ErkrankungMorbus Niemann-Pick, Typ A; Differentialdiagnose

NGS +

• Alias: Acid sphingomyelinase deficiency (SMPD1)
• Allelic: Aplastic anemia (PRF1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Lymphoma, non-Hodgkin (PRF1)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Retinitis pigmentosa 73 (HGSNAT)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Cholesteryl ester storage disease (LIPA)
• Farber lipogranulomatosis (ASAH1)
• GM2-gangliosidosis, several forms (HEXA)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, types I, II, III, IIIC (GBA)
• Glycogen storage disease Ia (G6PC1)
• Glycogen storage diseases Ib + Ic (SLC37A4)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
• Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
• Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
• Hex A pseudodeficiency (HEXA)
• Immune dysregulation + systemic hyperinflammation syndrome (RC3H1)
• Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
• Mucolipidosis III gamma (GNPTG)
• Mucolipidosis IV (MCON)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Is Mucopolysaccharidosis Ih, Ih/s + Is (IDUA)
• Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
• Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
• Mucopolysaccharidosis type IIIC [Sanfilippo C] (HGSNAT)
• Mucopolysaccharidosis type IIID (GNS)
• Niemann-Pick disease, type A + B (SMPD1)
• Niemann-Pick disease, type C2 (NPC2)
• Niemann-Pick disease, types C1 + D (NPC1)
• Sandhoff disease, infantile, juvenile, and adult forms /HEXB)
• Tay-Sachs disease (HEXA)
• Wolman disease (LIPA)