MCID: GRS014
MIFTS: 46

Griscelli Syndrome, Type 2 malady

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

Summaries for Griscelli Syndrome, Type 2

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Wikipedia:63 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 disease type 2, is related to hemophagocytic lymphohistiocytosis and griscelli syndrome, and has symptoms including hypopigmented skin patches, premature graying of hair and hypopigmentation of hair. 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 Influenza A. The compounds gdp and histamine 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:45 607624

Aliases & Classifications for Griscelli Syndrome, Type 2

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 60UMLS, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Griscelli Syndrome, Type 2, Aliases & Descriptions:

Name: Griscelli Syndrome, Type 2 45 10 43 60
Griscelli Disease Type 2 41 20 47 22
Hypopigmentation - Immunodeficiency with or Without Neurologic Impairment 41 47
Griscelli-PruniƩras Syndrome Type 2 41 47
Griscelli Syndrome with Hemophagocytic Syndrome 41
 
Partial Albinism and Immunodeficiency Syndrome 41
Griscelli Syndrome Type 2 41
Paid Syndrome 41
Gs2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
griscelli disease type 2:
Inheritance: Autosomal recessive


External Ids:

OMIM45 607624
Orphanet47 79477
MESH via Orphanet34 C537302
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C1868679

Related Diseases for Griscelli Syndrome, Type 2

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Diseases in the Griscelli Syndrome family:

Griscelli Syndrome, Type 3 Griscelli Syndrome, Type 1
griscelli syndrome, type 2

Diseases related to Griscelli Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hemophagocytic lymphohistiocytosis30.6RAB27A, UNC13D
2griscelli syndrome10.9
3griscelli syndrome, type 110.3
4hematopoietic stem cell transplantation10.3
5lymphomatoid granulomatosis10.3
6myositis10.3
7chediak-higashi syndrome10.0UNC13D, RAB27A
8choroideremia10.0RAB27A, AGFG1
9factor v leiden thrombophilia10.0CCL5, AGFG1
10piebaldism10.0RAB27A, MLPH
11ipex syndrome9.6CCL5, RAB27A, AGFG1

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:

 47 (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:

31
Skin, Bone marrow, Bone, Neutrophil, Eye, Cerebellum, Liver, Lung

Animal Models for Griscelli Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4RAB27A, MLPH
2MP:00053877.8RAB27A, CCL5, UNC13D, MLPH

Publications for Griscelli Syndrome, Type 2

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Articles related to Griscelli Syndrome, Type 2:

(show all 18)
idTitleAuthorsYear
1
Seizure as the presenting manifestation in griscelli syndrome type 2. (25801174)
2015
2
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
3
An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)
2014
4
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). (25544030)
2014
5
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. (24678334)
2014
6
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. (23714271)
2013
7
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
8
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
9
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
10
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. (21314004)
2010
11
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. (20370853)
2010
12
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. (19953648)
2010
13
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
14
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
15
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
16
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
17
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. (19030707)
2008
18
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:

62
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 Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RAB27A, UNC13D
2
Show member pathways
9.1AGFG1, CCL5
38.9RAB27A, UNC13D, MLPH

Compounds for genes affiliated with Griscelli Syndrome, Type 2

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Sources:
43Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1gdp439.2RAB27A, AGFG1
2histamine43 28 2411.1AGFG1, CCL5
3gtp43 289.7AGFG1, RAB27A, CCL5
4sodium43 249.7CCL5, RAB27A, AGFG1
5glucose438.6CCL5, RAB27A, AGFG1

GO Terms for genes affiliated with Griscelli Syndrome, Type 2

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Cellular components related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.5RAB27A, UNC13D
2exocytic vesicleGO:00703829.4RAB27A, UNC13D
3late endosomeGO:00057709.2RAB27A, UNC13D

Biological processes related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:00433209.6RAB27A, UNC13D
2positive regulation of exocytosisGO:00459219.5RAB27A, UNC13D
3melanocyte differentiationGO:00303189.3MLPH, RAB27A
4exocytosisGO:00068879.2RAB27A, CCL5
5protein targetingGO:00066059.1RAB27A, MLPH

Molecular functions related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin V bindingGO:00314899.4RAB27A, MLPH

Products for genes affiliated with Griscelli Syndrome, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Griscelli Syndrome, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet