GS2
MCID: GRS014
MIFTS: 49

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 58 13 56 41 74
Griscelli Syndrome Type 2 12 54 60 30 6 45 15
Gs2 58 12 54 76
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 12 54 60
Griscelli Syndrome with Hemophagocytic Syndrome 58 12 54
Partial Albinism and Immunodeficiency Syndrome 58 12 54
Paid Syndrome 58 12 54
Griscelli-Pruniéras Syndrome Type 2 54 60
Griscelli Syndrome 2 76

Characteristics:

Orphanet epidemiological data:

60
griscelli syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in 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


HPO:

33
griscelli syndrome, type 2:
Onset and clinical course infantile onset
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Griscelli Syndrome, Type 2

NIH Rare Diseases : 54 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 Microglia Activation During Neuroinflammation: Microglia Polarization and Interleukin-10 signaling. 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 : 76 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.

Description from OMIM: 607624

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 all 34)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 32.1 MYO5A RAB27A
2 macrophage activation syndrome 30.2 RAB27A UNC13D
3 griscelli syndrome 29.2 CCL5 IL10 LYST MLPH MYO5A RAB27A
4 hemophagocytic lymphohistiocytosis 28.9 IL10 LYST RAB27A UNC13B UNC13D
5 hematopoietic stem cell transplantation 10.2
6 hemophagocytic lymphohistiocytosis, familial, 4 10.1 RAB27A UNC13D
7 vulvovaginitis 10.1 CCL5 IL10
8 autoimmune disease of eyes, ear, nose and throat 10.1 CCL5 IL10
9 orofacial granulomatosis 10.1 CCL5 IL10
10 mycetoma 10.1 CCL5 IL10
11 spotted fever 10.1 CCL5 IL10
12 genital herpes 10.1 CCL5 IL10
13 viral encephalitis 10.1 CCL5 IL10
14 idiopathic neutropenia 10.1 CCL5 IL10
15 lymphatic system disease 10.1 RAB27A UNC13D
16 tropical spastic paraparesis 10.0 CCL5 IL10
17 human immunodeficiency virus infectious disease 10.0 CCL5 IL10
18 myositis 10.0
19 lymphomatoid granulomatosis 10.0
20 filariasis 10.0 CCL5 IL10
21 griscelli syndrome, type 3 10.0 MLPH MYO5A RAB27A
22 extrinsic allergic alveolitis 10.0 CCL5 IL10
23 autoimmune disease of central nervous system 10.0 CCL5 IL10
24 upper respiratory tract disease 10.0 CCL5 IL10
25 bronchial disease 10.0 CCL5 IL10
26 bronchiolitis 9.9 CCL5 IL10
27 relapsing-remitting multiple sclerosis 9.9 CCL5 IL10
28 trypanosomiasis 9.9 CCL5 IL10
29 cardiac arrest 9.8
30 dystonia 9.8
31 proteasome-associated autoinflammatory syndrome 1 9.8 CCL5 IL10
32 chediak-higashi syndrome 9.8 LYST RAB27A UNC13D
33 piebald trait 9.7 LYST MLPH MYO5A RAB27A
34 allergic asthma 9.7 CCL5 IL10

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:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
4 pancytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001876
5 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
6 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599
7 partial albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0007443
8 hemophagocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012156
9 jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0000952
10 hyperlipidemia 60 33 frequent (33%) Frequent (79-30%) HP:0003077
11 neutropenia 60 33 frequent (33%) Frequent (79-30%) HP:0001875
12 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
13 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
14 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
15 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
16 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
17 petechiae 60 33 occasional (7.5%) Occasional (29-5%) HP:0000967
18 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
19 pulmonary infiltrates 60 33 occasional (7.5%) Occasional (29-5%) HP:0002113
20 progressive neurologic deterioration 33 occasional (7.5%) HP:0002344
21 spasticity 33 HP:0001257
22 recurrent bacterial infections 33 HP:0002718
23 hypopigmentation of the skin 33 HP:0001010
24 silver-gray hair 33 HP:0002218
25 accumulation of melanosomes in melanocytes 33 HP:0001008
26 melanin pigment aggregation in hair shafts 33 HP:0002220
27 reduced delayed hypersensitivity 33 HP:0002972
28 abnormal cerebellum morphology 33 HP:0001317

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
cerebellar signs
variable neurologic deterioration (likely result of hemophagocytic syndrome)

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

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

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

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.47 CCL5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.47 CCL5 IL10 RAB27A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.47 IL10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.47 RAB27A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.47 CCL5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.47 RAB27A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.47 IL10
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.47 IL10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.47 IL10
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.47 RAB27A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.47 CCL5
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.47 RAB27A

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.87 CCL5 IL10 LYST MLPH MYO5A RAB27A
2 hematopoietic system MP:0005397 9.85 CCL5 IL10 LYST MYO5A RAB27A UNC13D
3 integument MP:0010771 9.65 IL10 LYST MLPH MYO5A RAB27A
4 nervous system MP:0003631 9.63 IL10 LYST MYO5A RAB27A UNC13B UNC13D
5 pigmentation MP:0001186 9.26 LYST MLPH MYO5A RAB27A
6 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 30 RAB27A

Anatomical Context for Griscelli Syndrome, Type 2

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

42
Skin, Bone, Bone Marrow, T Cells, Eye, Cerebellum

Publications for Griscelli Syndrome, Type 2

Articles related to Griscelli Syndrome, Type 2:

(show all 23)
# Title Authors Year
1
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. ( 29875956 )
2018
2
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )
2017
3
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )
2017
4
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
5
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
6
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
7
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
8
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
9
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
10
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
11
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
12
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
13
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
14
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
15
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
16
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
17
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
18
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
19
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
2008
20
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. ( 19030707 )
2008
21
Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )
2008
22
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. ( 18350256 )
2008
23
Griscelli syndrome type 2; a pediatric case with immunodeficiency. ( 17893437 )
2007

Variations for Griscelli Syndrome, Type 2

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

76
# 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

ClinVar genetic disease variations for Griscelli Syndrome, Type 2:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB27A NM_183235.2(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 GRCh37 Chromosome 15, 55522621: 55522621
2 RAB27A NM_183235.2(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 GRCh38 Chromosome 15, 55230423: 55230423
3 RAB27A RAB27A, INV3DS, A-G, +3 single nucleotide variant Pathogenic
4 RAB27A RAB27A, 550C-T single nucleotide variant Pathogenic
5 RAB27A RAB27A, 67.5-KB DEL deletion Pathogenic
6 RAB27A NM_183235.2(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 GRCh37 Chromosome 15, 55516165: 55516165
7 RAB27A NM_183235.2(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 GRCh38 Chromosome 15, 55223967: 55223967
8 RAB27A NM_183235.2(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 GRCh37 Chromosome 15, 55516100: 55516100
9 RAB27A NM_183235.2(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 GRCh38 Chromosome 15, 55223902: 55223902
10 RAB27A RAB27A, 2-BP DEL, 51CT deletion Pathogenic
11 RAB27A RAB27A, IVS5, G-C, +1 single nucleotide variant Pathogenic
12 RAB27A NM_183235.2(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 GRCh37 Chromosome 15, 55516202: 55516202
13 RAB27A NM_183235.2(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 GRCh38 Chromosome 15, 55224004: 55224004
14 RAB27A NM_004580.4(RAB27A): c.259G> C (p.Ala87Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894497 GRCh37 Chromosome 15, 55520891: 55520891
15 RAB27A NM_004580.4(RAB27A): c.259G> C (p.Ala87Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894497 GRCh38 Chromosome 15, 55228693: 55228693
16 RAB27A NM_004580.4(RAB27A): c.526A> T (p.Met176Leu) single nucleotide variant Uncertain significance rs757760608 GRCh38 Chromosome 15, 55205647: 55205647
17 RAB27A NM_004580.4(RAB27A): c.526A> T (p.Met176Leu) single nucleotide variant Uncertain significance rs757760608 GRCh37 Chromosome 15, 55497845: 55497845
18 RAB27A NM_004580.4(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 GRCh38 Chromosome 15, 55230473: 55230473
19 RAB27A NM_004580.4(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 GRCh37 Chromosome 15, 55522671: 55522671
20 RAB27A NM_004580.4(RAB27A): c.514_518delCAAGC (p.Gln172Asnfs) deletion Likely pathogenic rs767481076 GRCh37 Chromosome 15, 55497853: 55497857
21 RAB27A NM_004580.4(RAB27A): c.514_518delCAAGC (p.Gln172Asnfs) deletion Likely pathogenic rs767481076 GRCh38 Chromosome 15, 55205655: 55205659
22 RAB27A NM_004580.4(RAB27A): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs200956636 GRCh37 Chromosome 15, 55497821: 55497821
23 RAB27A NM_004580.4(RAB27A): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs200956636 GRCh38 Chromosome 15, 55205623: 55205623
24 RAB27A NM_004580.4(RAB27A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs141281020 GRCh37 Chromosome 15, 55527131: 55527131
25 RAB27A NM_004580.4(RAB27A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs141281020 GRCh38 Chromosome 15, 55234933: 55234933
26 RAB27A NM_004580.4(RAB27A): c.18_19delTG (p.Tyr6Terfs) deletion Pathogenic rs1555394745 GRCh37 Chromosome 15, 55527114: 55527115
27 RAB27A NM_004580.4(RAB27A): c.18_19delTG (p.Tyr6Terfs) deletion Pathogenic rs1555394745 GRCh38 Chromosome 15, 55234916: 55234917
28 RAB27A NC_000015.10: g.(?_55228589)_(55234954_?)del deletion Pathogenic GRCh38 Chromosome 15, 55228589: 55234954
29 RAB27A NM_004580.4(RAB27A): c.594G> A (p.Val198=) single nucleotide variant Benign rs141222527 GRCh38 Chromosome 15, 55205579: 55205579
30 RAB27A NM_004580.4(RAB27A): c.594G> A (p.Val198=) single nucleotide variant Benign rs141222527 GRCh37 Chromosome 15, 55497777: 55497777
31 RAB27A NM_004580.4(RAB27A): c.468-3C> T single nucleotide variant Benign rs113895512 GRCh37 Chromosome 15, 55497906: 55497906
32 RAB27A NM_004580.4(RAB27A): c.468-3C> T single nucleotide variant Benign rs113895512 GRCh38 Chromosome 15, 55205708: 55205708
33 RAB27A NM_004580.4(RAB27A): c.195C> G (p.Gly65=) single nucleotide variant Likely benign rs897453247 GRCh37 Chromosome 15, 55522643: 55522643
34 RAB27A NM_004580.4(RAB27A): c.195C> G (p.Gly65=) single nucleotide variant Likely benign rs897453247 GRCh38 Chromosome 15, 55230445: 55230445
35 RAB27A NM_004580.4(RAB27A): c.365A> T (p.Tyr122Phe) single nucleotide variant Uncertain significance rs1259290779 GRCh38 Chromosome 15, 55223991: 55223991
36 RAB27A NM_004580.4(RAB27A): c.365A> T (p.Tyr122Phe) single nucleotide variant Uncertain significance rs1259290779 GRCh37 Chromosome 15, 55516189: 55516189
37 RAB27A NM_004580.4(RAB27A): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs145253993 GRCh37 Chromosome 15, 55527116: 55527116
38 RAB27A NM_004580.4(RAB27A): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs145253993 GRCh38 Chromosome 15, 55234918: 55234918
39 RAB27A NM_004580.4(RAB27A): c.418C> G (p.Gln140Glu) single nucleotide variant Uncertain significance rs150463407 GRCh38 Chromosome 15, 55223938: 55223938
40 RAB27A NM_004580.4(RAB27A): c.418C> G (p.Gln140Glu) single nucleotide variant Uncertain significance rs150463407 GRCh37 Chromosome 15, 55516136: 55516136
41 RAB27A NM_004580.4(RAB27A): c.621G> A (p.Thr207=) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 55205552: 55205552
42 RAB27A NM_004580.4(RAB27A): c.621G> A (p.Thr207=) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 55497750: 55497750
43 RAB27A NM_004580.4(RAB27A): c.467+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 55223888: 55223888
44 RAB27A NM_004580.4(RAB27A): c.467+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 55516086: 55516086
45 RAB27A NM_004580.4(RAB27A): c.551G> A (p.Arg184Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 55205622: 55205622
46 RAB27A NM_004580.4(RAB27A): c.551G> A (p.Arg184Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 55497820: 55497820
47 RAB27A NM_004580.4(RAB27A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 55520875: 55520875
48 RAB27A NM_004580.4(RAB27A): c.343+6delT deletion Uncertain significance GRCh38 Chromosome 15, 55228603: 55228603
49 RAB27A NM_004580.4(RAB27A): c.343+6delT deletion Uncertain significance GRCh37 Chromosome 15, 55520801: 55520801
50 RAB27A NM_004580.4(RAB27A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 55228677: 55228677

Expression for Griscelli Syndrome, Type 2

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

Pathways for Griscelli Syndrome, Type 2

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 lysosome GO:0005764 9.43 MYO5A RAB27A UNC13D
2 photoreceptor outer segment GO:0001750 9.32 MYO5A RAB27A
3 exocytic vesicle GO:0070382 9.16 RAB27A UNC13D
4 late endosome GO:0005770 9.13 MYO5A RAB27A UNC13D
5 Weibel-Palade body GO:0033093 8.62 RAB27A UNC13D

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte chemotaxis GO:0030595 9.48 IL10 LYST
2 positive regulation of exocytosis GO:0045921 9.46 RAB27A UNC13D
3 defense response to protozoan GO:0042832 9.43 IL10 LYST
4 melanocyte differentiation GO:0030318 9.4 MYO5A RAB27A
5 natural killer cell degranulation GO:0043320 9.37 RAB27A UNC13D
6 pigmentation GO:0043473 9.33 LYST MYO5A RAB27A
7 melanosome localization GO:0032400 9.32 MYO5A RAB27A
8 positive regulation of regulated secretory pathway GO:1903307 9.26 RAB27A UNC13D
9 melanosome transport GO:0032402 9.13 MLPH MYO5A RAB27A
10 exocytosis GO:0006887 9.02 CCL5 MYO5A RAB27A UNC13B UNC13D

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 8.92 MLPH MYO5A UNC13B UNC13D

Sources for Griscelli Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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