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

Summaries for Griscelli Syndrome

Sources:
²¹Genetics Home Reference, ⁶³Wikipedia, ³²MalaCards
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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: 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 skin, and related mouse phenotypes are pigmentation and immune system.

Wikipedia:⁶³ Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Aliases & Classifications for Griscelli Syndrome

Sources:
⁴²NIH Rare Diseases, ²¹Genetics Home Reference
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Aliases & Descriptions:

griscelli syndrome ⁴² ²¹

griscelli disease ⁴²

Related Diseases for Griscelli Syndrome

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
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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 21)

id	Related Disease	Score	Top Affiliating Genes
1	griscelli syndrome type 2	30.7	RAB27A, AGFG1, UNC13D
2	hemophagocytic lymphohistiocytosis	30.4	RAB27A, UNC13D
3	chediak-higashi syndrome	30.0	RAB27A, UNC13D
4	griscelli syndrome type 1	10.6
5	albinism	10.4
6	griscelli syndrome type 3	10.4
7	chronic infantile neurological cutaneous articular syndrome	10.2
8	pancytopenia	10.0
9	chromosomal disease	10.0
10	dandy-walker syndrome	10.0
11	atopic dermatitis	10.0
12	obstructive hydrocephalus	10.0
13	dermatitis	10.0
14	hydrocephalus	10.0
15	melanoma	10.0
16	myositis	10.0
17	neurologic diseases	10.0
18	hermansky-pudlak syndrome	10.0	AGFG1
19	choroideremia	10.0	RAB27A, AGFG1
20	piebaldism	10.0	MLPH, MYO5A, RAB27A
21	ipex syndrome	10.0	CCL5, AGFG1, MYO5A, RAB27A

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

Clinical Features for Griscelli Syndrome

Drugs & Therapeutics for Griscelli Syndrome

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Griscelli Syndrome

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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

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	8.7	MLPH, MYO5A, RAB27B, RAB27A
2	immune system phenotype	MP:0005387	8.2	CCL5, UNC13D, MLPH, MYO5A, RAB27A, SLAMF6

Publications for Griscelli Syndrome

Genes related to Griscelli Syndrome

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
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Genes related to Griscelli Syndrome:

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

Products for genes related to Griscelli Syndrome disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	10	10	10
2	LSBio	-	-	10

Genetic Variations for Griscelli Syndrome

Expression for genes affiliated with Griscelli Syndrome

Sources:
¹BioGPS, ¹⁵Gene 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:
⁵³Reactome, ⁵¹QIAGEN, ³⁷NCBI BioSystems Database
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Pathways related to Griscelli Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Insulin Processing⁵³ Hide members Peptide hormone metabolism⁵³	9.9	RAB27A, MYO5A
2	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)	9.8	UNC13D, RAB27A
3	Sertoli-Sertoli Cell Junction Dynamics⁵¹ Hide members Epithelial Tight Junctions⁵¹	9.3	RAB27A, RAB27B, MYO5A
4	Deregulation of Rab and Rab Effector Genes in Bladder Cancer³⁷	8.9	RAB27A, RAB27B, MLPH, UNC13D

Compounds for genes affiliated with Griscelli Syndrome

Sources:
⁴⁴Novoseek, ²⁸IUPHAR
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Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	gtp⁴⁴ ²⁸	10.3	RAB27A, AGFG1, CCL5
2	glucose⁴⁴	8.7	RAB27A, MYO5A, AGFG1, CCL5

GO Terms for genes affiliated with Griscelli Syndrome

Sources:
¹⁶Gene 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	9.8	MLPH, MYO5A
3	late endosome	GO:005770	9.8	RAB27A, UNC13D
4	photoreceptor outer segment	GO:001750	9.8	RAB27A, MYO5A
5	multivesicular body membrane	GO:032585	9.7	RAB27A, RAB27B
6	melanosome	GO:042470	9.6	RAB27A, MYO5A, MLPH
7	recycling endosome	GO:055037	9.0	RAB11FIP1, UNC13D

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	natural killer cell degranulation	GO:043320	9.8	RAB27A, UNC13D
2	protein targeting	GO:006605	9.8	RAB27A, MLPH
3	multivesicular body sorting pathway	GO:071985	9.6	RAB27B, RAB27A
4	melanocyte differentiation	GO:030318	9.6	RAB27A, MYO5A, MLPH
5	melanosome transport	GO:032402	9.6	RAB27A, MYO5A
6	positive regulation of exocytosis	GO:045921	9.4	RAB27A, RAB27B, UNC13D
7	exocytosis	GO:006887	9.3	RAB27A, MYO5A, CCL5