GS2
MCID: GRS014
MIFTS: 48

Griscelli Syndrome, Type 2 (GS2)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Griscelli Syndrome, Type 2

MalaCards integrated aliases for Griscelli Syndrome, Type 2:

Name: Griscelli Syndrome, Type 2 57 13 55 40 72
Griscelli Syndrome Type 2 12 53 59 29 6 44 15
Gs2 57 12 53 74
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 12 53 59
Griscelli Syndrome with Hemophagocytic Syndrome 57 12 53
Partial Albinism and Immunodeficiency Syndrome 57 12 53
Paid Syndrome 57 12 53
Griscelli-Pruni��ras Syndrome Type 2 12
Griscelli-Pruniéras Syndrome Type 2 53
Griscelli-Prunieras Syndrome Type 2 59
Griscelli Syndrome 2 74

Characteristics:

Orphanet epidemiological data:

59
griscelli syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

OMIM:

57
Miscellaneous:
death in childhood
onset in infancy or early childhood
multiorgan failure may result from hs
see also griscelli syndrome type 1 () for a similar disorder without immunological abnormalities and griscelli syndrome type 3 () for a similar disorder without neurologic or immunologic abnormalities

Inheritance:
autosomal recessive


HPO:

32
griscelli syndrome, type 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset
Clinical modifier death in childhood


Classifications:



External Ids:

Disease Ontology 12 DOID:0060833
MeSH 44 C537302
NCIt 50 C111814
MESH via Orphanet 45 C537302
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 73 C1868679
Orphanet 59 ORPHA79477
MedGen 42 C1868679
UMLS 72 C1868679

Summaries for Griscelli Syndrome, Type 2

NIH Rare Diseases : 53 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.

MalaCards based summary : Griscelli Syndrome, Type 2, also known as griscelli syndrome type 2, is related to griscelli syndrome, type 1 and macrophage activation syndrome, and has symptoms including seizures, muscle spasticity and cerebellar signs. An important gene associated with Griscelli Syndrome, Type 2 is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Interleukin-10 signaling and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.

UniProtKB/Swiss-Prot : 74 Griscelli syndrome 2: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.

More information from OMIM: 607624 PS214450

Related Diseases for Griscelli Syndrome, Type 2

Diseases in the Griscelli Syndrome family:

Griscelli Syndrome, Type 1 Griscelli Syndrome, Type 2
Griscelli Syndrome, Type 3

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 32.2 RAB27A MYO5A GLUL
2 macrophage activation syndrome 30.6 UNC13D RAB27A
3 chediak-higashi syndrome 29.9 UNC13D RAB27A LYST
4 griscelli syndrome 29.8 UNC13D SYTL2 RAB27A MYO5A MLPH LYST
5 piebald trait 29.5 RAB27A MYO5A MLPH LYST
6 hemophagocytic lymphohistiocytosis 28.9 UNC13D UNC13B RAB27A LYST IL10
7 autosomal recessive disease 10.6
8 albinism 10.5
9 hemophagocytic lymphohistiocytosis, familial, 4 10.4 UNC13D RAB27A
10 vulvovaginitis 10.4 IL10 CCL5
11 orofacial granulomatosis 10.4 IL10 CCL5
12 autoimmune disease of eyes, ear, nose and throat 10.3 IL10 CCL5
13 pancytopenia 10.3
14 hematopoietic stem cell transplantation 10.3
15 mycetoma 10.3 IL10 CCL5
16 spotted fever 10.3 IL10 CCL5
17 genital herpes 10.3 IL10 CCL5
18 viral encephalitis 10.3 IL10 CCL5
19 idiopathic neutropenia 10.2 IL10 CCL5
20 lymphatic system disease 10.2 UNC13D RAB27A
21 glioblastoma multiforme 10.2
22 kallmann syndrome 10.2
23 glioblastoma 10.2
24 immune deficiency disease 10.2
25 splenomegaly 10.2
26 hypopigmentation of the skin 10.2
27 human immunodeficiency virus infectious disease 10.2 IL10 CCL5
28 tropical spastic paraparesis 10.1 IL10 CCL5
29 hypertriglyceridemia, familial 10.0
30 myositis 10.0
31 hemophagocytic lymphohistiocytosis, familial, 1 10.0
32 graft-versus-host disease 10.0
33 deficiency anemia 10.0
34 oculocutaneous albinism 10.0
35 lymphoproliferative syndrome 10.0
36 hepatic veno-occlusive disease 10.0
37 lymphocytic choriomeningitis 10.0
38 neutropenia 10.0
39 diarrhea 10.0
40 thrombocytopenia 10.0
41 status epilepticus 10.0
42 encephalitis 10.0
43 pathologic nystagmus 10.0
44 acute graft versus host disease 10.0
45 lymphomatoid granulomatosis 10.0
46 chronic encephalitis 10.0
47 extrinsic allergic alveolitis 10.0 IL10 CCL5
48 cardiac arrest 9.8
49 dystonia 9.8
50 filariasis 9.8 IL10 CCL5

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 2:



Diseases related to Griscelli Syndrome, Type 2

Symptoms & Phenotypes for Griscelli Syndrome, Type 2

Human phenotypes related to Griscelli Syndrome, Type 2:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 pancytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001876
5 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
6 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
7 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
8 hemophagocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012156
9 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
10 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
11 neutropenia 59 32 frequent (33%) Frequent (79-30%) HP:0001875
12 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
13 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
15 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
16 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
17 pulmonary infiltrates 59 32 occasional (7.5%) Occasional (29-5%) HP:0002113
18 petechiae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000967
19 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
20 progressive neurologic deterioration 32 occasional (7.5%) HP:0002344
21 spasticity 32 HP:0001257
22 recurrent bacterial infections 32 HP:0002718
23 abnormal cerebellum morphology 32 HP:0001317
24 hypopigmentation of the skin 32 HP:0001010
25 silver-gray hair 32 HP:0002218
26 accumulation of melanosomes in melanocytes 32 HP:0001008
27 melanin pigment aggregation in hair shafts 32 HP:0002220
28 reduced delayed hypersensitivity 32 HP:0002972

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
cerebellar signs
variable neurologic deterioration (likely result of hemophagocytic syndrome)

Skin Nails Hair Skin:
accumulation of melanosomes in melanocytes
skin hypopigmentation

Skin Nails Hair Hair:
silver-gray hair
melanin pigment aggregation in hair shafts

Immunology:
hemophagocytic syndrome (hs) characterized by acute onset of uncontrolled t-lymphocyte and macrophage activation
lymphohistiocytic infiltration and hemophagocytosis in multiple organs
t-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis
deficiency of delayed skin hypersensitivity
humoral deficiency (likely result of t-cell abnormalities)
more

Clinical features from OMIM:

607624

UMLS symptoms related to Griscelli Syndrome, Type 2:


seizures, muscle spasticity, cerebellar signs

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 LYST MLPH MYO5A RAB27A
2 vision/eye MP:0005391 9.1 IL10 LYST MLPH MYO5A RAB27A UNC13B

Drugs & Therapeutics for Griscelli Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Griscelli Syndrome, Type 2

Cochrane evidence based reviews: griscelli syndrome type 2

Genetic Tests for Griscelli Syndrome, Type 2

Genetic tests related to Griscelli Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Griscelli Syndrome Type 2 29 RAB27A

Anatomical Context for Griscelli Syndrome, Type 2

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

41
Skin, Bone, Bone Marrow, T Cells, Eye, Cerebellum, Nk Cells

Publications for Griscelli Syndrome, Type 2

Articles related to Griscelli Syndrome, Type 2:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. 8 71
15163896 2004
2
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. 8 71
12522785 2003
3
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 8 71
12058346 2002
4
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 8 71
10835631 2000
5
A kindred with Griscelli disease: spectrum of neurological involvement. 8 71
8319705 1993
6
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 9 38 71
16278825 2006
7
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. 71
12531900 2003
8
Hypomelanosis, immunity, central nervous system: no more "and", not the end. 8
12522786 2003
9
Comment on Elejalde syndrome and relationship with Griscelli syndrome. 8
12522801 2003
10
Griscelli syndrome types 1 and 2. 8
12452176 2002
11
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. 8
10704277 2000
12
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. 8
9486701 1998
13
Griscelli syndrome: report of three cases. 8
8597818 1995
14
Partial albinism with immunodeficiency (Griscelli syndrome). 8
7996360 1994
15
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). 8
8446567 1993
16
Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. 8
1490625 1992
17
A syndrome associating partial albinism and immunodeficiency. 8
707528 1978
18
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. 9 38
20370853 2010
19
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. 9 38
19953648 2010
20
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 9 38
19704116 2009
21
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). 9 38
18991284 2008
22
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. 9 38
18350256 2008
23
[Defect in lytic granule exocytosis: several causes, a same effect]. 9 38
16962048 2006
24
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. 9 38
12446441 2003
25
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 38
31233462 2019
26
Griscelli syndrome type 2. 38
31199490 2019
27
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 38
30971555 2019
28
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 38
29875956 2018
29
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 38
28585352 2017
30
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 38
28484936 2017
31
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. 38
26960655 2016
32
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). 38
25544030 2015
33
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 38
25312756 2015
34
Seizure as the presenting manifestation in Griscelli syndrome type 2. 38
25801174 2015
35
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. 38
25564401 2015
36
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 38
25382070 2015
37
Cerebellar involvement of Griscelli syndrome type 2. 38
25315806 2014
38
An Indian boy with griscelli syndrome type 2: case report and review of literature. 38
25071262 2014
39
The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag. 38
24584932 2014
40
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. 38
24678334 2014
41
Rab27a was identified as a prognostic biomaker by mRNA profiling, correlated with malignant progression and subtype preference in gliomas. 38
24587032 2014
42
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders. 38
23810987 2013
43
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. 38
23714271 2013
44
[A hemophagocytic syndrome revealing a Griscelli syndrome type 2]. 38
23906575 2013
45
Mimics and rare presentations of pediatric demyelination. 38
23608693 2013
46
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. 38
22294731 2012
47
[Secretory lysosome disorders in the immune synapse and other tissues]. 38
22032885 2012
48
Human NK cell lytic granules and regulation of their exocytosis. 38
23162553 2012
49
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. 38
22111599 2011
50
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. 38
20591709 2010

Variations for Griscelli Syndrome, Type 2

ClinVar genetic disease variations for Griscelli Syndrome, Type 2:

6 (show all 38)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAB27A NM_183235.3(RAB27A): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs200956636 15:55497821-55497821 15:55205623-55205623
2 RAB27A NM_183235.3(RAB27A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs141281020 15:55527131-55527131 15:55234933-55234933
3 RAB27A NM_183235.3(RAB27A): c.18_19del (p.Tyr6_Asp7delinsTer) deletion Pathogenic rs1555394745 15:55527114-55527115 15:55234916-55234917
4 RAB27A deletion Pathogenic
5 RAB27A NM_183235.3(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 15:55522621-55522621 15:55230423-55230423
6 RAB27A RAB27A, INV3DS, A-G, +3 single nucleotide variant Pathogenic
7 RAB27A RAB27A, 550C-T single nucleotide variant Pathogenic
8 RAB27A RAB27A, 67.5-KB DEL deletion Pathogenic
9 RAB27A NM_183235.3(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 15:55516165-55516165 15:55223967-55223967
10 RAB27A NM_183235.3(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 15:55516100-55516100 15:55223902-55223902
11 RAB27A RAB27A, 2-BP DEL, 51CT deletion Pathogenic
12 RAB27A RAB27A, IVS5, G-C, +1 single nucleotide variant Pathogenic
13 RAB27A NM_183235.3(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 15:55516202-55516202 15:55224004-55224004
14 RAB27A NM_183235.3(RAB27A): c.419_420AG[2] (p.Arg141fs) short repeat Pathogenic 15:55516130-55516131 15:55223932-55223933
15 RAB27A NC_000015.9: g.(?_55516067)_(55516230_?)del deletion Pathogenic 15:55516067-55516230 15:55223869-55224032
16 RAB27A NC_000015.9: g.(?_55516067)_(55527152_?)del deletion Pathogenic 15:55516067-55527152 15:55223869-55234954
17 RAB27A NC_000015.9: g.(?_55526960)_(55527152_?)del deletion Pathogenic 15:55526960-55527152 15:55234762-55234954
18 RAB27A NM_183235.3(RAB27A): c.467+1G> C single nucleotide variant Likely pathogenic 15:55516086-55516086 15:55223888-55223888
19 RAB27A NM_183235.3(RAB27A): c.514_518del (p.Gln172fs) deletion Likely pathogenic rs767481076 15:55497853-55497857 15:55205655-55205659
20 RAB27A NM_183235.3(RAB27A): c.259G> C (p.Ala87Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894497 15:55520891-55520891 15:55228693-55228693
21 RAB27A NM_183235.3(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 15:55522671-55522671 15:55230473-55230473
22 RAB27A NM_183235.3(RAB27A): c.621G> A (p.Thr207=) single nucleotide variant Uncertain significance 15:55497750-55497750 15:55205552-55205552
23 RAB27A NM_183235.3(RAB27A): c.94G> C (p.Gly32Arg) single nucleotide variant Uncertain significance 15:55527039-55527039 15:55234841-55234841
24 RAB27A NM_183235.3(RAB27A): c.11G> T (p.Gly4Val) single nucleotide variant Uncertain significance 15:55527122-55527122 15:55234924-55234924
25 RAB27A NM_183235.3(RAB27A): c.551G> A (p.Arg184Gln) single nucleotide variant Uncertain significance 15:55497820-55497820 15:55205622-55205622
26 RAB27A NM_183235.3(RAB27A): c.343+6del deletion Uncertain significance 15:55520801-55520801 15:55228603-55228603
27 RAB27A NM_183235.3(RAB27A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance 15:55520875-55520875 15:55228677-55228677
28 RAB27A NM_183235.3(RAB27A): c.620C> T (p.Thr207Met) single nucleotide variant Uncertain significance 15:55497751-55497751 15:55205553-55205553
29 RAB27A NM_183235.3(RAB27A): c.559C> T (p.Arg187Trp) single nucleotide variant Uncertain significance 15:55497812-55497812 15:55205614-55205614
30 RAB27A NM_183235.3(RAB27A): c.543A> G (p.Ile181Met) single nucleotide variant Uncertain significance 15:55497828-55497828 15:55205630-55205630
31 RAB27A NM_183235.3(RAB27A): c.518C> G (p.Ala173Gly) single nucleotide variant Uncertain significance 15:55497853-55497853 15:55205655-55205655
32 RAB27A NM_183235.3(RAB27A): c.526A> T (p.Met176Leu) single nucleotide variant Uncertain significance rs757760608 15:55497845-55497845 15:55205647-55205647
33 RAB27A NM_183235.3(RAB27A): c.365A> T (p.Tyr122Phe) single nucleotide variant Uncertain significance rs1259290779 15:55516189-55516189 15:55223991-55223991
34 RAB27A NM_183235.3(RAB27A): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs145253993 15:55527116-55527116 15:55234918-55234918
35 RAB27A NM_183235.3(RAB27A): c.418C> G (p.Gln140Glu) single nucleotide variant Uncertain significance rs150463407 15:55516136-55516136 15:55223938-55223938
36 RAB27A NM_183235.3(RAB27A): c.195C> G (p.Gly65=) single nucleotide variant Likely benign rs897453247 15:55522643-55522643 15:55230445-55230445
37 RAB27A NM_183235.3(RAB27A): c.594G> A (p.Val198=) single nucleotide variant Benign rs141222527 15:55497777-55497777 15:55205579-55205579
38 RAB27A NM_183235.3(RAB27A): c.468-3C> T single nucleotide variant Benign rs113895512 15:55497906-55497906 15:55205708-55205708

UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome, Type 2:

74
# Symbol AA change Variation ID SNP ID
1 RAB27A p.Trp73Gly VAR_010654 rs28938176
2 RAB27A p.Leu130Pro VAR_011334 rs104894498
3 RAB27A p.Ala152Pro VAR_011335 rs104894499

Expression for Griscelli Syndrome, Type 2

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

Pathways for Griscelli Syndrome, Type 2

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

# Super pathways Score Top Affiliating Genes
1 10.85 IL10 CCL5
2 10.13 UNC13D SYTL2 RAB27A MLPH
3 10.03 UNC13D RAB27A

GO Terms for Griscelli Syndrome, Type 2

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

# Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 9.43 UNC13D RAB27A MYO5A
2 melanosome GO:0042470 9.33 SYTL2 RAB27A MYO5A
3 Weibel-Palade body GO:0033093 8.96 UNC13D RAB27A
4 exocytic vesicle GO:0070382 8.8 UNC13D SYTL2 RAB27A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.69 SYTL2 RAB27A MYO5A
2 triglyceride catabolic process GO:0019433 9.49 PNPLA5 PNPLA4
3 leukocyte chemotaxis GO:0030595 9.48 LYST IL10
4 positive regulation of exocytosis GO:0045921 9.46 UNC13D RAB27A
5 defense response to protozoan GO:0042832 9.43 LYST IL10
6 melanocyte differentiation GO:0030318 9.4 RAB27A MYO5A
7 natural killer cell degranulation GO:0043320 9.37 UNC13D RAB27A
8 pigmentation GO:0043473 9.33 RAB27A MYO5A LYST
9 positive regulation of regulated secretory pathway GO:1903307 9.32 UNC13D RAB27A
10 melanosome localization GO:0032400 9.26 RAB27A MYO5A
11 melanosome transport GO:0032402 9.13 RAB27A MYO5A MLPH
12 exocytosis GO:0006887 9.1 UNC13D UNC13B SYTL2 RAB27A MYO5A CCL5

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.02 UNC13D UNC13B SYTL2 MYO5A MLPH
2 triglyceride lipase activity GO:0004806 8.96 PNPLA5 PNPLA4

Sources for Griscelli Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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