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
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Summaries for Griscelli Syndrome Type 3

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 609227

Aliases & Classifications for Griscelli Syndrome Type 3

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Sources:
43NIH Rare Diseases, 47OMIM, 62UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
griscelli-pruniéras syndrome type 3:
Inheritance: Autosomal recessive


Aliases & Descriptions:

griscelli syndrome type 3 43
griscelli syndrome, type 3 47 62
hypomelanosis with no immunologic or neurologic manifestations 43
griscelli-pruniéras syndrome type 3 49
griscelli disease type 3 49
gs3 43


External Ids:

OMIM47 609227
MESH via Orphanet36 C537303
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 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
2griscelli syndrome10.1
3piebaldism10.0MYO5A, MLPH

Symptoms for Griscelli Syndrome Type 3

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

609227

Clinical features from OMIM:

609227

Symptoms:

49
  • 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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Griscelli Syndrome Type 3

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Griscelli Syndrome Type 3:

33
Skin, Eye

Animal Models for Griscelli Syndrome Type 3 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Griscelli Syndrome Type 3:

37
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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome Type 3:

64
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, 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
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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet