MCID: GRS003
MIFTS: 41

Griscelli Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Immune diseases, Blood diseases categories
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Summaries for Griscelli Syndrome

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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 based summary: 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 skin, bone marrow and bone, and related mouse phenotypes are pigmentation and immune system.

Wikipedia:65 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Aliases & Classifications for Griscelli Syndrome

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Griscelli Syndrome, Aliases & Descriptions:

Name: Griscelli Syndrome 42 21
 
Griscelli Disease 42


Classifications:



Related Diseases for Griscelli Syndrome

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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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Drug clinical trials:

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Search NIH Clinical Center for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

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Anatomical Context for Griscelli Syndrome

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MalaCards organs/tissues related to Griscelli Syndrome:

32
Skin, Bone marrow, Bone

Animal Models for Griscelli Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9RAB27A, RAB27B, MYO5A, MLPH
2MP:00053878.1SLAMF6, RAB27A, CCL5, MYO5A, UNC13D, MLPH
3MP:00053977.6UNC13D, MYO5A, CCL5, RAB27B, RAB27A, SLAMF6

Publications for Griscelli Syndrome

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Articles related to Griscelli Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
2
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. (25283056)
2014
3
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. (25046460)
2014
4
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. (24711539)
2014
5
An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)
2014
6
Molecular analysis and clinical findings of Griscelli syndrome patients. (22983416)
2012
7
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. (23436972)
2012
8
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)
2012
9
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. (22223973)
2011
10
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
11
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
12
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. (20661159)
2010
13
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
14
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
15
Griscelli syndrome: a model system to study vesicular trafficking. (19243575)
2009
16
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
17
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (18397837)
2008
18
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
19
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
20
Griscelli syndrome and electroencephalography pattern. (18641887)
2008
21
Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. (19127029)
2008
22
Griscelli syndrome: a case report. (17786788)
2007
23
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007
24
Griscelli syndrome. (17483661)
2007
25
Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. (17910659)
2007
26
Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. (17085000)
2007
27
Bilateral basal ganglia involvement in a patient with Griscelli syndrome. (16952471)
2006
28
Griscelli syndrome. (16844525)
2006
29
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
30
Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)
2004
31
Myelodysplastic features in Griscelli syndrome. (15111776)
2004
32
Griscelli syndrome. (15053385)
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
Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. (14581742)
2003
36
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (12897212)
2003
37
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (12531900)
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
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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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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Compounds for genes affiliated with Griscelli Syndrome

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Sources:
44Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium44 2410.3AGFG1, RAB27A, CCL5
2gtp44 2810.0CCL5, RAB27A, AGFG1
3glucose448.9AGFG1, RAB27A, CCL5, MYO5A

GO Terms for genes affiliated with Griscelli Syndrome

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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
  • Proteins
  • Lysates

Sources for Griscelli Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet