GS2
MCID: GRS008
MIFTS: 47

Griscelli Syndrome Type 2 (GS2) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Neuronal diseases, Immune diseases categories
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Summaries for Griscelli Syndrome Type 2

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 griscelli syndrome and hematopoietic stem cell transplantation, 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 is Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The compounds sodium and gtp have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotypes are pigmentation and immune system.

Description from OMIM:47 607624

Aliases & Classifications for Griscelli Syndrome Type 2

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 62UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

griscelli syndrome type 2 43 20 22
griscelli syndrome, type 2 47 45 62
hypopigmentation - immunodeficiency with or without neurologic impairment 49
griscelli syndrome with hemophagocytic syndrome 43
albinoidism, oculocutaneous, autosomal dominant 62
partial albinism and immunodeficiency syndrome 43
griscelli-pruniéras syndrome type 2 49
griscelli disease type 2 49
paid syndrome 43
gs2 43


External Ids:

OMIM47 607624
MESH via Orphanet36 C537302
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 C1868679

Related Diseases for Griscelli Syndrome Type 2

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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 Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome10.8
2hematopoietic stem cell transplantation10.4
3hemophagocytic lymphohistiocytosis10.2
4myositis10.2
5griscelli syndrome type 110.2
6lymphomatoid granulomatosis10.2
7ipex syndrome10.0RAB27A, CCL5
8piebaldism9.9RAB27A, MLPH

Graphical network of diseases related to Griscelli Syndrome Type 2:



Diseases related to griscelli syndrome type 2

Symptoms for Griscelli Syndrome Type 2

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

607624

Clinical features from OMIM:

607624

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome Type 2

Search NIH Clinical Center for Griscelli Syndrome Type 2

Genetic Tests for Griscelli Syndrome Type 2

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Sources:
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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33MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome Type 2:

33
Skin, Bone, Bone marrow, Lung, Liver, Eye

Animal Models for Griscelli Syndrome Type 2 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome Type 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7RAB27A, MLPH
2MP:00053878.5RAB27A, CCL5, MLPH

Publications for Griscelli Syndrome Type 2

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52PubMed
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Articles related to Griscelli Syndrome Type 2:

(show all 14)
idTitleAuthorsYear
1
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
2
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
3
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
4
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
5
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
6
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (20370853)
2010
7
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (19953648)
2010
8
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
9
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
10
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
11
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
12
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
13
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
14
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007

Variations for Griscelli Syndrome Type 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome Type 2:

64
id Symbol AA change Variation ID SNP ID
1RAB27Ap.Trp73GlyVAR_010654rs28938176
2RAB27Ap.Leu130ProVAR_011334
3RAB27Ap.Ala152ProVAR_011335

Clinvar genetic disease variations for Griscelli Syndrome Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1RAB27ANM_183235.2(RAB27A): c.217T> G (p.Trp73Gly)single nucleotide variantPathogenicrs28938176GRCh37Chr 15, 55522621: 55522621
2RAB27ARAB27A, INV3DS, A-G, +3single nucleotide variantPathogenic
3RAB27ARAB27A, 550C-Tsingle nucleotide variantPathogenic
4RAB27ARAB27A, 67.5-KB DELdeletionPathogenic
5RAB27ANM_183235.2(RAB27A): c.389T> C (p.Leu130Pro)single nucleotide variantPathogenicrs104894498GRCh37Chr 15, 55516165: 55516165
6RAB27ANM_183235.2(RAB27A): c.454G> C (p.Ala152Pro)single nucleotide variantPathogenicrs104894499GRCh37Chr 15, 55516100: 55516100
7RAB27ARAB27A, 2-BP DEL, 51CTdeletionPathogenic
8RAB27ARAB27A, IVS5, G-C, +1single nucleotide variantPathogenic
9RAB27ANM_183235.2(RAB27A): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs104894500GRCh37Chr 15, 55516202: 55516202
10RAB27ANM_183235.2(RAB27A): c.259G> C (p.Ala87Pro)single nucleotide variantPathogenicrs104894497GRCh37Chr 15, 55520891: 55520891

Expression for genes affiliated with Griscelli Syndrome Type 2

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2BioGPS, 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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Sources:
50PathCards, 38NCBI 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
19.0RAB27A, MLPH

Compounds for genes affiliated with Griscelli Syndrome Type 2

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Sources:
45Novoseek, 24HMDB, 29IUPHAR
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Compounds related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium45 2410.3RAB27A, CCL5
2gtp45 2910.0RAB27A, CCL5

GO Terms for genes affiliated with Griscelli Syndrome Type 2

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16Gene Ontology
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Biological processes related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exocytosisGO:0068879.3RAB27A, CCL5
2melanocyte differentiationGO:0303188.9RAB27A, MLPH
3protein targetingGO:0066058.7RAB27A, MLPH

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

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:0314899.0RAB27A, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet