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Summary
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
FHL1
267700
OMIM = Online Medalian Inheritance of Men
540
9q21.3-q22

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • bone marrow transplantation
  • corticosteroids
  • immunochemotherapy
  • supportive/symptomatic therapy
rare
autosomal recessive
symptoms
ascites
bleeding tendencies, hemorrhages
fever
hepatomegaly (large liver)
hyperammonemia
lactic acidosis
liver failure
onset, infancy
onset, neonatal
pancytopenia
Soluble interleukin 2 receptor (sCD25)
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Coagulopathy/Coagulation factors decreased
Triglycerides increasedserum
Ferritin increasedserum
Fibrinogen decreasedserum
Literature
Sekoguchi Eet al.A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fastingJ Biol Chem2784038796-8022003
Wasniewska M,et al.Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 geneEur J Endocrinol144159-622001
Portrat-Doyen Set al.Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 geneJ Clin Endocrinol Metab83114156-41611998
Podebrad Fet al.Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometryClin Chim Acta292093-1052000
Hsi GCox DWA comparison of the mutation spectra of Menkes disease and Wilson diseaseHum Genet1142165-1722004
Brownlee JM,et al.Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of HawkinsinuriaBiochemistry49337218-72262010
Item CB,et al.Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia IIIMol Genet Metab914379-3832007
Roe CRet al.Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensationMol Genet Metab65135-431998
Thodi G,et al.Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatmentJ Pediatr Endocrinol Metab29115-202015
Kuribayashi Iet al.A missense mutation (GGC435Gly-->AGCSer) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronismHorm Res605255-2602003