MCID: GRS003
MIFTS: 54

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 50 25 14
Griscelli Disease 50 56 29
Partial Albinism-Immunodeficiency Syndrome 12 56
Chédiak-Higashi-Like Syndrome 12 56
Griscelli-Pruniéras Syndrome 12 56
Hypopigmentation Immunodeficiency Disease 25
Hypopigmentation-Immunodeficiency Disease 69
Partial Albinism with Immunodeficiency 25
Gs 25

Characteristics:

Orphanet epidemiological data:

56
griscelli disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Griscelli Syndrome

NIH Rare Diseases : 50 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. last updated: 1/6/2007

MalaCards based summary : Griscelli Syndrome, also known as griscelli disease, is related to griscelli syndrome, type 2 and chediak-higashi syndrome, and has symptoms including short stature, nystagmus and ataxia. An important gene associated with Griscelli Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Peptide hormone metabolism. 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 integument and pigmentation

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.

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

Wikipedia : 72 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 3 Griscelli Syndrome, Type 1
Griscelli Syndrome, Type 2

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

(show top 50) (show all 105)
id Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 33.9 MYO5A RAB27A
2 chediak-higashi syndrome 29.4 LYST RAB27A UNC13D
3 griscelli syndrome, type 1 12.5
4 griscelli syndrome, type 3 12.3
5 pseudohypoparathyroidism 11.1
6 cinca syndrome 11.1
7 pseudohypoparathyroidism ic 10.9
8 gnas hyperfunction 10.9
9 albinism, oculocutaneous, type ib 10.8
10 elejalde disease 10.8
11 megaloblastic anemia-1, finnish type 10.8
12 gerstmann syndrome 10.8
13 gitelman syndrome 10.8
14 glutamine deficiency, congenital 10.8
15 mccune-albright syndrome, somatic, mosaic 10.7
16 pseudohypoparathyroidism, type ib 10.7
17 gilbert syndrome 10.7
18 macular dystrophy, atypical vitelliform 10.5 RAB27A UNC13D
19 periventricular nodular heterotopia 3 10.3 MLPH MYO5A RAB27A
20 hidradenitis suppurativa 10.3 CCL5 IL10
21 oropharyngeal cancer, childhood 10.2 CCL5 IL10
22 agammaglobulinemia, x-linked 1 10.2 AGFG1 RAB27A
23 vascular dementia 10.2 CCL5 IL10
24 pediatric supratentorial ependymoma 10.2 RAB27A UNC13D
25 myofascial pain syndrome 10.2 CCL5 IL10
26 mycobacterium gordonae 10.2 CCL5 IL10
27 psychologic dyspareunia 10.2 CCL5 IL10
28 adenoma 10.1
29 dysphagia 10.1 CCL5 IL10
30 thyroiditis 10.1
31 epidermolysis bullosa acquisita 10.1 CCL5 IL10
32 ovarian mucinous adenofibroma 10.1 CCL5 IL10
33 hemophagocytic lymphohistiocytosis 10.0
34 albinism 10.0
35 glioma 10.0
36 neuroblastoma 10.0
37 hematopoietic stem cell transplantation 10.0
38 pituitary adenoma 9.9
39 cholera 9.9
40 pituitary tumors 9.9
41 neuronitis 9.8
42 multiple endocrine neoplasia 9.8
43 iida kannari syndrome 9.7 CCL5 IL10
44 myelodysplastic syndrome 9.7
45 albinism immunodeficiency 9.7
46 hydrocephalus 9.7
47 lymphomatoid granulomatosis 9.7
48 status epilepticus 9.7
49 myositis 9.7
50 silvery hair syndrome 9.7

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:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 spasticity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001257
5 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
6 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
7 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
8 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
10 thrombocytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001873
11 leukopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001882
12 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
13 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
14 immunodeficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002721
15 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
16 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
17 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
18 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
19 encephalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002084
20 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
21 hypopigmented skin patches 56 32 hallmark (90%) Very frequent (99-80%) HP:0001053
22 silver-gray hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002218
23 pyloric stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002021
24 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
25 white hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0011364
26 edema of the lower limbs 56 32 occasional (7.5%) Occasional (29-5%) HP:0010741
27 hepatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012115
28 abnormality of movement 56 32 occasional (7.5%) Occasional (29-5%) HP:0100022
29 bone marrow hypocellularity 56 32 occasional (7.5%) Occasional (29-5%) HP:0005528
30 decreased antibody level in blood 56 32 frequent (33%) Frequent (79-30%) HP:0004313
31 reduced tendon reflexes 56 32 frequent (33%) Frequent (79-30%) HP:0001315
32 abnormality of the eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000499
33 abnormality of the eyebrow 56 32 occasional (7.5%) Occasional (29-5%) HP:0000534
34 abnormality of lipid metabolism 56 32 frequent (33%) Frequent (79-30%) HP:0003119
35 abnormality of neutrophils 56 32 frequent (33%) Frequent (79-30%) HP:0001874
36 iris hypopigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007730

MGI Mouse Phenotypes related to Griscelli Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 IL10 LYST MLPH MYO5A RAB27A RAB27B
2 pigmentation MP:0001186 9.02 LYST MLPH MYO5A RAB27A RAB27B

Drugs & Therapeutics for Griscelli Syndrome

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Melphalan Approved Phase 2 148-82-3 4053 460612
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11 Anti-Bacterial Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Antibodies Phase 2
14 Antifungal Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Antilymphocyte Serum Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antirheumatic Agents Phase 2
20 Calcineurin Inhibitors Phase 2
21 Cyclosporins Phase 2
22 Dermatologic Agents Phase 2
23 gamma-Globulins Phase 2
24 Immunoglobulins Phase 2
25 Immunoglobulins, Intravenous Phase 2
26 Rho(D) Immune Globulin Phase 2
27
Mesna Approved 3375-50-6 598
28
Vidarabine Approved 24356-66-9 32326 21704
29 Antiviral Agents
30 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status 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 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:

id Genetic test Affiliating Genes
1 Griscelli Disease 29

Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

39
Skin, Bone, Bone Marrow, T Cells, Brain, Lymph Node, Neutrophil

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 96)
id Title Authors Year
1
"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. ( 28232922 )
2017
2
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )
2017
3
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. ( 28836324 )
2017
4
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )
2017
5
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. ( 28357189 )
2017
6
Griscelli syndrome: A rare disorder. ( 28681765 )
2017
7
Griscelli syndrome type-3. ( 27990386 )
2016
8
Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )
2016
9
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
10
Further evidence for genotype-phenotype disparity in Griscelli syndrome. ( 27416802 )
2016
11
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. ( 27434021 )
2016
12
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )
2015
13
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
14
Griscelli syndrome: a case report. ( 25657774 )
2014
15
Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome. ( 27366412 )
2014
16
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. ( 24711539 )
2014
17
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
18
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
19
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
20
A case of Griscelli syndrome. ( 25419745 )
2014
21
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. ( 25312756 )
2014
22
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
23
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )
2014
24
Griscelli syndrome. ( 25500851 )
2014
25
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. ( 25283056 )
2014
26
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
27
Cellular and clinical report of new Griscelli syndrome type III cases. ( 21883982 )
2012
28
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )
2012
29
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. ( 23135662 )
2012
30
Molecular analysis and clinical findings of Griscelli syndrome patients. ( 22983416 )
2012
31
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. ( 23436972 )
2012
32
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
33
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
34
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. ( 20661159 )
2010
35
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
36
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
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
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
40
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
41
Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )
2009
42
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
43
Griscelli syndrome: a model system to study vesicular trafficking. ( 19243575 )
2009
44
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
45
Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. ( 19127029 )
2008
46
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
2008
47
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. ( 19030707 )
2008
48
Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )
2008
49
A further Turkish case of Griscelli syndrome with new RAB27A mutation. ( 18489042 )
2008
50
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. ( 18237235 )
2008

Variations for Griscelli Syndrome

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:

id Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 9.58 MYO5A RAB27A UNC13D
2 secretory granule GO:0030141 9.5 MYO5A RAB27A RAB27B
3 photoreceptor outer segment GO:0001750 9.43 MYO5A MYRIP RAB27A
4 multivesicular body membrane GO:0032585 9.37 RAB27A RAB27B
5 Weibel-Palade body GO:0033093 9.16 RAB27A UNC13D
6 exocytic vesicle GO:0070382 9.13 RAB27A SYTL2 UNC13D
7 melanosome GO:0042470 9.02 MYO5A MYRIP RAB27A RAB27B SYTL2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.71 MLPH MYRIP SYTL2
2 vesicle-mediated transport GO:0016192 9.7 MYO5A RAB27A SYTL2
3 defense response to protozoan GO:0042832 9.51 IL10 LYST
4 pigmentation GO:0043473 9.5 LYST MYO5A RAB27A
5 melanocyte differentiation GO:0030318 9.49 MYO5A RAB27A
6 leukocyte chemotaxis GO:0030595 9.48 IL10 LYST
7 multivesicular body sorting pathway GO:0071985 9.46 RAB27A RAB27B
8 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
9 positive regulation of exocytosis GO:0045921 9.43 RAB27A RAB27B UNC13D
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 MYO5A RAB27A RAB27B
13 exocytosis GO:0006887 9.02 CCL5 MYO5A RAB27A SYTL2 UNC13D
14 vesicle transport along actin filament GO:0030050 8.65 MYO5A

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

id Name GO ID Score Top Affiliating Genes
1 myosin V binding GO:0031489 9.16 RAB27A RAB27B
2 GDP binding GO:0019003 9.13 RAB27A RAB27B RAB28
3 Rab GTPase binding GO:0017137 9.02 MLPH MYO5A MYRIP SYTL2 UNC13D
4 myosin binding GO:0017022 8.96 MYRIP

Sources for Griscelli Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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