eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| severe combined immunodeficiency, x-linked | ||||
| Disease ID | 1346 |
|---|---|
| Disease | severe combined immunodeficiency, x-linked |
| Definition | Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. |
| Synonym | cidx combined immunodeficiency, x linked combined immunodeficiency, x-linked imd4 imd6 immunodeficiency 4 immunodeficiency 6 immunodeficiency disease, x-linked immunodeficiency diseases, x linked combined immunodeficiency diseases, x-linked immunodeficiency diseases, x-linked combined immunodeficiency syndrome, x-linked immunodeficiency syndromes, x-linked immunodeficiency, x-linked combined scid - x-linked severe combined immunodeficiency scid, x linked scid, x-linked scids, x-linked scidx scidx1 severe combined immunodeficiency, x linked severe combined immunodeficiency, x-linked, t cell negative, b cell positive, nk cell negative severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative syndromes, x-linked immunodeficiency thymic epithelial hypoplasia x linked combined immunodeficiency x linked combined immunodeficiency diseases x linked immunodeficiency disease x linked immunodeficiency syndrome x linked scid x linked severe combined immunodeficiency x-linked combined immunodeficiencies x-linked combined immunodeficiency x-linked combined immunodeficiency diseases x-linked combined immunodeficiency diseases [disease/finding] x-linked immunodeficiency disease x-linked immunodeficiency diseases x-linked immunodeficiency syndrome x-linked immunodeficiency syndromes x-linked lymphopaenic agammaglobulinaemia x-linked lymphopenic agammaglobulinemia x-linked scid x-linked scids x-linked severe combined immunodeficiency x-linked severe combined immunodeficiency (disorder) x-linked severe combined immunodeficiency [ambiguous] x-scid xcid xscid xscid - x-linked severe combined immunodeficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1279481 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1346 |
|---|---|
| Disease | severe combined immunodeficiency, x-linked |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002240 | Enlarged liver HP:0000988 | Exanthem HP:0000778 | Thymus hypoplasia HP:0009098 | Chronic oral candidiasis HP:0002841 | Recurrent fungal infections HP:0007274 | Recurrent bacterial meningitis HP:0004432 | Agammaglobulinaemia HP:0002028 | Chronic diarrhea HP:0004430 | Severe combined immunodeficiency HP:0001508 | Weight faltering HP:0002090 | Pneumonia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1346 |
|---|---|
| Disease | severe combined immunodeficiency, x-linked |
| 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:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111033617 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG;CXorf65 | X | 71108599 | C | T |
| rs111033619 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110980 | A | T |
| rs111033620 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110617 | C | T |
| rs111033621 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110292 | A | T |
| rs111033622 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110615 | A | G |
| rs137852507 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110603 | T | G,A |
| rs137852508 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG;CXorf65 | X | 71108336 | G | A |
| rs137852509 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG;CXorf65 | X | 71108278 | G | T |
| rs137852511 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110506 | A | G |
| rs193922346 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110689 | C | A |
| rs193922347 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110644 | T | C |
| rs193922348 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71110295 | A | G |
| rs193922349 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71109323 | A | G |
| rs193922350 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71109275 | C | T |
| rs587776729 | NA | 3561 | IL2RG | umls:C1279481 | CLINVAR | NA | 0.378663476 | NA | IL2RG | X | 71109282 | - | CCAATGCTG |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000778 | Hypoplasia of the thymus | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000778 | Hypoplasia of the thymus | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004430 | Severe combined immunodeficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002841 | Recurrent fungal infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009098 | Chronic oral candidiasis | MP:0013592 | small thymus cortex | decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| HP:0004432 | Agammaglobulinemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002090 | Pneumonia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007274 | Recurrent bacterial meningitis | MP:0013592 | small thymus cortex | decreased size of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes |
| 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 | 1346 |
|---|---|
| Disease | severe combined immunodeficiency, x-linked |
| Case | (Waiting for update.) |