ErkrankungPeroxisomen-Biogenese-Störungen, großes panel

NGS +

Gruppe von AR vererbten Störungen, die die Bildung funktioneller Peroxisomen beeinträchtigen mit sensorineuraler Schwerhörigkeit, Pigmentdegeneration der Netzhaut, multipler Organdysfunktion, psychomotorischer Beeinträchtigung, umfasst die phänotypischen Varianten Zellweger-Syndrom, neonatale Adrenoleukodystrophie, infantile Refsum-Krankheit

• Alias: Infantile Refsum disease
• Alias: Neonatal adrenoleukodystrophy
• Alias: Peroxisomal biogenesis disturbances
• Alias: Peroxisome biogenesis disorder spectrum
• Allelic: Cataract 38, AR (AGK)
• Allelic: MEND syndrome (EBP)
• Allelic: Mitchell syndrome (ACOX1)
• Allelic: Optic atrophy 5 (DNM1L)
• Allelic: Perrault syndrome 1 (HSD17B4)
• Acatalasemia (CAT)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1) D-bifunctional protein deficiency (HSD17B4)
• Alpha-methylacyl-CoA racemase deficiency (AMACR)
• Bile acid synthesis defect, congenital, 4 (AMACR)
• CHILD syndrome (NSDHL)
• CK syndrome (NSDHL)
• Chondrodysplasia punctata, XLD (EBP)
• Chondrodysplasia punctata, XLR (ARSE)
• Chondrodysplasia punctata, XLR (ARSE)
• Dyggve-Melchior-Clausen disease (DYM)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
• Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
• Hyperoxaluria, primary, type 1 (AGXT)
• Hyperoxaluria, primary, type II (GRHPR)
• Hyperoxaluria, primary, type III (HOGA1)
• Krabbe disease (GALC)
• Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
• Metachromatic leukodystrophy (ARSA)
• Mulibrey nanism (TRIM37)
• Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
• Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
• Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
• Peroxisome biogenesis disorder 10B (PEX3)
• Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
• Peroxisome biogenesis disorder 11B (PEX13)
• Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
• Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
• Peroxisome biogenesis disorder 14B (PEX11B)
• Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
• Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
• Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
• Peroxisome biogenesis disorder 2B (PEX5)
• Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
• Peroxisome biogenesis disorder 3B (PEX12)
• Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
• Peroxisome biogenesis disorder 5B (PEX2)
• Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
• Peroxisome biogenesis disorder 6B (PEX10)
• Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
• Peroxisome biogenesis disorder 7B (PEX26)
• Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
• Peroxisome biogenesis disorder 8B (PEX16)
• Peroxisome biogenesis disorder 9B (PEX7)
• Refsum disease (PHYH)
• Retinal dystrophy with leukodystrophy (ACBD5)
• Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Sengers syndrome (AGK)
• Smith-McCort dysplasia (DYM)