GS2
MCID: GRS014
MIFTS: 51

Griscelli Syndrome, Type 2 (GS2) malady

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

Aliases & Classifications for Griscelli Syndrome, Type 2

Aliases & Descriptions for Griscelli Syndrome, Type 2:

Name: Griscelli Syndrome, Type 2 54 24 13 52 69
Griscelli Syndrome Type 2 12 50 42 14
Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome 12 50 56
Griscelli-Pruniéras Syndrome Type 2 12 50 56
Gs2 12 50 66
Griscelli Syndrome with Hemophagocytic Syndrome 12 50
Partial Albinism and Immunodeficiency Syndrome 12 50
Griscelli Syndrome 2 66 29
Paid Syndrome 12 50
Griscelli Disease Type 2 56
Paid Sndrome 24

Characteristics:

Orphanet epidemiological data:

56
griscelli disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: late childhood;

HPO:

32
griscelli syndrome, type 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset
Mortality/Aging death in childhood


Classifications:



External Ids:

OMIM 54 607624
Disease Ontology 12 DOID:0060833
ICD10 33 E70.3
MeSH 42 C537302
Orphanet 56 ORPHA79477
MESH via Orphanet 43 C537302
ICD10 via Orphanet 34 E70.3
UMLS via Orphanet 70 C1868679
MedGen 40 C1868679
UMLS 69 C1868679

Summaries for Griscelli Syndrome, Type 2

NIH Rare Diseases : 50 griscelli syndrome type 2 (gs2) is a rare, inherited condition that affects the skin, hair, and immune system. people with gs2 have unusually light skin and silver-colored hair. they are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (hlh). hlh can damage organs and tissues throughout the body, causing life-threatening complications. gs2 is caused by changes (mutations) in the rab27a gene and is inherited in an autosomal recessive manner. the only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). untreated, most children with gs2 do not survive past early childhood. last updated: 5/1/2017

MalaCards based summary : Griscelli Syndrome, Type 2, also known as griscelli syndrome type 2, is related to griscelli syndrome, type 1 and griscelli syndrome, and has symptoms including fever, seizures and nausea and vomiting. An important gene associated with Griscelli Syndrome, Type 2 is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Interleukin-10 signaling and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The drugs Melphalan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are immune system and vision/eye

UniProtKB/Swiss-Prot : 66 Griscelli syndrome 2: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.

Disease Ontology : 12 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.

Wikipedia : 71 Griscelli syndrome type 2 (also known as \"Partial albinism with immunodeficiency\") is a rare autosomal... more...

Description from OMIM: 607624

Related Diseases for Griscelli Syndrome, Type 2

Diseases in the Griscelli Syndrome family:

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

Diseases related to Griscelli Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 11.0
2 griscelli syndrome 10.5
3 craniosynostosis 3 10.2 MYO5A RAB27A
4 madras motor neuron disease 10.1 RAB27A UNC13D
5 hidradenitis suppurativa 10.1 CCL5 IL10
6 osteodysplasty precocious of danks mayne and kozlowski 10.1 CCL5 IL10
7 leukoplakia of penis 10.1 CCL5 IL10
8 pulpitis 10.1 CCL5 IL10
9 bladder signet ring cell adenocarcinoma 10.1 CCL5 IL10
10 erb-duchenne and dejerine-klumpke palsies 10.0 CCL5 IL10
11 crigler-najjar syndrome, type i 10.0 MLPH MYO5A RAB27A
12 dentinogenesis imperfecta, shields type ii 10.0 MLPH MYO5A RAB27A
13 non-gestational choriocarcinoma 10.0 CCL5 IL10
14 mental retardation, autosomal recessive 47 10.0 RAB27A UNC13D
15 immunoglobulin g deficiency 10.0 CCL5 IL10
16 agammaglobulinemia, x-linked 1 10.0 AGFG1 RAB27A
17 lumbar spinal canal and spinal cord meningioma 10.0 RAB27A UNC13D
18 causalgia 10.0 CCL5 IL10
19 hematopoietic stem cell transplantation 10.0
20 hemophagocytic lymphohistiocytosis 10.0
21 breast apocrine carcinoma in situ 9.9 CCL5 IL10
22 mansonelliasis 9.9 CCL5 IL10
23 myositis 9.8
24 lymphomatoid granulomatosis 9.8
25 hereditary ataxia 9.7 IL10 RAB27A UNC13B UNC13D
26 patterned macular dystrophy 9.1 AGFG1 CCL5 IL10 MLPH MYO5A RAB27A
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 8.9 AGFG1 CCL5 IL10 MLPH MYO5A RAB27A

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 2:



Diseases related to Griscelli Syndrome, Type 2

Symptoms & Phenotypes for Griscelli Syndrome, Type 2

Symptoms by clinical synopsis from OMIM:

607624

Clinical features from OMIM:

607624

Human phenotypes related to Griscelli Syndrome, Type 2:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Occasional (29-5%) HP:0001945
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
4 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
5 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
6 hypertonia 56 32 Occasional (29-5%) HP:0001276
7 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
8 pancytopenia 56 32 Very frequent (99-80%) HP:0001876
9 jaundice 56 32 Frequent (79-30%) HP:0000952
10 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
11 hypopigmentation of hair 56 32 Very frequent (99-80%) HP:0005599
12 hyperlipidemia 56 32 Frequent (79-30%) HP:0003077
13 neutropenia 56 32 Frequent (79-30%) HP:0001875
14 petechiae 56 32 Occasional (29-5%) HP:0000967
15 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
16 iris hypopigmentation 56 32 Occasional (29-5%) HP:0007730
17 partial albinism 56 32 Very frequent (99-80%) HP:0007443
18 pulmonary infiltrates 56 32 Occasional (29-5%) HP:0002113
19 hemophagocytosis 56 32 Very frequent (99-80%) HP:0012156
20 spasticity 32 HP:0001257
21 abnormality of the cerebellum 32 HP:0001317
22 recurrent bacterial infections 32 HP:0002718
23 hypopigmentation of the skin 32 HP:0001010
24 silver-gray hair 32 HP:0002218
25 progressive neurologic deterioration 32 HP:0002344
26 accumulation of melanosomes in melanocytes 32 HP:0001008
27 melanin pigment aggregation in hair shafts 32 HP:0002220
28 reduced delayed hypersensitivity 32 HP:0002972

UMLS symptoms related to Griscelli Syndrome, Type 2:


muscle spasticity, seizures

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 CCL5 IL10 MLPH MYO5A RAB27A UNC13D
2 vision/eye MP:0005391 9.02 IL10 MLPH MYO5A RAB27A UNC13B

Drugs & Therapeutics for Griscelli Syndrome, Type 2

Drugs for Griscelli Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melphalan Approved 148-82-3 4053 460612
2
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
3
Fludarabine Approved 21679-14-1, 75607-67-9 30751
4
Vidarabine Approved 24356-66-9 32326 21704
5
Busulfan Approved, Investigational 55-98-1 2478
6
Mesna Approved 3375-50-6 598
7
alemtuzumab Approved, Investigational 216503-57-0
8 Alkylating Agents
9 Anti-Infective Agents
10 Immunosuppressive Agents
11 Protective Agents
12 Antimetabolites
13 Antimetabolites, Antineoplastic
14 Antirheumatic Agents
15 Antineoplastic Agents, Alkylating
16 Antiviral Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092

Search NIH Clinical Center for Griscelli Syndrome, Type 2

Cochrane evidence based reviews: griscelli syndrome type 2

Genetic Tests for Griscelli Syndrome, Type 2

Genetic tests related to Griscelli Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Griscelli Syndrome Type 2 29
2 Griscelli Syndrome, Type 2 24 RAB27A

Anatomical Context for Griscelli Syndrome, Type 2

MalaCards organs/tissues related to Griscelli Syndrome, Type 2:

39
Skin, Bone, Bone Marrow, Eye, Cerebellum

Publications for Griscelli Syndrome, Type 2

Articles related to Griscelli Syndrome, Type 2:

(show all 20)
id Title Authors Year
1
Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. ( 26960655 )
2016
2
Seizure as the presenting manifestation in griscelli syndrome type 2. ( 25801174 )
2015
3
An Indian boy with griscelli syndrome type 2: case report and review of literature. ( 25071262 )
2014
4
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). ( 25544030 )
2014
5
Cerebellar involvement of Griscelli syndrome type 2. ( 25315806 )
2014
6
Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. ( 24678334 )
2014
7
Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2. ( 23714271 )
2013
8
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. ( 22111599 )
2011
9
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. ( 20591709 )
2010
10
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation. ( 20034795 )
2010
11
A novel RAB27A mutation in a patient with Griscelli syndrome type 2. ( 21314004 )
2010
12
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. ( 19953648 )
2010
13
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. ( 20370853 )
2010
14
Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation. ( 19270433 )
2009
15
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. ( 19403888 )
2009
16
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. ( 18350256 )
2008
17
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. ( 19030707 )
2008
18
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ( 18991284 )
2008
19
Griscelli syndrome type 2: a rare and lethal disorder. ( 18403584 )
2008
20
Griscelli syndrome type 2; a pediatric case with immunodeficiency. ( 17893437 )
2007

Variations for Griscelli Syndrome, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome, Type 2:

66
id Symbol AA change Variation ID SNP ID
1 RAB27A p.Trp73Gly VAR_010654 rs28938176
2 RAB27A p.Leu130Pro VAR_011334 rs104894498
3 RAB27A p.Ala152Pro VAR_011335 rs104894499

ClinVar genetic disease variations for Griscelli Syndrome, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB27A NM_183235.2(RAB27A): c.217T> G (p.Trp73Gly) single nucleotide variant Pathogenic rs28938176 GRCh37 Chromosome 15, 55522621: 55522621
2 RAB27A RAB27A, INV3DS, A-G, +3 single nucleotide variant Pathogenic
3 RAB27A RAB27A, 550C-T single nucleotide variant Pathogenic
4 RAB27A RAB27A, 67.5-KB DEL deletion Pathogenic
5 RAB27A NM_183235.2(RAB27A): c.389T> C (p.Leu130Pro) single nucleotide variant Pathogenic rs104894498 GRCh37 Chromosome 15, 55516165: 55516165
6 RAB27A NM_183235.2(RAB27A): c.454G> C (p.Ala152Pro) single nucleotide variant Pathogenic rs104894499 GRCh37 Chromosome 15, 55516100: 55516100
7 RAB27A RAB27A, 2-BP DEL, 51CT deletion Pathogenic
8 RAB27A RAB27A, IVS5, G-C, +1 single nucleotide variant Pathogenic
9 RAB27A NM_183235.2(RAB27A): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs104894500 GRCh37 Chromosome 15, 55516202: 55516202
10 RAB27A NM_004580.4(RAB27A): c.514_518delCAAGC (p.Gln172Asnfs) deletion Likely pathogenic rs767481076 GRCh37 Chromosome 15, 55497853: 55497857

Expression for Griscelli Syndrome, Type 2

Search GEO for disease gene expression data for Griscelli Syndrome, Type 2.

Pathways for Griscelli Syndrome, Type 2

Pathways related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.85 CCL5 IL10
2 10.03 RAB27A UNC13D
3 10 MLPH RAB27A UNC13D

GO Terms for Griscelli Syndrome, Type 2

Cellular components related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.43 MYO5A RAB27A UNC13D
2 photoreceptor outer segment GO:0001750 9.32 MYO5A RAB27A
3 exocytic vesicle GO:0070382 9.16 RAB27A UNC13D
4 late endosome GO:0005770 9.13 MYO5A RAB27A UNC13D
5 Weibel-Palade body GO:0033093 8.62 RAB27A UNC13D

Biological processes related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.43 MYO5A RAB27A
2 positive regulation of exocytosis GO:0045921 9.4 RAB27A UNC13D
3 melanosome transport GO:0032402 9.37 MYO5A RAB27A
4 melanocyte differentiation GO:0030318 9.32 MYO5A RAB27A
5 natural killer cell degranulation GO:0043320 9.26 RAB27A UNC13D
6 melanosome localization GO:0032400 9.16 MYO5A RAB27A
7 exocytosis GO:0006887 9.02 CCL5 MYO5A RAB27A UNC13B UNC13D
8 positive regulation of regulated secretory pathway GO:1903307 8.96 RAB27A UNC13D

Molecular functions related to Griscelli Syndrome, Type 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.92 MLPH MYO5A UNC13B UNC13D

Sources for Griscelli Syndrome, Type 2

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
47 NCIt
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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