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Results 1 - 10 of 33 for Congenital anemia
  1. Congenital dyserythropoietic anemia 
    Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder ... condition. Anemia, dyserythropoietic, congenital CDA ... Congenital dyserythropoietic anemia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../congenital-dyserythropoietic-anemia - Genetics
  2. Diamond-Blackfan anemia 
    ... pure red cell aplasia DBA Erythrogenesis imperfecta Hypoplastic congenital anemia Inherited erythroblastopenia Pure hereditary red cell aplasia Genetic ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  3. CDAN1 gene 
    ... CDAN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. Most of these mutations change ... Condition CDA-I CDA1 CDAI CDAN1_HUMAN codanin congenital dyserythropoietic anemia, type I DLT PRO1295 Tests of CDAN1 PubMed ...
    https://medlineplus.gov/genetics/gene/cdan1 - Genetics
  4. Majeed syndrome 
    ... of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of ... pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.Most people ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  5. Hereditary spherocytosis 
    ... not show signs and symptoms of the condition. Congenital spherocytic hemolytic anemia Congenital spherocytosis HS Spherocytic anemia Spherocytosis, type 1 ...
    https://medlineplus.gov/genetics/condition/hereditary-spherocytosis - Genetics
  6. SEC23B gene 
    ... SEC23B gene have been identified in people with congenital dyserythropoietic anemia (CDA) type II. Most of these mutations change ... SEC23B NCBI Gene ClinVar Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? ...
    https://medlineplus.gov/genetics/gene/sec23b - Genetics
  7. TRNT1 deficiency 
    ... related immunodeficiency TRNT1-related immunodeficiency+ Genetic Testing Registry: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  8. TRNT1 gene 
    ... Holcik M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  9. X-linked sideroblastic anemia 
    ... hereditary sideroblastic Anemia, sex-linked hypochromic sideroblastic ANH1 Congenital sideroblastic anaemia Erythroid 5-aminolevulinate synthase deficiency Hereditary iron-loading anemia X chromosome-linked sideroblastic anemia X-linked pyridoxine- ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... bifunctional protein deficiency Dihydrolipoamide dehydrogenase deficiency Familial dysautonomia Congenital hyperinsulinism , also called familial hyperinsulinism Familial Mediterranean fever Fanconi anemia GRACILE syndrome Gaucher disease Glycogen storage disease type ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
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