Griscelli Syndrome, Type 1

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OMIM 57 214450 Disease Ontology 12 DOID:0060832 ICD10 33 E70.3 MeSH 44 C537301 Orphanet 59 ORPHA79476 MESH via Orphanet 45 C537301

UMLS via Orphanet 74 C1859194 ICD10 via Orphanet 34 E70.3 MedGen 42 C1859194 SNOMED-CT via HPO 69 258211005 29555009 563001 24982008 18655006 201284005 23006000 89031001 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 398151007 398152000 224958001 41581000 56731001 387833009 17944005 55822004 6479008 718122005 247032003 70397008 297993006 60342002 more UMLS 73 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)

MalaCards based summary : Griscelli Syndrome, Type 1, also known as griscelli syndrome type 1, is related to griscelli syndrome and griscelli syndrome, type 2, and has symptoms including seizures An important gene associated with Griscelli Syndrome, Type 1 is MYO5A (Myosin VA), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and Activation of BH3-only proteins. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are nystagmus and diplopia

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

Clinical features from OMIM:

214450

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