Griscelli syndrome, type 2

Preferred Label : Griscelli syndrome, type 2;

Symbol : GS2;

CISMeF acronym : GS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Griscelli syndrome with hemophagocytic syndrome; Paid syndrome; Partial albinism and immunodeficiency syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the Ras-associated protein RAB27A gene (RAB27A, 603868.0001);

Prefixed ID : #607624;

Details

Origin ID

607624;

UMLS CUI

C1868679;

Automatic exact mappings (from CISMeF team)
- RAB27A wt Allele [NCIt concept]
- RAB27A, member RAS oncogene family [ORDO Gene]
- RAB27A, member RAS oncogene family [HGNC gene]
- patatin like phospholipase domain containing 4 [HGNC gene]
Broader ORDO disease(s)
- Griscelli syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [ORDO Disease]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
DO Cross reference
- Griscelli syndrome type 2 [DO Concept]
Genes related to phenotype
- Ras-associated protein rab27a [OMIM gene]
HPO term(s)
- Accumulation of melanosomes in melanocytes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Fever [HPO term]
- Frequent pyogenic infections [HPO term]
- Hemophagocytosis [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypopigmentation of the skin [HPO term]
- Infantile onset [HPO term]
- Melanin pigment aggregation in hair shafts [HPO term]
- Progressive neurologic deterioration [HPO term]
- Recurrent bacterial infections [HPO term]
- Reduced delayed hypersensitivity [HPO term]
- Seizure [HPO term]
- Silver-gray hair [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Griscelli syndrome [ORDO Disease]
- Griscelli syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]

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