GS2
MCID: GRS014
MIFTS: 50

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 56 13 54 39 71
Griscelli Syndrome Type 2 12 52 58 29 6 43 15
Gs2 56 12 52 73
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 12 52 58
Griscelli Syndrome with Hemophagocytic Syndrome 56 12 52
Partial Albinism and Immunodeficiency Syndrome 56 12 52
Paid Syndrome 56 12 52
Griscelli-Pruni��ras Syndrome Type 2 12
Griscelli-Pruniéras Syndrome Type 2 52
Griscelli-Prunieras Syndrome Type 2 58
Griscelli Syndrome 2 73

Characteristics:

Orphanet epidemiological data:

58
griscelli syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

OMIM:

56
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:

31
griscelli syndrome, type 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060833
OMIM 56 607624
OMIM Phenotypic Series 56 PS214450
MeSH 43 C537302
NCIt 49 C111814
MESH via Orphanet 44 C537302
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1868679
Orphanet 58 ORPHA79477
MedGen 41 C1868679
UMLS 71 C1868679

Summaries for Griscelli Syndrome, Type 2

NIH Rare Diseases : 52 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 Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). 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 : 73 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.

Wikipedia : 74 Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal... more...

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 62)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 31.8 SYTL2 RAB27A MYO5A MLPH LYST GLUL
2 macrophage activation syndrome 30.8 UNC13D RAB27A
3 lymphoproliferative syndrome 30.7 UNC13D SH2D1A IL10
4 pancytopenia 30.6 UNC13D STXBP2 STX11 SH2D1A RAB27A
5 immune deficiency disease 30.5 SH2D1A RAB27A IL10 CCL5
6 hemophagocytic lymphohistiocytosis 30.2 UNC13D STXBP2 STX11 SH2D1A RAB27A LYST
7 piebald trait 30.2 UNC13D STXBP2 STX11 RAB27A MYO5A MLPH
8 chediak-higashi syndrome 30.0 UNC13D STXBP2 STX11 RAB27A PRODH LYST
9 griscelli syndrome 30.0 UNC13D SYTL2 STXBP2 STX11 SH2D1A RAB27A
10 autosomal recessive disease 10.6
11 albinism 10.5
12 spotted fever rickettsiosis 10.5 IL10 CCL5
13 orofacial granulomatosis 10.5 IL10 CCL5
14 hemophagocytic lymphohistiocytosis, familial, 5 10.4 STXBP2 STX11
15 primary hemophagocytic lymphohistiocytosis 10.4 UNC13D STX11 RAB27A
16 spastic paraplegia 36, autosomal dominant 10.4 GAS2 GAS1
17 mycetoma 10.4 IL10 CCL5
18 hemophagocytic lymphohistiocytosis, familial, 3 10.4 UNC13D STX11 RAB27A
19 congenital diarrhea 10.4 STXBP2 MYO5A MLPH
20 diarrhea 2, with microvillus atrophy 10.4 STXBP2 MYO5A MLPH
21 primary bacterial infectious disease 10.4 PRODH IL10 CCL5
22 idiopathic neutropenia 10.4 IL10 CCL5
23 localized chondrosarcoma 10.4 GAS2 GAS1
24 autoimmune disease of central nervous system 10.3 PRODH IL10 CCL5
25 griscelli syndrome, type 3 10.3 SYTL2 RAB27A MYO5A MLPH
26 gaucher disease, perinatal lethal 10.3 GAS2 GAS1
27 hermansky-pudlak syndrome 1 10.3 PRODH LYST AP3B1
28 x-linked recessive disease 10.3 SH2D1A PRODH IL10
29 spastic paraplegia 24, autosomal recessive 10.3 GAS2 GAS1
30 vulvovaginitis 10.2 IL10 CCL5
31 glioblastoma multiforme 10.2
32 kallmann syndrome 10.2
33 splenomegaly 10.2
34 hypopigmentation of the skin 10.2
35 selective immunoglobulin deficiency disease 10.2 UNC13D STXBP2 STX11 SH2D1A
36 dysgammaglobulinemia 10.2 UNC13D STXBP2 STX11 SH2D1A
37 lymphoproliferative syndrome 1 10.2 UNC13D STXBP2 STX11 SH2D1A
38 hemophagocytic lymphohistiocytosis, familial, 4 10.1 UNC13D STXBP2 STX11 RAB27A LYST
39 hemophagocytic lymphohistiocytosis, familial, 1 10.1 UNC13D STXBP2 STX11 SH2D1A RAB27A
40 hermansky-pudlak syndrome 10.1 STX11 RAB27A LYST AP3B1 AGFG1
41 lymphatic system disease 10.1 UNC13D STXBP2 STX11 SH2D1A IL10
42 hypertriglyceridemia, familial 10.0
43 myositis 10.0
44 graft-versus-host disease 10.0
45 deficiency anemia 10.0
46 oculocutaneous albinism 10.0
47 hepatic veno-occlusive disease 10.0
48 lymphocytic choriomeningitis 10.0
49 neutropenia 10.0
50 diarrhea 10.0

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:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 pancytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001876
5 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
6 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
7 partial albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0007443
8 hemophagocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012156
9 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
10 neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0001875
11 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
12 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
13 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
14 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
15 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
16 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
17 pulmonary infiltrates 58 31 occasional (7.5%) Occasional (29-5%) HP:0002113
18 petechiae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000967
19 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
20 progressive neurologic deterioration 31 occasional (7.5%) HP:0002344
21 spasticity 31 HP:0001257
22 hypopigmentation of the skin 31 HP:0001010
23 recurrent bacterial infections 31 HP:0002718
24 abnormal cerebellum morphology 31 HP:0001317
25 silver-gray hair 31 HP:0002218
26 accumulation of melanosomes in melanocytes 31 HP:0001008
27 melanin pigment aggregation in hair shafts 31 HP:0002220
28 reduced delayed hypersensitivity 31 HP:0002972

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 AP3B1 GAS1 GLUL IL10 LYST MLPH
2 immune system MP:0005387 10 AP3B1 CCL5 IL10 LYST MLPH MYO5A
3 integument MP:0010771 9.76 AP3B1 IL10 LYST MLPH MYO5A PNPLA1
4 limbs/digits/tail MP:0005371 9.5 AP3B1 GAS1 IL10 LYST MYO5A PNPLA1
5 pigmentation MP:0001186 9.17 AP3B1 GAS1 LYST MLPH MYO5A PRODH

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:

40
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. 56 6
15163896 2004
2
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. 56 6
12522785 2003
3
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 56 6
12058346 2002
4
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 56 6
10835631 2000
5
A kindred with Griscelli disease: spectrum of neurological involvement. 56 6
8319705 1993
6
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 54 61 6
16278825 2006
7
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. 6
12531900 2003
8
Hypomelanosis, immunity, central nervous system: no more "and", not the end. 56
12522786 2003
9
Comment on Elejalde syndrome and relationship with Griscelli syndrome. 56
12522801 2003
10
Griscelli syndrome types 1 and 2. 56
12452176 2002
11
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. 56
10704277 2000
12
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. 56
9486701 1998
13
Griscelli syndrome: report of three cases. 56
8597818 1995
14
Partial albinism with immunodeficiency (Griscelli syndrome). 56
7996360 1994
15
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). 56
8446567 1993
16
Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. 56
1490625 1992
17
A syndrome associating partial albinism and immunodeficiency. 56
707528 1978
18
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. 54 61
20370853 2010
19
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. 54 61
19953648 2010
20
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 54 61
19704116 2009
21
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). 54 61
18991284 2008
22
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. 54 61
18350256 2008
23
[Defect in lytic granule exocytosis: several causes, a same effect]. 54 61
16962048 2006
24
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. 54 61
12446441 2003
25
Griscelli syndrome type 2. 61
31199490 2020
26
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 61
31233462 2019
27
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 61
30971555 2019
28
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 61
29875956 2018
29
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 61
28585352 2017
30
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 61
28484936 2017
31
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. 61
26960655 2016
32
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). 61
25544030 2015
33
Seizure as the presenting manifestation in Griscelli syndrome type 2. 61
25801174 2015
34
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 61
25312756 2015
35
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. 61
25564401 2015
36
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 61
25382070 2015
37
Cerebellar involvement of Griscelli syndrome type 2. 61
25315806 2014
38
An Indian boy with griscelli syndrome type 2: case report and review of literature. 61
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. 61
24584932 2014
40
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. 61
24678334 2014
41
Rab27a was identified as a prognostic biomaker by mRNA profiling, correlated with malignant progression and subtype preference in gliomas. 61
24587032 2014
42
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders. 61
23810987 2013
43
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. 61
23714271 2013
44
[A hemophagocytic syndrome revealing a Griscelli syndrome type 2]. 61
23906575 2013
45
Mimics and rare presentations of pediatric demyelination. 61
23608693 2013
46
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. 61
22294731 2012
47
[Secretory lysosome disorders in the immune synapse and other tissues]. 61
22032885 2012
48
Human NK cell lytic granules and regulation of their exocytosis. 61
23162553 2012
49
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. 61
22111599 2011
50
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. 61
20591709 2010

Variations for Griscelli Syndrome, Type 2

ClinVar genetic disease variations for Griscelli Syndrome, Type 2:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB27A NM_183235.3(RAB27A):c.239+3A>GSNV Pathogenic 5983 15:55522596-55522596 15:55230398-55230398
2 RAB27A RAB27A, 550C-TSNV Pathogenic 5984
3 RAB27A RAB27A, 67.5-KB DELdeletion Pathogenic 5985
4 RAB27A NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)SNV Pathogenic 5982 rs28938176 15:55522621-55522621 15:55230423-55230423
5 RAB27A NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro)SNV Pathogenic 5986 rs104894498 15:55516165-55516165 15:55223967-55223967
6 RAB27A NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro)SNV Pathogenic 5987 rs104894499 15:55516100-55516100 15:55223902-55223902
7 RAB27A NM_183235.3(RAB27A):c.51_52CT[1] (p.Ser18fs)short repeat Pathogenic 5988 15:55527079-55527080 15:55234881-55234882
8 RAB27A RAB27A, IVS5, G-C, +1SNV Pathogenic 5989
9 RAB27A NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)SNV Pathogenic 5990 rs104894500 15:55516202-55516202 15:55224004-55224004
10 RAB27A NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)SNV Pathogenic 436458 rs200956636 15:55497821-55497821 15:55205623-55205623
11 RAB27A NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)SNV Pathogenic 436459 rs141281020 15:55527131-55527131 15:55234933-55234933
12 RAB27A NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer)deletion Pathogenic 451279 rs1555394745 15:55527114-55527115 15:55234916-55234917
13 RAB27A deletion Pathogenic 468590 15:55228589-55234954
14 RAB27A NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)short repeat Pathogenic 640583 15:55516130-55516131 15:55223932-55223933
15 RAB27A NC_000015.9:g.(?_55516067)_(55516230_?)deldeletion Pathogenic 639378 15:55516067-55516230 15:55223869-55224032
16 RAB27A NC_000015.9:g.(?_55516067)_(55527152_?)deldeletion Pathogenic 641551 15:55516067-55527152 15:55223869-55234954
17 RAB27A NC_000015.9:g.(?_55526960)_(55527152_?)deldeletion Pathogenic 650701 15:55526960-55527152 15:55234762-55234954
18 RAB27A NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)deletion Likely pathogenic 417958 rs767481076 15:55497853-55497857 15:55205655-55205659
19 RAB27A NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)SNV Likely pathogenic 419794 rs753966933 15:55520906-55520906 15:55228708-55228708
20 RAB27A NM_183235.3(RAB27A):c.467+1G>CSNV Likely pathogenic 582014 rs756071120 15:55516086-55516086 15:55223888-55223888
21 RAB27A NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn)SNV Conflicting interpretations of pathogenicity 316650 rs540520068 15:55522671-55522671 15:55230473-55230473
22 RAB27A NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)SNV Conflicting interpretations of pathogenicity 5991 rs104894497 15:55520891-55520891 15:55228693-55228693
23 RAB27A NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)SNV Uncertain significance 316647 rs757760608 15:55497845-55497845 15:55205647-55205647
24 RAB27A NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe)SNV Uncertain significance 536460 rs1259290779 15:55516189-55516189 15:55223991-55223991
25 RAB27A NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)SNV Uncertain significance 536463 rs145253993 15:55527116-55527116 15:55234918-55234918
26 RAB27A NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)SNV Uncertain significance 536462 rs150463407 15:55516136-55516136 15:55223938-55223938
27 RAB27A NM_183235.3(RAB27A):c.621G>A (p.Thr207=)SNV Uncertain significance 575435 rs764546558 15:55497750-55497750 15:55205552-55205552
28 RAB27A NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)SNV Uncertain significance 640213 15:55527039-55527039 15:55234841-55234841
29 RAB27A NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)SNV Uncertain significance 642121 15:55527122-55527122 15:55234924-55234924
30 RAB27A NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)SNV Uncertain significance 577472 rs141362723 15:55497820-55497820 15:55205622-55205622
31 RAB27A NM_183235.3(RAB27A):c.343+6deldeletion Uncertain significance 569432 rs1277146219 15:55520801-55520801 15:55228603-55228603
32 RAB27A NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)SNV Uncertain significance 566199 rs137960099 15:55520875-55520875 15:55228677-55228677
33 RAB27A NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)SNV Uncertain significance 574733 rs151048993 15:55497751-55497751 15:55205553-55205553
34 RAB27A NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)SNV Uncertain significance 665092 15:55497812-55497812 15:55205614-55205614
35 RAB27A NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)SNV Uncertain significance 655022 15:55497828-55497828 15:55205630-55205630
36 RAB27A NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)SNV Uncertain significance 665149 15:55497853-55497853 15:55205655-55205655
37 RAB27A NM_183235.3(RAB27A):c.195C>G (p.Gly65=)SNV Likely benign 536461 rs897453247 15:55522643-55522643 15:55230445-55230445

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

73
# 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 10.13 UNC13D SYTL2 RAB27A MLPH
2 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 melanosome GO:0042470 9.43 SYTL2 RAB27A MYO5A
2 lipid droplet GO:0005811 9.33 PNPLA5 PNPLA4 PNPLA1
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 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 STXBP2 STX11 MYO5A LYST AP3B1
2 intracellular protein transport GO:0006886 9.8 SYTL2 STX11 RAB27A MLPH AP3B1
3 lipid catabolic process GO:0016042 9.71 PNPLA5 PNPLA4 PNPLA1
4 melanocyte differentiation GO:0030318 9.55 RAB27A MYO5A
5 lipid homeostasis GO:0055088 9.54 PNPLA5 PNPLA4 PNPLA1
6 melanosome organization GO:0032438 9.51 LYST AP3B1
7 pigmentation GO:0043473 9.5 RAB27A MYO5A LYST
8 regulation of mast cell degranulation GO:0043304 9.49 UNC13D STXBP2
9 natural killer cell degranulation GO:0043320 9.48 UNC13D RAB27A
10 melanosome localization GO:0032400 9.46 RAB27A MYO5A
11 positive regulation of regulated secretory pathway GO:1903307 9.43 UNC13D RAB27A
12 triglyceride catabolic process GO:0019433 9.43 PNPLA5 PNPLA4 PNPLA1
13 vesicle-mediated transport GO:0016192 9.43 SYTL2 STXBP2 STX11 RAB27A MYO5A AP3B1
14 melanosome transport GO:0032402 9.33 RAB27A MYO5A MLPH
15 exocytosis GO:0006887 9.17 UNC13D SYTL2 STXBP2 STX11 RAB27A MYO5A

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 9.26 UNC13D SYTL2 MYO5A MLPH
2 triglyceride lipase activity GO:0004806 8.8 PNPLA5 PNPLA4 PNPLA1

Sources for Griscelli Syndrome, Type 2

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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