Griscelli syndrome, type 1

Preferred Label : Griscelli syndrome, type 1;

Symbol : GS1;

CISMeF acronym : GS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Griscelli syndrome, cutaneous and neurologic type; Partial albinism and primary neurologic disease without hemophagocytic syndrome; Griscelli syndrome with neurologic impairment;

Description : Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (607624), is caused by mutation in the RAB27A gene (603868). Griscelli syndrome type 3 (609227), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; 606526) or MYO5A genes. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse. Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and Bahadoran et al. (2003, 2003) suggested that Elejalde syndrome (256710) in some patients and GS1 represent the same entity.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin VA gene (MYO5A, 160777.0002);

Prefixed ID : #214450;

Details

Origin ID

214450;

UMLS CUI

C1859194;

Automatic exact mappings (from CISMeF team)
- MYO5A wt Allele [NCIt concept]
- myosin VA [ORDO Gene]
- myosin VA [HGNC gene]
- pseudouridine 5'-phosphatase [HGNC gene]
Broader ORDO disease(s)
- Griscelli syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome type 1 [ICD-11 More detail]
- Griscelli syndrome type 1 [MeSH concept]
- Griscelli syndrome type 1 [ORDO Disease]
- griscelli syndrome type 1 [MeSH Supplementary Concept]
DO Cross reference
- Griscelli syndrome type 1 [DO Concept]
Genes related to phenotype
- Myosin va [OMIM gene]
HPO term(s)
- Accumulation of melanosomes in melanocytes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Melanin pigment aggregation in hair shafts [HPO term]
- Seizure [HPO term]
- Silver-gray hair [HPO term]
ORDO concept(s)
- Griscelli syndrome [ORDO Disease]
- Griscelli syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome type 1 [MeSH concept]
- Griscelli syndrome type 1 [DO Concept]
- Hypopigmentation-immunodeficiency disease type 1 (disorder) [SNOMED CT concept]
- griscelli syndrome type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]

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