Griscelli Syndrome, Type 1 (GS1)

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Disease Ontology 12 DOID:0060832 OMIM® 57 214450 OMIM Phenotypic Series 57 PS214450 MeSH 44 C537301 MESH via Orphanet 45 C537301 ICD10 via Orphanet 33 E70.3

UMLS via Orphanet 71 C1859194 Orphanet 58 ORPHA79476 MedGen 41 C1859194 SNOMED-CT via HPO 68 128613002 17944005 18655006 201284005 224958001 228156007 23006000 246545002 247032003 247578003 24982008 258211005 29555009 297993006 313307000 387833009 398151007 398152000 41581000 55822004 563001 56731001 60342002 6479008 70397008 718122005 84757009 85102008 89031001 91138005 91175000 more UMLS 70 C1859194

OMIM® : ⁵⁷ Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (607624), is caused by mutation in the RAB27A gene (603868). Griscelli syndrome type 3 (609227), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; 606526) or MYO5A genes. 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 (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse. Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and 3,2:Bahadoran et al. (2003, 2003) suggested that Elejalde syndrome (256710) in some patients and GS1 represent the same entity. (214450) (Updated 05-Apr-2021)

MalaCards based summary : Griscelli Syndrome, Type 1, also known as griscelli syndrome type 1, is related to griscelli syndrome, type 2 and griscelli syndrome, and has symptoms including seizures An important gene associated with Griscelli Syndrome, Type 1 is MYO5A (Myosin VA), and among its related pathways/superpathways is Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include eye, bone marrow and skin, and related phenotypes are nystagmus and diplopia

Disease Ontology : ¹² A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.

UniProtKB/Swiss-Prot : ⁷² Griscelli syndrome 1: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities.

Clinical features from OMIM®:

214450 (Updated 05-Apr-2021)

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