GS3
MCID: GRS009
MIFTS: 30

Griscelli Syndrome Type 3 (GS3) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Neuronal diseases, Immune diseases, Blood diseases categories

Summaries for Griscelli Syndrome Type 3

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with... more...

MalaCards: 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 diffuse/generalised skin hypopigmentation/cutaneous albinism, decreased hair pigmentation/hypopigmentation of hair and iris albinism/ocular albinism. An important gene associated with Griscelli Syndrome Type 3 is MLPH (melanophilin). Affiliated tissues include skin and eye, and related mouse phenotypes are pigmentation and immune system.

Description from OMIM:48 609227

Aliases & Classifications for Griscelli Syndrome Type 3

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Sources:
44NIH Rare Diseases, 48OMIM, 63UMLS, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
griscelli-pruniƩras syndrome type 3:
Inheritance: Autosomal recessive


Aliases & Descriptions:

griscelli syndrome type 3 44
griscelli syndrome, type 3 48 63
hypomelanosis with no immunologic or neurologic manifestations 44
griscelli-pruniƩras syndrome type 3 50
griscelli disease type 3 50
gs3 44


External Ids:

OMIM48 609227
MESH via Orphanet37 C537303
ICD10 via Orphanet27 E70.3
UMLS via Orphanet64 C1836573

Related Diseases for Griscelli Syndrome Type 3

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Griscelli Syndrome Type 2 family:

Griscelli Syndrome Griscelli Syndrome Type 1
griscelli syndrome type 3

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

idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome type 110.2
2griscelli syndrome10.1
3piebaldism10.0MYO5A, MLPH

Symptoms for Griscelli Syndrome Type 3

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

609227

Clinical features from OMIM:

609227

Symptoms:

50
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • iris albinism/ocular albinism

Drugs & Therapeutics for Griscelli Syndrome Type 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Griscelli Syndrome Type 3

Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome Type 3

Search NIH Clinical Center for Griscelli Syndrome Type 3

Search CenterWatch for Griscelli Syndrome Type 3

Genetic Tests for Griscelli Syndrome Type 3

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Anatomical Context for Griscelli Syndrome Type 3

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34MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome Type 3:

34
Skin, Eye

Animal Models for Griscelli Syndrome Type 3 or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome Type 3:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1MYO5A, MLPH
2MP:00053879.1MYO5A, MLPH
3MP:00053919.0MYO5A, MLPH
4MP:00107718.8MYO5A, MLPH

Publications for Griscelli Syndrome Type 3

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Variations for Griscelli Syndrome Type 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome Type 3:

65
id Symbol AA change Variation ID SNP ID
1MLPHp.Arg35TrpVAR_018724

Clinvar genetic disease variations for Griscelli Syndrome Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYO5AMYO5A, F-EXON DELdeletionPathogenic
2MLPHNM_024101.6(MLPH): c.103C> T (p.Arg35Trp)single nucleotide variantPathogenicrs119473031GRCh37Chr 2, 238402172: 238402172

Expression for genes affiliated with Griscelli Syndrome Type 3

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Griscelli Syndrome Type 3

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

Pathways for genes affiliated with Griscelli Syndrome Type 3

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Compounds for genes affiliated with Griscelli Syndrome Type 3

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GO Terms for genes affiliated with Griscelli Syndrome Type 3

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Sources:
17Gene Ontology
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Cellular components related to Griscelli Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule plus-endGO:0353719.1MYO5A, MLPH

Biological processes related to Griscelli Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:0303189.1MYO5A, MLPH

Molecular functions related to Griscelli Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037799.1MYO5A, MLPH
2Rab GTPase bindingGO:0171378.8MYO5A, MLPH

Products for genes affiliated with Griscelli Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Griscelli Syndrome Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet