IllnessMorbus Gaucher, DD hydrops fetalis

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: Acid beta-glucosidase deficiency (GBA1)
• Alias: Gaucher Krankheit (GBA1)
• Alias: Glucocerebrosidase deficiency (GBA1)
• Alias: Lysosomal storage disorder, deficient activity of beta-glucocerebrosidase (GBA1)
• Allelic: Aneurysm, intracranial berry, 12 (THSD1)
• Allelic: Parkinson disease 24, autosomal dominant, susceptibility to (PSAP)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Cholesteryl ester storage disease (LIPA)
• Combined SAP deficiency (PSAP)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Farber lipogranulomatosis (ASAH1)
• GM1-gangliosidosis, type I (GLB1)
• GM1-gangliosidosis, type II (GLB1)
• GM1-gangliosidosis, type III (GLB1)
• Galactosialidosis (CTSA)
• 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)
• Hydrops fetalis, nonimmune + cardiac defects, hemangiomas (THSD1)
• Krabbe disease, atypical (PSAP)
• Lymphatic malformation 13 (THSD1)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• 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 C1 (NPC1)
• Niemann-Pick disease, type D (NPC1)
• Niemann-pick disease, type C2 (NPC2)
• Non-immune hydrops fetalis [GenCC] (THSD1)
• Salla disease (SLC17A5)
• Sialic acid storage disorder, infantile (SLC17A5)
• Sialidosis, type I (NEU1)
• Sialidosis, type II (NEU1)
• Wolman disease (LIPA)