IllnessMorbus Gaucher, differential diagnosis

NGS +

[Sanger]

Gaucher disease patients do not produce enough glucocerebrosidase, so glucocerebrosides accumulate in so-called Gaucher cells in the liver, spleen, lungs and bone marrow. Bone damage can be particularly painful; in rare cases Gaucher cells can also accumulate in the brain and lead to the more severe form of the disease. Three forms of Gaucher disease are distinguished. Type 1 is the most common form in the western world (90%), usually with a normal lifespan. Symptoms can start at any age with anaemia, bruising, bleeding, pain and growth disturbances. Type 2 disease is very rare and characterised by damage to the central nervous system, which is usually fatal in the first two to four years of life. Although type 2 occurs worldwide, it is very rare. Type 3 is rare in the West, more common in Asia and in a province of Sweden. In this type, the neurological symptoms develop slowly, usually in childhood, and continue into adulthood. Gaucher disease is transmitted autosomal recessively. Virtually all sequence changes in the GBA gene are point mutations that can be fully detected.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1269/

• Alias: Lysosomal storage disorder, deficient activity of beta-glucocerebrosidase
• Allelic: Combined SAP deficiency (PSAP)
• Allelic: Krabbe disease, atypical (PSAP)
• Allelic: Lewy body dementia, susceptibility to (GBA1)
• Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• DD für Osteonekrose: Morbus Legg-Calvé-Perthes (COL2A1)
• Farber lipogranulomatosis (ASAH1)
• GM1-gangliosidosis, type I, II, III (GLB1)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, perinatal lethal (GBA1)
• Gaucher disease, type I (GBA1)
• Gaucher disease, type II (GBA1)
• Gaucher disease, type III (GBA1)
• Gaucher disease, type IIIC (GBA1)
• Mucolipidosis II alpha/beta (GNPTAB)
• Mucolipidosis III alpha/beta (GNPTAB)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis VII (GUSB)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Niemann-Pick disease, type A (SMPD1)
• Niemann-Pick disease, type B (SMPD1)
• Niemann-Pick disease, type C1 (NPC1)
• Niemann-Pick disease, type D (NPC1)
• Niemann-pick disease, type C2 (NPC2)
• Salla disease (SLC17A5)
• Sialic acid storage disorder, infantile (SLC17A5)
• Wolman disease (CESD)