GS
MCID: GRS003
MIFTS: 55

Griscelli Syndrome (GS)

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

Aliases & Classifications for Griscelli Syndrome

MalaCards integrated aliases for Griscelli Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


Summaries for Griscelli Syndrome

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

MalaCards based summary : Griscelli Syndrome, also known as griscelli disease, is related to griscelli syndrome, type 3 and griscelli syndrome, type 1. An important gene associated with Griscelli Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include skin, brain and 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 : 25 Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.

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

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

Related Diseases for Griscelli Syndrome

Diseases in the Griscelli Syndrome family:

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

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

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 3 34.7 SYTL2 RAB27A MYO5A MLPH
2 griscelli syndrome, type 1 34.2 SYTL2 RAB27A MYO5A MLPH LYST GLUL
3 griscelli syndrome, type 2 32.6 UNC13D SYTL2 STXBP2 STX11 RAB27A PRODH
4 pancytopenia 31.1 UNC13D STXBP2 STX11 RAB27A
5 macrophage activation syndrome 30.9 UNC13D RAB27A
6 lymphoproliferative syndrome 30.9 UNC13D SLAMF6 IL10
7 hemophagocytic lymphohistiocytosis 30.8 UNC13D STXBP2 STX11 RAB27A LYST IL10
8 chediak-higashi syndrome 30.5 UNC13D STXBP2 STX11 RAB27A PRODH LYST
9 piebald trait 30.4 UNC13D STXBP2 STX11 RAB27B RAB27A MYO5A
10 hemophagocytic lymphohistiocytosis, familial, 1 30.4 UNC13D STXBP2 STX11 RAB27A
11 hermansky-pudlak syndrome 30.1 STX11 RAB27A LYST AP3B1 AGFG1
12 lymphoproliferative syndrome, x-linked, 1 29.9 UNC13D STXBP2 STX11 SLAMF6 RAB27A LYST
13 mccune-albright syndrome 11.7
14 pseudohypoparathyroidism, type ic 11.6
15 acrocephalopolydactylous dysplasia 11.6
16 pseudohypoparathyroidism 11.5
17 glutamine deficiency, congenital 11.5
18 cinca syndrome 11.5
19 osseous heteroplasia, progressive 11.5
20 pseudohypoparathyroidism, type ib 11.5
21 acromegaly 11.5
22 pseudohypoparathyroidism, type ii 11.5
23 goodpasture syndrome 11.4
24 albinism, oculocutaneous, type ib 11.2
25 megaloblastic anemia 1 11.2
26 gitelman syndrome 11.2
27 gerstmann syndrome 11.2
28 gilbert syndrome 11.2
29 cholera 10.9
30 pertussis 10.8
31 albinism 10.7
32 autosomal recessive disease 10.7
33 adenoma 10.5
34 pseudohypoparathyroidism, type ia 10.5
35 fibrous dysplasia 10.4
36 immune deficiency disease 10.4
37 primary hemophagocytic lymphohistiocytosis 10.4 UNC13D STX11 RAB27A
38 hemophagocytic lymphohistiocytosis, familial, 3 10.4 UNC13D STX11 RAB27A
39 congenital diarrhea 10.4 STXBP2 MYO5A MLPH
40 agammaglobulinemia 10.3
41 glioma 10.3
42 glial tumor 10.3
43 hemophagocytic lymphohistiocytosis, familial, 5 10.3 STXBP2 STX11
44 diarrhea 2, with microvillus atrophy 10.3 STXBP2 MYO5A MLPH
45 lymphoproliferative syndrome 1 10.3 UNC13D STXBP2 STX11
46 pseudopseudohypoparathyroidism 10.3
47 spastic paraplegia 36, autosomal dominant 10.3 GAS2 GAS1
48 neuroblastoma 10.3
49 precocious puberty 10.3
50 pituitary tumors 10.3

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



Diseases related to Griscelli Syndrome

Symptoms & Phenotypes for Griscelli Syndrome

Human phenotypes related to Griscelli Syndrome:

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

MGI Mouse Phenotypes related to Griscelli Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.15 AP3B1 GAS1 GLUL IL10 LYST MLPH
2 hematopoietic system MP:0005397 10.1 AP3B1 IL10 LYST MYO5A RAB27A RAB27B
3 immune system MP:0005387 10.02 AP3B1 IL10 LYST MLPH MYO5A RAB27A
4 integument MP:0010771 9.86 AP3B1 IL10 LYST MLPH MYO5A PRODH
5 limbs/digits/tail MP:0005371 9.63 AP3B1 GAS1 IL10 LYST MYO5A PRODH
6 pigmentation MP:0001186 9.56 AP3B1 GAS1 LYST MLPH MYO5A PRODH
7 respiratory system MP:0005388 9.17 AP3B1 GAS1 IL10 LYST RAB27A RAB27B

Drugs & Therapeutics for Griscelli Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

Genetic tests related to Griscelli Syndrome:

# Genetic test Affiliating Genes
1 Griscelli Disease 29

Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

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

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 61 6
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. 61 6
12522785 2003
6
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 61 6
12058346 2002
7
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 61 6
12148598 2002
8
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 61 6
10835631 2000
9
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. 61 6
10704277 2000
10
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. 61 6
9207796 1997
11
A kindred with Griscelli disease: spectrum of neurological involvement. 61 6
8319705 1993
12
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. 61
31721180 2020
13
Griscelli syndrome type 2. 61
31199490 2020
14
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. 61
31233462 2019
15
Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. 61
30971555 2019
16
Myosin Va and spermine synthase: partners in exosome transport. 61
30967493 2019
17
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. 61
30934652 2019
18
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
19
[Griscelli syndrome type 3: A new case]. 61
30389201 2018
20
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. 61
30129079 2018
21
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome. 61
30338556 2018
22
Oral features of Griscelli syndrome type II: A rare case report. 61
30207398 2018
23
Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. 61
29398817 2018
24
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. 61
29875956 2018
25
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. 61
28836324 2017
26
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. 61
28585352 2017
27
Analogs of human genetic skin disease in domesticated animals. 61
28831430 2017
28
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. 61
28484936 2017
29
Griscelli syndrome: A rare disorder. 61
28681765 2017
30
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017
31
Further evidence for genotype-phenotype disparity in Griscelli syndrome. 61
27416802 2017
32
Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis 61
27095280 2017
33
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. 61
28357189 2017
34
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes. 61
28761265 2017
35
Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions. 61
27757761 2017
36
"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. 61
28232922 2017
37
Griscelli syndrome type-3. 61
27990386 2016
38
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. 61
27434021 2016
39
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 61
27416089 2016
40
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. 61
26960655 2016
41
Severe anemia due to parvovirus B19 in a silver haired boy. 61
26960654 2016
42
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. 61
26337734 2015
43
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. 61
26622160 2015
44
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). 61
25544030 2015
45
Seizure as the presenting manifestation in Griscelli syndrome type 2. 61
25801174 2015
46
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 61
25312756 2015
47
Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. 61
25121636 2015
48
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. 61
25564401 2015
49
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 61
25382070 2015
50
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. 61
25283056 2014

Variations for Griscelli Syndrome

ClinVar genetic disease variations for Griscelli Syndrome:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB27A NM_183235.3(RAB27A):c.149del (p.Arg50fs)deletion Pathogenic 504894 rs770601673 15:55526984-55526984 15:55234786-55234786
2 RAB27A NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn)SNV Conflicting interpretations of pathogenicity 316650 rs540520068 15:55522671-55522671 15:55230473-55230473
3 RAB27A NM_183235.3(RAB27A):c.-58A>GSNV Uncertain significance 316651 rs572723752 15:55562398-55562398 15:55270200-55270200
4 RAB27A NM_183235.3(RAB27A):c.*1678T>ASNV Uncertain significance 316619 rs540548388 15:55496027-55496027 15:55203829-55203829
5 RAB27A NM_183235.3(RAB27A):c.*1296T>GSNV Uncertain significance 316630 rs560689599 15:55496409-55496409 15:55204211-55204211
6 RAB27A NM_183235.3(RAB27A):c.*1170T>GSNV Uncertain significance 316631 rs574506558 15:55496535-55496535 15:55204337-55204337
7 RAB27A NM_183235.3(RAB27A):c.213G>T (p.Gln71His)SNV Uncertain significance 316649 rs776920896 15:55522625-55522625 15:55230427-55230427
8 RAB27A NM_183235.3(RAB27A):c.*723C>TSNV Uncertain significance 316640 rs886051311 15:55496982-55496982 15:55204784-55204784
9 RAB27A NM_183235.3(RAB27A):c.*162G>CSNV Uncertain significance 316645 rs886051315 15:55497543-55497543 15:55205345-55205345
10 RAB27A NM_183235.3(RAB27A):c.343+3_343+6delshort repeat Uncertain significance 316648 rs886051317 15:55520801-55520804 15:55228603-55228606
11 RAB27A NM_183235.3(RAB27A):c.*1922_*1923insTAAinsertion Uncertain significance 316614 rs555244731 15:55495782-55495783 15:55203584-55203585
12 RAB27A NM_183235.3(RAB27A):c.*1878T>CSNV Uncertain significance 316616 rs552625680 15:55495827-55495827 15:55203629-55203629
13 RAB27A NM_183235.3(RAB27A):c.*1863C>TSNV Uncertain significance 316617 rs566144766 15:55495842-55495842 15:55203644-55203644
14 RAB27A NM_183235.3(RAB27A):c.*1672T>CSNV Uncertain significance 316620 rs886051306 15:55496033-55496033 15:55203835-55203835
15 RAB27A NM_183235.3(RAB27A):c.*2334C>ASNV Uncertain significance 316608 rs886051304 15:55495371-55495371 15:55203173-55203173
16 RAB27A NM_183235.3(RAB27A):c.*2241_*2247deldeletion Uncertain significance 316609 rs565165091 15:55495458-55495464 15:55203260-55203266
17 RAB27A NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAATindel Uncertain significance 316615 rs886051305 15:55495785-55495790 15:55203587-55203592
18 RAB27A NM_183235.3(RAB27A):c.*1612dupduplication Uncertain significance 316623 rs886051307 15:55496092-55496093 15:55203894-55203895
19 RAB27A NM_183235.3(RAB27A):c.*1485G>ASNV Uncertain significance 316625 rs886051308 15:55496220-55496220 15:55204022-55204022
20 RAB27A NM_183235.3(RAB27A):c.*1473T>CSNV Uncertain significance 316626 rs568895039 15:55496232-55496232 15:55204034-55204034
21 RAB27A NM_183235.3(RAB27A):c.*730T>CSNV Uncertain significance 316639 rs886051310 15:55496975-55496975 15:55204777-55204777
22 RAB27A NM_183235.3(RAB27A):c.*561A>TSNV Uncertain significance 316641 rs886051312 15:55497144-55497144 15:55204946-55204946
23 RAB27A NM_183235.3(RAB27A):c.*388G>CSNV Uncertain significance 316643 rs886051314 15:55497317-55497317 15:55205119-55205119
24 RAB27A NM_183235.3(RAB27A):c.*121A>GSNV Uncertain significance 316646 rs886051316 15:55497584-55497584 15:55205386-55205386
25 RAB27A NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)SNV Uncertain significance 316647 rs757760608 15:55497845-55497845 15:55205647-55205647
26 RAB27A NM_183235.3(RAB27A):c.-142-46A>GSNV Uncertain significance 316653 rs8031271 15:55562528-55562528 15:55270330-55270330
27 RAB27A NM_183235.3(RAB27A):c.*858G>ASNV Uncertain significance 316635 rs886051309 15:55496847-55496847 15:55204649-55204649
28 RAB27A NM_183235.3(RAB27A):c.*425G>ASNV Uncertain significance 316642 rs886051313 15:55497280-55497280 15:55205082-55205082
29 RAB27A NM_183235.3(RAB27A):c.*1156T>GSNV Uncertain significance 316632 rs747438491 15:55496549-55496549 15:55204351-55204351
30 RAB27A NM_183235.3(RAB27A):c.*2067C>GSNV Likely benign 316610 rs7168226 15:55495638-55495638 15:55203440-55203440
31 RAB27A NM_183235.3(RAB27A):c.*387A>GSNV Likely benign 316644 rs73407873 15:55497318-55497318 15:55205120-55205120
32 RAB27A NM_183235.3(RAB27A):c.*2349A>GSNV Likely benign 316607 rs76970799 15:55495356-55495356 15:55203158-55203158
33 RAB27A NM_183235.3(RAB27A):c.*1392A>CSNV Likely benign 316629 rs12907749 15:55496313-55496313 15:55204115-55204115
34 RAB27A NM_183235.3(RAB27A):c.*731G>TSNV Likely benign 316638 rs76097718 15:55496974-55496974 15:55204776-55204776
35 RAB27A NM_183235.3(RAB27A):c.*842G>ASNV Likely benign 316637 rs59982153 15:55496863-55496863 15:55204665-55204665
36 RAB27A NM_183235.3(RAB27A):c.-142-5A>GSNV Likely benign 316652 rs61436564 15:55562487-55562487 15:55270289-55270289
37 RAB27A NM_183235.2(RAB27A):c.*2554C>TSNV Benign 369092 rs28564077 15:55495151-55495151 15:55202953-55202953
38 RAB27A NM_183235.3(RAB27A):c.*936C>ASNV Benign 316634 rs1061870 15:55496769-55496769 15:55204571-55204571
39 RAB27A NM_183235.3(RAB27A):c.*949A>GSNV Benign 316633 rs1061873 15:55496756-55496756 15:55204558-55204558
40 RAB27A NM_183235.3(RAB27A):c.*14C>TSNV Benign 259442 rs1050931 15:55497691-55497691 15:55205493-55205493
41 RAB27A NM_183235.3(RAB27A):c.*1594A>GSNV Benign 316624 rs1061821 15:55496111-55496111 15:55203913-55203913
42 RAB27A NM_183235.3(RAB27A):c.*1427G>ASNV Benign 316627 rs1061875 15:55496278-55496278 15:55204080-55204080
43 RAB27A NM_183235.3(RAB27A):c.*2007G>ASNV Benign 316611 rs6493769 15:55495698-55495698 15:55203500-55203500
44 RAB27A NM_183235.3(RAB27A):c.*1931T>CSNV Benign 316612 rs6493770 15:55495774-55495774 15:55203576-55203576
45 RAB27A NM_183235.3(RAB27A):c.*1926T>ASNV Benign 316613 rs8028801 15:55495779-55495779 15:55203581-55203581
46 RAB27A NM_183235.3(RAB27A):c.*1647T>GSNV Benign 316622 rs1061822 15:55496058-55496058 15:55203860-55203860
47 RAB27A NM_183235.3(RAB27A):c.*1418T>ASNV Benign 316628 rs1061874 15:55496287-55496287 15:55204089-55204089
48 RAB27A NM_183235.3(RAB27A):c.*1742A>GSNV Benign 316618 rs1061824 15:55495963-55495963 15:55203765-55203765
49 RAB27A NM_183235.3(RAB27A):c.*852C>TSNV Benign 316636 rs3179664 15:55496853-55496853 15:55204655-55204655
50 RAB27A NM_183235.3(RAB27A):c.*1662A>TSNV Benign 316621 rs1061823 15:55496043-55496043 15:55203845-55203845

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 membrane GO:0016020 10.31 UNC13D SYTL2 STXBP2 STX11 SLAMF6 RAB27B
2 recycling endosome GO:0055037 9.63 UNC13D RAB11FIP1 MYO5A
3 secretory granule GO:0030141 9.58 RAB27B RAB27A MYO5A
4 late endosome GO:0005770 9.46 UNC13D RAB27B RAB27A MYO5A
5 multivesicular body membrane GO:0032585 9.37 RAB27B RAB27A
6 zymogen granule membrane GO:0042589 9.32 STXBP2 RAB27B
7 Weibel-Palade body GO:0033093 9.26 UNC13D RAB27A
8 exocytic vesicle GO:0070382 9.13 UNC13D SYTL2 RAB27A
9 melanosome GO:0042470 8.92 SYTL2 RAB27B RAB27A MYO5A

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

(show all 16)
# 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 9.73 SYTL2 STX11 RAB27B RAB27A MLPH AP3B1
3 vesicle-mediated transport GO:0016192 9.63 SYTL2 STXBP2 STX11 RAB27A MYO5A AP3B1
4 defense response to protozoan GO:0042832 9.56 LYST IL10
5 leukocyte chemotaxis GO:0030595 9.55 LYST IL10
6 melanocyte differentiation GO:0030318 9.54 RAB27A MYO5A
7 pigmentation GO:0043473 9.54 RAB27A MYO5A LYST
8 melanosome organization GO:0032438 9.52 LYST AP3B1
9 multivesicular body sorting pathway GO:0071985 9.51 RAB27B RAB27A
10 positive regulation of exocytosis GO:0045921 9.5 UNC13D RAB27B RAB27A
11 regulation of mast cell degranulation GO:0043304 9.49 UNC13D STXBP2
12 natural killer cell degranulation GO:0043320 9.48 UNC13D RAB27A
13 melanosome localization GO:0032400 9.46 RAB27A MYO5A
14 positive regulation of regulated secretory pathway GO:1903307 9.4 UNC13D RAB27A
15 melanosome transport GO:0032402 9.26 RAB27B RAB27A MYO5A MLPH
16 exocytosis GO:0006887 9.1 UNC13D SYTL2 STXBP2 STX11 RAB27A MYO5A

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 9.02 UNC13D SYTL2 RAB11FIP1 MYO5A MLPH
2 myosin V binding GO:0031489 8.96 RAB27B RAB27A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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