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Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

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Description

Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

16

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Genes

External Links

  • OMIM

    617021

  • Orphanet

    528091

  • HPO
  • Medgen

    C4310761

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