Disease Information for Griscelli syndrome/GS1/GS2 (15q21)

Clinical Manifestations
Signs & Symptoms
Gray Hair
Gray hair Childhood
Gray hair, premature
Silvery gray hair/child
White Hair
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Gene locus 15q21
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
Griscelli syndrome GS1 GS2 (15q21), Synonym/Elejalde variant sydrome

gene locus 15q21;GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT; PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME; GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE; INHERITANCE;Autosomal recessive ;SKIN, NAILS, HAIR : Skin hypopigmentation; Accumulation of melanosomes in melanocytes ; Silvery-gray hair; Melanin pigment aggregation in hair shafts; NEUROLOGIC : Developmental delay-Hypotonia-Mental retardation; Onset in infancy or early childhood; May be same as Elejalde syndrome Griscelli syndrome type 2 is a similar disorder with characteristic immunological abnormalities; Caused by mutations in the myosin VA gene (MYO5A); Gene map locus 15 q 21; Griscelli syndrome with primary neurologic impairment and without immunologic impairment, referred to as type 1, is caused by mutations in the gene encoding myosin VA (MYO5A); Griscelli syndrome with immune impairment, or Griscelli syndrome type 2, is caused by mutation in the RAB27A gene; Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes; While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation, some show severe neurologic impairment early in life without apparent immune abnormalities;GS1 as comprising hypomelanosis and severe central nervous system dysfunction and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis; it is suggested that Elejalde syndrome in some patients and GS1 represent the same entity; CLINICAL FEATURES: the original patients described manifested signs of an immune dysfunction; GS2: some have mutations in the MYO5A gene hypotonia, marked motor development delay, and mental retardation, without a history of infections or "accelerated phase" characterized by uncontrolled T lymphocyte and macrophage activation; patients thought to have Elejalde syndrome; had silvery hair and profound neurologic dysfunction yet Immune impairment was not found; The age of onset of neurologic signs ranged from 1 month to 11 years; The signs included severe muscular hypotonia, ocular alterations, and seizures; Mental retardation ; Psychomotor development was normal in some but suddenly the patients presented with a regressive neurologic process;In addition to the silver-leaden hair, bronze skin developed after sun exposure; Large granules of melanin unevenly distributed in the hair shaft were observed; recommended that the differential diagnosis include Chediak-Higashi syndrome and Griscelli syndrome;(OMIM reference)


External Links Related to Griscelli syndrome/GS1/GS2 (15q21)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)