Griscelli Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GRS003 MIFTS: 58	Griscelli Syndrome Categories: Rare diseases, Genetic diseases, Neuronal diseases, Blood diseases, Skin diseases, Immune diseases, Eye diseases
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Aliases & Classifications for Griscelli Syndrome

MalaCards integrated aliases for Griscelli Syndrome:

Name: Griscelli Syndrome ¹² ⁷² ⁴⁹ ²⁴ ³⁶ ¹⁴

Griscelli Disease ⁷² ⁴⁹ ⁵⁵ ²⁸

Partial Albinism-Immunodeficiency Syndrome ¹² ⁵⁵

Chédiak-Higashi-Like Syndrome ¹² ⁵⁵

Griscelli-Pruniéras Syndrome ¹² ⁵⁵

Hypopigmentation Immunodeficiency Disease ²⁴

Hypopigmentation-Immunodeficiency Disease ⁶⁹

Partial Albinism with Immunodeficiency ²⁴

Gs ²⁴

Characteristics:

Orphanet epidemiological data:

⁵⁵

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Blood diseases Skin diseases Immune diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Albinism

Orphanet: ⁵⁵

Rare eye diseases

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0060831

ICD10 ³² E70.3

Orphanet ⁵⁵ ORPHA381

ICD10 via Orphanet ³³ E70.3

KEGG ³⁶ H02022

SNOMED-CT via HPO ⁶⁵ 230745008 563001 18165001 more

UMLS ⁶⁹ C0398794

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Summaries for Griscelli Syndrome

NIH Rare Diseases : ⁴⁹ 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 1 and griscelli syndrome, type 3, and has symptoms including hydrocephalus, abnormality of the eyelashes and nystagmus. 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

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

Genetics Home Reference : ²⁴ 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.

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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 118)

#	Related Disease	Score	Top Affiliating Genes
1	griscelli syndrome, type 1	33.9	COX5A MYO5A RAB27A
2	griscelli syndrome, type 3	32.4	MLPH MYO5A MYRIP RAB27A SYTL2
3	griscelli syndrome, type 2	32.1	CCL5 IL10 LYST MLPH MYO5A RAB27A
4	hemophagocytic lymphohistiocytosis	29.5	IL10 LYST RAB27A UNC13D
5	chediak-higashi syndrome	29.4	LYST RAB27A UNC13D
6	acrocephalopolydactylous dysplasia	11.4
7	pseudohypoparathyroidism	11.3
8	mccune-albright syndrome	11.2
9	cinca syndrome	11.2
10	pseudohypoparathyroidism, type ic	11.0
11	albinism, oculocutaneous, type ib	10.9
12	megaloblastic anemia 1	10.9
13	gitelman syndrome	10.9
14	glutamine deficiency, congenital	10.9
15	gerstmann syndrome	10.9
16	gilbert syndrome	10.9
17	pseudohypoparathyroidism, type ib	10.9
18	hemophagocytic lymphohistiocytosis, familial, 4	10.3	RAB27A UNC13D
19	macrophage activation syndrome	10.3	RAB27A UNC13D
20	adenoma	10.2
21	thyroiditis	10.2
22	vulvovaginitis	10.2	CCL5 IL10
23	piebald trait	10.2	MLPH MYO5A RAB27A
24	orofacial granulomatosis	10.2	CCL5 IL10
25	radiculopathy	10.2	CCL5 IL10
26	mycetoma	10.1	CCL5 IL10
27	genital herpes	10.1	CCL5 IL10
28	albinism	10.1
29	spotted fever	10.1	CCL5 IL10
30	neuroblastoma	10.1
31	glioma	10.1
32	hematopoietic stem cell transplantation	10.1
33	viral encephalitis	10.1	CCL5 IL10
34	albright's hereditary osteodystrophy	10.0
35	polyradiculoneuropathy	10.0	CCL5 IL10
36	cholera	10.0
37	pituitary adenoma	10.0
38	pituitary tumors	10.0
39	idiopathic neutropenia	9.9	CCL5 IL10
40	lymphatic system disease	9.9	RAB27A UNC13D
41	pseudohypoparathyroidism, type ia	9.9
42	neuronitis	9.9
43	multiple endocrine neoplasia	9.8
44	acrodysostosis 1 with or without hormone resistance	9.8
45	multiple endocrine neoplasia, type i	9.8
46	acrodysostosis 2 with or without hormone resistance	9.8
47	leukemia	9.8
48	lymphoma	9.8
49	fibrous dysplasia	9.8
50	hypothyroidism	9.8

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

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Symptoms & Phenotypes for Griscelli Syndrome

Human phenotypes related to Griscelli Syndrome:

⁵⁵ ³¹ (show all 37)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hydrocephalus ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000238
2	abnormality of the eyelashes ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000499
3	nystagmus ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
4	jaundice ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000952
5	hypopigmented skin patches ⁵⁵ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001053
6	intellectual disability ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
7	seizures ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001250
8	ataxia ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001251
9	muscular hypotonia ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001252
10	spasticity ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001257
11	global developmental delay ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001263
12	reduced tendon reflexes ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001315
13	ascites ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001541
14	splenomegaly ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001744
15	thrombocytopenia ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001873
16	abnormality of neutrophils ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001874
17	leukopenia ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001882
18	fever ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001945
19	pyloric stenosis ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002021
20	encephalocele ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002084
21	premature graying of hair ⁵⁵ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002216
22	silver-gray hair ⁵⁵ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002218
23	hepatomegaly ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002240
24	lymphadenopathy ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002716
25	immunodeficiency ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002721
26	abnormality of lipid metabolism ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003119
27	decreased antibody level in blood ⁵⁵ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004313
28	short stature ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004322
29	bone marrow hypocellularity ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005528
30	cranial nerve paralysis ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006824
31	iris hypopigmentation ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007730
32	edema of the lower limbs ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010741
33	white hair ⁵⁵ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011364
34	hepatitis ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012115
35	abnormality of movement ⁵⁵ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100022
36	abnormality of the eyebrow ⁵⁵		Occasional (29-5%)
37	abnormal eyebrow morphology ³¹	occasional (7.5%)		HP:0000534

MGI Mouse Phenotypes related to Griscelli Syndrome:

⁴³

#	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

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Drugs & Therapeutics for Griscelli Syndrome

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

(show all 31)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Alkylating Agents

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Melphalan

Approved

Phase 2

148-82-3

460612 4053

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Mycophenolate mofetil

Approved, Investigational

Phase 2

128794-94-5

5281078

Mycophenolic acid

Approved

Phase 2

24280-93-1

446541

Anti-Bacterial Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Antibodies

Phase 2

Antifungal Agents

Phase 2

Anti-Infective Agents

Phase 2

Antilymphocyte Serum

Phase 2

Antimetabolites

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Antirheumatic Agents

Phase 2

Antitubercular Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Cyclosporins

Phase 2

Dermatologic Agents

Phase 2

gamma-Globulins

Phase 2

Immunoglobulins

Phase 2

Immunoglobulins, Intravenous

Phase 2

Rho(D) Immune Globulin

Phase 2

Mesna

Approved, Investigational

3375-50-6

598

Vidarabine

Approved, Investigational

24356-66-9

21704 32326

Antiviral Agents

Protective Agents

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		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

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Genetic Tests for Griscelli Syndrome

Genetic tests related to Griscelli Syndrome:

#	Genetic test	Affiliating Genes
1	Griscelli Disease ²⁸

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Anatomical Context for Griscelli Syndrome

MalaCards organs/tissues related to Griscelli Syndrome:

³⁸

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

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Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 97)

#	Title	Authors	Year
1	Griscelli Syndrome with Fibronodular Sclerodermatous Chronic Graft Versus Host Disease. ( 29398817 )	Naithani R.	2018
2	Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene. ( 28484936 )	Yeetong P....Shotelersuk V.	2017
3	Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. ( 28836324 )	Kuskonmaz B....Uckan Cetinkaya D.	2017
4	Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature. ( 28357189 )	Minocha P....Sitaraman S.	2017
5	A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. ( 28585352 )	Grandin V....de Saint Basile G.	2017
6	"Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome. ( 28232922 )	Katoulis A.C....Rigopoulos D.	2017
7	Griscelli syndrome: A rare disorder. ( 28681765 )	Sahu C....Jaiswal S.J.	2017
8	Further evidence for genotype-phenotype disparity in Griscelli syndrome. ( 27416802 )	Lee J.Y....McGrath J.A.	2016
9	Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )	Rajyalakshmi R....Chakrapani R.N.	2016
10	Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. ( 27434021 )	Lipsker D.	2016
11	Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )	DemircioA9lu F....DaA9A+stan E.	2016
12	Griscelli syndrome type-3. ( 27990386 )	Shah B.J....Patel S.M.	2016
13	Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )	Nouriel A....Greenberger S.	2015
14	Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )	Panigrahi I....Behera B.	2015
15	An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )	Singh A....Tesi B.	2014
16	Griscelli syndrome: a case report. ( 25657774 )	Mansouri Nejad S.E....Eslamieh H.	2014
17	Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )	Mishra K....Batra V.V.	2014
18	Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. ( 25283056 )	YA+lmaz M....Sanal O.	2014
19	Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. ( 24711539 )	Saini A.G....Singhi P.	2014
20	Griscelli syndrome. ( 25500851 )	Ariffin H....Krishnan S.	2014
21	A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )	Kaur S....Virdi S.	2014
22	A case of Griscelli syndrome. ( 25419745 )	Kerketta J.A....Mandal K.	2014
23	Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. ( 25312756 )	Cetica V....AricA^ M.	2014
24	Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )	Henkes M....Brugger W.	2014
25	Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )	IA9ikay S.	2014
26	Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome. ( 27366412 )	GA1ngAPr A.^....KAPsem B.	2014
27	Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )	Hamidieh A.A....Ghavamzadeh A.	2013
28	Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. ( 23135662 )	Love P.B....Atwater A.R.	2012
29	Cellular and clinical report of new Griscelli syndrome type III cases. ( 21883982 )	Westbroek W....Anikster Y.	2012
30	Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )	CaA9daA9 D....Sanal O.	2012
31	Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. ( 23436972 )	Mahalingashetti P.B....Padhy S.	2012
32	Molecular analysis and clinical findings of Griscelli syndrome patients. ( 22983416 )	Durmaz A....Ozkinay C.	2012
33	Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )	Szczawinska-Poplonyk A....Langfort R.	2011
34	Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )	Reddy R.R....Hymavathi C.h.	2011
35	A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )	Shamsian B.S....Arzanian M.T.	2010
36	Hematopoietic SCT in children with Griscelli syndrome: a single-center experience. ( 20062095 )	Al-Ahmari A....El-Solh H.	2010
37	Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )	Meeths M....Henter J.I.	2010
38	Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )	Ohbayashi N....Parvaneh N.	2010
39	Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )	Born A.P....Vissing J.	2010
40	Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )	Vincent L.M....Huizing M.	2010
41	Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. ( 20661159 )	Al-Idrissi E....Basile G.d.e. .S.	2010
42	Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )	Pachlopnik Schmid J....Fischer A.	2009
43	Griscelli syndrome: a model system to study vesicular trafficking. ( 19243575 )	Van Gele M....Lambert J.	2009
44	Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )	Thomas E.R....Brady A.F.	2009
45	Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )	Rossi A....Calvieri S.	2009
46	A further Turkish case of Griscelli syndrome with new RAB27A mutation. ( 18489042 )	Onay H....Ozkinay F.	2008
47	Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. ( 18350256 )	Mamishi S....Parvaneh N.	2008
48	Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. ( 18237235 )	Akcakus M....Kose M.	2008
49	A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )	Pachlopnik Schmid J....de Saint Basile G.	2008
50	Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )	Masri A....Hamamy H.	2008

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Genes for Griscelli Syndrome

Genes related to Griscelli Syndrome (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication
1	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	59.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	MLPH	Melanophilin	Protein Coding	57.77	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	MYO5A	Myosin VA	Protein Coding	48.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
4	UNC13D	Unc-13 Homolog D	Protein Coding	24.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	17.45	GeneCards inferred via : Publications (show sections)
6	IL10	Interleukin 10	Protein Coding	17.45	GeneCards inferred via : Publications (show sections)
7	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	16.84	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
8	SYTL2	Synaptotagmin Like 2	Protein Coding	16.82	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
9	LYST	Lysosomal Trafficking Regulator	Protein Coding	16.53	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
10	MYRIP	Myosin VIIA And Rab Interacting Protein	Protein Coding	16.11	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
11	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	16	DISEASES inferred ¹⁴ GeneCards inferred via : DISEASES inferred (show sections)
12	RAB27B	RAB27B, Member RAS Oncogene Family	Protein Coding	15.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

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Variations for Griscelli Syndrome

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Expression for Griscelli Syndrome

Search GEO for disease gene expression data for Griscelli Syndrome.

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Pathways for Griscelli Syndrome

Pathways related to Griscelli Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Sertoli-Sertoli Cell Junction Dynamics ⁶⁰ Show member pathways Epithelial Tight Junctions ⁶⁰ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁰	12.34	MYO5A RAB27A RAB27B RAB28
2	Peptide hormone metabolism ⁶² Show member pathways Glycoprotein hormones ⁶² Insulin processing ⁶² Metabolism of Angiotensinogen to Angiotensins ⁶² Peptide hormone biosynthesis ⁶² Synthesis, secretion, and deacylation of Ghrelin ⁶²	11.59	MYO5A MYRIP RAB27A
3	Interleukin-10 signaling ⁶²	11.01	CCL5 IL10
4	Deregulation of Rab and Rab Effector Genes in Bladder Cancer ¹	10.3	MLPH MYRIP RAB27A RAB27B SYTL2 UNC13D
5	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) ²¹	10.03	RAB27A UNC13D

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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	9.58	MYO5A RAB27A UNC13D
2	secretory granule	GO:0030141	9.5	MYO5A RAB27A RAB27B
3	cortical actin cytoskeleton	GO:0030864	9.43	MLPH MYRIP
4	photoreceptor outer segment	GO:0001750	9.43	MYO5A MYRIP RAB27A
5	multivesicular body membrane	GO:0032585	9.37	RAB27A RAB27B
6	Weibel-Palade body	GO:0033093	9.16	RAB27A UNC13D
7	exocytic vesicle	GO:0070382	9.13	RAB27A SYTL2 UNC13D
8	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)

#	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	exocytosis	GO:0006887	9.35	CCL5 MYO5A RAB27A SYTL2 UNC13D
13	vesicle transport along actin filament	GO:0030050	9.33	MLPH MYO5A MYRIP
14	melanosome transport	GO:0032402	8.92	MLPH MYO5A RAB27A RAB27B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	myosin binding	GO:0017022	9.26	MLPH MYRIP
2	myosin V binding	GO:0031489	9.16	RAB27A RAB27B
3	GDP binding	GO:0019003	9.13	RAB27A RAB27B RAB28
4	Rab GTPase binding	GO:0017137	9.02	MLPH MYO5A MYRIP SYTL2 UNC13D
5	protein binding	GO:0005515	10.06	CCL5 COX5A IL10 LYST MLPH MYO5A

Sources

Sources for Griscelli Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia