GS3
MCID: GRS012
MIFTS: 40

Griscelli Syndrome, Type 3 (GS3) malady

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

Aliases & Classifications for Griscelli Syndrome, Type 3

Aliases & Descriptions for Griscelli Syndrome, Type 3:

Name: Griscelli Syndrome, Type 3 54 24 13 69
Griscelli Syndrome Type 3 12 50 42 14
Gs3 12 50 24 66
Griscelli-Pruniéras Syndrome Type 3 12 56
Griscelli Syndrome 3 66 29
Hypomelanosis with No Immunologic or Neurologic Manifestations 50
Griscelli Disease Type 3 56

Characteristics:

Orphanet epidemiological data:

56
griscelli disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

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


Classifications:



External Ids:

OMIM 54 609227
Disease Ontology 12 DOID:0060834
ICD10 33 E70.3
MeSH 42 C537303
Orphanet 56 ORPHA79478
MESH via Orphanet 43 C537303
UMLS via Orphanet 70 C1836573
ICD10 via Orphanet 34 E70.3
MedGen 40 C1836573
UMLS 69 C1836573

Summaries for Griscelli Syndrome, Type 3

UniProtKB/Swiss-Prot : 66 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 severe acute respiratory 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 drugs Melphalan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are pigmentation and vision/eye

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

Description from OMIM: 609227

Related Diseases for Griscelli Syndrome, Type 3

Diseases in the Griscelli Syndrome family:

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

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

id Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 11.0
2 severe acute respiratory syndrome 10.1 CD36 KLK3
3 craniosynostosis 3 10.1 MYO5A RAB27A
4 amyotrophic lateral sclerosis-parkinsonism/dementia complex 10.0 MLPH MYO5A RAB27A
5 dentinogenesis imperfecta, shields type ii 10.0 MLPH MYO5A RAB27A
6 griscelli syndrome 10.0
7 esophagus sarcoma 10.0 CD36 KLK3
8 patterned macular dystrophy 9.9 MLPH MYO5A MYRIP RAB27A
9 crigler-najjar syndrome, type i 8.5 AS3MT CD36 GPD2 HELLS IRX1 IRX5

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 by clinical synopsis from OMIM:

609227

Clinical features from OMIM:

609227

Human phenotypes related to Griscelli Syndrome, Type 3:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of hair 56 32 Very frequent (99-80%) HP:0005599
2 iris hypopigmentation 56 32 Occasional (29-5%) HP:0007730
3 partial albinism 56 32 Occasional (29-5%) HP:0007443
4 white eyelashes 32 HP:0002227
5 silver-gray hair 32 HP:0002218
6 large clumps of pigment irregularly distributed along hair shaft 32 HP:0004527

MGI Mouse Phenotypes related to Griscelli Syndrome, Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 HELLS MLPH MYO5A RAB27A
2 vision/eye MP:0005391 9.02 MLPH MYO5A RAB27A CD36 GPD2

Drugs & Therapeutics for Griscelli Syndrome, Type 3

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

(show all 17)
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
Ginseng Approved, Nutraceutical 50647-08-0
9 Alkylating Agents
10 Anti-Infective Agents
11 Immunosuppressive Agents
12 Protective Agents
13 Antimetabolites
14 Antimetabolites, Antineoplastic
15 Antirheumatic Agents
16 Antineoplastic Agents, Alkylating
17 Antiviral Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of GS-3K8 and GINst15 on Acute Respiratory Illness Completed NCT03028077
2 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092

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:

id Genetic test Affiliating Genes
1 Griscelli Syndrome Type 3 29
2 Griscelli Syndrome, Type 3 24 MLPH

Anatomical Context for Griscelli Syndrome, Type 3

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

39
Skin, Eye

Publications for Griscelli Syndrome, Type 3

Articles related to Griscelli Syndrome, Type 3:

id 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:

66
id Symbol AA change Variation ID SNP ID
1 MLPH p.Arg35Trp VAR_018724 rs119473031

ClinVar genetic disease variations for Griscelli Syndrome, Type 3:

6
id 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 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 MYO5A MYRIP RAB27A
2 10 MLPH MYRIP RAB27A

GO Terms for Griscelli Syndrome, Type 3

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

id Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.13 MYO5A MYRIP RAB27A
2 photoreceptor outer segment GO:0001750 8.8 MYO5A MYRIP RAB27A

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

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.26 MYO5A RAB27A
2 melanosome transport GO:0032402 9.16 MYO5A RAB27A
3 melanocyte differentiation GO:0030318 8.96 MYO5A RAB27A
4 melanosome localization GO:0032400 8.62 MYO5A RAB27A

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

id Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.8 MLPH MYO5A MYRIP

Sources for Griscelli Syndrome, Type 3

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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