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 20 43 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 20
Immunodeficiency Syndrome with Hypopigmentation 58
Hypopigmentation Immunodeficiency Disease 43
Hypopigmentation-Immunodeficiency Disease 71
Partial Albinism with Immunodeficiency 43
Gs 43

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

GARD : 20 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 partial albinism-immunodeficiency syndrome, 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, eye and t cells, and related phenotypes are premature graying of hair and hypopigmented skin patches

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

MedlinePlus Genetics : 43 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 87)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 33.5 SYTL2 RAB27A MYO5A MLPH GLUL
2 griscelli syndrome, type 3 33.3 SYTL2 RAB27A MYO5A MLPH
3 griscelli syndrome, type 2 32.7 UNC13D SYTL2 STXBP2 STX11 RAB27B RAB27A
4 pancytopenia 31.3 UNC13D STXBP2 STX11 RAB27A
5 hemophagocytic lymphohistiocytosis 31.2 UNC13D STXBP2 STX11 RAB27A LYST IL10
6 chediak-higashi syndrome 31.1 UNC13D STXBP2 STX11 RAB27A PRODH MYO5A
7 lymphoproliferative syndrome 30.8 UNC13D SLAMF6 IL10
8 piebald trait 30.8 UNC13D SYTL2 STXBP2 STX11 RAB27B RAB27A
9 macrophage activation syndrome 30.8 UNC13D RAB27A
10 chronic graft versus host disease 30.5 IL10 CCL5
11 hemophagocytic lymphohistiocytosis, familial, 1 30.4 UNC13D STXBP2 STX11 RAB27A FHL2
12 lymphoproliferative syndrome, x-linked, 1 30.3 UNC13D STXBP2 STX11 SLAMF6 RAB27A LYST
13 cinca syndrome 11.3
14 acrocephalopolydactylous dysplasia 11.1
15 albinism 10.7
16 autosomal recessive disease 10.7
17 primary hemophagocytic lymphohistiocytosis 10.5 UNC13D STX11 RAB27A
18 spotted fever rickettsiosis 10.5 IL10 CCL5
19 chromium allergic contact dermatitis 10.5 IL10 CCL5
20 hemophagocytic lymphohistiocytosis, familial, 3 10.5 UNC13D STX11 RAB27A
21 hemophagocytic lymphohistiocytosis, familial, 5 10.5 UNC13D STXBP2 STX11
22 selective immunoglobulin deficiency disease 10.5 UNC13D STXBP2 SLAMF6
23 acute hemorrhagic encephalitis 10.5 UNC13D STXBP2 STX11
24 diarrhea 2, with microvillus atrophy 10.4 STXBP2 MYO5A MLPH
25 lymphoproliferative syndrome 1 10.4 UNC13D STXBP2 STX11
26 albinism, oculocutaneous, type v 10.4 MYO5A LYST
27 hemophagocytic lymphohistiocytosis, familial, 2 10.4 STXBP2 STX11 FHL2
28 parasitic protozoa infectious disease 10.4 PRODH IL10 CCL5
29 orofacial granulomatosis 10.4 IL10 CCL5
30 primary bacterial infectious disease 10.4 PRODH IL10 CCL5
31 mycetoma 10.4 IL10 CCL5
32 autoimmune disease of central nervous system 10.4 PRODH IL10 CCL5
33 lymphoproliferative syndrome 2 10.4 STXBP2 STX11 SLAMF6 LYST AP3B1
34 autoimmune disease of the nervous system 10.4 PRODH IL10 CCL5
35 hemophagocytic lymphohistiocytosis, familial, 4 10.4 UNC13D STXBP2 STX11 RAB27A LYST FHL2
36 hermansky-pudlak syndrome 2 10.3 LYST AP3B1
37 lymphoproliferative syndrome, x-linked, 2 10.3 UNC13D STXBP2 STX11 RAB27A LYST FHL2
38 vulvovaginitis 10.3 IL10 CCL5
39 african tick-bite fever 10.3 IL10 CCL5
40 immune deficiency disease 10.3
41 agammaglobulinemia 10.3
42 hermansky-pudlak syndrome 10.3 UNC13D STXBP2 STX11 RAB27B RAB27A MYO5A
43 idiopathic neutropenia 10.2 IL10 CCL5
44 hepatic veno-occlusive disease 10.2
45 dysgammaglobulinemia 10.1 STXBP2 SLAMF6
46 graft-versus-host disease 10.1
47 oculocutaneous albinism 10.1
48 acute graft versus host disease 10.1
49 demyelinating disease 10.0
50 hypertriglyceridemia, familial 10.0

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 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
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 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
20 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
21 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
22 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
23 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
24 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
25 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
26 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
27 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
28 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
29 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
30 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
31 pedal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010741
32 seizure 31 occasional (7.5%) HP:0001250
33 hypotonia 31 occasional (7.5%) HP:0001252
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 muscular hypotonia 58 Occasional (29-5%)
38 abnormality of movement 58 Occasional (29-5%)
39 decreased antibody level in blood 58 Frequent (79-30%)
40 abnormality of the eyelashes 58 Occasional (29-5%)
41 abnormality of lipid metabolism 58 Frequent (79-30%)
42 abnormality of the eyebrow 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Griscelli Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 AP3B1 CCL5 IL10 LYST MYO5A RAB27A
2 immune system MP:0005387 9.9 AP3B1 CCL5 IL10 LYST MLPH MYO5A
3 pigmentation MP:0001186 9.5 AP3B1 LYST MLPH MYO5A PRODH RAB27A
4 respiratory system MP:0005388 9.17 AP3B1 IL10 LYST PRODH RAB27A RAB27B

Drugs & Therapeutics for Griscelli Syndrome

Search Clinical Trials , 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, Eye, T Cells, Bone, Bone Marrow

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 225)
# 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. 6 61
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
Melanosome transport and regulation in development and disease. 61
33075361 2021
13
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 61
33563058 2021
14
Melanogenesis Connection with Innate Immunity and Toll-Like Receptors. 61
33371432 2020
15
Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature. 61
32994837 2020
16
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families. 61
32856792 2020
17
Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family. 61
32864751 2020
18
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients. 61
32286505 2020
19
Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2. 61
32965739 2020
20
Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity. 61
33235850 2020
21
Rab GTPases: Key players in melanosome biogenesis, transport, and transfer. 61
32997883 2020
22
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
23
Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency. 61
32324696 2020
24
Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A. 61
32275080 2020
25
Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2. 61
32594618 2020
26
[Clinical study of haploidentical hematopoietic stem cell transplantation on 15 cases of adult-onset primary hemophagocytic lymphohistiocytosis]. 61
32654467 2020
27
Case series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis. 61
32332189 2020
28
Transfer of extracellular vesicle-microRNA controls germinal center reaction and antibody production. 61
32073750 2020
29
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. 61
31721180 2020
30
Griscelli syndrome type 2. 61
31199490 2020
31
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement. 61
33362801 2020
32
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 61
31233462 2019
33
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 61
30971555 2019
34
Myosin Va and spermine synthase: partners in exosome transport. 61
30967493 2019
35
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. 61
30934652 2019
36
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
37
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. 61
30129079 2018
38
[Griscelli syndrome type 3: A new case]. 61
30389201 2018
39
Oral features of Griscelli syndrome type II: A rare case report. 61
30207398 2018
40
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome. 61
30338556 2018
41
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 61
29875956 2018
42
Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. 61
29398817 2018
43
A lysosome targetable versatile fluorescent probe for imaging viscosity and peroxynitrite with different fluorescence signals in living cells. 61
32254486 2018
44
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. 61
28836324 2017
45
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 61
28585352 2017
46
Analogs of human genetic skin disease in domesticated animals. 61
28831430 2017
47
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 61
28484936 2017
48
Griscelli syndrome: A rare disorder. 61
28681765 2017
49
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
50
Further evidence for genotype-phenotype disparity in Griscelli syndrome. 61
27416802 2017

Variations for Griscelli Syndrome

ClinVar genetic disease variations for Griscelli Syndrome:

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MLPH NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) SNV Pathogenic 4268 rs119473031 2:238402172-238402172 2:237493529-237493529
2 RAB27A NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) SNV Pathogenic 5982 rs28938176 15:55522621-55522621 15:55230423-55230423
3 RAB27A NM_183235.3(RAB27A):c.239+3A>G SNV Pathogenic 5983 rs1595695268 15:55522596-55522596 15:55230398-55230398
4 RAB27A RAB27A, 550C-T SNV Pathogenic 5984
5 RAB27A RAB27A, 67.5-KB DEL Deletion Pathogenic 5985
6 RAB27A NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) SNV Pathogenic 5986 rs104894498 15:55516165-55516165 15:55223967-55223967
7 RAB27A NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) SNV Pathogenic 5987 rs104894499 15:55516100-55516100 15:55223902-55223902
8 RAB27A NM_183235.3(RAB27A):c.51_52CT[1] (p.Ser18fs) Microsatellite Pathogenic 5988 rs1595700039 15:55527079-55527080 15:55234881-55234882
9 RAB27A RAB27A, IVS5, G-C, +1 SNV Pathogenic 5989
10 RAB27A NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) SNV Pathogenic 5990 rs104894500 15:55516202-55516202 15:55224004-55224004
11 MYO5A NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter) SNV Pathogenic 14069 rs764371254 15:52668632-52668632 15:52376435-52376435
12 MYO5A MYO5A, 47-BP INS, NT4634 Insertion Pathogenic 14070
13 MYO5A MYO5A, F-EXON DEL Deletion Pathogenic 14071
14 RAB27A NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) Deletion Pathogenic 417958 rs767481076 15:55497853-55497857 15:55205655-55205659
15 RAB27A NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) SNV Pathogenic 436458 rs200956636 15:55497821-55497821 15:55205623-55205623
16 RAB27A NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) SNV Pathogenic 436459 rs141281020 15:55527131-55527131 15:55234933-55234933
17 RAB27A NC_000015.10:g.(?_55228589)_(55234954_?)del Deletion Pathogenic 468590 15:55228589-55234954
18 RAB27A NM_183235.3(RAB27A):c.149del (p.Arg50fs) Deletion Pathogenic 504894 rs770601673 15:55526984-55526984 15:55234786-55234786
19 RAB27A NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) Deletion Pathogenic 451279 rs1555394745 15:55527114-55527115 15:55234916-55234917
20 MYO5A NM_000259.3(MYO5A):c.2012+1G>T SNV Pathogenic 561060 rs769021352 15:52675287-52675287 15:52383090-52383090
21 MLPH NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) SNV Pathogenic 636328 rs140470472 2:238402139-238402139 2:237493496-237493496
22 RAB27A NC_000015.10:g.(?_55223869)_(55224032_?)del Deletion Pathogenic 639378 15:55516067-55516230 15:55223869-55224032
23 RAB27A NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs) Microsatellite Pathogenic 640583 rs766575263 15:55516130-55516131 15:55223932-55223933
24 RAB27A NC_000015.10:g.(?_55223869)_(55234954_?)del Deletion Pathogenic 641551 15:55516067-55527152 15:55223869-55234954
25 RAB27A NC_000015.10:g.(?_55234762)_(55234954_?)del Deletion Pathogenic 650701 15:55526960-55527152 15:55234762-55234954
26 RAB27A NM_183235.3(RAB27A):c.251dup (p.Leu84fs) Duplication Pathogenic 944622 15:55520898-55520899 15:55228700-55228701
27 RAB27A NM_183235.3(RAB27A):c.377del (p.Pro126fs) Deletion Pathogenic 950420 15:55516177-55516177 15:55223979-55223979
28 MLPH NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) SNV Pathogenic 191157 rs786205551 2:238402173-238402173 2:237493530-237493530
29 RAB27A NM_183235.3(RAB27A):c.240-5_242del Deletion Likely pathogenic 943988 15:55520908-55520915 15:55228710-55228717
30 RAB27A NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) SNV Likely pathogenic 974863 15:55497896-55497896 15:55205698-55205698
31 RAB27A NM_183235.3(RAB27A):c.467+1G>C SNV Likely pathogenic 582014 rs756071120 15:55516086-55516086 15:55223888-55223888
32 RAB27A NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) SNV Likely pathogenic 5991 rs104894497 15:55520891-55520891 15:55228693-55228693
33 RAB27A NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) SNV Conflicting interpretations of pathogenicity 235346 rs182849552 15:55497811-55497811 15:55205613-55205613
34 RAB27A NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) SNV Conflicting interpretations of pathogenicity 536462 rs150463407 15:55516136-55516136 15:55223938-55223938
35 RAB27A NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) SNV Conflicting interpretations of pathogenicity 419794 rs753966933 15:55520906-55520906 15:55228708-55228708
36 RAB27A NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) SNV Uncertain significance 959518 15:55497873-55497873 15:55205675-55205675
37 RAB27A NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala) SNV Uncertain significance 967802 15:55516087-55516087 15:55223889-55223889
38 RAB27A NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) SNV Uncertain significance 970666 15:55522666-55522666 15:55230468-55230468
39 RAB27A NM_183235.3(RAB27A):c.175G>C (p.Asp59His) SNV Uncertain significance 946355 15:55522663-55522663 15:55230465-55230465
40 RAB27A NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) SNV Uncertain significance 946933 15:55522651-55522651 15:55230453-55230453
41 RAB27A NM_183235.3(RAB27A):c.*415C>T SNV Uncertain significance 886874 15:55497290-55497290 15:55205092-55205092
42 RAB27A NM_183235.3(RAB27A):c.*370T>C SNV Uncertain significance 886875 15:55497335-55497335 15:55205137-55205137
43 RAB27A NM_183235.3(RAB27A):c.*28A>G SNV Uncertain significance 888154 15:55497677-55497677 15:55205479-55205479
44 RAB27A NM_183235.3(RAB27A):c.*9G>A SNV Uncertain significance 888155 15:55497696-55497696 15:55205498-55205498
45 RAB27A NM_183235.3(RAB27A):c.520A>G (p.Ile174Val) SNV Uncertain significance 936856 15:55497851-55497851 15:55205653-55205653
46 RAB27A NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr) SNV Uncertain significance 941674 15:55516171-55516171 15:55223973-55223973
47 RAB27A NM_183235.3(RAB27A):c.*595G>T SNV Uncertain significance 885882 15:55497110-55497110 15:55204912-55204912
48 RAB27A NM_183235.3(RAB27A):c.-142-84C>T SNV Uncertain significance 885949 15:55562566-55562566 15:55270368-55270368
49 RAB27A NM_183235.3(RAB27A):c.*2415T>C SNV Uncertain significance 886753 15:55495290-55495290 15:55203092-55203092
50 RAB27A NM_183235.3(RAB27A):c.*1598A>G SNV Uncertain significance 886823 15:55496107-55496107 15:55203909-55203909

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 secretory granule GO:0030141 9.54 STXBP2 RAB27B RAB27A
2 late endosome GO:0005770 9.46 UNC13D RAB27B RAB27A MYO5A
3 multivesicular body membrane GO:0032585 9.32 RAB27B RAB27A
4 Weibel-Palade body GO:0033093 9.26 UNC13D RAB27A
5 exocytic vesicle GO:0070382 9.13 UNC13D SYTL2 RAB27A
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 protein transport GO:0015031 9.91 STXBP2 STX11 RAB11FIP1 MYO5A LYST AP3B1
2 intracellular protein transport GO:0006886 9.77 SYTL2 STXBP2 STX11 MLPH AP3B1
3 vesicle-mediated transport GO:0016192 9.63 SYTL2 STXBP2 STX11 RAB27A MYO5A AP3B1
4 melanosome organization GO:0032438 9.52 LYST AP3B1
5 leukocyte chemotaxis GO:0030595 9.51 LYST IL10
6 pigmentation GO:0043473 9.5 RAB27A LYST AP3B1
7 multivesicular body sorting pathway GO:0071985 9.49 RAB27B RAB27A
8 regulation of mast cell degranulation GO:0043304 9.48 UNC13D STXBP2
9 natural killer cell degranulation GO:0043320 9.46 UNC13D RAB27A
10 positive regulation of exocytosis GO:0045921 9.43 UNC13D RAB27B RAB27A
11 positive regulation of regulated secretory pathway GO:1903307 9.4 UNC13D RAB27A
12 melanosome transport GO:0032402 9.26 RAB27B RAB27A MYO5A MLPH
13 exocytosis GO:0006887 9.1 UNC13D SYTL2 STXBP2 STX11 RAB27A CCL5

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

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.26 UNC13D RAB11FIP1 MYO5A MLPH
2 myosin V binding GO:0031489 9.16 RAB27B RAB27A
3 Rab GTPase binding GO:0017137 8.8 SYTL2 RAB11FIP1 MLPH

Sources for Griscelli Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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