eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schnitzler syndrome | ||||
| Disease ID | 507 |
|---|---|
| Disease | schnitzler syndrome |
| Definition | An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate. |
| Synonym | schnitzler syndrome (disorder) schnitzler syndrome [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0524988 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0024419 | macroglobulinemia | 1 C0017665 | membranous nephropathy | 1 C0027726 | nephrotic syndrome | 1 C0042109 | urticaria | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 283 | ANG | 1.557 | DISEASES 284 | ANGPT1 | 1.359 | DISEASES 959 | CD40LG | 4.293 | DISEASES 1380 | CR2 | 1.158 | DISEASES 64806 | IL25 | 2.615 | DISEASES 9235 | IL32 | 1.747 | DISEASES 3932 | LCK | 1.367 | DISEASES 114548 | NLRP3 | 4.593 | DISEASES 6283 | S100A12 | 1.8 | DISEASES 6288 | SAA1 | 1.13 | DISEASES 7124 | TNF | 1.201 | DISEASES 7133 | TNFRSF1B | 1.084 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 507 |
|---|---|
| Disease | schnitzler syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0000988 | Skin rash HP:0001025 | Urticaria HP:0002716 | Lymphadenopathy HP:0001744 | Splenomegaly HP:0001974 | Leukocytosis HP:0002633 | Vasculitis HP:0002829 | Arthralgia HP:0003326 | Myalgia HP:0002665 | Lymphoma HP:0001369 | Arthritis HP:0011001 | Increased bone mineral density HP:0012378 | Fatigue HP:0002653 | Bone pain HP:0003496 | Increased IgM level HP:0009830 | Peripheral neuropathy HP:0000989 | Pruritus HP:0001945 | Fever HP:0002240 | Hepatomegaly HP:0200034 | Papule HP:0012733 | Macule HP:0001903 | Anemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 507 |
|---|---|
| Disease | schnitzler syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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: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:0003496 | Increased IgM level | MP:0009356 | decreased liver triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003496 | Increased IgM level | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 507 |
|---|---|
| Disease | schnitzler syndrome |
| Case | (Waiting for update.) |