This type shows moderate to severe neurological effect in childhood.
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.
This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry.
This type usually shows severe neurological effect in the first year of life.
Synonyms: Gaucher Disease Type 3 Deficiency Disease, Glucocerebrosidase Deficiency, Glucocerebrosidase Gaucher Disease Type 1 Lipidoses, Glucosyl Cerebroside Kerasin Lipoidoses Gaucher Disease Type 2 Gaucher Disease, Noncerebral Juvenile Chronic Gaucher Disease Cerebroside Lipidosis Syndromes thesaurismoses, Kerasin Disease, Gauchers Type 1 Gaucher Disease Glucosylceramidase Deficiency Lipoid Histiocytoses (Kerasin Type) Glucosylceramide Beta-Glucosidase Deficiency Histiocytosis, Lipoid (Kerasin Type) Disease, Non-Neuronopathic Gaucher Deficiency, GBA Kerasin thesaurismosis Non-Neuronopathic Gaucher Disease Gaucher Disease, Acute Neuronopathic Type Lipidosis Syndromes, Cerebroside Lipoidoses, Kerasin Gaucher Disease, Type III Gauchers Diseases Diseases, Glucocerebrosidase Deficiency Diseases, Gauchers Cerebroside Lipidosis, Glucosyl Gauchers Disease Gaucher Disease, Infantile Deficiencies, Glucocerebrosidase Gaucher Disease, Infantile Cerebral Neuronopathic Gaucher Disease Subacute Neuronopathic Gaucher Disease Gaucher Disease, Non-Neuronopathic Disease, Glucocerebrosidase Deficiency Type 3 Gaucher Disease Gaucher Disease, Non-Neuronopathic Form Acid beta-Glucosidase Deficiency Disease Glucosylceramide Lipidosis Histiocytosis, Kerasin Acid beta-Glucosidase Deficiency Glucocerebrosidosis Histiocytoses, Lipoid (Kerasin Type) Lipidoses, Glucosylceramide Glucosyl Cerebroside Lipidosis Kerasin Histiocytoses Lipidosis, Glucosylceramide GBA Deficiencies Disease, Gaucher's Syndrome, Gaucher Glucocerebrosidase Deficiencies Gaucher Syndrome Lipidosis, Glucosyl Cerebroside Glucocerebrosidase Deficiency Disease GBA Deficiency Kerasin Lipoidosis Syndrome, Cerebroside Lipidosis Gaucher Disease, Juvenile Gaucher Disease, Type II Disease, Chronic Gaucher Lipoidosis, Kerasin thesaurismosis, Kerasin Gaucher Disease, Juvenile and Adult, Cerebral Gaucher Disease Glucosylceramide Beta-Glucosidase Deficiency Disease Gaucher Disease, Non Neuronopathic Form Syndromes, Cerebroside Lipidosis Disease, Neuronopathic Gaucher Disease, Infantile Gaucher Cerebroside Lipidosis Syndrome Gaucher Disease, Subacute Neuronopathic Form Kerasin thesaurismoses Lipoid Histiocytosis (Kerasin Type) Deficiencies, GBA Non Neuronopathic Gaucher Disease Gaucher Disease, Type 1 Gaucher Disease, Type 2 Gaucher Disease, Type 3 Gaucher's Disease Splenomegaly, Gaucher Type 2 Gaucher Disease Disease, Gaucher Gaucher Disease, Acute Neuronopathic Gaucher Disease, Subacute Neuronopathic Type Juvenile Gaucher Disease Gaucher Splenomegaly Glucocerebrosidase Deficiency Disease, Juvenile Gaucher Gaucher Disease, Type I Glucosylceramide Lipidoses Glucosyl Cerebroside Lipidoses Acute Neuronopathic Gaucher Disease Gaucher Disease, Chronic Neuronopathic Type Kerasin Histiocytosis Histiocytoses, Kerasin Infantile Gaucher Disease Gaucher Disease, Neuronopathic Lipidosis Syndrome, Cerebroside Gaucher Disease, Chronic Deficiency Diseases, Glucocerebrosidase Glucocerebrosidase Deficiency Diseases Glucocerebrosidoses Cerebroside Lipidoses, Glucosyl
Term information
2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999
2000(1966)