eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| porokeratotic eccrine ostial and dermal duct nevus | ||||
| Disease ID | 1543 |
|---|---|
| Disease | porokeratotic eccrine ostial and dermal duct nevus |
| Definition | A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. |
| Synonym | linear eccrine naevi with comedones linear eccrine nevi with comedones linear eccrine nevus with comedones porokeratotic eccrine duct and hair follicle naevus porokeratotic eccrine duct and hair follicle nevus porokeratotic eccrine ostial and dermal duct naevus porokeratotic eccrine ostial and dermal duct nevus (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0473579 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0020757 | ichthyosis | 1 C0022568 | keratitis | 1 C0006663 | calcinosis | 1 C0334082 | epidermal nevus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) GJB2 | 13q12.11 |
| Disease ID | 1543 |
|---|---|
| Disease | porokeratotic eccrine ostial and dermal duct nevus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0003761 | Calcinosis | 1 HP:0008064 | Ichthyosis | 1 HP:0000365 | Hearing impairment | 1 HP:0010816 | Epidermal nevus | 1 HP:0000491 | Corneal inflammation | 1 |
| Disease ID | 1543 |
|---|---|
| Disease | porokeratotic eccrine ostial and dermal duct nevus |
| Manually Symptom | (Waiting for update.) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894408 | 22011219 | 2706 | GJB2 | umls:C0473579 | BeFree | This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. | 0.120542884 | 2012 | GJB2 | 13 | 20189548 | C | G,A |
| rs72561723 | 25692760 | 2706 | GJB2 | umls:C0473579 | BeFree | A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus. | 0.120542884 | 2015 | GJB2 | 13 | 20189448 | 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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1543 |
|---|---|
| Disease | porokeratotic eccrine ostial and dermal duct nevus |
| Case | (Waiting for update.) |