Congenital dyserythropoietic anemia type 4
- Synonyms
- CDA, TYPE IV; Congenital dyserythropoietic anemia, type IV
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
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
- Circulating nucleated red blood cells
Circulating nucleated red blood cells
- MedGen UID: 1785393
- Concept ID: C5539477
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Decreased hemoglobin concentration
Decreased hemoglobin concentration
- MedGen UID: 1670936
- Concept ID: C4732750
- Finding: Finding
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
- Increased RBC distribution width
Increased RBC distribution width
- MedGen UID: 1630967
- Concept ID: C0948014
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Persistence of hemoglobin F
Persistence of hemoglobin F
- MedGen UID: 68693
- Concept ID: C0239941
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Poikilocytosis
Poikilocytosis
- MedGen UID: 67451
- Concept ID: C0221281
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reduced hematocrit
Reduced hematocrit
- MedGen UID: 1630955
- Concept ID: C0744727
- 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
- 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 haptoglobin level
Reduced haptoglobin level
- MedGen UID: 1686017
- Concept ID: C5209264
- Finding: Finding
Abnormality of metabolism/homeostasis
- Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia
- MedGen UID: 82786
- Concept ID: C0268306
- Finding: Disease or Syndrome
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 cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Short stature
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