eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| syringocystadenoma papilliferum | ||||
| Disease ID | 916 |
|---|---|
| Disease | syringocystadenoma papilliferum |
| Definition | A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. |
| Synonym | naevus syringocystadenomatosus papilliferus nevus syringocystadenomatosus papilliferus papillary syringadenoma papillary syringadenoma (morphologic abnormality) papillary syringocystadenoma syringocystadenoma papilliferum (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0406803 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0334345 | apocrine adenoma | 3 C0001430 | adenoma | 2 C0002170 | alopecia | 1 C0011636 | dermatophytosis | 1 C0043037 | verrucous lesion | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 387836 | CLEC2A | 3.887 | DISEASES 192668 | CYS1 | 2.832 | DISEASES 2316 | FLNA | 1.368 | DISEASES 2625 | GATA3 | 1.274 | DISEASES 3039 | HBA1 | 1.523 | DISEASES 3122 | HLA-DRA | 2.548 | DISEASES 3451 | IFNA17 | 2.116 | DISEASES 3440 | IFNA2 | 1.043 | DISEASES 3713 | IVL | 1.6 | DISEASES 3880 | KRT19 | 1.908 | DISEASES 3855 | KRT7 | 2.761 | DISEASES 10763 | NES | 1.21 | DISEASES 64840 | PORCN | 3.01 | DISEASES 5727 | PTCH1 | 1.25 | DISEASES 6273 | S100A2 | 2.678 | DISEASES 6275 | S100A4 | 1.59 | DISEASES 6277 | S100A6 | 2.06 | DISEASES 6278 | S100A7 | 2.325 | DISEASES 12 | SERPINA3 | 1.39 | DISEASES 6663 | SOX10 | 1.934 | DISEASES 7316 | UBC | 2.191 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 916 |
|---|---|
| Disease | syringocystadenoma papilliferum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0200034 | Papule HP:0001482 | Subcutaneous nodule HP:0008066 | Abnormal blistering of the skin HP:0002209 | Sparse scalp hair HP:0010815 | Nevus sebaceous |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 916 |
|---|---|
| Disease | syringocystadenoma papilliferum |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0009663 | condyloma acuminatum |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002209 | Sparse scalp hair | MP:0011195 | increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
| 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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002209 | Sparse scalp hair | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010815 | Nevus sebaceous | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| 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 |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| Disease ID | 916 |
|---|---|
| Disease | syringocystadenoma papilliferum |
| Case | (Waiting for update.) |