Visit Metagene.de!
Summary
FARBER DISEASE
FARBER LIPOGRANULOMATOSIS LIPOGRANULOMATOSIS CERAMIDASE DEFICIENCY
228000
OMIM = Online Medalian Inheritance of Men
333
8p22

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare
autosomal recessive
symptoms
cherry-red spot on retinal macula
early death
failure to thrive
hepatomegaly (large liver)
hoarse cry
hydrops fetalis
hypotonia
irritability
jaundice
joint swelling
liver involvement or dysfunction
mental retardation
motor retardation
nodules, subcutaneous
onset, infancy
onset, neonatal
pain, bones or joints
psychomotor retardation
seizures
splenomegaly (large spleen)
laboratory finding
Acid ceramidase 190.00950.00decreased activityfibroblasts
Protein normal-increasedcerebrospinal fluidinfancy
Literature
Schenk Bet al.MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfJ Clin Invest10801687-16952001
Francis Jet al.A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuriaNephrol Dial Transplant19112893-28952004
Steinberg DRefsum diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202351-23691995
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012
Lazarow PBMoser HWDisorders of peroxisome biogenesisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2712287-23241995
Johnson JLWadman SKMolybdenum cofactor deficiency and isolated sulfite oxidase deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202271-22831995
van den Heuvel LPet al.Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)Hum Genet1116544-5472002
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012
Kleta Ret al.Renal glucosuria due to SGLT2 mutationsMol Genet Metab82156-582004
Magen Det al.A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduriaKidney Int67134-412005
Horvath RUpdate on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)J Inherit Metab Dis354679-6872012