Anemia, congenital dyserythropoietic, type 1a
- Synonyms
- DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hannah Tamary
- Orly Dgany
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Endopolyploidy on chromosome studies of bone marrow
Endopolyploidy on chromosome studies of bone marrow
- MedGen UID: 871151
- Concept ID: C4025624
- Finding: Finding
Abnormal cellular phenotype
- Endopolyploidy on chromosome studies of bone marrow
- Abnormality of blood and blood-forming tissues
- Anemia of inadequate production
Anemia of inadequate production
- MedGen UID: 95937
- Concept ID: C0392708
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Anisocytosis
Anisocytosis
- MedGen UID: 66371
- Concept ID: C0221278
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Bite cells
Bite cells
- MedGen UID: 699462
- Concept ID: C1276265
- Finding: Cell
Abnormality of blood and blood-forming tissues
- Erythroid hyperplasia
Erythroid hyperplasia
- MedGen UID: 4536
- Concept ID: C0014800
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hemolytic anemia
Hemolytic anemia
- MedGen UID: 1916
- Concept ID: C0002878
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Macrocytic dyserythropoietic anemia
Macrocytic dyserythropoietic anemia
- MedGen UID: 870729
- Concept ID: C4025183
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Poikilocytosis
Poikilocytosis
- MedGen UID: 67451
- Concept ID: C0221281
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reticulocytosis
Reticulocytosis
- MedGen UID: 60089
- Concept ID: C0206160
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Schistocytosis
Schistocytosis
- MedGen UID: 576247
- Concept ID: C0344386
- Finding: Laboratory or Test Result
Abnormality of blood and blood-forming tissues
- Anemia of inadequate production
- Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Syndactyly
- Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Hyperbilirubinemia
- MedGen UID: 86321
- Concept ID: C0311468
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate dehydrogenase concentration
Increased circulating lactate dehydrogenase concentration
- MedGen UID: 1377250
- Concept ID: C4477095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced level of N-acetylglucosaminyltransferase II
Reduced level of N-acetylglucosaminyltransferase II
- MedGen UID: 867361
- Concept ID: C4021725
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
- Abnormality of prenatal development or birth
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Hydrops fetalis
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Growth abnormality
- Mild postnatal growth retardation
Mild postnatal growth retardation
- MedGen UID: 320640
- Concept ID: C1835580
- Finding: Finding
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Mild postnatal growth retardation
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