MCID: GRS003
MIFTS: 24

Griscelli Syndrome malady

Summaries for Griscelli Syndrome

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 32MalaCards
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 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

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference
See all sources

Aliases & Descriptions:

griscelli syndrome 42 21
griscelli disease 42


Related Diseases for Griscelli Syndrome

About this section
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

About this section

Drugs & Therapeutics for Griscelli Syndrome

About this section
Sources:
5CenterWatch, 41NIH 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

About this section

Anatomical Context for Griscelli Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Griscelli Syndrome:

32
Skin

Animal Models for Griscelli Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Griscelli Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7RAB27A, RAB27B, MYO5A, MLPH
2MP:00053878.2UNC13D, MLPH, MYO5A, RAB27A, SLAMF6, CCL5

Publications for Griscelli Syndrome

About this section

Genetic Variations for Griscelli Syndrome

About this section

Expression for genes affiliated with Griscelli Syndrome

About this section
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

About this section
Sources:
53Reactome, 51QIAGEN, 37NCBI 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
9.9RAB27A, MYO5A
2
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
9.8UNC13D, RAB27A
3
Hide members
9.3RAB27A, RAB27B, MYO5A
48.9RAB27A, RAB27B, MLPH, UNC13D

Compounds for genes affiliated with Griscelli Syndrome

About this section
Sources:
44Novoseek, 28IUPHAR
See all sources

Compounds related to Griscelli Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gtp44 2810.3RAB27A, AGFG1, CCL5
2glucose448.7RAB27A, MYO5A, AGFG1, CCL5

GO Terms for genes affiliated with Griscelli Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Griscelli Syndrome

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet