MCID: GRS012
MIFTS: 38

Griscelli Syndrome, Type 3

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

Aliases & Classifications for Griscelli Syndrome, Type 3

MalaCards integrated aliases for Griscelli Syndrome, Type 3:

Name: Griscelli Syndrome, Type 3 53 13 69
Griscelli Syndrome Type 3 12 49 28 41 14
Gs3 53 12 49 71
Griscelli-Pruniéras Syndrome Type 3 12 55
Hypomelanosis with No Immunologic or Neurologic Manifestations 49
Griscelli Disease Type 3 55
Griscelli Syndrome 3 71

Characteristics:

Orphanet epidemiological data:

55
griscelli disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
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:



External Ids:

OMIM 53 609227
Disease Ontology 12 DOID:0060834
ICD10 32 E70.3
MeSH 41 C537303
Orphanet 55 ORPHA79478
MESH via Orphanet 42 C537303
UMLS via Orphanet 70 C1836573
ICD10 via Orphanet 33 E70.3
MedGen 39 C1836573
UMLS 69 C1836573

Summaries for Griscelli Syndrome, Type 3

UniProtKB/Swiss-Prot : 71 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, and has symptoms including hypopigmentation of hair, iris hypopigmentation and partial albinism. An important gene associated with Griscelli Syndrome, Type 3 is MLPH (Melanophilin), and among its related pathways/superpathways are Peptide hormone metabolism and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The drug Ginseng has been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotype is pigmentation.

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.

Description from OMIM: 609227

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:

# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 31.5 MYO5A RAB27A
2 griscelli syndrome 29.3 MLPH MYO5A MYRIP RAB27A SYTL2
3 prostatic hypertrophy 10.1 CD36 KLK3
4 griscelli syndrome, type 2 10.0 MLPH MYO5A RAB27A
5 newcastle disease 10.0 CD36 KLK3
6 piebald trait 10.0 MLPH MYO5A RAB27A

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

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
silver-gray eyelashes
silver-gray eyebrows

Neurologic:
no neurologic abnormalities

SkinNailsHairHair:
silver-gray hair
silver-gray eyelashes
silver-gray eyebrows
large clumps of pigment irregularly distributed along hair shaft (light microscopy)

Immunology:
no immunologic abnormalities


Clinical features from OMIM:

609227

Human phenotypes related to Griscelli Syndrome, Type 3:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0005599
2 iris hypopigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007730
3 partial albinism 55 31 occasional (7.5%) Occasional (29-5%) HP:0007443
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

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 3:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 HELLS MLPH MYO5A RAB27A

Drugs & Therapeutics for Griscelli Syndrome, Type 3

Drugs for Griscelli Syndrome, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Investigational, Nutraceutical 50647-08-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of GS-3K8 and GINst15 on Acute Respiratory Illness Completed NCT03028077

Search 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 28 MLPH

Anatomical Context for Griscelli Syndrome, Type 3

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

38
Skin, Eye

Publications for Griscelli Syndrome, Type 3

Articles related to Griscelli Syndrome, Type 3:

# Title Authors Year
1
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature. ( 26337734 )
2015
2
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. ( 25046460 )
2014

Variations for Griscelli Syndrome, Type 3

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

71
# Symbol AA change Variation ID SNP ID
1 MLPH p.Arg35Trp VAR_018724 rs119473031

ClinVar genetic disease variations for Griscelli Syndrome, Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO5A MYO5A, F-EXON DEL deletion Pathogenic
2 MLPH NM_024101.6(MLPH): c.103C> T (p.Arg35Trp) single nucleotide variant Pathogenic rs119473031 GRCh37 Chromosome 2, 238402172: 238402172

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
Show member pathways
11.39 MYO5A MYRIP RAB27A
2 10.13 MLPH MYRIP RAB27A SYTL2

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 cortical actin cytoskeleton GO:0030864 9.26 MLPH MYRIP
2 exocytic vesicle GO:0070382 9.16 RAB27A SYTL2
3 photoreceptor outer segment GO:0001750 9.13 MYO5A MYRIP RAB27A
4 melanosome GO:0042470 8.92 MYO5A MYRIP RAB27A SYTL2

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

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.63 MLPH MYRIP SYTL2
2 vesicle-mediated transport GO:0016192 9.61 MYO5A RAB27A SYTL2
3 exocytosis GO:0006887 9.5 MYO5A RAB27A SYTL2
4 pigmentation GO:0043473 9.4 MYO5A RAB27A
5 melanocyte differentiation GO:0030318 9.37 MYO5A RAB27A
6 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.26 CD36 RAB27A
7 melanosome localization GO:0032400 9.16 MYO5A RAB27A
8 melanosome transport GO:0032402 9.13 MLPH MYO5A RAB27A
9 vesicle transport along actin filament GO:0030050 8.8 MLPH MYO5A MYRIP

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 8.96 MLPH MYRIP
2 Rab GTPase binding GO:0017137 8.92 MLPH MYO5A MYRIP SYTL2

Sources for Griscelli Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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