eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyper igd syndrome | ||||
| Disease ID | 1584 |
|---|---|
| Disease | hyper igd syndrome |
| Definition | Hyper IgD syndrome (HIDS) is a rare inflammatory genetic disorder characterized by periodic episodes or attacks of fever associated with additional symptoms including joint pain (arthralgia), skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. HIDS is associated with decreased activity of the enzyme mevalonate kinase (MVK). Although many factors can set off a characteristic HIDS episode (e.g., minor infections), most episodes occur without a distinct precipitating event. HIDS is inherited as an autosomal recessive trait. - NORD Reference: NORD |
| Synonym | hyper igd syndromes hyper-igd syndrome hyper-igd syndromes hyperimmunoglobulin d with periodic fever hyperimmunoglobulin d with periodic fever (finding) hyperimmunoglobulinemia d hyperimmunoglobulinemia d and periodic fever syndrome periodic fever - dutch type periodic fever, dutch type syndrome, hyper-igd |
| Orphanet | |
| OMIM | |
| UMLS | C0398691 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1584 |
|---|---|
| Disease | hyper igd syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1584 |
|---|---|
| Disease | hyper igd syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0403416 | crescentic glomerulonephritis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| MVK | p.V377I | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| MVK | p.V377I*37 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
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 |
| rs104895295 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK;MMAB | 12 | 109574881 | A | C |
| rs104895300 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109581523 | C | T |
| rs104895301 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109586098 | G | A |
| rs104895304 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109591275 | T | C |
| rs104895317 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109595142 | G | A |
| rs104895319 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109595070 | G | A |
| rs104895322 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK;MMAB | 12 | 109574894 | - | T |
| rs104895323 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109581444 | - | G |
| rs104895334 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK;MMAB | 12 | 109574838 | CTACTGGTGTCTGCTCCGG | - |
| rs104895373 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109581440 | - | C |
| rs11544299 | 11313769 | 4598 | MVK | umls:C0398691 | UNIPROT | On the basis of this study, we propose that the diagnostic screen of MVK in HIDS should be first directed on V377I and I268T mutations. | 0.368067311 | 2001 | MVK;MMAB | 12 | 109574880 | C | A |
| rs121917790 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109581517 | C | T |
| rs28934897 | NA | 4598 | MVK | umls:C0398691 | CLINVAR | NA | 0.368067311 | NA | MVK | 12 | 109596515 | G | A |
| rs28934897 | 10369261 | 4598 | MVK | umls:C0398691 | UNIPROT | Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis. | 0.368067311 | 1999 | MVK | 12 | 109596515 | 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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1584 |
|---|---|
| Disease | hyper igd syndrome |
| Case | (Waiting for update.) |