eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chilblain lupus | ||||
| Disease ID | 1026 |
|---|---|
| Disease | chilblain lupus |
| Synonym | chbl1 chilblain lupus 1 chilblain lupus erythematosus chilblain lupus erythematosus (disorder) lupus pernio lupus pernio, nos sarcoidosis, lupus pernio type sarcoidosis, lupus pernio type (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0024145 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 4283 | CXCL9 | 1.364 | DISEASES 3456 | IFNB1 | 1.501 | DISEASES 3563 | IL3RA | 1.848 | DISEASES 3716 | JAK1 | 2.57 | DISEASES 115004 | MB21D1 | 2.671 | DISEASES 4599 | MX1 | 1.569 | DISEASES 8544 | PIR | 2.497 | DISEASES 5867 | RAB4A | 2.85 | DISEASES 340061 | TMEM173 | 4.137 | DISEASES 7133 | TNFRSF1B | 1.518 | DISEASES 11277 | TREX1 | 7.114 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1026 |
|---|---|
| Disease | chilblain lupus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0003493 | Elevated antinuclear antibody HP:0001597 | Abnormality of the nail HP:0200042 | Skin ulcer HP:0002829 | Arthralgias |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1026 |
|---|---|
| Disease | chilblain lupus |
| Manually Symptom | (Waiting for update.) |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908117 | 17440703 | 9156 | EXO1 | umls:C0024145 | BeFree | In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 encoding the 3'-5'repair exonuclease 1 in affected individuals of the family with chilblain lupus. | 0.000542884 | 2007 | TREX1 | 3 | 48466707 | G | A |
| rs121908117 | 18805785 | 11277 | TREX1 | umls:C0024145 | BeFree | Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation activity of TREX1WT enzyme, providing a likely explanation for the dominant phenotype of these TREX1 mutant alleles in AGS and FCL. | 0.362714419 | 2008 | TREX1 | 3 | 48466707 | G | A |
| rs78846775 | 24616097 | 11277 | TREX1 | umls:C0024145 | BeFree | Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenotypes associated with the clinical disorders familial chilblain lupus and Aicardi-Goutières syndrome. | 0.362714419 | 2014 | TREX1 | 3 | 48467253 | G | A,T |
| rs78846775 | 18805785 | 11277 | TREX1 | umls:C0024145 | BeFree | Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation activity of TREX1WT enzyme, providing a likely explanation for the dominant phenotype of these TREX1 mutant alleles in AGS and FCL. | 0.362714419 | 2008 | TREX1 | 3 | 48467253 | G | A,T |
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:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003493 | Antinuclear antibody positivity | MP:0004762 | increased anti-double stranded DNA antibody level | increase in the level of antibodies that recognize double stranded DNA |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003493 | Antinuclear antibody positivity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001597 | Abnormality of the nail | 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 |
| Disease ID | 1026 |
|---|---|
| Disease | chilblain lupus |
| Case | (Waiting for update.) |