eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ditra | ||||
| Disease ID | 1409 |
|---|---|
| Disease | ditra |
| Definition | An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash. |
| Synonym | deficiency of the interleukin-36 receptor antagonist familial generalized pustular psoriasis generalised pustular psoriasis generalized psoriasis pustular generalized pustular psoriasis generalized pustular psoriasis (disorder) gpp interleukin 36 receptor antagonist deficiency psoriasis 14, pustular psorp psors14 pustular psoriasis, generalized |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0343055 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0022661 | end-stage renal disease | 1 C0011603 | dermatitis | 1 C0030805 | pemphigoid | 1 C0022658 | renal disease | 1 C0033860 | psoriasis | 1 C0006663 | calcinosis | 1 C0001197 | acrodermatitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) IL36RN | 2q14.1 |
| Disease ID | 1409 |
|---|---|
| Disease | ditra |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1409 |
|---|---|
| Disease | ditra |
| 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:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs144478519 | 23428889 | 26525 | IL36RN | umls:C0343055 | BeFree | Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. | 0.363257302 | 2012 | IL36RN | 2 | 113062547 | C | A,T |
| rs144478519 | 21839423 | 26525 | IL36RN | umls:C0343055 | UNIPROT | Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. | 0.363257302 | 2011 | IL36RN | 2 | 113062547 | C | A,T |
| rs144478519 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113062547 | C | A,T |
| rs148755083 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113060943 | T | C |
| rs151325121 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113062150 | C | T |
| rs187015338 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113060926 | A | G |
| rs199932303 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113062513 | C | T |
| rs281875212 | 22521419 | 79092 | CARD14 | umls:C0343055 | BeFree | Some variants were only seen in a single case, and these included putative pathogenic mutations (c.424G>A [p.Glu142Lys] and c.425A>G [p.Glu142Gly]) and the generalized-pustular-psoriasis mutation, c.413A>C (p.Glu138Ala); these three mutations lie within the coiled-coil domain of CARD14. | 0.000271442 | 2012 | CARD14 | 17 | 80183987 | G | A,C |
| rs281875213 | 22521419 | 79092 | CARD14 | umls:C0343055 | BeFree | Some variants were only seen in a single case, and these included putative pathogenic mutations (c.424G>A [p.Glu142Lys] and c.425A>G [p.Glu142Gly]) and the generalized-pustular-psoriasis mutation, c.413A>C (p.Glu138Ala); these three mutations lie within the coiled-coil domain of CARD14. | 0.000271442 | 2012 | CARD14 | 17 | 80183988 | A | G |
| rs281875214 | 22521419 | 79092 | CARD14 | umls:C0343055 | BeFree | Some variants were only seen in a single case, and these included putative pathogenic mutations (c.424G>A [p.Glu142Lys] and c.425A>G [p.Glu142Gly]) and the generalized-pustular-psoriasis mutation, c.413A>C (p.Glu138Ala); these three mutations lie within the coiled-coil domain of CARD14. | 0.000271442 | 2012 | CARD14 | 17 | 80183976 | A | C |
| rs387906914 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113060902 | T | C |
| rs387906914 | 24019411 | 26525 | IL36RN | umls:C0343055 | BeFree | Genetic analyses showed a homozygous mutation in the IL36RN gene (L27P), which represents the same mutation recently described in DITRA patients. | 0.363257302 | 2013 | IL36RN | 2 | 113060902 | T | C |
| rs397514629 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113062577 | C | G,T |
| rs397514630 | NA | 26525 | IL36RN | umls:C0343055 | CLINVAR | NA | 0.363257302 | NA | IL36RN | 2 | 113059466 | C | T |
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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1409 |
|---|---|
| Disease | ditra |
| Case | (Waiting for update.) |