GS2
MCID: GRS008
MIFTS: 48

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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Wikipedia:65 Griscelli syndrome type 2 (also known as \"Partial albinism with immunodeficiency\") is a rare autosomal... more...

MalaCards based summary: 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 irregular/patchy skin hypopigmentation, premature greying of hair and decreased hair pigmentation/hypopigmentation of hair. 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 marrow and bone, and related mouse phenotypes are pigmentation and immune system.

Description from OMIM:46 607624

Aliases & Classifications for Griscelli Syndrome Type 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Griscelli Syndrome Type 2, Aliases & Descriptions:

Name: Griscelli Syndrome Type 2 42 20 22
Griscelli Syndrome, Type 2 46 44 62
Griscelli Syndrome with Hemophagocytic Syndrome 42 62
Hypopigmentation - Immunodeficiency with or Without Neurologic Impairment 48
Albinoidism, Oculocutaneous, Autosomal Dominant 62
 
Partial Albinism and Immunodeficiency Syndrome 42
Griscelli-Pruniéras Syndrome Type 2 48
Griscelli Disease Type 2 48
Paid Syndrome 42
Gs2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

OMIM46 607624
MESH via Orphanet35 C537302
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 C1868679

Related Diseases for Griscelli Syndrome Type 2

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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 syndrome10.9
2hematopoietic stem cell transplantation10.4
3hemophagocytic lymphohistiocytosis10.3
4lymphomatoid granulomatosis10.3
5myositis10.3
6griscelli syndrome type 110.3
7ipex syndrome10.0RAB27A, CCL5
8piebaldism9.7RAB27A, 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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Symptoms by clinical synopsis from OMIM:

607624

Clinical features from OMIM:

607624

Symptoms:

48 (show all 21)
  • irregular/patchy skin hypopigmentation
  • 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
  • purpura/petichiae
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • splenomegaly
  • lung/pulmonary infiltrates
  • meningitis/meningeal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • bone marrow failure/pancytopenia
  • fever/chilling

HPO human phenotypes related to Griscelli Syndrome Type 2:

(show all 30)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 premature graying of hair hallmark (90%) HP:0002216
3 hypopigmentation of hair hallmark (90%) HP:0005599
4 abnormality of immune system physiology hallmark (90%) HP:0010978
5 abnormality of neutrophils typical (50%) HP:0001874
6 hepatomegaly typical (50%) HP:0002240
7 lymphadenopathy typical (50%) HP:0002716
8 abnormality of lipid metabolism typical (50%) HP:0003119
9 ocular albinism occasional (7.5%) HP:0001107
10 seizures occasional (7.5%) HP:0001250
11 hypertonia occasional (7.5%) HP:0001276
12 meningitis occasional (7.5%) HP:0001287
13 splenomegaly occasional (7.5%) HP:0001744
14 subcutaneous hemorrhage occasional (7.5%) HP:0001933
15 nausea and vomiting occasional (7.5%) HP:0002017
16 pulmonary infiltrates occasional (7.5%) HP:0002113
17 abnormality of temperature regulation occasional (7.5%) HP:0004370
18 bone marrow hypocellularity occasional (7.5%) HP:0005528
19 autosomal recessive inheritance HP:0000007
20 accumulation of melanosomes in melanocytes HP:0001008
21 hypopigmentation of the skin HP:0001010
22 seizures HP:0001250
23 spasticity HP:0001257
24 abnormality of the cerebellum HP:0001317
25 silver-gray hair HP:0002218
26 melanin pigment aggregation in hair shafts HP:0002220
27 progressive neurologic deterioration HP:0002344
28 recurrent bacterial infections HP:0002718
29 reduced delayed hypersensitivity HP:0002972
30 infantile onset HP:0003593

Drugs & Therapeutics for Griscelli Syndrome Type 2

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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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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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MalaCards organs/tissues related to Griscelli Syndrome Type 2:

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

Animal Models for Griscelli Syndrome Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7RAB27A, MLPH
2MP:00053878.5RAB27A, CCL5, MLPH

Publications for Griscelli Syndrome Type 2

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Articles related to Griscelli Syndrome Type 2:

(show all 17)
idTitleAuthorsYear
1
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
2
An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)
2014
3
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. (24678334)
2014
4
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
5
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
6
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
7
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
8
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
9
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (20370853)
2010
10
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (19953648)
2010
11
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
12
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (19403888)
2009
13
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
14
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
15
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
16
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
17
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007

Variations for Griscelli Syndrome Type 2

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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:

6
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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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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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:
44Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Griscelli Syndrome Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium44 2410.3RAB27A, CCL5
2gtp44 2810.0RAB27A, CCL5

GO Terms for genes affiliated with Griscelli Syndrome Type 2

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet