eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| porokeratosis | ||||
| Disease ID | 471 |
|---|---|
| Disease | porokeratosis |
| Definition | A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. |
| Synonym | porokeratosis (disorder) porokeratosis [disease/finding] porokeratosis, nos |
| Orphanet | |
| DOID | |
| UMLS | C0162839 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0011849 | diabetes mellitus | 2 C0011847 | diabetes | 2 C0037274 | skin diseases | 1 C0024299 | lymphoma | 1 C0019158 | hepatitis | 1 C0007113 | rectal cancer | 1 C0032461 | polycythemia | 1 C0949506 | porokeratosis of mibelli | 1 C0001339 | acute pancreatitis | 1 C0235974 | pancreatic carcinoma | 1 C0023646 | lichen planus | 1 C0033847 | pseudoxanthoma elasticum | 1 C0037274 | skin disease | 1 C0007114 | skin cancer | 1 C0014859 | esophageal cancer | 1 C0032463 | polycythemia rubra vera | 1 C0007137 | squamous cell carcinoma | 1 C0346054 | verruciform xanthoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:29) 121549 | ASCL4 | 4.172 | DISEASES 488 | ATP2A2 | 3.847 | DISEASES 27032 | ATP2C1 | 1.438 | DISEASES 820 | CAMP | 1.052 | DISEASES 1363 | CPE | 1.727 | DISEASES 100289462 | DEFB4B | 2.385 | DISEASES 1870 | E2F2 | 2.072 | DISEASES 2224 | FDPS | 1.78 | DISEASES 2312 | FLG | 3.378 | DISEASES 221937 | FOXK1 | 2.419 | DISEASES 1647 | GADD45A | 1.547 | DISEASES 2706 | GJB2 | 1.022 | DISEASES 55970 | GNG12 | 4.047 | DISEASES 23421 | ITGB3BP | 3.956 | DISEASES 3713 | IVL | 4.168 | DISEASES 25818 | KLK5 | 2.32 | DISEASES 3853 | KRT6A | 2.564 | DISEASES 4014 | LOR | 2.98 | DISEASES 84930 | MASTL | 3.214 | DISEASES 8736 | MYOM1 | 3.604 | DISEASES 257194 | NEGR1 | 2.627 | DISEASES 10654 | PMVK | 4.054 | DISEASES 11137 | PWP1 | 4.32 | DISEASES 6278 | S100A7 | 2.866 | DISEASES 63910 | SLC17A9 | 5.259 | DISEASES 23347 | SMCHD1 | 3.103 | DISEASES 7062 | TCHH | 2.037 | DISEASES 7296 | TXNRD1 | 2.071 | DISEASES 9671 | WSCD2 | 5.358 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 471 |
|---|---|
| Disease | porokeratosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000962 | Hyperkeratosis HP:0004334 | Dermal atrophy HP:0006739 | Squamous cell carcinoma of the skin HP:0000992 | Cutaneous photosensitivity HP:0000989 | Pruritus HP:0001000 | Abnormality of skin pigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0008404 | Dystrophic nails | 2 HP:0000819 | Diabetes mellitus | 2 HP:0002665 | Lymphoma | 1 HP:0001901 | Abnormally shaped erythrocytes | 1 HP:0001114 | Fatty deposits on eyelids | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0001735 | Acute pancreatitis | 1 HP:0030731 | Carcinoma | 1 HP:0012115 | Liver inflammation | 1 |
| Disease ID | 471 |
|---|---|
| Disease | porokeratosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 471 |
|---|---|
| Disease | porokeratosis |
| Case | (Waiting for update.) |