MCID: GRS003
MIFTS: 56

Griscelli Syndrome

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

Aliases & Classifications for Griscelli Syndrome

MalaCards integrated aliases for Griscelli Syndrome:

Name: Griscelli Syndrome 12 76 53 25 37 15
Griscelli Disease 76 53 59 29 6
Partial Albinism-Immunodeficiency Syndrome 12 59
Chédiak-Higashi-Like Syndrome 12 59
Griscelli-Pruniéras Syndrome 12 59
Hypopigmentation Immunodeficiency Disease 25
Hypopigmentation-Immunodeficiency Disease 73
Partial Albinism with Immunodeficiency 25
Gs 25

Characteristics:

Orphanet epidemiological data:

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

Classifications:



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: 381Disease definitionGriscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).EpidemiologyMore than 60 cases have been reported so far.Clinical descriptionIn addition to silvery gray sheen of the hair and light-coloured skin, GS type 1 patients present with early and severe psychomotor retardation. Patients with GS type 2 exhibit a cytotoxic defect and the appearance of an uncontrolled T-lymphocyte and macrophage-activation syndrome also known as haemophagocytic syndrome : lymph nodes and other organs (including the brain) become infiltrated by activated T cells and macrophages which phagocytize blood cells (known as hemophagocytose). Patients with Griscelli syndrome type 2 can present with neurological symptoms due to brain infiltation by the activated hematopoietic cells (hemophagocytic syndrome).EtiologyGS type 1 is caused by a mutation in the myosin Va (MYO5A) gene located on chromosome 15q21. Griscelli syndrome type 1 likely corresponds to Elejalde syndrome (see this term). 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 triggering the hemophagocytic syndrome. GS type 3 is due to mutations in MLPH, a gene encoding melanophilin, which forms a protein complex with Rab 27a and myosin Va and participate to melanosome transport in melanocytes. Hypopigmentation of the skin and the hair is accompanied by the presence of large aggregates of pigment in hair shafts and the accumulation of mature melanosomes in melanocytes.Differential diagnosisGS can be distinguished from Chediak-Higashi syndrome (see this term) by the lack of giant granules in GS granulocytes.Antenatal diagnosisAntenatal diagnosis of GS1 and 2 can be performed through chorionic villus sampling by the sequencing of the MYO5A or RAB27A gene, respectively.Genetic counselingGriscelli syndrome is an autosomal recessive disorder. Genetic counselling can be performed.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 bone-marrow transplantation.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 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, bone and bone marrow, and related phenotypes are hydrocephalus and abnormality of the eyelashes

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.

Wikipedia : 76 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 122)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 34.3 COX5A MYO5A RAB27A
2 griscelli syndrome, type 3 31.5 KLK3 MLPH MYO5A MYRIP RAB27A SYTL2
3 griscelli syndrome, type 2 31.1 CCL5 IL10 LYST MLPH MYO5A RAB27A
4 macrophage activation syndrome 30.5 RAB27A UNC13D
5 chediak-higashi syndrome 29.8 LYST RAB27A UNC13D
6 hemophagocytic lymphohistiocytosis 29.8 IL10 LYST RAB27A UNC13D
7 prostatitis 29.2 IL10 KLK3
8 acrocephalopolydactylous dysplasia 11.4
9 mccune-albright syndrome 11.4
10 pseudohypoparathyroidism 11.2
11 cinca syndrome 11.2
12 pseudohypoparathyroidism, type ic 11.0
13 albinism, oculocutaneous, type ib 10.9
14 megaloblastic anemia 1 10.9
15 gitelman syndrome 10.9
16 glutamine deficiency, congenital 10.9
17 gerstmann syndrome 10.9
18 gilbert syndrome 10.9
19 pseudohypoparathyroidism, type ii 10.9
20 pseudohypoparathyroidism, type ib 10.9
21 hemophagocytic lymphohistiocytosis, familial, 4 10.6 RAB27A UNC13D
22 vulvovaginitis 10.5 CCL5 IL10
23 orofacial granulomatosis 10.5 CCL5 IL10
24 radiculopathy 10.4 CCL5 IL10
25 mycetoma 10.4 CCL5 IL10
26 genital herpes 10.4 CCL5 IL10
27 spotted fever 10.4 CCL5 IL10
28 piebald trait 10.4 MLPH MYO5A RAB27A
29 cytomegalovirus infection 10.3 CCL5 IL10
30 polyradiculoneuropathy 10.3 CCL5 IL10
31 adenoma 10.2
32 viral encephalitis 10.2 CCL5 IL10
33 thyroiditis 10.2
34 idiopathic neutropenia 10.1 CCL5 IL10
35 albinism 10.1
36 neuroblastoma 10.1
37 glioma 10.1
38 hematopoietic stem cell transplantation 10.1
39 albright's hereditary osteodystrophy 10.0
40 cholera 10.0
41 pituitary adenoma 10.0
42 pituitary tumors 10.0
43 lymphatic system disease 9.9 RAB27A UNC13D
44 pseudohypoparathyroidism, type ia 9.9
45 growth hormone secreting pituitary adenoma 9.9
46 neuronitis 9.9
47 fibrous dysplasia 9.8
48 hypothyroidism 9.8
49 type i 9.8
50 multiple endocrine neoplasia 9.8

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

MGI Mouse Phenotypes related to Griscelli Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 LYST MLPH MYO5A RAB27A

Drugs & Therapeutics for Griscelli Syndrome

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

(show all 32)
# 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 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 2, Phase 3,Not Applicable
4 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
5 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
6
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
7
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
8
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12 Anti-Bacterial Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Antibodies Phase 2
15 Antifungal Agents Phase 2
16 Anti-Infective Agents Phase 2,Not Applicable
17 Antilymphocyte Serum Phase 2
18 Antimetabolites Phase 2,Not Applicable
19 Antimetabolites, Antineoplastic Phase 2,Not Applicable
20 Antirheumatic Agents Phase 2,Not Applicable
21 Antitubercular Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23 Cyclosporins Phase 2
24 Dermatologic Agents Phase 2
25 gamma-Globulins Phase 2
26 Immunoglobulins Phase 2
27 Immunoglobulins, Intravenous Phase 2
28 Rho(D) Immune Globulin Phase 2
29
Mesna Approved, Investigational Not Applicable 3375-50-6 598
30
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
31 Antiviral Agents Not Applicable
32 Protective 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 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
4 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

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, Bone, Bone Marrow, T Cells, Lymph Node, Brain, Neutrophil

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 99)
# 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
&amp;quot;Road-Dividing Line&amp;quot;-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. ( 28232922 )
2017
4
Griscelli syndrome: A rare disorder. ( 28681765 )
2017
5
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )
2017
6
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. ( 28836324 )
2017
7
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )
2017
8
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. ( 28357189 )
2017
9
Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )
2016
10
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
11
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. ( 27434021 )
2016
12
Further evidence for genotype-phenotype disparity in Griscelli syndrome. ( 27416802 )
2016
13
Griscelli syndrome type-3. ( 27990386 )
2016
14
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
15
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )
2015
16
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
17
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. ( 25312756 )
2014
18
A case of Griscelli syndrome. ( 25419745 )
2014
19
Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome. ( 27366412 )
2014
20
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )
2014
21
Griscelli syndrome. ( 25500851 )
2014
22
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. ( 25283056 )
2014
23
Griscelli syndrome: a case report. ( 25657774 )
2014
24
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
25
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. ( 24711539 )
2014
26
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
27
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
28
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
29
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )
2012
30
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. ( 23135662 )
2012
31
Cellular and clinical report of new Griscelli syndrome type III cases. ( 21883982 )
2012
32
Molecular analysis and clinical findings of Griscelli syndrome patients. ( 22983416 )
2012
33
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. ( 23436972 )
2012
34
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
35
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
36
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. ( 20661159 )
2010
37
Hematopoietic SCT in children with Griscelli syndrome: a single-center experience. ( 20062095 )
2010
38
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
39
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
40
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
41
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
42
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
43
Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )
2009
44
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
45
Griscelli syndrome: a model system to study vesicular trafficking. ( 19243575 )
2009
46
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
47
A further Turkish case of Griscelli syndrome with new RAB27A mutation. ( 18489042 )
2008
48
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. ( 18397837 )
2008
49
Griscelli syndrome and electroencephalography pattern. ( 18641887 )
2008
50
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
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 GRCh37 Chromosome 15, 55496287: 55496287
40 RAB27A NM_004580.4(RAB27A): c.*1418T> A single nucleotide variant Benign rs1061874 GRCh38 Chromosome 15, 55204089: 55204089
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.*731G> T single nucleotide variant Likely benign rs76097718 GRCh38 Chromosome 15, 55204776: 55204776
44 RAB27A NM_004580.4(RAB27A): c.*731G> T single nucleotide variant Likely benign rs76097718 GRCh37 Chromosome 15, 55496974: 55496974
45 RAB27A NM_004580.4(RAB27A): c.*730T> C single nucleotide variant Uncertain significance rs886051310 GRCh38 Chromosome 15, 55204777: 55204777
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 Weibel-Palade body GO:0033093 9.26 RAB27A UNC13D
5 melanosome GO:0042470 9.26 MYO5A MYRIP RAB27A SYTL2
6 exocytic vesicle GO:0070382 8.92 RAB27A SYTL2 SYTL4 UNC13D

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.55 SYTL2 SYTL4
2 regulation of calcium ion-dependent exocytosis GO:0017158 9.54 SYTL2 SYTL4
3 pigmentation GO:0043473 9.54 LYST MYO5A RAB27A
4 defense response to protozoan GO:0042832 9.52 IL10 LYST
5 melanocyte differentiation GO:0030318 9.51 MYO5A RAB27A
6 positive regulation of exocytosis GO:0045921 9.5 RAB27A SYTL4 UNC13D
7 leukocyte chemotaxis GO:0030595 9.49 IL10 LYST
8 multivesicular body sorting pathway GO:0071985 9.48 RAB27A SYTL4
9 natural killer cell degranulation GO:0043320 9.46 RAB27A UNC13D
10 melanosome localization GO:0032400 9.43 MYO5A RAB27A
11 melanosome transport GO:0032402 9.43 MLPH MYO5A RAB27A
12 intracellular protein transport GO:0006886 9.43 MLPH MYRIP RAB27A RAB28 SYTL2 SYTL4
13 positive regulation of regulated secretory pathway GO:1903307 9.4 RAB27A UNC13D
14 vesicle transport along actin filament GO:0030050 9.33 MLPH MYO5A MYRIP
15 exocytosis GO:0006887 9.1 CCL5 MYO5A RAB27A SYTL2 SYTL4 UNC13D

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.16 MLPH MYRIP
2 Rab GTPase binding GO:0017137 9.1 MLPH MYO5A MYRIP SYTL2 SYTL4 UNC13D
3 neurexin family protein binding GO:0042043 8.96 SYTL2 SYTL4
4 protein binding GO:0005515 10.03 CCL5 COX5A IL10 KLK3 LYST MLPH

Sources for Griscelli Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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