GS3
MCID: GRS009
MIFTS: 30

Griscelli Syndrome Type 3 (GS3) malady

Eye diseases, Skin diseases, Neuronal diseases, Immune diseases categories

Summaries for Griscelli Syndrome Type 3

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 piebaldism, and has symptoms including decreased hair pigmentation/hypopigmentation of hair, diffuse/generalised skin hypopigmentation/cutaneous albinism 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 integument and pigmentation.

Description from OMIM:46 609227

Aliases & Classifications for Griscelli Syndrome Type 3

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Sources:
42NIH Rare Diseases, 46OMIM, 60UMLS, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
griscelli-pruniéras syndrome type 3:
Inheritance: Autosomal recessive


Aliases & Descriptions:

griscelli syndrome type 3 42
griscelli syndrome, type 3 46 60
hypomelanosis with no immunologic or neurologic manifestations 42
griscelli-pruniéras syndrome type 3 48
griscelli disease type 3 48
gs3 42


External Ids:

OMIM46 609227
MESH via Orphanet35 C537303
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C1836573

Related Diseases for Griscelli Syndrome Type 3

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Sources:
17GeneCards, 18GeneDecks
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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
2piebaldism10.0MYO5A, MLPH

Clinical Features for Griscelli Syndrome Type 3

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

609227

Clinical synopsis from OMIM:

609227

Symptoms:

48
  • decreased hair pigmentation/hypopigmentation of hair
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • iris albinism/ocular albinism

Drugs & Therapeutics for Griscelli Syndrome Type 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome Type 3:

32
Skin, Eye

Animal Models for Griscelli Syndrome Type 3 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome Type 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1MYO5A, MLPH
2MP:00011869.0MYO5A, MLPH
3MP:00053918.8MYO5A, MLPH

Publications for Griscelli Syndrome Type 3

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Genetic Variations for Griscelli Syndrome Type 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Griscelli Syndrome Type 3:

62
id Symbol AA change Variation ID SNP ID
1MLPHp.Arg35TrpVAR_018724

Expression for genes affiliated with Griscelli Syndrome Type 3

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Sources:
1BioGPS, 15Gene 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:
16Gene Ontology
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Cellular components related to Griscelli Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:0424709.1MYO5A, MLPH
2microtubule plus endGO:0353718.8MYO5A, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet