GS3
MCID: GRS012
MIFTS: 36

Griscelli Syndrome, Type 3 (GS3)

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

Aliases & Classifications for Griscelli Syndrome, Type 3

MalaCards integrated aliases for Griscelli Syndrome, Type 3:

Name: Griscelli Syndrome, Type 3 57 13 39 70
Griscelli Syndrome Type 3 12 20 58 29 6 44 15
Gs3 57 12 20 72
Griscelli-Prunieras Syndrome Type 3 12 58
Hypomelanosis with No Immunologic or Neurologic Manifestations 20
Griscelli Syndrome 3 72

Characteristics:

Orphanet epidemiological data:

58
griscelli syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
see also griscelli syndrome, type 1 for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome.


HPO:

31
griscelli syndrome, type 3:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060834
OMIM® 57 609227
OMIM Phenotypic Series 57 PS214450
MeSH 44 C537303
MESH via Orphanet 45 C537303
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C1836573
Orphanet 58 ORPHA79478
MedGen 41 C1836573
UMLS 70 C1836573

Summaries for Griscelli Syndrome, Type 3

UniProtKB/Swiss-Prot : 72 Griscelli syndrome 3: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.

MalaCards based summary : Griscelli Syndrome, Type 3, also known as griscelli syndrome type 3, is related to griscelli syndrome, type 1 and griscelli syndrome. An important gene associated with Griscelli Syndrome, Type 3 is MLPH (Melanophilin), and among its related pathways/superpathways is Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include eye, and related phenotypes are hypopigmentation of hair and partial albinism

Disease Ontology : 12 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.

Wikipedia : 73 Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with... more...

More information from OMIM: 609227 PS214450

Related Diseases for Griscelli Syndrome, Type 3

Diseases in the Griscelli Syndrome family:

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

Diseases related to Griscelli Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 31.9 SYTL3 SYTL2 RAB27A MYO5A MLPH
2 griscelli syndrome 31.5 SYTL3 SYTL2 SUCLG2 RAB27A PTPRJ MYO5A
3 autosomal recessive disease 10.2
4 albinism 10.2
5 interstitial keratitis 10.2 PTPRJ CD36
6 piebald trait 10.1 SYTL2 RAB27A MYO5A MLPH
7 dowling-degos disease 1 10.1
8 hemophagocytic lymphohistiocytosis 10.1
9 hypoplastic left heart syndrome 10.1
10 thrombasthenia 10.0 HPSE CD36
11 griscelli syndrome, type 2 10.0 SYTL3 SYTL2 RAB27A MYO5A MLPH
12 chediak-higashi syndrome 9.9

Graphical network of the top 20 diseases related to Griscelli Syndrome, Type 3:



Diseases related to Griscelli Syndrome, Type 3

Symptoms & Phenotypes for Griscelli Syndrome, Type 3

Human phenotypes related to Griscelli Syndrome, Type 3:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
2 partial albinism 58 31 occasional (7.5%) Occasional (29-5%) HP:0007443
3 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
4 white eyelashes 31 HP:0002227
5 silver-gray hair 31 HP:0002218
6 large clumps of pigment irregularly distributed along hair shaft 31 HP:0004527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
silver-gray hair
silver-gray eyelashes
silver-gray eyebrows
large clumps of pigment irregularly distributed along hair shaft (light microscopy)

Head And Neck Eyes:
silver-gray eyelashes
silver-gray eyebrows

Immunology:
no immunologic abnormalities

Neurologic:
no neurologic abnormalities

Clinical features from OMIM®:

609227 (Updated 05-Apr-2021)

Drugs & Therapeutics for Griscelli Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Griscelli Syndrome, Type 3

Cochrane evidence based reviews: griscelli syndrome type 3

Genetic Tests for Griscelli Syndrome, Type 3

Genetic tests related to Griscelli Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Griscelli Syndrome Type 3 29 MLPH

Anatomical Context for Griscelli Syndrome, Type 3

MalaCards organs/tissues related to Griscelli Syndrome, Type 3:

40
Eye

Publications for Griscelli Syndrome, Type 3

Articles related to Griscelli Syndrome, Type 3:

(show all 13)
# Title Authors PMID Year
1
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). 6 57
12897212 2003
2
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 57 6
12148598 2002
3
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 61
33563058 2021
4
Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family. 61
32864751 2020
5
Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity. 61
33235850 2020
6
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. 61
31721180 2020
7
Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. 61
30129079 2018
8
[Griscelli syndrome type 3: A new case]. 61
30389201 2018
9
Griscelli syndrome type-3. 61
27990386 2016
10
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. 61
26337734 2015
11
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. 61
25283056 2014
12
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. 61
25046460 2014
13
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds. 61
24320228 2014

Variations for Griscelli Syndrome, Type 3

ClinVar genetic disease variations for Griscelli Syndrome, Type 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MLPH NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) SNV Pathogenic 4268 rs119473031 GRCh37: 2:238402172-238402172
GRCh38: 2:237493529-237493529
2 MYO5A MYO5A, F-EXON DEL Deletion Pathogenic 14071 GRCh37:
GRCh38:
3 MLPH NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) SNV Pathogenic 636328 rs140470472 GRCh37: 2:238402139-238402139
GRCh38: 2:237493496-237493496
4 MLPH NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) SNV Pathogenic 191157 rs786205551 GRCh37: 2:238402173-238402173
GRCh38: 2:237493530-237493530

UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome, Type 3:

72
# Symbol AA change Variation ID SNP ID
1 MLPH p.Arg35Trp VAR_018724 rs119473031

Expression for Griscelli Syndrome, Type 3

Search GEO for disease gene expression data for Griscelli Syndrome, Type 3.

Pathways for Griscelli Syndrome, Type 3

Pathways related to Griscelli Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 SYTL3 SYTL2 RAB27A MLPH

GO Terms for Griscelli Syndrome, Type 3

Cellular components related to Griscelli Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.65 RAB27A NGFR GNPNAT1 EHD4 EHD1
2 extrinsic component of plasma membrane GO:0019897 9.16 SYTL3 SYTL2
3 melanosome GO:0042470 9.13 SYTL2 RAB27A MYO5A
4 exocytic vesicle GO:0070382 8.8 SYTL3 SYTL2 RAB27A

Biological processes related to Griscelli Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 9.63 MYO5A EHD4 EHD1
2 exocytosis GO:0006887 9.58 SYTL3 SYTL2 RAB27A
3 low-density lipoprotein particle clearance GO:0034383 9.43 EHD1 CD36
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.43 PTPRJ EHD4 CD36
5 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.37 RAB27A CD36
6 intracellular protein transport GO:0006886 9.35 SYTL3 SYTL2 NGFR MLPH EHD1
7 positive regulation of blood coagulation GO:0030194 9.32 HPSE CD36
8 positive regulation of cholesterol storage GO:0010886 9.16 EHD1 CD36
9 melanosome transport GO:0032402 8.8 RAB27A MYO5A MLPH

Molecular functions related to Griscelli Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.56 SUCLG2 RAB27A EHD4 EHD1
2 small GTPase binding GO:0031267 9.46 NGFR MYO5A MLPH EHD1
3 neurexin family protein binding GO:0042043 8.96 SYTL3 SYTL2
4 Rab GTPase binding GO:0017137 8.8 SYTL3 SYTL2 MLPH

Sources for Griscelli Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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