Griscelli Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Griscelli Syndrome

Sources:
²²Genetics Home Reference, ⁶⁴Wikipedia, ³²MalaCards
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Genetics Home Reference:²² 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:⁶⁴ Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Aliases & Classifications for Griscelli Syndrome

Sources:
⁴²NIH Rare Diseases, ²²Genetics Home Reference
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Griscelli Syndrome, Aliases & Descriptions:

Name: Griscelli Syndrome ⁴² ²²

Griscelli Disease ⁴²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases, Immune diseases, Blood diseases

Related Diseases for Griscelli Syndrome

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
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Diseases in the Griscelli Syndrome Type 2 family:

griscelli syndrome	Griscelli Syndrome Type 1
Griscelli Syndrome Type 3

Diseases related to Griscelli Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)

id	Related Disease	Score	Top Affiliating Genes
1	griscelli syndrome type 2	31.3	AGFG1, RAB27A, UNC13D
2	hemophagocytic lymphohistiocytosis	30.5	UNC13D, RAB27A
3	chediak-higashi syndrome	30.3	RAB27A, UNC13D
4	melanoma	29.7	AGFG1, SLAMF6, RAB27A, MYO5A
5	griscelli syndrome type 1	10.7
6	griscelli syndrome type 3	10.5
7	albinism	10.4
8	chronic infantile neurological cutaneous articular syndrome	10.4
9	hematopoietic stem cell transplantation	10.3
10	choroideremia	10.1	AGFG1, RAB27A
11	piebaldism	10.1	RAB27A, MYO5A, MLPH
12	hydrocephalus	10.1
13	lymphomatoid granulomatosis	10.1
14	myelodysplastic syndromes	10.1
15	obstructive hydrocephalus	10.1
16	atopic dermatitis	10.1
17	dermatitis	10.1
18	myositis	10.1
19	neurologic diseases	10.1
20	albinism immunodeficiency	10.1
21	silvery hair syndrome	10.1
22	pancytopenia	10.0
23	hypotonia	10.0
24	ipex syndrome	9.8	MYO5A, CCL5, RAB27A, AGFG1

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

Symptoms for Griscelli Syndrome

Drugs & Therapeutics for Griscelli Syndrome

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome

Search NIH Clinical Center for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

Anatomical Context for Griscelli Syndrome

Sources:
³²MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome:

³²

Skin, Bone marrow, Bone

Animal Models for Griscelli Syndrome or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.9	RAB27A, RAB27B, MYO5A, MLPH
2	immune system phenotype	MP:0005387	8.1	SLAMF6, RAB27A, CCL5, MYO5A, UNC13D, MLPH
3	hematopoietic system phenotype	MP:0005397	7.6	UNC13D, MYO5A, CCL5, RAB27B, RAB27A, SLAMF6

Publications for Griscelli Syndrome

Sources:
⁵¹PubMed
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Articles related to Griscelli Syndrome:

(show top 50) (show all 77)

id	Title	Authors	Year
1	Cerebellar involvement of Griscelli syndrome type 2. (25315806)	IA9ikay S.	2014
2	Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. (25283056)	YA+lmaz M.... Sanal O.	2014
3	A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. (25046460)	Kaur S.... Virdi S.	2014
4	Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. (24711539)	Saini A.G.... Singhi P.	2014
5	An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)	Singh A.... Tesi B.	2014
6	Molecular analysis and clinical findings of Griscelli syndrome patients. (22983416)	Durmaz A.... Ozkinay C.	2012
7	Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. (23436972)	Mahalingashetti P.B.... Padhy S.	2012
8	Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)	Love P.B.... Atwater A.R.	2012
9	Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. (22223973)	Reddy R.R.... Hymavathi C.h.	2011
10	Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)	Szczawinska-Poplonyk A.... Langfort R.	2011
11	Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)	Born A.P.... Vissing J.	2010
12	Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. (20661159)	Al-Idrissi E.... Basile G.d.e. .S.	2010
13	Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)	Vincent L.M.... Huizing M.	2010
14	Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)	Rossi A.... Calvieri S.	2009
15	Griscelli syndrome: a model system to study vesicular trafficking. (19243575)	Van Gele M.... Lambert J.	2009
16	A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)	Pachlopnik Schmid J.... de Saint Basile G.	2008
17	A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (18397837)	Westbroek W.... Gahl W.A.	2008
18	Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)	Mamishi S.... Parvaneh N.	2008
19	Griscelli syndrome type 2: a rare and lethal disorder. (18403584)	Masri A.... Hamamy H.	2008
20	Griscelli syndrome and electroencephalography pattern. (18641887)	Vieira-Karuta S.C.... Liberalesso P.B.	2008
21	Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. (19127029)	KirzioA9lu Z.... Altun A.C.	2008
22	Griscelli syndrome: a case report. (17786788)	Mehdizadeh M.... Zamani G.	2007
23	Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)	Tabatabaie P.... Parvaneh N.	2007
24	Griscelli syndrome. (17483661)	Emanuel P.O.... Phelps R.G.	2007
25	Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. (17910659)	KAPse O.... Tezcan I.	2007
26	Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. (17085000)	Rajadhyax M.... Tyagi A.	2007
27	Bilateral basal ganglia involvement in a patient with Griscelli syndrome. (16952471)	Ashrafi M.R.... Heris J.A.	2006
28	Griscelli syndrome. (16844525)	Malhotra A.K.... Ramam M.	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)	Westbroek W.... Naeyaert J.M.	2004
30	Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)	Dave S.... Thappa D.M.	2004
31	Myelodysplastic features in Griscelli syndrome. (15111776)	Dolman K.M.... Wulffraat N.M.	2004
32	Griscelli syndrome. (15053385)	Rath S.... Kumar V.	2004
33	Comment on Elejalde syndrome and relationship with Griscelli syndrome. (12522801)	Bahadoran P.... de Saint-Basile G.	2003
34	Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (12446441)	Menasche G.... de Saint Basile G.	2003
35	Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. (14581742)	Dinakar C.... Harshad S.R.	2003
36	Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (12897212)	Menasche G.... de Saint Basile G.	2003
37	Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (12531900)	Bahadoran P.... Ballotti R.	2003
38	Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. (12122117)	Barral D.C.... Seabra M.C.	2002
39	Griscelli syndrome types 1 and 2. (12452176)	MAcnaschAc G.... de Saint Basile G.	2002
40	Griscelli syndrome: report of a case and review of the literature. (11380929)	KurugAPl Z.... Ozkinay C.	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)	Schuster F.... Belohradsky B.H.	2001
42	Interleukin-2 mediated restoration of natural killer cell function in a patient with Griscelli syndrome. (11014477)	Plebani A.... Moretta L.	2000
43	Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl. (10653334)	Baumeister F.A.... Belohradsky B.H.	2000
44	Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (10733681)	Lambert J.... Messiaen L.	2000
45	Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (10835631)	Menasche G.... de Saint Basile G.	2000
46	Myelodysplastic syndrome associated with Griscelli syndrome. (9716020)	Cetin M.... GAPA9A1A9 S.	1998
47	Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. (9486701)	Mancini A.J.... Paller A.S.	1998
48	Griscelli syndrome: report of three cases. (8597818)	GAPA9A1A9 S.... SaatAsi I.	1995
49	High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. (7977308)	Gurgey A.... Caglar M.	1994
50	Partial albinism with immunodeficiency (Griscelli syndrome). (7996360)	Klein C.... Griscelli C.	1994

Genes related to Griscelli Syndrome

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
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Genes related to Griscelli Syndrome:

- Elite gene

id	Symbol	Description	Score	Implication
1	MYO5A	myosin VA (heavy chain 12, myoxin)	21.24	GeneCards inferred via : Summaries, Publications, Disorders (show sections)
2	RAB27A	RAB27A, member RAS oncogene family	19.22	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
3	MLPH	melanophilin	17.22	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
4	UNC13D	unc-13 homolog D (C. elegans)	15.05	GeneCards inferred via : Disorders (show sections)
5	CCL5	chemokine (C-C motif) ligand 5	13.02	GeneCards inferred via : Publications (show sections)
6	AGFG1	ArfGAP with FG repeats 1	11.05	GeneCards inferred via : Publications, Disorders (show sections)
7	RAB27B	RAB27B, member RAS oncogene family	8.97	GeneCards inferred via : Publications (show sections)
8	SLAMF6	SLAM family member 6	6.97	GeneCards inferred via : Publications (show sections)
9	RAB11FIP1	RAB11 family interacting protein 1 (class I)	4.97	GeneCards inferred via : Publications (show sections)
10	PIGB	phosphatidylinositol glycan anchor biosynthesis, class B	2.97	GeneCards inferred via : Publications (show sections)

Products for genes related to Griscelli Syndrome disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	10	-	10	10
2	Novus Biologicals	10	8	10	-

Variations for Griscelli Syndrome

Expression for genes affiliated with Griscelli Syndrome

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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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:
⁴⁹PathCards, ⁵⁴Reactome, ³⁷NCBI BioSystems Database, ⁵⁹Thomson Reuters, ⁵²QIAGEN
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Pathways related to Griscelli Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Peptide hormone metabolism⁵⁴ Show member pathways Glycoprotein hormones⁵⁴ thyroid hormone biosynthesis³⁷ Insulin Processing⁵⁴ Metabolism of Angiotensinogen to Angiotensins⁵⁴ Synthesis, Secretion, and Deacylation of Ghrelin⁵⁴ Peptide hormone biosynthesis⁵⁴	9.9	RAB27A, MYO5A
2	wtCFTR and deltaF508 traffic Late endosome and Lysosome norm and CF ⁵⁹	9.8	UNC13D, RAB27A
3	Sertoli-Sertoli Cell Junction Dynamics⁵² Show member pathways Germ Cell-Sertoli Cell Junction Dynamics⁵² Epithelial Tight Junctions⁵²	9.3	RAB27A, RAB27B, MYO5A
4	Deregulation of Rab and Rab Effector Genes in Bladder Cancer³⁷	8.9	RAB27A, RAB27B, UNC13D, MLPH

Compounds for genes affiliated with Griscelli Syndrome

Sources:
⁴⁴Novoseek, ²⁵HMDB, ²⁹IUPHAR
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Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	sodium⁴⁴ ²⁵	10.3	AGFG1, RAB27A, CCL5
2	gtp⁴⁴ ²⁹	10.0	CCL5, RAB27A, AGFG1
3	glucose⁴⁴	8.9	AGFG1, RAB27A, CCL5, MYO5A

GO Terms for genes affiliated with Griscelli Syndrome

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

id	Name	GO ID	Score	Top Affiliating Genes
1	exocytic vesicle	GO:070382	9.9	RAB27A, UNC13D
2	microtubule plus-end	GO:035371	9.9	MYO5A, MLPH
3	photoreceptor outer segment	GO:001750	9.9	MYO5A, RAB27A
4	melanosome	GO:042470	9.9	RAB27A, MYO5A
5	multivesicular body membrane	GO:032585	9.7	RAB27A, RAB27B
6	late endosome	GO:005770	9.5	RAB27A, UNC13D
7	recycling endosome	GO:055037	9.2	RAB11FIP1, UNC13D

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

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	natural killer cell degranulation	GO:043320	9.9	UNC13D, RAB27A
2	melanosome transport	GO:032402	9.9	RAB27A, MYO5A
3	protein targeting	GO:006605	9.7	RAB27A, MLPH
4	multivesicular body sorting pathway	GO:071985	9.7	RAB27B, RAB27A
5	melanocyte differentiation	GO:030318	9.7	RAB27A, MYO5A, MLPH
6	exocytosis	GO:006887	9.6	RAB27A, CCL5, MYO5A
7	positive regulation of exocytosis	GO:045921	9.5	RAB27A, RAB27B, UNC13D
8	cellular protein metabolic process	GO:044267	9.3	RAB27A, MYO5A, PIGB
9	protein transport	GO:015031	8.5	MYO5A, RAB27B, RAB11FIP1