Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system immune system |
| gptkbp:characteristic |
recurrent infections
neurological decline light skin hemophagocytic syndrome silvery-gray hair |
| gptkbp:diagnosedBy |
genetic testing
microscopic examination of hair |
| gptkbp:firstDescribed |
1978
Claude Griscelli |
| gptkbp:hasType |
gptkb:Griscelli_syndrome_type_1
Griscelli syndrome type 2 Griscelli syndrome type 3 |
| https://www.w3.org/2000/01/rdf-schema#label |
Griscelli syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
MLPH gene
MYO5A gene RAB27A gene |
| gptkbp:namedAfter |
Claude Griscelli
|
| gptkbp:OMIM |
214450
607624 609227 |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
immunodeficiency
neurological impairment hypopigmentation |
| gptkbp:treatment |
immunosuppressive therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Rab_family
gptkb:Rab_protein |
| gptkbp:bfsLayer |
6
|