GS
MCID: GRS003
MIFTS: 57

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 77 54 26 60 38 15
Griscelli Disease 77 54 30 6
Partial Albinism-Immunodeficiency Syndrome 12 60
Hypopigmentation Immunodeficiency Disease 26
Hypopigmentation-Immunodeficiency Disease 74
Partial Albinism with Immunodeficiency 26
Chédiak-Higashi-Like Syndrome 60
Griscelli-Pruniéras Syndrome 60
Gs 26

Characteristics:

Orphanet epidemiological data:

60
griscelli syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Griscelli Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 381Disease definitionGriscelli 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 2. An important gene associated with Griscelli Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Peptide hormone metabolism and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and t cells, 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 : 26 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.

Wikipedia : 77 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 153)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 34.3 MYO5A RAB27A
2 griscelli syndrome, type 2 32.7 CCL5 IL10 LYST MLPH MYO5A RAB27A
3 griscelli syndrome, type 3 32.6 KLK3 MLPH MYO5A MYRIP RAB27A SYTL2
4 macrophage activation syndrome 30.3 RAB27A UNC13D
5 chediak-higashi syndrome 30.0 LYST RAB27A UNC13D
6 hemophagocytic lymphohistiocytosis 29.8 IL10 LYST RAB27A UNC13B UNC13D
7 acrocephalopolydactylous dysplasia 11.6
8 mccune-albright syndrome 11.5
9 pseudohypoparathyroidism 11.4
10 cinca syndrome 11.4
11 pseudohypoparathyroidism, type ic 11.2
12 albinism, oculocutaneous, type ib 11.1
13 megaloblastic anemia 1 11.1
14 gitelman syndrome 11.1
15 glutamine deficiency, congenital 11.1
16 gerstmann syndrome 11.1
17 gilbert syndrome 11.0
18 pseudohypoparathyroidism, type ii 11.0
19 pseudohypoparathyroidism, type ib 11.0
20 hemophagocytic lymphohistiocytosis, familial, 4 10.3 RAB27A UNC13D
21 albinism 10.3
22 albright's hereditary osteodystrophy 10.2
23 hematopoietic stem cell transplantation 10.2
24 neuroblastoma 10.2
25 glioma 10.2
26 vulvovaginitis 10.2 CCL5 IL10
27 autoimmune disease of eyes, ear, nose and throat 10.2 CCL5 IL10
28 orofacial granulomatosis 10.2 CCL5 IL10
29 mycetoma 10.2 CCL5 IL10
30 spotted fever 10.2 CCL5 IL10
31 genital herpes 10.1 CCL5 IL10
32 fibrous dysplasia 10.1
33 viral encephalitis 10.1 CCL5 IL10
34 idiopathic neutropenia 10.1 CCL5 IL10
35 sarcoma 10.1
36 cholera 10.1
37 adenoma 10.1
38 myeloid sarcoma 10.1
39 pituitary tumors 10.1
40 pseudohypoparathyroidism, type ia 10.0
41 major affective disorder 4 10.0
42 major affective disorder 8 10.0
43 major affective disorder 7 10.0
44 major affective disorder 9 10.0
45 leukemia 10.0
46 adenocarcinoma 10.0
47 pituitary adenoma 10.0
48 multiple endocrine neoplasia 10.0
49 lymphatic system disease 10.0 RAB27A UNC13D
50 pancytopenia 9.9

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
2 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
3 white hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0011364
4 silver-gray hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002218
5 immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002721
6 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
7 decreased antibody level in blood 60 33 frequent (33%) Frequent (79-30%) HP:0004313
8 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
9 abnormality of neutrophils 60 33 frequent (33%) Frequent (79-30%) HP:0001874
10 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
11 leukopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001882
12 abnormal circulating lipid concentration 33 frequent (33%) HP:0003119
13 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
14 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
17 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
18 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
19 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
20 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
21 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
22 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
23 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
24 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
25 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
26 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
27 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
28 bone marrow hypocellularity 60 33 occasional (7.5%) Occasional (29-5%) HP:0005528
29 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
30 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
31 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
32 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
33 pedal edema 33 occasional (7.5%) HP:0010741
34 abnormal eyelash morphology 33 occasional (7.5%) HP:0000499
35 abnormal eyebrow morphology 33 occasional (7.5%) HP:0000534
36 abnormality of movement 60 Occasional (29-5%)
37 abnormality of the eyelashes 60 Occasional (29-5%)
38 abnormality of the eyebrow 60 Occasional (29-5%)
39 abnormality of lipid metabolism 60 Frequent (79-30%)
40 edema of the lower limbs 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Griscelli Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 LYST MLPH MYO5A RAB27A
2 vision/eye MP:0005391 9.1 IL10 LYST MLPH MYO5A RAB27A UNC13B

Drugs & Therapeutics for Griscelli Syndrome

Drugs for Griscelli Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Not Applicable 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
3 Immunologic Factors Phase 2, Phase 3,Not Applicable
4 Alkylating Agents Phase 2, Phase 3,Not Applicable
5 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
6 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
7 Thymoglobulin Phase 2, Phase 3
8
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
13 Antirheumatic Agents Phase 2,Not Applicable
14 Antitubercular Agents Phase 2
15 Antifungal Agents Phase 2
16 Rho(D) Immune Globulin Phase 2
17 Immunoglobulins Phase 2
18 Calcineurin Inhibitors Phase 2
19 Anti-Infective Agents Phase 2,Not Applicable
20 Immunoglobulins, Intravenous Phase 2
21 Antimetabolites Phase 2,Not Applicable
22 Anti-Bacterial Agents Phase 2
23 Antibodies Phase 2
24 Antineoplastic Agents, Immunological Phase 2,Not Applicable
25 Antibiotics, Antitubercular Phase 2
26 gamma-Globulins Phase 2
27 Cyclosporins Phase 2
28 Dermatologic Agents Phase 2
29 Antimetabolites, Antineoplastic Phase 2,Not Applicable
30 Antilymphocyte Serum Phase 2
31
Mesna Approved, Investigational Not Applicable 3375-50-6 598
32
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
33 Protective Agents Not Applicable
34 Antiviral Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
2 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
3 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
4 Study 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 30

Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

42
Skin, Brain, T Cells, Lymph Node, Bone, Bone Marrow, Eye

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 104)
# Title Authors Year
1
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. ( 29875956 )
2018
2
Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. ( 29398817 )
2018
3
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. ( 30129079 )
2018
4
Oral features of Griscelli syndrome type II: A rare case report. ( 30207398 )
2018
5
&amp;quot;Road-Dividing Line&amp;quot;-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. ( 28232922 )
2017
6
Griscelli syndrome: A rare disorder. ( 28681765 )
2017
7
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )
2017
8
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. ( 28836324 )
2017
9
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )
2017
10
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. ( 28357189 )
2017
11
Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )
2016
12
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
13
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. ( 27434021 )
2016
14
Further evidence for genotype-phenotype disparity in Griscelli syndrome. ( 27416802 )
2016
15
Griscelli syndrome type-3. ( 27990386 )
2016
16
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
17
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )
2015
18
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
19
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. ( 25312756 )
2014
20
A case of Griscelli syndrome. ( 25419745 )
2014
21
Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome. ( 27366412 )
2014
22
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )
2014
23
Griscelli syndrome. ( 25500851 )
2014
24
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. ( 25283056 )
2014
25
Griscelli syndrome: a case report. ( 25657774 )
2014
26
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
27
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. ( 24711539 )
2014
28
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
29
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
30
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
31
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )
2012
32
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. ( 23135662 )
2012
33
Cellular and clinical report of new Griscelli syndrome type III cases. ( 21883982 )
2012
34
Molecular analysis and clinical findings of Griscelli syndrome patients. ( 22983416 )
2012
35
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. ( 23436972 )
2012
36
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
37
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
38
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. ( 20661159 )
2010
39
Hematopoietic SCT in children with Griscelli syndrome: a single-center experience. ( 20062095 )
2010
40
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
41
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
42
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
43
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
44
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
45
Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )
2009
46
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
47
Griscelli syndrome: a model system to study vesicular trafficking. ( 19243575 )
2009
48
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
49
A further Turkish case of Griscelli syndrome with new RAB27A mutation. ( 18489042 )
2008
50
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. ( 18397837 )
2008

Variations for Griscelli Syndrome

ClinVar genetic disease variations for Griscelli Syndrome:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB27A NM_004580.4(RAB27A): c.*14C> T single nucleotide variant Benign rs1050931 GRCh37 Chromosome 15, 55497691: 55497691
2 RAB27A NM_004580.4(RAB27A): c.*14C> T single nucleotide variant Benign rs1050931 GRCh38 Chromosome 15, 55205493: 55205493
3 RAB27A NM_004580.4(RAB27A): c.*2349A> G single nucleotide variant Likely benign rs76970799 GRCh38 Chromosome 15, 55203158: 55203158
4 RAB27A NM_004580.4(RAB27A): c.*2349A> G single nucleotide variant Likely benign rs76970799 GRCh37 Chromosome 15, 55495356: 55495356
5 RAB27A NM_004580.4(RAB27A): c.*2334C> A single nucleotide variant Uncertain significance rs886051304 GRCh38 Chromosome 15, 55203173: 55203173
6 RAB27A NM_004580.4(RAB27A): c.*2334C> A single nucleotide variant Uncertain significance rs886051304 GRCh37 Chromosome 15, 55495371: 55495371
7 RAB27A NM_004580.4(RAB27A): c.*2241_*2247delAAAATAA deletion Uncertain significance rs565165091 GRCh38 Chromosome 15, 55203260: 55203266
8 RAB27A NM_004580.4(RAB27A): c.*2241_*2247delAAAATAA deletion Uncertain significance rs565165091 GRCh37 Chromosome 15, 55495458: 55495464
9 RAB27A NM_004580.4(RAB27A): c.*1915_*1920delAAAAAAinsTAAATAAAT indel Uncertain significance rs886051305 GRCh38 Chromosome 15, 55203587: 55203592
10 RAB27A NM_004580.4(RAB27A): c.*1915_*1920delAAAAAAinsTAAATAAAT indel Uncertain significance rs886051305 GRCh37 Chromosome 15, 55495785: 55495790
11 RAB27A NM_004580.4(RAB27A): c.*1742A> G single nucleotide variant Benign rs1061824 GRCh38 Chromosome 15, 55203765: 55203765
12 RAB27A NM_004580.4(RAB27A): c.*1742A> G single nucleotide variant Benign rs1061824 GRCh37 Chromosome 15, 55495963: 55495963
13 RAB27A NM_004580.4(RAB27A): c.*852C> T single nucleotide variant Benign rs3179664 GRCh38 Chromosome 15, 55204655: 55204655
14 RAB27A NM_004580.4(RAB27A): c.*852C> T single nucleotide variant Benign rs3179664 GRCh37 Chromosome 15, 55496853: 55496853
15 RAB27A NM_004580.4(RAB27A): c.*842G> A single nucleotide variant Likely benign rs59982153 GRCh38 Chromosome 15, 55204665: 55204665
16 RAB27A NM_004580.4(RAB27A): c.*842G> A single nucleotide variant Likely benign rs59982153 GRCh37 Chromosome 15, 55496863: 55496863
17 RAB27A NM_004580.4(RAB27A): c.*723C> T single nucleotide variant Uncertain significance rs886051311 GRCh38 Chromosome 15, 55204784: 55204784
18 RAB27A NM_004580.4(RAB27A): c.*723C> T single nucleotide variant Uncertain significance rs886051311 GRCh37 Chromosome 15, 55496982: 55496982
19 RAB27A NM_004580.4(RAB27A): c.*162G> C single nucleotide variant Uncertain significance rs886051315 GRCh38 Chromosome 15, 55205345: 55205345
20 RAB27A NM_004580.4(RAB27A): c.*162G> C single nucleotide variant Uncertain significance rs886051315 GRCh37 Chromosome 15, 55497543: 55497543
21 RAB27A NM_004580.4(RAB27A): c.343+3_343+6delAAGT deletion Uncertain significance rs886051317 GRCh38 Chromosome 15, 55228603: 55228606
22 RAB27A NM_004580.4(RAB27A): c.343+3_343+6delAAGT deletion Uncertain significance rs886051317 GRCh37 Chromosome 15, 55520801: 55520804
23 RAB27A NM_004580.4(RAB27A): c.*1922_*1923insTAA insertion Uncertain significance rs555244731 GRCh38 Chromosome 15, 55203584: 55203585
24 RAB27A NM_004580.4(RAB27A): c.*1922_*1923insTAA insertion Uncertain significance rs555244731 GRCh37 Chromosome 15, 55495782: 55495783
25 RAB27A NM_004580.4(RAB27A): c.*1878T> C single nucleotide variant Uncertain significance rs552625680 GRCh38 Chromosome 15, 55203629: 55203629
26 RAB27A NM_004580.4(RAB27A): c.*1878T> C single nucleotide variant Uncertain significance rs552625680 GRCh37 Chromosome 15, 55495827: 55495827
27 RAB27A NM_004580.4(RAB27A): c.*1863C> T single nucleotide variant Uncertain significance rs566144766 GRCh38 Chromosome 15, 55203644: 55203644
28 RAB27A NM_004580.4(RAB27A): c.*1863C> T single nucleotide variant Uncertain significance rs566144766 GRCh37 Chromosome 15, 55495842: 55495842
29 RAB27A NM_004580.4(RAB27A): c.*1672T> C single nucleotide variant Uncertain significance rs886051306 GRCh37 Chromosome 15, 55496033: 55496033
30 RAB27A NM_004580.4(RAB27A): c.*1672T> C single nucleotide variant Uncertain significance rs886051306 GRCh38 Chromosome 15, 55203835: 55203835
31 RAB27A NM_004580.4(RAB27A): c.*1662A> T single nucleotide variant Benign rs1061823 GRCh37 Chromosome 15, 55496043: 55496043
32 RAB27A NM_004580.4(RAB27A): c.*1662A> T single nucleotide variant Benign rs1061823 GRCh38 Chromosome 15, 55203845: 55203845
33 RAB27A NM_004580.4(RAB27A): c.*1612dupT duplication Uncertain significance rs886051307 GRCh37 Chromosome 15, 55496093: 55496093
34 RAB27A NM_004580.4(RAB27A): c.*1612dupT duplication Uncertain significance rs886051307 GRCh38 Chromosome 15, 55203895: 55203895
35 RAB27A NM_004580.4(RAB27A): c.*1485G> A single nucleotide variant Uncertain significance rs886051308 GRCh38 Chromosome 15, 55204022: 55204022
36 RAB27A NM_004580.4(RAB27A): c.*1485G> A single nucleotide variant Uncertain significance rs886051308 GRCh37 Chromosome 15, 55496220: 55496220
37 RAB27A NM_004580.4(RAB27A): c.*1473T> C single nucleotide variant Uncertain significance rs568895039 GRCh38 Chromosome 15, 55204034: 55204034
38 RAB27A NM_004580.4(RAB27A): c.*1473T> C single nucleotide variant Uncertain significance rs568895039 GRCh37 Chromosome 15, 55496232: 55496232
39 RAB27A NM_004580.4(RAB27A): c.*1418T> A single nucleotide variant Benign rs1061874 GRCh38 Chromosome 15, 55204089: 55204089
40 RAB27A NM_004580.4(RAB27A): c.*1418T> A single nucleotide variant Benign rs1061874 GRCh37 Chromosome 15, 55496287: 55496287
41 RAB27A NM_004580.4(RAB27A): c.*1392A> C single nucleotide variant Likely benign rs12907749 GRCh38 Chromosome 15, 55204115: 55204115
42 RAB27A NM_004580.4(RAB27A): c.*1392A> C single nucleotide variant Likely benign rs12907749 GRCh37 Chromosome 15, 55496313: 55496313
43 RAB27A NM_004580.4(RAB27A): c.*730T> C single nucleotide variant Uncertain significance rs886051310 GRCh38 Chromosome 15, 55204777: 55204777
44 RAB27A NM_004580.4(RAB27A): c.*731G> T single nucleotide variant Likely benign rs76097718 GRCh38 Chromosome 15, 55204776: 55204776
45 RAB27A NM_004580.4(RAB27A): c.*731G> T single nucleotide variant Likely benign rs76097718 GRCh37 Chromosome 15, 55496974: 55496974
46 RAB27A NM_004580.4(RAB27A): c.*730T> C single nucleotide variant Uncertain significance rs886051310 GRCh37 Chromosome 15, 55496975: 55496975
47 RAB27A NM_004580.4(RAB27A): c.*561A> T single nucleotide variant Uncertain significance rs886051312 GRCh38 Chromosome 15, 55204946: 55204946
48 RAB27A NM_004580.4(RAB27A): c.*561A> T single nucleotide variant Uncertain significance rs886051312 GRCh37 Chromosome 15, 55497144: 55497144
49 RAB27A NM_004580.4(RAB27A): c.*388G> C single nucleotide variant Uncertain significance rs886051314 GRCh38 Chromosome 15, 55205119: 55205119
50 RAB27A NM_004580.4(RAB27A): c.*388G> C single nucleotide variant Uncertain significance rs886051314 GRCh37 Chromosome 15, 55497317: 55497317

Expression for Griscelli Syndrome

Search GEO for disease gene expression data for Griscelli Syndrome.

Pathways for Griscelli Syndrome

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 MYO5A RAB27A UNC13D
2 photoreceptor outer segment GO:0001750 9.5 MYO5A MYRIP RAB27A
3 secretory granule GO:0030141 9.46 KLK3 MYO5A RAB27A SYTL4
4 cortical actin cytoskeleton GO:0030864 9.4 MLPH MYRIP
5 Weibel-Palade body GO:0033093 9.26 RAB27A UNC13D
6 melanosome GO:0042470 9.26 MYO5A MYRIP RAB27A SYTL2
7 exocytic vesicle GO:0070382 8.92 RAB27A SYTL2 SYTL4 UNC13D

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein secretion GO:0050714 9.52 SYTL4 UNC13B
2 leukocyte chemotaxis GO:0030595 9.51 IL10 LYST
3 pigmentation GO:0043473 9.5 LYST MYO5A RAB27A
4 defense response to protozoan GO:0042832 9.49 IL10 LYST
5 melanocyte differentiation GO:0030318 9.48 MYO5A RAB27A
6 multivesicular body sorting pathway GO:0071985 9.46 RAB27A SYTL4
7 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
8 positive regulation of exocytosis GO:0045921 9.43 RAB27A SYTL4 UNC13D
9 intracellular protein transport GO:0006886 9.43 MLPH MYRIP RAB27A RAB28 SYTL2 SYTL4
10 melanosome localization GO:0032400 9.4 MYO5A RAB27A
11 positive regulation of regulated secretory pathway GO:1903307 9.37 RAB27A UNC13D
12 melanosome transport GO:0032402 9.33 MLPH MYO5A RAB27A
13 exocytosis GO:0006887 9.17 CCL5 MYO5A RAB27A SYTL2 SYTL4 UNC13B

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 CCL5 IL10 KLK3 LYST MLPH MYO5A
2 myosin binding GO:0017022 9.26 MLPH MYRIP
3 Rab GTPase binding GO:0017137 9.17 MLPH MYO5A MYRIP SYTL2 SYTL4 UNC13B
4 neurexin family protein binding GO:0042043 8.96 SYTL2 SYTL4

Sources for Griscelli Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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