GS2
MCID: GRS008
MIFTS: 47

Griscelli Syndrome Type 2 (GS2) malady

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

Summaries for Griscelli Syndrome Type 2

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Griscelli syndrome type 2 (also known as \"Partial albinism with immunodeficiency\") is a rare autosomal... more...

MalaCards: Griscelli Syndrome Type 2, also known as griscelli syndrome, type 2, is related to piebaldism and hemophagocytic lymphohistiocytosis, and has symptoms including lung/pulmonary infiltrates, meningitis/meningeal syndrome and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Griscelli Syndrome Type 2 is RAB27A (RAB27A, member RAS oncogene family), and among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The compounds gdp and gtp have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related mouse phenotype immune system.

Description from OMIM:46 607624

Aliases & Classifications for Griscelli Syndrome Type 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

griscelli syndrome type 2 42 20 22
griscelli syndrome, type 2 46 44 60
hypopigmentation - immunodeficiency with or without neurologic impairment 48
griscelli syndrome with hemophagocytic syndrome 42
albinoidism, oculocutaneous, autosomal dominant 60
partial albinism and immunodeficiency syndrome 42
griscelli-pruniéras syndrome type 2 48
griscelli disease type 2 48
paid syndrome 42
gs2 42


External Ids:

OMIM46 607624
MESH via Orphanet35 C537302
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C1868679

Related Diseases for Griscelli Syndrome Type 2

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Griscelli Syndrome Type 2:



Diseases related to griscelli syndrome type 2

Clinical Features for Griscelli Syndrome Type 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

607624

Clinical synopsis from OMIM:

607624

Symptoms:

48 (show all 21)
  • lung/pulmonary infiltrates
  • meningitis/meningeal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • bone marrow failure/pancytopenia
  • fever/chilling
  • splenomegaly
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • purpura/petichiae
  • premature greying of hair
  • decreased hair pigmentation/hypopigmentation of hair
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal recessive inheritance
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • lymphadenopathy/polyadenopathies
  • polynuclear cells/neutrophils anomalies/neutropenia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • iris albinism/ocular albinism
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • irregular/patchy skin hypopigmentation

Drugs & Therapeutics for Griscelli Syndrome Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Griscelli Syndrome Type 2

Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome Type 2

Search NIH Clinical Center for Griscelli Syndrome Type 2

Search CenterWatch for Griscelli Syndrome Type 2

Genetic Tests for Griscelli Syndrome Type 2

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20GeneTests, 22GTR
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Genetic tests related to Griscelli Syndrome Type 2:

id Genetic test Affiliating Genes
1 Griscelli Syndrome, Type 220 RAB27A
2 Griscelli Syndrome Type 222

Anatomical Context for Griscelli Syndrome Type 2

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32MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome Type 2:

32
Skin, Lung, Liver, Bone, Eye, Bone marrow

Animal Models for Griscelli Syndrome Type 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1RAB27A, MLPH, UNC13D, CCL5

Publications for Griscelli Syndrome Type 2

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Genetic Variations for Griscelli Syndrome Type 2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Griscelli Syndrome Type 2:

62
id Symbol AA change Variation ID SNP ID
1RAB27Ap.Trp73GlyVAR_010654rs28938176
2RAB27Ap.Leu130ProVAR_011334
3RAB27Ap.Ala152ProVAR_011335

Expression for genes affiliated with Griscelli Syndrome Type 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Griscelli Syndrome Type 2

Search GEO for disease gene expression data for Griscelli Syndrome Type 2.

Pathways for genes affiliated with Griscelli Syndrome Type 2

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37NCBI BioSystems Database
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Pathways related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
9.5RAB27A, UNC13D
28.9RAB27A, MLPH, UNC13D

Compounds for genes affiliated with Griscelli Syndrome Type 2

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44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gdp449.2RAB27A, AGFG1
2gtp44 289.7RAB27A, AGFG1, CCL5
3glucose448.7RAB27A, AGFG1, CCL5
4sodium44 249.6CCL5, AGFG1, RAB27A

GO Terms for genes affiliated with Griscelli Syndrome Type 2

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16Gene Ontology
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Cellular components related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:0703829.5RAB27A, UNC13D
2lysosomeGO:0057649.5RAB27A, UNC13D
3late endosomeGO:0057709.4RAB27A, UNC13D
4melanosomeGO:0424709.1RAB27A, MLPH

Biological processes related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:0433209.6RAB27A, UNC13D
2positive regulation of exocytosisGO:0459219.5RAB27A, UNC13D
3melanocyte differentiationGO:0303189.3MLPH, RAB27A
4exocytosisGO:0068879.2RAB27A, CCL5
5protein targetingGO:0066059.1RAB27A, MLPH

Molecular functions related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:0314899.4RAB27A, MLPH

Products for genes affiliated with Griscelli Syndrome Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Griscelli Syndrome Type 2

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