Gaucher Disease

Gauchers sjukdom

Svensk definition

En autosomalt recessiv sjukdom förorsakad av brist på enzymet glukosylceramidas, vilket medför ansamling av glykosylceramid huvudsakligen i mononukleära fagocyter. De typiska Gauchercellerna, glykosfingolipidfyllda histiocyter, tränger undan normala celler i benmärg och invärtes organ vilket orsakar skelettförsämring, hepatosplenomegali och organsvikt. Det finns flera undergrupper baserade på närvaro och svårighetsgrad av neurologisk inblandning.

Engelsk definition

An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Disease, Gaucher Glucocerebrosidase Deficiency Deficiencies, Glucocerebrosidase Deficiency, Glucocerebrosidase Glucocerebrosidase Deficiencies Glucocerebrosidase Deficiency Disease Deficiency Disease, Glucocerebrosidase Deficiency Diseases, Glucocerebrosidase Disease, Glucocerebrosidase Deficiency Diseases, Glucocerebrosidase Deficiency Glucocerebrosidase Deficiency Diseases Gaucher Splenomegaly Splenomegaly, Gaucher Gaucher Syndrome Syndrome, Gaucher Gauchers Disease Disease, Gauchers Diseases, Gauchers Gauchers Diseases Glucocerebrosidosis Glucocerebrosidoses Glucosyl Cerebroside Lipidosis Cerebroside Lipidoses, Glucosyl Cerebroside Lipidosis, Glucosyl Glucosyl Cerebroside Lipidoses Lipidoses, Glucosyl Cerebroside Lipidosis, Glucosyl Cerebroside Glucosylceramide Lipidosis Glucosylceramide Lipidoses Lipidoses, Glucosylceramide Lipidosis, Glucosylceramide Kerasin Histiocytosis Histiocytoses, Kerasin Histiocytosis, Kerasin Kerasin Histiocytoses Kerasin Lipoidosis Kerasin Lipoidoses Lipoidoses, Kerasin Lipoidosis, Kerasin Kerasin thesaurismosis Kerasin thesaurismoses thesaurismoses, Kerasin thesaurismosis, Kerasin Lipoid Histiocytosis (Kerasin Type) Histiocytoses, Lipoid (Kerasin Type) Histiocytosis, Lipoid (Kerasin Type) Lipoid Histiocytoses (Kerasin Type) Glucosylceramidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Disease Acid beta-Glucosidase Deficiency Acid beta-Glucosidase Deficiency Disease Glucosylceramide Beta-Glucosidase Deficiency Cerebroside Lipidosis Syndrome Cerebroside Lipidosis Syndromes Lipidosis Syndrome, Cerebroside Lipidosis Syndromes, Cerebroside Syndrome, Cerebroside Lipidosis Syndromes, Cerebroside Lipidosis Gaucher's Disease Disease, Gaucher's Gaucher Disease, Type 3 Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile Disease, Juvenile Gaucher Juvenile Gaucher Disease Gaucher Disease, Juvenile and Adult, Cerebral Type 3 Gaucher Disease Gaucher Disease, Subacute Neuronopathic Form Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Type III Neuronopathic Gaucher Disease Subacute Neuronopathic Gaucher Disease Gaucher Disease Type 3 Gaucher Disease, Neuronopathic Disease, Neuronopathic Gaucher Gaucher Disease, Type 1 Gaucher Disease Type 1 Gaucher Disease, Chronic Type 1 Gaucher Disease Gaucher Disease, Noncerebral Juvenile Gaucher Disease, Type I GBA Deficiency Deficiencies, GBA Deficiency, GBA GBA Deficiencies Non-Neuronopathic Gaucher Disease Disease, Non-Neuronopathic Gaucher Gaucher Disease, Non-Neuronopathic Non Neuronopathic Gaucher Disease Chronic Gaucher Disease Disease, Chronic Gaucher Gaucher Disease, Non-Neuronopathic Form Gaucher Disease, Non Neuronopathic Form Gaucher Disease, Type 2 Gaucher Disease Type 2 Gaucher Disease, Acute Neuronopathic Type 2 Gaucher Disease Gaucher Disease, Infantile Disease, Infantile Gaucher Gaucher Disease, Infantile Cerebral Gaucher Disease, Type II Infantile Gaucher Disease Acute Neuronopathic Gaucher Disease Gaucher Disease, Acute Neuronopathic Type