GS3
MCID: GRS009
MIFTS: 32

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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Wikipedia:64 Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with... more...

MalaCards based summary: Griscelli Syndrome Type 3, also known as griscelli syndrome, type 3, is related to griscelli syndrome and griscelli syndrome type 1, and has symptoms including hypopigmentation of hair, generalized hypopigmentation and 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:46 609227

Aliases & Classifications for Griscelli Syndrome Type 3

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Sources:
42NIH Rare Diseases, 46OMIM, 61UMLS, 48Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Griscelli Syndrome Type 3, Aliases & Descriptions:

Name: Griscelli Syndrome Type 3 42
Griscelli Syndrome, Type 3 46 61
Hypomelanosis with No Immunologic or Neurologic Manifestations 42
 
Griscelli-Pruniéras Syndrome Type 3 48
Griscelli Disease Type 3 48
Gs3 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 609227
MESH via Orphanet35 C537303
ICD10 via Orphanet27 E70.3
UMLS via Orphanet62 C1836573

Related Diseases for Griscelli Syndrome Type 3

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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 syndrome10.3
2griscelli syndrome type 110.3
3piebaldism9.9MYO5A, MLPH

Symptoms for Griscelli Syndrome Type 3

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Symptoms by clinical synopsis from OMIM:

609227

Clinical features from OMIM:

609227

Symptoms:

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

HPO human phenotypes related to Griscelli Syndrome Type 3:

(show all 8)
id Description Frequency HPO Source Accession
1 hypopigmentation of hair hallmark (90%) HP:0005599
2 generalized hypopigmentation hallmark (90%) HP:0007513
3 ocular albinism occasional (7.5%) HP:0001107
4 autosomal recessive inheritance HP:0000007
5 heterogeneous HP:0001425
6 silver-gray hair HP:0002218
7 white eyelashes HP:0002227
8 large clumps of pigment irregularly distributed along hair shaft HP:0004527

Drugs & Therapeutics for Griscelli Syndrome Type 3

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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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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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MGI Mouse Phenotypes related to Griscelli Syndrome Type 3:

36
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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Articles related to Griscelli Syndrome Type 3:

idTitleAuthorsYear
1
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3. (25046460)
2014

Variations for Griscelli Syndrome Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Griscelli Syndrome Type 3:

63
id Symbol AA change Variation ID SNP ID
1MLPHp.Arg35TrpVAR_018724

Clinvar genetic disease variations for Griscelli Syndrome Type 3:

7
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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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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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
  • Proteins
  • Kits and Assays

Sources for Griscelli Syndrome Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet