eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| disseminated superficial actinic porokeratosis | ||||
| Disease ID | 712 |
|---|---|
| Disease | disseminated superficial actinic porokeratosis |
| Definition | Disseminated superficial actinic porokeratosis (DSAP) is a non-contagious skin condition with apparent genetic origin in the SART3 gene.[1]:533 It most often presents in sun-exposed areas of the body. Some DSAP cases have been reported in patients with acute immune compromised situations, particularly in the elderly. For those with sun damaged skin, the lesions usually begin to appear in the patient's 20s and increase in number and visibility in the 40s or 50s. Commonly, though not always, the number and visibility of lesions is in direct proportion to the amount of sun damage to the affected area. - Wikipedia Reference: https://en.wikipedia.org/wiki/disseminated superficial actinic porokeratosis |
| Synonym | dis sup actnc porokrtsis disseminated superficial actinic porokeratosis (disorder) disseminated superficial actinic porokeratosis (dsap) dsap - disseminated superficial actinic porokeratosis porokeratosis, disseminated superficial actinic |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0265970 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 712 |
|---|---|
| Disease | disseminated superficial actinic porokeratosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 712 |
|---|---|
| Disease | disseminated superficial actinic porokeratosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200044 | Porokeratosis | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 712 |
|---|---|
| Disease | disseminated superficial actinic porokeratosis |
| Case | (Waiting for update.) |