eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| paraneoplastic pemphigus | ||||
| Disease ID | 1158 |
|---|---|
| Disease | paraneoplastic pemphigus |
| Definition | Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes. - Wikipedia Reference: https://en.wikipedia.org/wiki/paraneoplastic pemphigus |
| Synonym | pemphigus paraneoplastic |
| Orphanet | |
| ICD10 | |
| UMLS | C1112570 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:21) C0006271 | bronchiolitis | 3 C0006272 | bronchiolitis obliterans | 3 C0024299 | lymphoma | 3 C0024301 | follicular lymphoma | 2 C1261473 | sarcoma | 2 C0019829 | hodgkin lymphoma | 2 C0279626 | esophageal squamous cell carcinoma | 1 C0023434 | chronic lymphocytic leukaemia | 1 C0024305 | non-hodgkin's lymphoma | 1 C0024305 | non-hodgkin lymphoma | 1 C0019829 | hodgkin's lymphoma | 1 C0007137 | squamous cell carcinoma | 1 C0334254 | lymphoepithelioma | 1 C0023448 | lymphocytic leukaemia | 1 C0079731 | b cell lymphoma | 1 C0879615 | stromal tumour | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0030807 | pemphigus | 1 C0238198 | gastrointestinal stromal tumour | 1 C1260325 | follicular dendritic cell sarcoma | 1 C0334121 | inflammatory myofibroblastic tumour | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1158 |
|---|---|
| Disease | paraneoplastic pemphigus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0100522 | Thymoma HP:0012191 | B-cell lymphoma HP:0200097 | Oral mucosal blisters HP:0000155 | Oral ulcer HP:0100242 | Sarcoma HP:0200041 | Skin erosion HP:0008066 | Abnormal blistering of the skin |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002664 | Neoplasia | 3 HP:0011950 | Bronchiolitis | 3 HP:0012189 | Hodgkin disease | 3 HP:0011946 | Constrictive bronchiolitis | 3 HP:0002665 | Lymphoma | 3 HP:0100242 | Sarcoma | 2 HP:0012191 | B-cell lymphoma | 1 HP:0030731 | Carcinoma | 1 HP:0100583 | Corneal perforation | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0002960 | Autoimmune condition | 1 HP:0012539 | Non-Hodgkin lymphoma | 1 |
| Disease ID | 1158 |
|---|---|
| Disease | paraneoplastic pemphigus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) C2103589 | constrictive bronchiolitis obliterans C1512508 | human herpesvirus 8 infection C1260325 | follicular dendritic cell sarcoma C1145670 | respiratory failure C0162848 | lichenoid dermatitis C0038362 | stomatitis C0025202 | malignant melanoma C0023827 | liposarcoma C0006272 | bronchiolitis obliterans C0002170 | alopecia |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012191 | B-cell lymphoma | MP:0009317 | increased follicular lymphoma incidence | higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large |
| HP:0008066 | Abnormal blistering of the skin | 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:0000155 | Oral ulcer | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0200097 | Oral mucosal blisters | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| HP:0012191 | B-cell lymphoma | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0200041 | Skin erosion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 1158 |
|---|---|
| Disease | paraneoplastic pemphigus |
| Case | (Waiting for update.) |