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Griscelli syndrome type 2

Synonyms
Griscelli syndrome with hemophagocytic syndrome; Partial albinism and immunodeficiency syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Griscelli syndrome type 2 (GS2) is an autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Patients also have immunologic abnormalities with or without neurologic impairment (summary by Menasche et al., 2000). Some GS2 patients have been reported in whom central nervous system manifestations are the first presentation (Rajadhyax et al., 2007, Masri et al., 2008; Mishra et al., 2014; Lee et al., 2017). For a discussion of phenotypic and genetic heterogeneity of Griscelli syndrome, see Griscelli syndrome type 1 (GS1; 214450). [from OMIM]

Available tests

59 tests are in the database for this condition.

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Clinical tests (59 available)

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  • Also known as: GS2, HsT18676, RAB27, RAM, RAB27A
    Summary: RAB27A, member RAS oncogene family

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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