GS1
MCID: GRS013
MIFTS: 46
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Griscelli Syndrome, Type 1 (GS1)
Categories:
Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Griscelli Syndrome, Type 1:
Characteristics:Orphanet epidemiological data:59
griscelli syndrome type 1
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or early childhood may be same entity as elejalde syndrome see also griscelli syndrome type 2 for a similar disorder with characteristic immunologic abnormalities and griscelli syndrome type 3 for a similar disorder without neurologic or immunologic abnormalities HPO:32
griscelli syndrome, type 1:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases Immune diseases
ICD10:
34
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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 Epstein-Barr virus infection and Small cell lung cancer. Affiliated tissues include skin, bone and bone marrow, 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 : 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. |
Diseases in the Griscelli Syndrome family:
Diseases related to Griscelli Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 1:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:214450Human phenotypes related to Griscelli Syndrome, Type 1:59 32 (show all 21)
UMLS symptoms related to Griscelli Syndrome, Type 1:seizures GenomeRNAi Phenotypes related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Griscelli Syndrome, Type 1:46
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Interventional clinical trials:
Cochrane evidence based reviews: griscelli syndrome type 1 |
MalaCards organs/tissues related to Griscelli Syndrome, Type 1:41
Skin,
Bone,
Bone Marrow,
Eye
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Articles related to Griscelli Syndrome, Type 1:
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ClinVar genetic disease variations for Griscelli Syndrome, Type 1:6
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Search
GEO
for disease gene expression data for Griscelli Syndrome, Type 1.
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Cellular components related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:
Molecular functions related to Griscelli Syndrome, Type 1 according to GeneCards Suite gene sharing:
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