GS
MCID: GRS003
MIFTS: 51

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 75 53 25 59 37 15
Griscelli Disease 75 53 29 6
Partial Albinism-Immunodeficiency Syndrome 12 59
Immunodeficiency Syndrome with Hypopigmentation 59
Hypopigmentation Immunodeficiency Disease 25
Hypopigmentation-Immunodeficiency Disease 72
Partial Albinism with Immunodeficiency 25
Ch��diak-Higashi-Like Syndrome 12
Griscelli-Pruni��ras Syndrome 12
Chediak-Higashi-Like Syndrome 59
Griscelli-Prunieras Syndrome 59
Gs 25

Characteristics:

Orphanet epidemiological data:

59
griscelli syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060831
KEGG 37 H02022
ICD10 33 E70.3
ICD10 via Orphanet 34 E70.3
UMLS 72 C0398794

Summaries for Griscelli Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 381DefinitionGriscelli 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).EpidemiologyTo 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 descriptionGS 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.EtiologyGS 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 methodsThe 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 diagnosisGS 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 diagnosisAntenatal 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 counselingGS is an autosomal recessive disorder and genetic counseling informing affected couples of a 25% risk of having an affected child is possible.Management and treatmentTreatment 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.PrognosisIf 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 griscelli disease, is related to griscelli syndrome, type 1 and griscelli syndrome, type 3. 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 autosomal recessive 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 : 37
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 : 75 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 350)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 34.6 RAB27A MYO5A GLUL
2 griscelli syndrome, type 3 33.2 SYTL2 RAB27A MYO5A MLPH KLK3
3 griscelli syndrome, type 2 32.6 UNC13D RAB27A MYO5A MLPH LYST IL10
4 macrophage activation syndrome 30.9 UNC13D RAB27A
5 chediak-higashi syndrome 30.6 UNC13D RAB27A LYST
6 hemophagocytic lymphohistiocytosis 30.2 UNC13D RAB27A LYST IL10
7 piebald trait 30.1 RAB27A MYO5A MLPH LYST
8 mccune-albright syndrome 11.7
9 pseudohypoparathyroidism, type ic 11.6
10 acrocephalopolydactylous dysplasia 11.6
11 pseudohypoparathyroidism 11.5
12 glutamine deficiency, congenital 11.5
13 cinca syndrome 11.5
14 pseudohypoparathyroidism, type ib 11.5
15 acromegaly 11.5
16 pseudohypoparathyroidism, type ii 11.5
17 goodpasture syndrome 11.4
18 albinism, oculocutaneous, type ib 11.2
19 megaloblastic anemia 1 11.2
20 gitelman syndrome 11.2
21 gerstmann syndrome 11.2
22 gilbert syndrome 11.2
23 cholera 10.8
24 pertussis 10.8
25 albinism 10.7
26 autosomal recessive disease 10.7
27 adenoma 10.5
28 pancytopenia 10.5
29 pseudohypoparathyroidism, type ia 10.5
30 hemophagocytic lymphohistiocytosis, familial, 4 10.5 UNC13D RAB27A
31 immune deficiency disease 10.4
32 fibrous dysplasia 10.4
33 hematopoietic stem cell transplantation 10.4
34 vulvovaginitis 10.3 IL10 CCL5
35 agammaglobulinemia 10.3
36 glioma 10.3
37 glial tumor 10.3
38 neuroblastoma 1 10.3
39 pseudopseudohypoparathyroidism 10.3
40 orofacial granulomatosis 10.3 IL10 CCL5
41 precocious puberty 10.3
42 pseudohypoparathyroidism with albright hereditary osteodystrophy 10.3
43 pituitary tumors 10.3
44 autoimmune disease of eyes, ear, nose and throat 10.3 IL10 CCL5
45 choroideremia 10.3 RAB27A AGFG1
46 acrocephalopolydactyly 10.2
47 mycetoma 10.2 IL10 CCL5
48 spotted fever 10.2 IL10 CCL5
49 oculocutaneous albinism 10.2
50 hepatic veno-occlusive disease 10.2

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
2 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
3 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
4 silver-gray hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002218
5 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
6 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
7 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
8 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
9 abnormality of neutrophils 59 32 frequent (33%) Frequent (79-30%) HP:0001874
10 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
11 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
12 abnormal circulating lipid concentration 32 frequent (33%) HP:0003119
13 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
14 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
15 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
16 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
17 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
18 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
19 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
20 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
21 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
22 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
23 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
24 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
25 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
26 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
27 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
28 bone marrow hypocellularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0005528
29 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
30 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
31 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
32 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
33 pedal edema 32 occasional (7.5%) HP:0010741
34 abnormal eyelash morphology 32 occasional (7.5%) HP:0000499
35 abnormal eyebrow morphology 32 occasional (7.5%) HP:0000534
36 abnormality of movement 59 Occasional (29-5%)
37 abnormality of the eyelashes 59 Occasional (29-5%)
38 abnormality of the eyebrow 59 Occasional (29-5%)
39 abnormality of lipid metabolism 59 Frequent (79-30%)
40 edema of the lower limbs 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Griscelli Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.02 LYST MLPH MYO5A 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 Disease 29

Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

41
Skin, Brain, Eye, Lymph Node, T Cells, Bone, Bone Marrow

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 215)
# Title Authors PMID Year
1
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 38 71
16278825 2006
2
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. 38 71
15163896 2004
3
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). 38 71
12897212 2003
4
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. 38 71
12531900 2003
5
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. 38 71
12522785 2003
6
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 38 71
12058346 2002
7
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 38 71
12148598 2002
8
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 38 71
10835631 2000
9
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. 38 71
10704277 2000
10
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. 38 71
9207796 1997
11
A kindred with Griscelli disease: spectrum of neurological involvement. 38 71
8319705 1993
12
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 38
31233462 2019
13
Griscelli syndrome type 2. 38
31199490 2019
14
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 38
30971555 2019
15
Myosin Va and spermine synthase: partners in exosome transport. 38
30967493 2019
16
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. 38
30934652 2019
17
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. 38
30778805 2019
18
[Griscelli syndrome type 3: A new case]. 38
30389201 2018
19
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. 38
30129079 2018
20
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome. 38
30338556 2018
21
Oral features of Griscelli syndrome type II: A rare case report. 38
30207398 2018
22
Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. 38
29398817 2018
23
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 38
29875956 2018
24
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. 38
28836324 2017
25
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 38
28585352 2017
26
Analogs of human genetic skin disease in domesticated animals. 38
28831430 2017
27
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 38
28484936 2017
28
Griscelli syndrome: A rare disorder. 38
28681765 2017
29
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 38
27001505 2017
30
Further evidence for genotype-phenotype disparity in Griscelli syndrome. 38
27416802 2017
31
Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis 38
27095280 2017
32
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. 38
28357189 2017
33
Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions. 38
27757761 2017
34
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes. 38
28761265 2017
35
"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. 38
28232922 2017
36
Griscelli syndrome type-3. 38
27990386 2016
37
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. 38
27434021 2016
38
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 38
27416089 2016
39
Severe anemia due to parvovirus B19 in a silver haired boy. 38
26960654 2016
40
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. 38
26960655 2016
41
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. 38
26337734 2015
42
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. 38
26622160 2015
43
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). 38
25544030 2015
44
Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. 38
25121636 2015
45
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 38
25312756 2015
46
Seizure as the presenting manifestation in Griscelli syndrome type 2. 38
25801174 2015
47
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. 38
25564401 2015
48
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 38
25382070 2015
49
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. 38
25283056 2014
50
A case of Griscelli syndrome. 38
25419745 2014

Variations for Griscelli Syndrome

ClinVar genetic disease variations for Griscelli Syndrome:

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAB27A NM_183235.3(RAB27A): c.149del (p.Arg50fs) deletion Pathogenic rs770601673 15:55526984-55526984 15:55234786-55234786
2 RAB27A NM_183235.3(RAB27A): c.167G> A (p.Ser56Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs540520068 15:55522671-55522671 15:55230473-55230473
3 RAB27A NM_183235.3(RAB27A): c.-58A> G single nucleotide variant Uncertain significance rs572723752 15:55562398-55562398 15:55270200-55270200
4 RAB27A NM_183235.3(RAB27A): c.213G> T (p.Gln71His) single nucleotide variant Uncertain significance rs776920896 15:55522625-55522625 15:55230427-55230427
5 RAB27A NM_183235.3(RAB27A): c.*858G> A single nucleotide variant Uncertain significance rs886051309 15:55496847-55496847 15:55204649-55204649
6 RAB27A NM_183235.3(RAB27A): c.*425G> A single nucleotide variant Uncertain significance rs886051313 15:55497280-55497280 15:55205082-55205082
7 RAB27A NM_183235.3(RAB27A): c.*1296T> G single nucleotide variant Uncertain significance rs560689599 15:55496409-55496409 15:55204211-55204211
8 RAB27A NM_183235.3(RAB27A): c.*1170T> G single nucleotide variant Uncertain significance rs574506558 15:55496535-55496535 15:55204337-55204337
9 RAB27A NM_183235.3(RAB27A): c.*1156T> G single nucleotide variant Uncertain significance rs747438491 15:55496549-55496549 15:55204351-55204351
10 RAB27A NM_183235.3(RAB27A): c.*2334C> A single nucleotide variant Uncertain significance rs886051304 15:55495371-55495371 15:55203173-55203173
11 RAB27A NM_183235.3(RAB27A): c.*2241_*2247del deletion Uncertain significance rs565165091 15:55495458-55495464 15:55203260-55203266
12 RAB27A NM_183235.3(RAB27A): c.*1915_*1920delinsTAAATAAAT indel Uncertain significance rs886051305 15:55495785-55495790 15:55203587-55203592
13 RAB27A NM_183235.3(RAB27A): c.*723C> T single nucleotide variant Uncertain significance rs886051311 15:55496982-55496982 15:55204784-55204784
14 RAB27A NM_183235.3(RAB27A): c.*162G> C single nucleotide variant Uncertain significance rs886051315 15:55497543-55497543 15:55205345-55205345
15 RAB27A NM_004580.4(RAB27A): c.343+3_343+6delAAGT deletion Uncertain significance rs886051317 15:55520801-55520804 15:55228603-55228606
16 RAB27A NM_183235.3(RAB27A): c.*1922_*1923insTAA insertion Uncertain significance rs555244731 15:55495782-55495783 15:55203584-55203585
17 RAB27A NM_183235.3(RAB27A): c.*1878T> C single nucleotide variant Uncertain significance rs552625680 15:55495827-55495827 15:55203629-55203629
18 RAB27A NM_183235.3(RAB27A): c.*1863C> T single nucleotide variant Uncertain significance rs566144766 15:55495842-55495842 15:55203644-55203644
19 RAB27A NM_183235.3(RAB27A): c.*1672T> C single nucleotide variant Uncertain significance rs886051306 15:55496033-55496033 15:55203835-55203835
20 RAB27A NM_183235.3(RAB27A): c.*1612dup duplication Uncertain significance rs886051307 15:55496093-55496093 15:55203895-55203895
21 RAB27A NM_183235.3(RAB27A): c.*1485G> A single nucleotide variant Uncertain significance rs886051308 15:55496220-55496220 15:55204022-55204022
22 RAB27A NM_183235.3(RAB27A): c.*1473T> C single nucleotide variant Uncertain significance rs568895039 15:55496232-55496232 15:55204034-55204034
23 RAB27A NM_183235.3(RAB27A): c.*730T> C single nucleotide variant Uncertain significance rs886051310 15:55496975-55496975 15:55204777-55204777
24 RAB27A NM_183235.3(RAB27A): c.*561A> T single nucleotide variant Uncertain significance rs886051312 15:55497144-55497144 15:55204946-55204946
25 RAB27A NM_183235.3(RAB27A): c.*388G> C single nucleotide variant Uncertain significance rs886051314 15:55497317-55497317 15:55205119-55205119
26 RAB27A NM_183235.3(RAB27A): c.*121A> G single nucleotide variant Uncertain significance rs886051316 15:55497584-55497584 15:55205386-55205386
27 RAB27A NM_183235.3(RAB27A): c.526A> T (p.Met176Leu) single nucleotide variant Uncertain significance rs757760608 15:55497845-55497845 15:55205647-55205647
28 RAB27A NM_183235.3(RAB27A): c.-142-46A> G single nucleotide variant Uncertain significance rs8031271 15:55562528-55562528 15:55270330-55270330
29 RAB27A NM_183235.3(RAB27A): c.*1678T> A single nucleotide variant Uncertain significance rs540548388 15:55496027-55496027 15:55203829-55203829
30 RAB27A NM_183235.3(RAB27A): c.*1392A> C single nucleotide variant Likely benign rs12907749 15:55496313-55496313 15:55204115-55204115
31 RAB27A NM_183235.3(RAB27A): c.*731G> T single nucleotide variant Likely benign rs76097718 15:55496974-55496974 15:55204776-55204776
32 RAB27A NM_183235.3(RAB27A): c.*387A> G single nucleotide variant Likely benign rs73407873 15:55497318-55497318 15:55205120-55205120
33 RAB27A NM_183235.3(RAB27A): c.*2349A> G single nucleotide variant Likely benign rs76970799 15:55495356-55495356 15:55203158-55203158
34 RAB27A NM_183235.3(RAB27A): c.*2067C> G single nucleotide variant Likely benign rs7168226 15:55495638-55495638 15:55203440-55203440
35 RAB27A NM_183235.3(RAB27A): c.*842G> A single nucleotide variant Likely benign rs59982153 15:55496863-55496863 15:55204665-55204665
36 RAB27A NM_183235.3(RAB27A): c.-142-5A> G single nucleotide variant Likely benign rs61436564 15:55562487-55562487 15:55270289-55270289
37 RAB27A NM_183235.3(RAB27A): c.*1594A> G single nucleotide variant Benign rs1061821 15:55496111-55496111 15:55203913-55203913
38 RAB27A NM_183235.3(RAB27A): c.*1427G> A single nucleotide variant Benign rs1061875 15:55496278-55496278 15:55204080-55204080
39 RAB27A NM_183235.3(RAB27A): c.*936C> A single nucleotide variant Benign rs1061870 15:55496769-55496769 15:55204571-55204571
40 RAB27A NM_183235.3(RAB27A): c.*949A> G single nucleotide variant Benign rs1061873 15:55496756-55496756 15:55204558-55204558
41 RAB27A NM_183235.2(RAB27A): c.*2554C> T single nucleotide variant Benign rs28564077 15:55495151-55495151 15:55202953-55202953
42 RAB27A NM_183235.3(RAB27A): c.*14C> T single nucleotide variant Benign rs1050931 15:55497691-55497691 15:55205493-55205493
43 RAB27A NM_183235.3(RAB27A): c.*1742A> G single nucleotide variant Benign rs1061824 15:55495963-55495963 15:55203765-55203765
44 RAB27A NM_183235.3(RAB27A): c.*852C> T single nucleotide variant Benign rs3179664 15:55496853-55496853 15:55204655-55204655
45 RAB27A NM_183235.3(RAB27A): c.*1662A> T single nucleotide variant Benign rs1061823 15:55496043-55496043 15:55203845-55203845
46 RAB27A NM_183235.3(RAB27A): c.*1418T> A single nucleotide variant Benign rs1061874 15:55496287-55496287 15:55204089-55204089
47 RAB27A NM_183235.3(RAB27A): c.*1647T> G single nucleotide variant Benign rs1061822 15:55496058-55496058 15:55203860-55203860
48 RAB27A NM_183235.3(RAB27A): c.*2007G> A single nucleotide variant Benign rs6493769 15:55495698-55495698 15:55203500-55203500
49 RAB27A NM_183235.3(RAB27A): c.*1931T> C single nucleotide variant Benign rs6493770 15:55495774-55495774 15:55203576-55203576
50 RAB27A NM_183235.3(RAB27A): c.*1926T> A single nucleotide variant Benign rs8028801 15:55495779-55495779 15:55203581-55203581

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 10.23 UNC13D SYTL2 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 late endosome GO:0005770 9.54 UNC13D RAB27A MYO5A
2 exocytic vesicle GO:0070382 9.33 UNC13D SYTL2 RAB27A
3 multivesicular body membrane GO:0032585 9.32 RAB27B RAB27A
4 Weibel-Palade body GO:0033093 9.26 UNC13D RAB27A
5 secretory granule GO:0030141 9.26 RAB27B RAB27A MYO5A KLK3
6 melanosome GO:0042470 8.92 SYTL2 RAB27B RAB27A MYO5A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.65 SYTL2 RAB28 RAB27B RAB27A MLPH
2 Rab protein signal transduction GO:0032482 9.63 RAB28 RAB27B RAB27A
3 leukocyte chemotaxis GO:0030595 9.52 LYST IL10
4 defense response to protozoan GO:0042832 9.51 LYST IL10
5 pigmentation GO:0043473 9.5 RAB27A MYO5A LYST
6 melanocyte differentiation GO:0030318 9.49 RAB27A MYO5A
7 multivesicular body sorting pathway GO:0071985 9.48 RAB27B RAB27A
8 natural killer cell degranulation GO:0043320 9.43 UNC13D RAB27A
9 positive regulation of regulated secretory pathway GO:1903307 9.4 UNC13D RAB27A
10 melanosome localization GO:0032400 9.37 RAB27A MYO5A
11 exocytosis GO:0006887 9.35 UNC13D SYTL2 RAB27A MYO5A CCL5
12 positive regulation of exocytosis GO:0045921 9.33 UNC13D RAB27B RAB27A
13 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 9.16 RAB27B RAB27A
2 GDP binding GO:0019003 9.13 RAB28 RAB27B RAB27A
3 Rab GTPase binding GO:0017137 8.92 UNC13D SYTL2 MYO5A MLPH

Sources for Griscelli Syndrome

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
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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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