eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| reticular dysgenesia | ||||
| Disease ID | 1139 |
|---|---|
| Disease | reticular dysgenesia |
| Definition | A rare severe combined immunodeficiency disorder characterized by congenital agranulocytosis, lymphoid tissue and thymic tissue hypoplasia, and lymphopenia. Both cellular and humoral immunities are absent. |
| Synonym | aleukocytosis congenital aleukia de vaal disease devaal disease generalised haematopoietic hypoplasia generalized hematopoietic hypoplasia hematopoietic hypoplasia, generalized immunoerythromyeloid hypoplasia reticular dysgenesis reticular dysgenesis (disorder) scid - severe combined immunodeficiency, neutropaenia and thrombocytopaenia severe combined immunodeficiency with leukopenia severe combined immunodeficiency, neutropaenia and thrombocytopaenia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0272167 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:10) |
| Locus | (Waiting for update.) |
| Disease ID | 1139 |
|---|---|
| Disease | reticular dysgenesia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0004315 | IgG deficiency HP:0005541 | Congenital agranulocytosis HP:0000777 | Thymic hypoplasia HP:0008161 | Absent leukocyte alkaline phosphatase HP:0001888 | Lymphocytopenia HP:0005523 | Lymphoproliferative disorder HP:0012133 | Erythroid hypoplasia HP:0005354 | Absent cellular immunity |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1139 |
|---|---|
| Disease | reticular dysgenesia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| AK2 | NM_001199199.1: c.671-1G>T | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853206 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33036828 | T | C |
| rs267606643 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33014526 | T | C |
| rs267606644 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33013353 | A | T |
| rs267606645 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33013345 | G | A |
| rs267606646 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33013204 | T | A |
| rs267606647 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33036804 | C | T,A |
| rs267606648 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33021616 | G | T,A |
| rs387906581 | NA | 204 | AK2 | umls:C0272167 | CLINVAR | NA | 0.481085767 | NA | AK2 | 1 | 33024543 | A | - |
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:0004315 | IgG deficiency | MP:0002493 | increased IgG level | greater than normal immunoglobulin class G level |
| HP:0012133 | Erythroid hypoplasia | MP:0000600 | liver hypoplasia | underdevelopment or reduced size of the liver, usually due to a reduced number of cells, |
| HP:0000777 | Abnormality of the thymus | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000777 | Abnormality of the thymus | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005541 | Congenital agranulocytosis | MP:0012336 | decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci |
| HP:0012133 | Erythroid hypoplasia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005523 | Lymphoproliferative disorder | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0004315 | IgG deficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1139 |
|---|---|
| Disease | reticular dysgenesia |
| Case | (Waiting for update.) |