GS
MCID: GRS003
MIFTS: 53

Griscelli Syndrome (GS)

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

Aliases & Classifications for Griscelli Syndrome

MalaCards integrated aliases for Griscelli Syndrome:

Name: Griscelli Syndrome 12 74 52 25 58 36 29 6 15
Partial Albinism-Immunodeficiency Syndrome 12 58
Chediak-Higashi-Like Syndrome 12 58
Griscelli-Prunieras Syndrome 12 58
Griscelli Disease 74 52
Immunodeficiency Syndrome with Hypopigmentation 58
Hypopigmentation Immunodeficiency Disease 25
Hypopigmentation-Immunodeficiency Disease 71
Partial Albinism with Immunodeficiency 25
Gs 25

Characteristics:

Orphanet epidemiological data:

58
griscelli syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

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


Summaries for Griscelli Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 381 Definition Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3). Epidemiology To date, approximately 150 cases have been reported, predominantly in Turkish and Mediterranean populations. GS type 2 appears to be the most common of the three known types, while GS type 3 is the least common. Clinical description GS occurs in infancy to childhood. In addition to the silvery-gray sheen of the hair and the light-colored skin, GS type 1 patients present with delayed motor development, intellectual disability and hypotonia . GS type 2 patients have the same hypopigmentation features but in association with immune pathology. Patients exhibit a lymphocyte cytotoxic defect resulting in an uncontrolled T-lymphocyte and macrophage-activation syndrome, also known as hemophagocytic syndrome (HLH), in which activated T cells and macrophages infiltrate the lymph nodes and other organs (including the brain), producing hemophagocytosis. Patients with GS type 2 can present neurological symptoms due to brain infiltration by the activated hematopoietic cells. In GS type 3 patients, hypopigmentation of the skin and hair is the only feature. Etiology GS type 1 is caused by a mutation in the myosin Va (MYO5A) gene located on chromosome 15q21 and likely corresponds to Elejalde disease. GS type 2 is caused by mutations in the RAB27A encoding gene. Myosin-5a and RAB27A genes have been localized to the same chromosomal 15q21 region and encode for proteins which are key effectors of intracellular vesicular transport. Myosin Va regulates organelle transport in both melanocytes and neuronal cells, whereas RAB27A, regulates exocytic pathways, especially the cytotoxic granule exocytosis. The cytotoxic defect caused by RAB27A mutations is responsible for the hemophagocytic syndrome observed. GS type 3 is due to mutations in the MLPH gene, a gene encoding melanophilin, which forms a protein complex with Rab 27a and myosin Va, and participates in melanosome transport in melanocytes. Diagnostic methods The diagnosis of the three types of GS can be established by the clinical signs and light microscopic examination, evidencing large clumps of pigment in hair shafts and the accumulation of mature melanosomes in melanocytes. A decrease in T and NK lymphocyte degranulation and cytotoxicity characterize GS type 2. No immunological or cytotoxic defects have been observed in GS type 1 or 3. Thus, based on the patient's clinical and biological features, sequencing of the corresponding causative gene allows confirmation of the type of GS. Differential diagnosis GS can be distinguished from Chediak-Higashi syndrome by the lack of giant granules in granulocytes of GS patients. The differential diagnosis of GS type 1 also includes Elejalde disease. Antenatal diagnosis Antenatal diagnosis of GS type 1 and 2 can be performed through chorionic villus sampling by the sequencing of the MYO5A or RAB27A gene, respectively. Genetic counseling GS is an autosomal recessive disorder and genetic counseling informing affected couples of a 25% risk of having an affected child is possible. Management and treatment Treatment for GS type 1 is only symptomatic. In GS type 2, the hemophagocytic syndrome is often fatal and the only cure is hematopoietic stem cell transplantation (HSCT). Currently there is no specific management for GS type 3. Prognosis If not treated by HSCT, the prognosis for long-term survival in GS type 2 is relatively poor, with many patients not surviving the first decade. The prognosis of GS type 1 is good. GS type 3 should be better considered as a pigmentation phenotype rather than a pathology with a prognosis similar to the control population. Visit the Orphanet disease page for more resources.

MalaCards based summary : Griscelli Syndrome, also known as partial albinism-immunodeficiency syndrome, is related to griscelli syndrome, type 3 and griscelli syndrome, type 1. An important gene associated with Griscelli Syndrome 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, brain and eye, and related phenotypes are hypopigmented skin patches and premature graying of hair

Disease Ontology : 12 An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.

Genetics Home Reference : 25 Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.

KEGG : 36 Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia.

Wikipedia : 74 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Related Diseases for Griscelli Syndrome

Diseases in the Griscelli Syndrome family:

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

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

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 3 34.8 RAB27A MYO5A MLPH
2 griscelli syndrome, type 1 34.5 RAB27A MYO5A MLPH LYST GLUL GAS2
3 griscelli syndrome, type 2 32.8 UNC13D STXBP2 STX11 SH2D1A RAB27A PRODH
4 pancytopenia 31.0 UNC13D STXBP2 STX11 SH2D1A RAB27A
5 macrophage activation syndrome 31.0 UNC13D RAB27A
6 lymphoproliferative syndrome 30.7 UNC13D SLAMF6 SH2D1A IL10
7 hemophagocytic lymphohistiocytosis 30.7 UNC13D STXBP2 STX11 SH2D1A RAB27A LYST
8 piebald trait 30.5 UNC13D STXBP2 STX11 RAB27B RAB27A MYO5A
9 chediak-higashi syndrome 30.4 UNC13D STXBP2 STX11 SH2D1A RAB27A PRODH
10 hemophagocytic lymphohistiocytosis, familial, 1 30.2 UNC13D STXBP2 STX11 SH2D1A RAB27A
11 hermansky-pudlak syndrome 29.9 UNC13D STXBP2 STX11 RAB27A LYST AP3B1
12 lymphoproliferative syndrome, x-linked, 1 29.7 UNC13D STXBP2 STX11 SLAMF6 SH2D1A RAB27A
13 gitelman syndrome 11.8
14 mccune-albright syndrome 11.7
15 pseudohypoparathyroidism, type ic 11.6
16 acrocephalopolydactylous dysplasia 11.6
17 pseudohypoparathyroidism 11.5
18 glutamine deficiency, congenital 11.5
19 cinca syndrome 11.5
20 osseous heteroplasia, progressive 11.5
21 pseudohypoparathyroidism, type ib 11.5
22 acromegaly 11.5
23 pseudohypoparathyroidism, type ii 11.5
24 goodpasture syndrome 11.4
25 albinism, oculocutaneous, type ib 11.2
26 imerslund-grasbeck syndrome 1 11.2
27 gerstmann syndrome 11.2
28 gilbert syndrome 11.2
29 cholera 10.9
30 pertussis 10.8
31 albinism 10.8
32 autosomal recessive disease 10.7
33 adenoma 10.5
34 pseudohypoparathyroidism, type ia 10.5
35 fibrous dysplasia 10.4
36 immune deficiency disease 10.4
37 albinism, oculocutaneous, type v 10.4 MYO5A LYST
38 hemophagocytic lymphohistiocytosis, familial, 5 10.4 STXBP2 STX11
39 diarrhea 2, with microvillus atrophy 10.4 STXBP2 MYO5A MLPH
40 agammaglobulinemia 10.4
41 primary hemophagocytic lymphohistiocytosis 10.3 UNC13D STXBP2 STX11 RAB27A
42 pseudopseudohypoparathyroidism 10.3
43 glioma 10.3
44 pituitary tumors 10.3
45 glial tumor 10.3
46 hermansky-pudlak syndrome 2 10.3 STXBP2 LYST AP3B1
47 selective immunoglobulin deficiency disease 10.3 STXBP2 SLAMF6 SH2D1A
48 spastic paraplegia 36, autosomal dominant 10.3 GAS2 GAS1
49 hemophagocytic lymphohistiocytosis, familial, 3 10.3 UNC13D STX11 SH2D1A RAB27A
50 neuroblastoma 10.3

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



Diseases related to Griscelli Syndrome

Symptoms & Phenotypes for Griscelli Syndrome

Human phenotypes related to Griscelli Syndrome:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
2 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
3 white hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011364
4 silver-gray hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002218
5 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
6 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
7 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
8 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
9 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
10 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
11 decreased circulating antibody level 31 frequent (33%) HP:0004313
12 abnormal circulating lipid concentration 31 frequent (33%) HP:0003119
13 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
16 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
17 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
21 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
22 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
23 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
24 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
25 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
26 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
27 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
28 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
29 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
30 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
31 pedal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010741
32 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
33 seizure 31 occasional (7.5%) HP:0001250
34 abnormal eyelash morphology 31 occasional (7.5%) HP:0000499
35 abnormal eyebrow morphology 31 occasional (7.5%) HP:0000534
36 seizures 58 Occasional (29-5%)
37 abnormality of movement 58 Occasional (29-5%)
38 decreased antibody level in blood 58 Frequent (79-30%)
39 abnormality of the eyelashes 58 Occasional (29-5%)
40 abnormality of lipid metabolism 58 Frequent (79-30%)
41 abnormality of the eyebrow 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Griscelli Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 AP3B1 GAS1 GLUL IL10 LYST MLPH
2 hematopoietic system MP:0005397 10.14 AP3B1 IL10 LYST MYO5A RAB27A RAB27B
3 immune system MP:0005387 10.06 AP3B1 IL10 LYST MLPH MYO5A RAB27A
4 integument MP:0010771 9.86 AP3B1 IL10 LYST MLPH MYO5A PRODH
5 limbs/digits/tail MP:0005371 9.63 AP3B1 GAS1 IL10 LYST MYO5A PRODH
6 pigmentation MP:0001186 9.56 AP3B1 GAS1 LYST MLPH MYO5A PRODH
7 respiratory system MP:0005388 9.17 AP3B1 GAS1 IL10 LYST RAB27A RAB27B

Drugs & Therapeutics for Griscelli Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigations of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476

Search NIH Clinical Center for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

Genetic tests related to Griscelli Syndrome:

# Genetic test Affiliating Genes
1 Griscelli Syndrome 29

Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

40
Skin, Brain, Eye, Lymph Node, T Cells, Bone Marrow, Bone

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 6 61
16278825 2006
2
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. 61 6
15163896 2004
3
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). 61 6
12897212 2003
4
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. 61 6
12531900 2003
5
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. 6 61
12522785 2003
6
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 61 6
12058346 2002
7
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 61 6
10835631 2000
8
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. 61 6
10704277 2000
9
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 6
12148598 2002
10
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. 6
9207796 1997
11
A kindred with Griscelli disease: spectrum of neurological involvement. 6
8319705 1993
12
Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism. 61
32459386 2020
13
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients. 61
32286505 2020
14
Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency. 61
32324696 2020
15
Case series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis. 61
32332189 2020
16
Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A. 61
32275080 2020
17
Transfer of extracellular vesicle-microRNA controls germinal center reaction and antibody production. 61
32073750 2020
18
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. 61
31721180 2020
19
Griscelli syndrome type 2. 61
31199490 2020
20
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 61
31233462 2019
21
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 61
30971555 2019
22
Myosin Va and spermine synthase: partners in exosome transport. 61
30967493 2019
23
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. 61
30934652 2019
24
Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India. 61
30778805 2019
25
[Griscelli syndrome type 3: A new case]. 61
30389201 2018
26
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. 61
30129079 2018
27
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome. 61
30338556 2018
28
Oral features of Griscelli syndrome type II: A rare case report. 61
30207398 2018
29
Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. 61
29398817 2018
30
A lysosome targetable versatile fluorescent probe for imaging viscosity and peroxynitrite with different fluorescence signals in living cells. 61
32254486 2018
31
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 61
29875956 2018
32
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. 61
28836324 2017
33
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 61
28585352 2017
34
Analogs of human genetic skin disease in domesticated animals. 61
28831430 2017
35
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 61
28484936 2017
36
Griscelli syndrome: A rare disorder. 61
28681765 2017
37
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
38
Further evidence for genotype-phenotype disparity in Griscelli syndrome. 61
27416802 2017
39
Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis 61
27095280 2017
40
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. 61
28357189 2017
41
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes. 61
28761265 2017
42
Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions. 61
27757761 2017
43
"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. 61
28232922 2017
44
Griscelli syndrome type-3. 61
27990386 2016
45
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. 61
27434021 2016
46
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 61
27416089 2016
47
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. 61
26960655 2016
48
Severe anemia due to parvovirus B19 in a silver haired boy. 61
26960654 2016
49
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. 61
26337734 2015
50
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. 61
26622160 2015

Variations for Griscelli Syndrome

ClinVar genetic disease variations for Griscelli Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB27A NM_183235.3(RAB27A):c.149del (p.Arg50fs)deletion Pathogenic 504894 rs770601673 15:55526984-55526984 15:55234786-55234786
2 RAB27A NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAATindel Uncertain significance 316615 rs886051305 15:55495785-55495790 15:55203587-55203592
3 RAB27A NM_183235.3(RAB27A):c.*2241_*2247deldeletion Uncertain significance 316609 rs565165091 15:55495458-55495464 15:55203260-55203266
4 RAB27A NM_183235.3(RAB27A):c.343+3_343+6delshort repeat Uncertain significance 316648 rs886051317 15:55520801-55520804 15:55228603-55228606
5 RAB27A NM_183235.3(RAB27A):c.*1922_*1923insTAAinsertion Uncertain significance 316614 rs555244731 15:55495782-55495783 15:55203584-55203585
6 RAB27A NM_183235.3(RAB27A):c.*1612dupduplication Uncertain significance 316623 rs886051307 15:55496092-55496093 15:55203894-55203895
7 RAB27A NM_183235.3(RAB27A):c.*425G>ASNV Uncertain significance 316642 rs886051313 15:55497280-55497280 15:55205082-55205082
8 RAB27A NM_183235.2(RAB27A):c.*2554C>TSNV Benign 369092 rs28564077 15:55495151-55495151 15:55202953-55202953

Expression for Griscelli Syndrome

Search GEO for disease gene expression data for Griscelli Syndrome.

Pathways for Griscelli Syndrome

Pathways related to Griscelli Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 UNC13D RAB27B RAB27A MLPH
2 10.03 UNC13D RAB27A

GO Terms for Griscelli Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 UNC13D STXBP2 STX11 SLAMF6 RAB27B RAB27A
2 recycling endosome GO:0055037 9.61 UNC13D RAB11FIP1 MYO5A
3 melanosome GO:0042470 9.54 RAB27B RAB27A MYO5A
4 exocytic vesicle GO:0070382 9.46 UNC13D RAB27A
5 multivesicular body membrane GO:0032585 9.32 RAB27B RAB27A
6 zymogen granule membrane GO:0042589 9.26 STXBP2 RAB27B
7 late endosome GO:0005770 9.26 UNC13D RAB27B RAB27A MYO5A
8 Weibel-Palade body GO:0033093 9.16 UNC13D RAB27A
9 secretory granule GO:0030141 8.92 STXBP2 RAB27B RAB27A MYO5A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 STXBP2 STX11 RAB11FIP1 MYO5A LYST AP3B1
2 vesicle-mediated transport GO:0016192 9.77 STXBP2 STX11 RAB27A MYO5A AP3B1
3 intracellular protein transport GO:0006886 9.73 STXBP2 STX11 RAB27B RAB27A MLPH AP3B1
4 defense response to protozoan GO:0042832 9.57 LYST IL10
5 leukocyte chemotaxis GO:0030595 9.56 LYST IL10
6 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.55 SLAMF6 SH2D1A
7 exocytosis GO:0006887 9.55 UNC13D STXBP2 STX11 RAB27A MYO5A
8 melanosome organization GO:0032438 9.54 LYST AP3B1
9 melanocyte differentiation GO:0030318 9.52 RAB27A MYO5A
10 multivesicular body sorting pathway GO:0071985 9.51 RAB27B RAB27A
11 positive regulation of exocytosis GO:0045921 9.5 UNC13D RAB27B RAB27A
12 regulation of mast cell degranulation GO:0043304 9.49 UNC13D STXBP2
13 natural killer cell degranulation GO:0043320 9.48 UNC13D RAB27A
14 melanosome localization GO:0032400 9.46 RAB27A MYO5A
15 positive regulation of regulated secretory pathway GO:1903307 9.4 UNC13D RAB27A
16 pigmentation GO:0043473 9.26 RAB27A MYO5A LYST AP3B1
17 melanosome transport GO:0032402 8.92 RAB27B RAB27A MYO5A MLPH

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

# Name GO ID Score Top Affiliating Genes
1 myosin V binding GO:0031489 8.96 RAB27B RAB27A
2 Rab GTPase binding GO:0017137 8.92 UNC13D RAB11FIP1 MYO5A MLPH

Sources for Griscelli Syndrome

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72 UMLS via Orphanet
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