eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital dyserythropoietic anemia | ||||
| Disease ID | 490 |
|---|---|
| Disease | congenital dyserythropoietic anemia |
| Definition | A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. |
| Synonym | anemia congen dyserythropoietic anemia dyserythropoietic congen anemia, congenital dyserythropoietic anemia, congenital dyshematopoietic anemia, dyserythropoietic, congenital anemia, dyserythropoietic, congenital [disease/finding] anemias, congenital dyserythropoietic cda cda - congenital dyserythropoietic anaemia cda - congenital dyserythropoietic anemia cda, nos congen dyserythropoietic anemia congenital dyserythropoietic anaemia congenital dyserythropoietic anemia (disorder) congenital dyserythropoietic anemia, nos congenital dyserythropoietic anemias congenital dyshaematopoietic anaemia congenital dyshematopoietic anemia dyserythropoietic anemia congen dyserythropoietic anemia, congenital dyserythropoietic anemias, congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0002876 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0034050 | pulmonary alveolar proteinosis | 1 C0158995 | congenital anemia | 1 C0002871 | anemia | 1 C0034050 | alveolar proteinosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 84529 | C15orf41 | 4.422 | DISEASES 960 | CD44 | 1.876 | DISEASES 961 | CD47 | 2.317 | DISEASES 965 | CD58 | 1.222 | DISEASES 966 | CD59 | 1.689 | DISEASES 146059 | CDAN1 | 7.139 | DISEASES 3692 | EIF6 | 1.3 | DISEASES 2035 | EPB41 | 3.246 | DISEASES 2623 | GATA1 | 3.228 | DISEASES 2993 | GYPA | 3.247 | DISEASES 3043 | HBB | 2.257 | DISEASES 3047 | HBG1 | 1.916 | DISEASES 9843 | HEPH | 2.152 | DISEASES 3077 | HFE | 1.533 | DISEASES 148738 | HFE2 | 2.541 | DISEASES 3240 | HP | 1.243 | DISEASES 3451 | IFNA17 | 1.582 | DISEASES 3440 | IFNA2 | 1.997 | DISEASES 11253 | MAN1B1 | 1.671 | DISEASES 5034 | P4HB | 1.337 | DISEASES 5313 | PKLR | 2.02 | DISEASES 25797 | QPCT | 1.923 | DISEASES 65010 | SLC26A6 | 2.428 | DISEASES 116369 | SLC26A8 | 3.431 | DISEASES 161497 | STRC | 2.829 | DISEASES 54790 | TET2 | 1.835 | DISEASES 7037 | TFRC | 1.338 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 490 |
|---|---|
| Disease | congenital dyserythropoietic anemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 490 |
|---|---|
| Disease | congenital dyserythropoietic anemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800562 | 11071669 | 3077 | HFE | umls:C0002876 | BeFree | To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia. | 0.000271442 | 2000 | HFE | 6 | 26092913 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 490 |
|---|---|
| Disease | congenital dyserythropoietic anemia |
| Case | (Waiting for update.) |