Klinische FragestellungHyperferritinämie[-Katarakt-Syndrom]/Neuroferrtinopathie, Differentialdiagnose

NGS +

• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Hereditary Hyperferritinemia-Cataract syndromc
• Allelic: Hyperferritinemia, hereditary, without iron overload
• Allelic: L-Ferritin deficiency
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• Allelic: Neuroferritinopathy
• Allelic: Parkinson disease 14, AR (PLA2G6)
• Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
• Allelic: Parkinson disease, susceptibility to (TBP)
• Cerebellar ataxia (CP)
• Choreoacanthocytosis (VPS13A)
• HARP [Hypoprebetalipoproteinemia/Acanthocytosis/Retinitis pigm./Pallidal degener.] syndrome (PANK2)
• Hemochromatosis, type 4 (SLC40A1)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Huntington disease (HTT)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypoceruloplasminemia, hereditary (CP)
• Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Machado-Joseph disease (ATXN3)
• McLeod syndrome +/- chronic granulomatous disease (XK)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Niemann-Pick disease, type C1 (NPC1)
• Niemann-Pick disease, type C2 (NPC2)
• Niemann-Pick disease, type D (NPC1)
• Parkinson disease, juvenile, type 2 (PRKN)
• Spinocerebellar ataxia 17 (TBP)
• Spinocerebellar ataxia 2 (ATXN2)