MCID: GRS003
MIFTS: 45

Griscelli Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Immune diseases, Neuronal diseases, Blood diseases categories

Summaries for Griscelli Syndrome

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Genetics Home Reference:21 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 partial albinism - immunodeficiency, is related to griscelli syndrome, type 2 and hemophagocytic lymphohistiocytosis, and has symptoms including hypopigmented skin patches, premature graying of hair and hypopigmentation of hair. An important gene associated with Griscelli Syndrome is MYO5A (myosin VA (heavy chain 12, myoxin)), and among its related pathways are Peptide hormone metabolism and wtCFTR and deltaF508 traffic Late endosome and Lysosome norm and CF . The compounds sodium and gtp have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotypes are pigmentation and immune system.

Wikipedia:63 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation)... more...

Aliases & Classifications for Griscelli Syndrome

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Griscelli Syndrome, Aliases & Descriptions:

Name: Griscelli Syndrome 41 21
Partial Albinism - Immunodeficiency 41 47
Chédiak-Higashi-Like Syndrome 41 47
 
Griscelli-Pruniéras Syndrome 41 47
Griscelli Disease 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
partial albinism - immunodeficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 381
ICD10 via Orphanet26 E70.3

Related Diseases for Griscelli Syndrome

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



Diseases related to griscelli syndrome

Symptoms for Griscelli Syndrome

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Symptoms:

 47 (show all 34)
  • irregular/patchy skin hypopigmentation
  • premature greying of hair
  • albinism (hair)
  • autosomal recessive inheritance
  • lymphadenopathy/polyadenopathies
  • areflexia/hyporeflexia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • leukopenia/hypoleukocytosis
  • polynuclear cells/neutrophils anomalies/neutropenia
  • thrombocytopenia/thrombopenia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • iris albinism/ocular albinism
  • nystagmus
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • ascitis
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • edema of the legs/lower limbs
  • encephalocele/exencephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • cranial nerves palsy
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • bone marrow failure/pancytopenia
  • short stature/dwarfism/nanism
  • fever/chilling

HPO human phenotypes related to Griscelli Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 premature graying of hair hallmark (90%) HP:0002216
3 hypopigmentation of hair hallmark (90%) HP:0005599
4 reduced tendon reflexes typical (50%) HP:0001315
5 thrombocytopenia typical (50%) HP:0001873
6 abnormality of neutrophils typical (50%) HP:0001874
7 leukopenia typical (50%) HP:0001882
8 lymphadenopathy typical (50%) HP:0002716
9 abnormality of lipid metabolism typical (50%) HP:0003119
10 hypogammaglobulinemia typical (50%) HP:0004313
11 hydrocephalus occasional (7.5%) HP:0000238
12 abnormality of the eyebrow occasional (7.5%) HP:0000534
13 nystagmus occasional (7.5%) HP:0000639
14 ocular albinism occasional (7.5%) HP:0001107
15 seizures occasional (7.5%) HP:0001250
16 muscular hypotonia occasional (7.5%) HP:0001252
17 hypertonia occasional (7.5%) HP:0001276
18 ascites occasional (7.5%) HP:0001541
19 splenomegaly occasional (7.5%) HP:0001744
20 encephalocele occasional (7.5%) HP:0002084
21 cerebral cortical atrophy occasional (7.5%) HP:0002120
22 hepatomegaly occasional (7.5%) HP:0002240
23 incoordination occasional (7.5%) HP:0002311
24 short stature occasional (7.5%) HP:0004322
25 abnormality of temperature regulation occasional (7.5%) HP:0004370
26 bone marrow hypocellularity occasional (7.5%) HP:0005528
27 cranial nerve paralysis occasional (7.5%) HP:0006824
28 edema of the lower limbs occasional (7.5%) HP:0010741
29 abnormality of movement occasional (7.5%) HP:0100022
30 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Griscelli Syndrome

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Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome

Search NIH Clinical Center for Griscelli Syndrome

Genetic Tests for Griscelli Syndrome

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Anatomical Context for Griscelli Syndrome

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MalaCards organs/tissues related to Griscelli Syndrome:

31
Skin, Bone marrow, Bone, Neutrophil, Eye, Liver, B cells

Animal Models for Griscelli Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Griscelli Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9RAB27A, RAB27B, MYO5A, MLPH
2MP:00053878.1SLAMF6, RAB27A, CCL5, MYO5A, UNC13D, MLPH
3MP:00053977.6UNC13D, MYO5A, CCL5, RAB27B, RAB27A, SLAMF6

Publications for Griscelli Syndrome

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Articles related to Griscelli Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Seizure as the presenting manifestation in griscelli syndrome type 2. (25801174)
2015
2
Cerebellar involvement of Griscelli syndrome type 2. (25315806)
2014
3
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. (25283056)
2014
4
Griscelli syndrome. (25500851)
2014
5
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. (25046460)
2014
6
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. (24711539)
2014
7
An Indian boy with griscelli syndrome type 2: case report and review of literature. (25071262)
2014
8
Griscelli syndrome: a case report. (25657774)
2014
9
Molecular analysis and clinical findings of Griscelli syndrome patients. (22983416)
2012
10
Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. (23436972)
2012
11
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)
2012
12
Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. (22223973)
2011
13
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. (22111599)
2011
14
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. (20034795)
2010
15
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. (20661159)
2010
16
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. (20591709)
2010
17
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. (19270433)
2009
18
Griscelli syndrome: a model system to study vesicular trafficking. (19243575)
2009
19
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
20
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. (18397837)
2008
21
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. (18350256)
2008
22
Griscelli syndrome type 2: a rare and lethal disorder. (18403584)
2008
23
Griscelli syndrome and electroencephalography pattern. (18641887)
2008
24
Griscelli syndrome: a case report. (17786788)
2007
25
Griscelli syndrome type 2; a pediatric case with immunodeficiency. (17893437)
2007
26
Griscelli syndrome. (17483661)
2007
27
Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. (17910659)
2007
28
Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. (17085000)
2007
29
Bilateral basal ganglia involvement in a patient with Griscelli syndrome. (16952471)
2006
30
Griscelli syndrome. (16844525)
2006
31
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. (15357836)
2004
32
Griscelli syndrome: a rare immunodeficiency disorder with partial albinism. (15187349)
2004
33
Myelodysplastic features in Griscelli syndrome. (15111776)
2004
34
Griscelli syndrome. (15053385)
2004
35
Comment on Elejalde syndrome and relationship with Griscelli syndrome. (12522801)
2003
36
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (12446441)
2003
37
Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. (14581742)
2003
38
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (12897212)
2003
39
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (12531900)
2003
40
Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. (12122117)
2002
41
Griscelli syndrome: report of a case and review of the literature. (11380929)
2001
42
Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. (11571516)
2001
43
Interleukin-2 mediated restoration of natural killer cell function in a patient with Griscelli syndrome. (11014477)
2000
44
Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl. (10653334)
2000
45
Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (10733681)
2000
46
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (10835631)
2000
47
Myelodysplastic syndrome associated with Griscelli syndrome. (9716020)
1998
48
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. (9486701)
1998
49
High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. (7977308)
1994
50
Partial albinism with immunodeficiency (Griscelli syndrome). (7996360)
1994

Variations for Griscelli Syndrome

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Clinvar genetic disease variations for Griscelli Syndrome:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1MYO5AMYO5A, 2332C-Tsingle nucleotide variantPathogenic
2MYO5AMYO5A, 47-BP INS, NT4634insertionPathogenic
3MYO5AMYO5A, F-EXON DELdeletionPathogenic
4MLPHNM_024101.6(MLPH): c.103C> T (p.Arg35Trp)single nucleotide variantPathogenicrs119473031GRCh37Chr 2, 238402172: 238402172
5RAB27ANM_183235.2(RAB27A): c.217T> G (p.Trp73Gly)single nucleotide variantPathogenicrs28938176GRCh37Chr 15, 55522621: 55522621
6RAB27ARAB27A, INV3DS, A-G, +3single nucleotide variantPathogenic
7RAB27ARAB27A, 550C-Tsingle nucleotide variantPathogenic
8RAB27ARAB27A, 67.5-KB DELdeletionPathogenic
9RAB27ANM_183235.2(RAB27A): c.389T> C (p.Leu130Pro)single nucleotide variantPathogenicrs104894498GRCh37Chr 15, 55516165: 55516165
10RAB27ANM_183235.2(RAB27A): c.454G> C (p.Ala152Pro)single nucleotide variantPathogenicrs104894499GRCh37Chr 15, 55516100: 55516100
11RAB27ARAB27A, 2-BP DEL, 51CTdeletionPathogenic
12RAB27ARAB27A, IVS5, G-C, +1single nucleotide variantPathogenic
13RAB27ANM_183235.2(RAB27A): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs104894500GRCh37Chr 15, 55516202: 55516202
14RAB27ANM_183235.2(RAB27A): c.259G> C (p.Ala87Pro)single nucleotide variantPathogenicrs104894497GRCh37Chr 15, 55520891: 55520891

Expression for genes affiliated with Griscelli Syndrome

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Search GEO for disease gene expression data for Griscelli Syndrome.

Pathways for genes affiliated with Griscelli Syndrome

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Compounds for genes affiliated with Griscelli Syndrome

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Sources:
43Novoseek, 24HMDB, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1sodium43 2410.3AGFG1, RAB27A, CCL5
2gtp43 2810.0CCL5, RAB27A, AGFG1
3glucose438.9AGFG1, RAB27A, CCL5, MYO5A

GO Terms for genes affiliated with Griscelli Syndrome

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Cellular components related to Griscelli Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:00703829.9RAB27A, UNC13D
2microtubule plus-endGO:00353719.9MYO5A, MLPH
3photoreceptor outer segmentGO:00017509.9MYO5A, RAB27A
4melanosomeGO:00424709.9RAB27A, MYO5A
5multivesicular body membraneGO:00325859.7RAB27A, RAB27B
6late endosomeGO:00057709.5RAB27A, UNC13D
7recycling endosomeGO:00550379.2RAB11FIP1, UNC13D

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:00433209.9UNC13D, RAB27A
2melanosome transportGO:00324029.9RAB27A, MYO5A
3protein targetingGO:00066059.7RAB27A, MLPH
4multivesicular body sorting pathwayGO:00719859.7RAB27B, RAB27A
5melanocyte differentiationGO:00303189.7RAB27A, MYO5A, MLPH
6exocytosisGO:00068879.6RAB27A, CCL5, MYO5A
7positive regulation of exocytosisGO:00459219.5RAB27A, RAB27B, UNC13D
8cellular protein metabolic processGO:00442679.3RAB27A, MYO5A, PIGB
9protein transportGO:00150318.5MYO5A, RAB27B, RAB11FIP1

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

idNameGO IDScoreTop Affiliating Genes
1Rab GTPase bindingGO:00171379.8MYO5A, MLPH
2myosin V bindingGO:00314899.7RAB27A, MLPH
3GDP bindingGO:00190039.3RAB27A, RAB27B

Products for genes affiliated with Griscelli Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Griscelli Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet