Conditions / Immune
familial hemophagocytic lymphohistiocytosis 1
info · Immune
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
Signs and symptoms
- Hypertonia
- Hemiplegia
- Decreased circulating HDL-C concentration
- Seizure
- Increased total bilirubin
- Hypotonia
- Hypoproteinemia
- Ataxia
- Hepatomegaly
- Infectious encephalitis
Also known as: FHL1; HLH1; HPLH1