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Diseases
Congenital Dyserythropoietic Anemia
congenital dyserythropoietic anemia
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Congenital Dyserythropoietic Anemia
- Standard Disease Name
- congenital dyserythropoietic anemia
- MeSH Tree
- No data
- ICD-10
- D64.4
Identifiers
- DO ID
- No data
- MeSH ID
- D000742
- OMIM ID
- No data
- UMLS ID
- C0002876
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes.|MSH2017_2016_08_12: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.
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Related Targets
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