MCID: GRS012
MIFTS: 28

Griscelli Syndrome, Type 3 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:63 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-pruniéras syndrome type 3, is related to griscelli syndrome, type 1 and griscelli syndrome, 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:45 609227

Aliases & Classifications for Griscelli Syndrome, Type 3

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Griscelli Syndrome, Type 3, Aliases & Descriptions:

Name: Griscelli Syndrome, Type 3 45 10 60
Griscelli-Pruniéras Syndrome Type 3 41 47
Griscelli Disease Type 3 41 47
 
Hypomelanosis with No Immunologic or Neurologic Manifestations 41
Griscelli Syndrome Type 3 41
Gs3 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
griscelli-pruniéras syndrome type 3:
Inheritance: Autosomal recessive


External Ids:

OMIM45 609227
Orphanet47 79478
MESH via Orphanet34 C537303
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C1836573

Related Diseases for Griscelli Syndrome, Type 3

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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:

idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome, type 110.3
2griscelli syndrome10.3
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:

 47
  • 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:

31
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:

35
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:

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

Clinvar genetic disease variations for Griscelli Syndrome, Type 3:

6
id Gene Variation 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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule plus-endGO:00353719.1MYO5A, MLPH

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

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:00303189.1MYO5A, MLPH

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.1MYO5A, MLPH
2Rab GTPase bindingGO:00171378.8MYO5A, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet