eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sebocystomatosis | ||||
| Disease ID | 842 |
|---|---|
| Disease | sebocystomatosis |
| Definition | A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex. |
| Synonym | cyst, multiple sebaceous cysts, multiple sebaceous hereditary epidermal polycystic disease multiple sebaceous cyst multiple sebaceous cysts multiplex steatocystoma multiplex steatocystomas sebaceous cyst, multiple sebaceous cysts, multiple steatocystoma multiplex steatocystoma multiplex (disorder) steatocystoma multiplex [disease/finding] steatocystoma multiplex disorder steatocystoma multiplices steatocystoma, multiplex steatocystomas, multiplex |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0259771 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0001418 | adenocarcinoma | 1 C0265334 | pachyonychia congenita | 1 C0022679 | cystic kidney | 1 C0152013 | lung adenocarcinoma | 1 C0020757 | ichthyosis | 1 C0022658 | kidney disease | 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) KRT17 | 17q21.2 |
| Disease ID | 842 |
|---|---|
| Disease | sebocystomatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0008064 | Ichthyosis | 1 HP:0000113 | Polycystic kidney dysplasia | 1 HP:0001598 | Koilonychia | 1 HP:0030078 | Lung adenocarcinoma | 1 HP:0004467 | Pit in front of the ear | 1 |
| Disease ID | 842 |
|---|---|
| Disease | sebocystomatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0175704 | leopard syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28928896 | NA | 3872 | KRT17 | umls:C0259771 | CLINVAR | NA | 0.480814326 | NA | KRT17 | 17 | 41624236 | T | G,C |
| rs28928897 | NA | 3872 | KRT17 | umls:C0259771 | CLINVAR | NA | 0.480814326 | NA | KRT17 | 17 | 41624229 | C | T,G |
| rs58730926 | NA | 3872 | KRT17 | umls:C0259771 | CLINVAR | NA | 0.480814326 | NA | KRT17 | 17 | 41624230 | G | A |
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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009720 | Adenoma sebaceum | 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:0012035 | Steatocystoma multiplex | MP:0011940 | decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| Disease ID | 842 |
|---|---|
| Disease | sebocystomatosis |
| Case | (Waiting for update.) |