis symmetrica hereditaria |
| Definition | A rare, autosomal dominant inherited disorder caused by heterozygous mutation in the DSRAD gene. Most cases have been reported from countries in East Asia. It is characterized by the presence of hyperpigmented and hypopigmented macules on the dorsal aspect of the extremities and face. |
| Synonym | acropigmentation of dohi dsh dsh1 dyschromatosis symmetrica hereditaria 1 familial reticulate acropigmentation of dohi reticulate acropigmentation of dohi symmetric dyschromatosis of the extremities symmetrical dyschromatosis of extremities symmetrical dyschromatosis of extremities (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0406775 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 100 | ADA | 5.573 | DISEASES 103 | ADAR | 7.994 | DISEASES 1908 | EDN3 | 1.581 | DISEASES 1130 | LYST | 2.532 | DISEASES 4948 | OCA2 | 1.945 | DISEASES 5077 | PAX3 | 2.448 | DISEASES 5313 | PKLR | 2.481 | DISEASES 6663 | SOX10 | 2.596 | DISEASES 1861 | TOR1A | 1.012 | DISEASES 7306 | TYRP1 | 1.678 | DISEASES 8565 | YARS | 3.817 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ADAR | 1q21.3 |
| Disease ID | 550 |
|---|---|
| Disease | dyschromatosis symmetrica hereditaria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0007441 | Hyperpigmented/hypopigmented macules HP:0012733 | Macule HP:0001304 | Torsion dystonia HP:0007988 | Macular hypopigmentation HP:0011509 | Macular hyperpigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 550 |
|---|---|
| Disease | dyschromatosis symmetrica hereditaria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0393593 | dystonia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912421 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154601222 | G | A |
| rs121912422 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154588582 | T | A |
| rs121912423 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154597125 | G | T,C,A |
| rs28936680 | 12916015 | 103 | ADAR | umls:C0406775 | UNIPROT | Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. | 0.489500466 | 2003 | ADAR | 1 | 154588668 | A | G |
| rs28936680 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154588668 | A | G |
| rs28936681 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154584993 | A | G |
| rs28936681 | 12916015 | 103 | ADAR | umls:C0406775 | UNIPROT | Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. | 0.489500466 | 2003 | ADAR | 1 | 154584993 | A | G |
| rs387906541 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154601700 | AG | - |
| rs398122822 | NA | 103 | ADAR | umls:C0406775 | CLINVAR | NA | 0.489500466 | NA | ADAR | 1 | 154588125 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001304 | Torsion dystonia | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0007441 | Hyperpigmented/hypopigmented macules | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 550 |
|---|---|
| Disease | dyschromatosis symmetrica hereditaria |
| Case | (Waiting for update.) |