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Griscelli disease type 2
1 OMIM reference -
1 associated gene
16 connected diseases
21 signs/symptoms
Disease Type of connection
Griscelli disease type 3
Griscelli disease type 1
Neuroectodermal melanolysosomal disease
Familial hemophagocytic lymphohistiocytosis
Acute promyelocytic leukemia
Monomelic amyotrophy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Cone rod dystrophy
Cystic fibrosis
X-linked non-syndromic intellectual deficit
Synonym(s):
- Griscelli-Pruniéras syndrome type 2
- Hypopigmentation - immunodeficiency with or without neurologic impairment
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537302
Gene symbol UniProt reference OMIM reference
RAB27A P51159603868
Very frequent
- Autosomal recessive inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Irregular / patchy skin hypopigmentation
- Premature greying of hair

Frequent
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Lymphadenopathy / polyadenopathies
- Polynuclear cells / neutrophils anomalies / neutropenia

Occasional
- Bone marrow failure / pancytopenia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Fever / chilling
- Hypertonia / spasticity / rigidity / stiffness
- Iris albinism / ocular albinism
- Lung / pulmonary infiltrates
- Meningitis / meningeal syndrome
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly