loading...| Preferred Name |
Gaucher's disease |
|
| Synonyms |
familial splenic anemia |
|
| Definitions |
autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-8920 |
|
| altLabel |
familial splenic anemia glucosylceramide lipidosis glucocerebrosidosis glucosylceramidase deficiency lipoid histiocytosis (kerasin type) |
|
| cui |
C0017205 |
|
| definition |
autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. |
|
| DID |
1849-8920 |
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/1840-2225 |
|
| Inverse of RO | ||
| notation |
1849-8920 |
|
| prefLabel |
Gaucher's disease |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/1840-2225 |