MCID: GRS003
MIFTS: 33

Griscelli Syndrome malady

Summaries for Griscelli Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.

MalaCards: Griscelli Syndrome, also known as griscelli disease, is related to griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. An important gene associated with Griscelli Syndrome is MYO5A (myosin VA (heavy chain 12, myoxin)), and among its related pathways are Insulin Processing and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The compounds gtp and glucose have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and nk cells, and related mouse phenotypes are pigmentation and immune system.

Wikipedia:64 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Aliases & Classifications for Griscelli Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference
See all sources

Aliases & Descriptions:

griscelli syndrome 43 21
griscelli disease 43


Related Diseases for Griscelli Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Griscelli Syndrome:



Diseases related to griscelli syndrome

Clinical Features for Griscelli Syndrome

Drugs & Therapeutics for Griscelli Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Griscelli Syndrome

Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome

Search NIH Clinical Center for Griscelli Syndrome

Search CenterWatch for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

Anatomical Context for Griscelli Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Griscelli Syndrome:

33
Bone marrow, Skin, Nk cells, T cells

Animal Models for Griscelli Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Griscelli Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7MLPH, MYO5A, RAB27B, RAB27A
2MP:00053878.2CCL5, UNC13D, MLPH, MYO5A, RAB27A, SLAMF6

Publications for Griscelli Syndrome

Sources:
51PubMed
See all sources

Articles related to Griscelli Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
2
Molecular analysis and clinical findings of Griscelli syndrome patients. (22983416)
2012
3
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. (23436972)
2012
4
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)
2012
5
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
6
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
7
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
8
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (20370853)
2010
9
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
10
Griscelli syndrome type 1: a report of two cases and review of the literature. (19318926)
2009
11
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
12
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (18397837)
2008
13
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
14
Griscelli syndrome and electroencephalography pattern. (18641887)
2008
15
Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. (19127029)
2008
16
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
17
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. (18237235)
2008
18
Griscelli syndrome: a case report. (17786788)
2007
19
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007
20
Griscelli syndrome. (17483661)
2007
21
Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. (17910659)
2007
22
Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. (17085000)
2007
23
NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome. (17255357)
2007
24
Griscelli syndrome: a new phenotype with circumscribed pigment loss? (17498436)
2007
25
Light and scanning electron microscopic examination of hair in Griscelli syndrome. (17676217)
2007
26
Griscelli syndrome. (16844525)
2006
27
Myosin Va mutation in rats is an animal model for the human hereditary neurological disease, Griscelli syndrome type 1. (17185506)
2006
28
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. (15357836)
2004
29
Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)
2004
30
Griscelli syndrome. (15053385)
2004
31
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. (15163896)
2004
32
Griscelli syndrome - a case report. (15297691)
2004
33
Comment on Elejalde syndrome and relationship with Griscelli syndrome. (12522801)
2003
34
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (12446441)
2003
35
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (12897212)
2003
36
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (12531900)
2003
37
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. (12522785)
2003
38
Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. (12122117)
2002
39
Griscelli syndrome types 1 and 2. (12452176)
2002
40
Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. (12098069)
2002
41
Griscelli syndrome: report of a case and review of the literature. (11380929)
2001
42
Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. (11571516)
2001
43
Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis. (11878584)
2001
44
Interleukin-2 mediated restoration of natural killer cell function in a patient with Griscelli syndrome. (11014477)
2000
45
Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (10733681)
2000
46
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). (10993506)
2000
47
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (10835631)
2000
48
Myelodysplastic syndrome associated with Griscelli syndrome. (9716020)
1998
49
Griscelli syndrome: report of three cases. (8597818)
1995
50
Partial albinism with immunodeficiency (Griscelli syndrome). (7996360)
1994

Genetic Variations for Griscelli Syndrome

Expression for genes affiliated with Griscelli Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Griscelli Syndrome

Search GEO for disease gene expression data for Griscelli Syndrome.

Pathways for genes affiliated with Griscelli Syndrome

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database
See all sources

Pathways related to Griscelli Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9MYO5A, RAB27A
2
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
9.8UNC13D, RAB27A
3
Hide members
9.3MYO5A, RAB27B, RAB27A
48.9UNC13D, MLPH, RAB27B, RAB27A

Compounds for genes affiliated with Griscelli Syndrome

Sources:
45Novoseek, 29IUPHAR
See all sources

Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gtp45 2910.3RAB27A, AGFG1, CCL5
2glucose458.7RAB27A, MYO5A, AGFG1, CCL5

GO Terms for genes affiliated with Griscelli Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Griscelli Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:0703829.9UNC13D, RAB27A
2microtubule plus endGO:0353719.8MLPH, MYO5A
3late endosomeGO:0057709.8UNC13D, RAB27A
4photoreceptor outer segmentGO:0017509.8MYO5A, RAB27A
5multivesicular body membraneGO:0325859.7RAB27A, RAB27B
6melanosomeGO:0424709.6MLPH, MYO5A, RAB27A
7recycling endosomeGO:0550379.0RAB11FIP1, UNC13D

Biological processes related to Griscelli Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:0433209.8RAB27A, UNC13D
2protein targetingGO:0066059.8RAB27A, MLPH
3multivesicular body sorting pathwayGO:0719859.6RAB27B, RAB27A
4melanocyte differentiationGO:0303189.6RAB27A, MYO5A, MLPH
5melanosome transportGO:0324029.6RAB27A, MYO5A
6positive regulation of exocytosisGO:0459219.4RAB27A, RAB27B, UNC13D
7exocytosisGO:0068879.3RAB27A, MYO5A, CCL5

Molecular functions related to Griscelli Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rab GTPase bindingGO:0171379.8MYO5A, MLPH
2myosin V bindingGO:0314899.7RAB27A, MLPH
3GDP bindingGO:0190039.3RAB27A, RAB27B

Products for genes affiliated with Griscelli Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Griscelli Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet