Details of Disease

General Information of Disease (ID: DIS8VA00)

Disease Name Griscelli syndrome type 1
Synonyms
Griscelli syndrome, type 1; partial albinism and primary neurologic disease without hemophagocytic syndrome; Griscelli syndrome with neurologic impairment; Griscelli syndrome, cutaneous and neurologic type; Griscelli disease type 1; pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts; Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-Pruniras syndrome type 1; Griscelli syndrome type 1; hypopigmentation-neurologic impairment syndrome; GS1; Griscelli-PruniC)ras syndrome type 1
Definition
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DISTHCOQ: Griscelli syndrome
DISD715V: Hereditary neurological disease
DIS8VA00: Griscelli syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0008962
MESH ID
C537301
UMLS CUI
C1859194
OMIM ID
214450
MedGen ID
347092
Orphanet ID
79476
SNOMED CT ID
1254946006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYO5A OTMWLP3E Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.