GS
MCID: GRS003
MIFTS: 51

Griscelli Syndrome (GS) malady

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

Aliases & Classifications for Griscelli Syndrome

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:0060831
ICD10 33 E70.3
Orphanet 56 ORPHA381
ICD10 via Orphanet 34 E70.3

Summaries for Griscelli Syndrome

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.

MalaCards based summary : Griscelli Syndrome, also known as griscelli disease, is related to griscelli syndrome, type 1 and griscelli syndrome, type 2, and has symptoms including ataxia, fever and seizures. 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.

Wikipedia : 71 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 101)
id Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 12.5
2 griscelli syndrome, type 2 12.4
3 griscelli syndrome, type 3 12.3
4 pseudohypoparathyroidism 11.1
5 pseudohypoparathyroidism ic 10.9
6 gnas hyperfunction 10.9
7 elejalde disease 10.8
8 gerstmann syndrome 10.8
9 gitelman syndrome 10.8
10 glutamine deficiency, congenital 10.8
11 megaloblastic anemia-1, finnish type 10.8
12 cinca syndrome 10.8
13 mccune-albright syndrome, somatic, mosaic 10.8
14 pseudohypoparathyroidism, type ib 10.8
15 gilbert syndrome 10.8
16 madras motor neuron disease 10.2 RAB27A UNC13D
17 craniosynostosis 3 10.2 MYO5A RAB27A
18 adenoma 10.1
19 hidradenitis suppurativa 10.1 CCL5 IL10
20 dentinogenesis imperfecta, shields type ii 10.1 MLPH MYO5A RAB27A
21 thyroiditis 10.1
22 osteodysplasty precocious of danks mayne and kozlowski 10.1 CCL5 IL10
23 agammaglobulinemia, x-linked 1 10.1 AGFG1 RAB27A
24 leukoplakia of penis 10.1 CCL5 IL10
25 hereditary ataxia 10.1 IL10 RAB27A UNC13D
26 pulpitis 10.1 CCL5 IL10
27 erb-duchenne and dejerine-klumpke palsies 10.1 CCL5 IL10
28 hemophagocytic lymphohistiocytosis 10.0
29 albinism 10.0
30 glioma 10.0
31 neuroblastoma 10.0
32 mental retardation, autosomal recessive 47 10.0 LYST RAB27A UNC13D
33 albright's hereditary osteodystrophy 9.9
34 bladder signet ring cell adenocarcinoma 9.9 CCL5 IL10
35 hematopoietic stem cell transplantation 9.9
36 cholera 9.9
37 pituitary tumors 9.9
38 pituitary adenoma 9.9
39 neuronitis 9.8
40 crigler-najjar syndrome, type i 9.8 MLPH MYO5A MYRIP RAB27A
41 multiple endocrine neoplasia 9.8
42 status epilepticus 9.7
43 myositis 9.7
44 silvery hair syndrome 9.7
45 melanoma 9.7
46 dermatitis 9.7
47 chediak-higashi syndrome 9.7
48 atopic dermatitis 9.7
49 hydrocephalus 9.7
50 obstructive hydrocephalus 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 ataxia 56 32 Occasional (29-5%) HP:0001251
2 fever 56 32 Occasional (29-5%) HP:0001945
3 seizures 56 32 Occasional (29-5%) HP:0001250
4 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
5 nystagmus 56 32 Occasional (29-5%) HP:0000639
6 intellectual disability 56 32 Occasional (29-5%) HP:0001249
7 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
8 spasticity 56 32 Occasional (29-5%) HP:0001257
9 global developmental delay 56 32 Occasional (29-5%) HP:0001263
10 splenomegaly 56 32 Occasional (29-5%) HP:0001744
11 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
12 short stature 56 32 Occasional (29-5%) HP:0004322
13 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
14 immunodeficiency 56 32 Frequent (79-30%) HP:0002721
15 ascites 56 32 Occasional (29-5%) HP:0001541
16 hepatitis 56 32 Occasional (29-5%) HP:0012115
17 abnormality of movement 56 32 Occasional (29-5%) HP:0100022
18 bone marrow hypocellularity 56 32 Occasional (29-5%) HP:0005528
19 thrombocytopenia 56 32 Frequent (79-30%) HP:0001873
20 jaundice 56 32 Occasional (29-5%) HP:0000952
21 decreased antibody level in blood 56 32 Frequent (79-30%) HP:0004313
22 reduced tendon reflexes 56 32 Frequent (79-30%) HP:0001315
23 hypopigmented skin patches 56 32 Very frequent (99-80%) HP:0001053
24 abnormality of the eyelashes 56 32 Occasional (29-5%) HP:0000499
25 abnormality of the eyebrow 56 32 Occasional (29-5%) HP:0000534
26 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
27 abnormality of lipid metabolism 56 32 Frequent (79-30%) HP:0003119
28 pyloric stenosis 56 32 Occasional (29-5%) HP:0002021
29 abnormality of neutrophils 56 32 Frequent (79-30%) HP:0001874
30 white hair 56 32 Very frequent (99-80%) HP:0011364
31 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
32 iris hypopigmentation 56 32 Occasional (29-5%) HP:0007730
33 encephalocele 56 32 Occasional (29-5%) HP:0002084
34 edema of the lower limbs 56 32 Occasional (29-5%) HP:0010741
35 leukopenia 56 32 Frequent (79-30%) HP:0001882
36 silver-gray hair 56 32 Very frequent (99-80%) HP:0002218

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 31)
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
Melphalan Approved Phase 2 148-82-3 4053 460612
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13 Anti-Bacterial Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Antibodies Phase 2
16 Antifungal Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Antilymphocyte Serum Phase 2
19 Antimetabolites Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antirheumatic Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23 Dermatologic Agents Phase 2
24 gamma-Globulins Phase 2
25 Immunoglobulins Phase 2
26 Immunoglobulins, Intravenous Phase 2
27 Rho(D) Immune Globulin Phase 2
28
Mesna Approved 3375-50-6 598
29
Vidarabine Approved 24356-66-9 32326 21704
30 Antiviral Agents
31 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
2 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2
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

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, Neutrophil, Eye

Publications for Griscelli Syndrome

Articles related to Griscelli Syndrome:

(show top 50) (show all 90)
id Title Authors Year
1
Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )
2016
2
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome. ( 27434021 )
2016
3
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
4
Further evidence for genotype-phenotype disparity in Griscelli syndrome. ( 27416802 )
2016
5
Griscelli syndrome type-3. ( 27990386 )
2016
6
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )
2015
7
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
8
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )
2014
9
Griscelli syndrome: a case report. ( 25657774 )
2014
10
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. ( 25283056 )
2014
11
Griscelli syndrome. ( 25500851 )
2014
12
A case of Griscelli syndrome. ( 25419745 )
2014
13
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
14
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
15
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. ( 25312756 )
2014
16
Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome. ( 27366412 )
2014
17
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. ( 24711539 )
2014
18
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
19
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
20
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
21
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. ( 23135662 )
2012
22
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. ( 22711375 )
2012
23
Cellular and clinical report of new Griscelli syndrome type III cases. ( 21883982 )
2012
24
Molecular analysis and clinical findings of Griscelli syndrome patients. ( 22983416 )
2012
25
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. ( 23436972 )
2012
26
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
27
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. ( 22223973 )
2011
28
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
29
Hematopoietic SCT in children with Griscelli syndrome: a single-center experience. ( 20062095 )
2010
30
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. ( 20661159 )
2010
31
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
32
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
33
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
34
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
35
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
36
Griscelli syndrome type 1: a report of two cases and review of the literature. ( 19318926 )
2009
37
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
38
Griscelli syndrome: a model system to study vesicular trafficking. ( 19243575 )
2009
39
Griscelli syndrome and electroencephalography pattern. ( 18641887 )
2008
40
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. ( 18350256 )
2008
41
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. ( 18397837 )
2008
42
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. ( 19030707 )
2008
43
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
2008
44
Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )
2008
45
Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant. ( 18237235 )
2008
46
Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history. ( 19127029 )
2008
47
A further Turkish case of Griscelli syndrome with new RAB27A mutation. ( 18489042 )
2008
48
Griscelli syndrome. ( 17483661 )
2007
49
Griscelli syndrome type 2; a pediatric case with immunodeficiency. ( 17893437 )
2007
50
Light and scanning electron microscopic examination of hair in Griscelli syndrome. ( 17676217 )
2007

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 9.61 MYO5A RAB27A UNC13D
2 recycling endosome GO:0055037 9.54 MYO5A RAB11FIP1 UNC13D
3 secretory granule GO:0030141 9.5 MYO5A RAB27A RAB27B
4 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
5 photoreceptor outer segment GO:0001750 9.33 MYO5A MYRIP RAB27A
6 multivesicular body membrane GO:0032585 9.26 RAB27A RAB27B
7 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D
8 melanosome GO:0042470 8.92 MYO5A MYRIP RAB27A RAB27B

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.69 RAB27A RAB27B RAB28
2 defense response to protozoan GO:0042832 9.49 IL10 LYST
3 melanocyte differentiation GO:0030318 9.48 MYO5A RAB27A
4 leukocyte chemotaxis GO:0030595 9.46 IL10 LYST
5 exocytosis GO:0006887 9.46 CCL5 MYO5A RAB27A UNC13D
6 multivesicular body sorting pathway GO:0071985 9.43 RAB27A RAB27B
7 pigmentation GO:0043473 9.43 LYST MYO5A RAB27A
8 natural killer cell degranulation GO:0043320 9.4 RAB27A UNC13D
9 melanosome localization GO:0032400 9.37 MYO5A RAB27A
10 positive regulation of regulated secretory pathway GO:1903307 9.32 RAB27A UNC13D
11 positive regulation of exocytosis GO:0045921 9.13 RAB27A RAB27B UNC13D
12 melanosome transport GO:0032402 8.8 MYO5A RAB27A RAB27B

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 RAB11FIP1 UNC13D

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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