MCID: GRS003
MIFTS: 39

Griscelli Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Immune diseases, Blood diseases categories

Summaries for Griscelli Syndrome

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66Wikipedia, 34MalaCards
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Wikipedia:66 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

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 Peptide hormone metabolism and wtCFTR and deltaF508 traffic Late endosome and Lysosome norm and CF . The compounds sodium and gtp have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related mouse phenotypes are pigmentation and immune system.

Aliases & Classifications for Griscelli Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference
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Classifications:



Aliases & Descriptions:

griscelli syndrome 44 22
griscelli disease 44


Related Diseases for Griscelli Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Griscelli Syndrome:



Diseases related to griscelli syndrome

Symptoms for Griscelli Syndrome

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Drugs & Therapeutics for Griscelli Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Griscelli Syndrome

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Anatomical Context for Griscelli Syndrome

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34MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome:

34
Bone, Bone marrow

Animal Models for Griscelli Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9MLPH, MYO5A, RAB27B, RAB27A
2MP:00053878.1MLPH, UNC13D, MYO5A, CCL5, RAB27A, SLAMF6
3MP:00053977.6UNC13D, MYO5A, CCL5, RAB27B, RAB27A, SLAMF6

Publications for Griscelli Syndrome

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53PubMed
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Articles related to Griscelli Syndrome:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Molecular analysis and clinical findings of Griscelli syndrome patients. (22983416)
2012
2
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. (23436972)
2012
3
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)
2012
4
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. (22223973)
2011
5
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
6
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
7
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. (20661159)
2010
8
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
9
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
10
Griscelli syndrome: a model system to study vesicular trafficking. (19243575)
2009
11
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
12
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
13
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (18397837)
2008
14
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
15
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
16
Griscelli syndrome and electroencephalography pattern. (18641887)
2008
17
Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. (19127029)
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
Bilateral basal ganglia involvement in a patient with Griscelli syndrome. (16952471)
2006
26
Griscelli syndrome. (16844525)
2006
27
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
28
Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)
2004
29
Myelodysplastic features in Griscelli syndrome. (15111776)
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: Rab 27a mutation. (15475639)
2004
33
Comment on Elejalde syndrome and relationship with Griscelli syndrome. (12522801)
2003
34
Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. (14581742)
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
Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. (12122117)
2002
38
Griscelli syndrome types 1 and 2. (12452176)
2002
39
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. (12058346)
2002
40
Griscelli syndrome: report of a case and review of the literature. (11380929)
2001
41
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
42
Interleukin-2 mediated restoration of natural killer cell function in a patient with Griscelli syndrome. (11014477)
2000
43
Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl. (10653334)
2000
44
Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (10733681)
2000
45
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (10835631)
2000
46
Myelodysplastic syndrome associated with Griscelli syndrome. (9716020)
1998
47
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. (9486701)
1998
48
Griscelli syndrome: report of three cases. (8597818)
1995
49
High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. (7977308)
1994
50
Partial albinism with immunodeficiency (Griscelli syndrome). (7996360)
1994

Variations for Griscelli Syndrome

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Expression for genes affiliated with Griscelli Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Griscelli Syndrome

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Pathways for genes affiliated with Griscelli Syndrome

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN
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Compounds for genes affiliated with Griscelli Syndrome

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46Novoseek, 25HMDB, 30IUPHAR
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Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium46 2510.3AGFG1, RAB27A, CCL5
2gtp46 3010.0CCL5, RAB27A, AGFG1
3glucose468.9AGFG1, RAB27A, CCL5, MYO5A

GO Terms for genes affiliated with Griscelli Syndrome

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17Gene Ontology
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Cellular components related to Griscelli Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:0703829.9RAB27A, UNC13D
2microtubule plus-endGO:0353719.9MYO5A, MLPH
3photoreceptor outer segmentGO:0017509.9MYO5A, RAB27A
4melanosomeGO:0424709.9RAB27A, MYO5A
5multivesicular body membraneGO:0325859.7RAB27A, RAB27B
6late endosomeGO:0057709.5RAB27A, UNC13D
7recycling endosomeGO:0550379.2RAB11FIP1, UNC13D

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:0433209.9UNC13D, RAB27A
2melanosome transportGO:0324029.9RAB27A, MYO5A
3protein targetingGO:0066059.7RAB27A, MLPH
4multivesicular body sorting pathwayGO:0719859.7RAB27B, RAB27A
5melanocyte differentiationGO:0303189.7RAB27A, MYO5A, MLPH
6exocytosisGO:0068879.6RAB27A, CCL5, MYO5A
7positive regulation of exocytosisGO:0459219.5RAB27A, RAB27B, UNC13D
8cellular protein metabolic processGO:0442679.3RAB27A, MYO5A, PIGB
9protein transportGO:0150318.5MYO5A, RAB27B, RAB11FIP1

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

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  • Antibodies
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Sources for Griscelli Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet