MCID: GRS012
MIFTS: 39

Griscelli Syndrome, Type 3

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

Aliases & Classifications for Griscelli Syndrome, Type 3

MalaCards integrated aliases for Griscelli Syndrome, Type 3:

Name: Griscelli Syndrome, Type 3 57 13 40 73
Griscelli Syndrome Type 3 12 53 29 6 44 15
Gs3 57 12 53 75
Griscelli-Pruniéras Syndrome Type 3 12 59
Hypomelanosis with No Immunologic or Neurologic Manifestations 53
Griscelli Disease Type 3 59
Griscelli Syndrome 3 75

Characteristics:

Orphanet epidemiological data:

59
griscelli disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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:

32
griscelli syndrome, type 3:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 609227
Disease Ontology 12 DOID:0060834
ICD10 33 E70.3
MeSH 44 C537303
Orphanet 59 ORPHA79478
MESH via Orphanet 45 C537303
UMLS via Orphanet 74 C1836573
ICD10 via Orphanet 34 E70.3
MedGen 42 C1836573
UMLS 73 C1836573

Summaries for Griscelli Syndrome, Type 3

UniProtKB/Swiss-Prot : 75 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 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 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.

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 31.4 MYO5A RAB27A
2 griscelli syndrome 28.2 KLK3 MLPH MYO5A MYRIP RAB27A SYTL2
3 prostatic hypertrophy 10.1 CD36 KLK3
4 newcastle disease 10.0 CD36 KLK3
5 piebald trait 10.0 MLPH MYO5A RAB27A
6 griscelli syndrome, type 2 9.6 MLPH MYO5A RAB27A SYTL2

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:

57
Head And Neck Eyes:
silver-gray eyelashes
silver-gray eyebrows

Neurologic:
no neurologic abnormalities

Skin Nails Hair Hair:
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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
2 partial albinism 59 32 occasional (7.5%) Occasional (29-5%) HP:0007443
3 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
4 silver-gray hair 32 HP:0002218
5 white eyelashes 32 HP:0002227
6 large clumps of pigment irregularly distributed along hair shaft 32 HP:0004527

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 MLPH MYO5A RAB27A TRIP13
2 vision/eye MP:0005391 9.1 CD36 GPD2 MLPH MYO5A RAB27A TRIP13

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 Not Applicable 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 Not Applicable
2 GlobalSurg 3: Quality and Outcomes in Global Cancer Surgery Not yet recruiting NCT03471494

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 29 MLPH

Anatomical Context for Griscelli Syndrome, Type 3

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

41
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:

75
# 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 MLPH NM_024101.6(MLPH): c.103C> T (p.Arg35Trp) single nucleotide variant Pathogenic rs119473031 GRCh37 Chromosome 2, 238402172: 238402172
2 MLPH NM_024101.6(MLPH): c.103C> T (p.Arg35Trp) single nucleotide variant Pathogenic rs119473031 GRCh38 Chromosome 2, 237493529: 237493529
3 MYO5A MYO5A, F-EXON DEL deletion Pathogenic

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 secretory granule GO:0030141 9.33 KLK3 MYO5A RAB27A
2 cortical actin cytoskeleton GO:0030864 9.32 MLPH MYRIP
3 exocytic vesicle GO:0070382 9.26 RAB27A SYTL2
4 photoreceptor outer segment GO:0001750 9.13 MYO5A MYRIP RAB27A
5 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 vesicle-mediated transport GO:0016192 9.63 MYO5A RAB27A SYTL2
2 intracellular protein transport GO:0006886 9.56 MLPH MYRIP RAB27A SYTL2
3 exocytosis GO:0006887 9.54 MYO5A RAB27A SYTL2
4 pigmentation GO:0043473 9.43 MYO5A RAB27A
5 melanocyte differentiation GO:0030318 9.4 MYO5A RAB27A
6 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.32 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 actin binding GO:0003779 9.43 MLPH MYO5A MYRIP
2 GDP binding GO:0019003 9.16 RAB27A SUCLG2
3 myosin binding GO:0017022 8.96 MLPH MYRIP
4 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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