Griscelli disease type 2

General Information (adopted from Orphanet):

Synonyms, Signs: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME
PAID SYNDROME
GS2
Griscelli-PruniƩras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment
Number of Symptoms 37
OrphanetNr: 79477
OMIM Id: 607624
ICD-10: E70.3
UMLs: C1868679
MeSH: C537302
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional neutropenia with extra-haematopoietic manifestations
 -Rare genetic disease
 -Rare immune disease
Genetic immune deficiency with skin involvement
 -Rare genetic disease
Griscelli disease
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
Immune deficiency with skin involvement
 -Rare skin disease
Immunodeficiency syndrome with hypopigmentation
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0001107) Ocular albinism Occasional [Orphanet] 40 / 7739
2
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
3
(HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
4
(HPO:0001257) Spasticity 251 / 7739
5
(HPO:0002344) Progressive neurologic deterioration Occasional [HPO:probinson] 27 / 7739
6
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
(HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
8
(HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
9
(HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
10
(HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
11
(HPO:0002218) Silver-gray hair 6 / 7739
12
(HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
13
(HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
14
(HPO:0001008) Accumulation of melanosomes in melanocytes 4 / 7739
15
(HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
16
(HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
17
(HPO:0002220) Melanin pigment aggregation in hair shafts 4 / 7739
18
(HPO:0001010) Hypopigmentation of the skin 46 / 7739
19
(HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
20
(HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
21
(HPO:0002972) Reduced delayed hypersensitivity 7 / 7739
22
(HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
23
(HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
24
(HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
25
(HPO:0002113) Pulmonary infiltrates Occasional [Orphanet] 36 / 7739
26
(HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
27
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
28
(HPO:0002718) Recurrent bacterial infections 75 / 7739
29
(OMIM) Humoral deficiency (likely result of T-cell abnormalities) 1 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(OMIM) Variable neurologic deterioration (likely result of hemophagocytic syndrome) 1 / 7739
32
(HPO:0003593) Infantile onset 249 / 7739
33
(OMIM) Lymphohistiocytic infiltration and hemophagocytosis in multiple organs 1 / 7739
34
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
35
(HPO:0003819) Death in childhood 42 / 7739
36
(OMIM) Hemophagocytic syndrome (HS) characterized by acute onset of uncontrolled T-lymphocyte and macrophage activation 1 / 7739
37
(OMIM) T-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Durandy et al. (1993) successfully undertook the prenatal diagnosis of 2 hereditary syndromes associating albinism and immune defects: Chediak-Higashi syndrome and Griscelli syndrome. Because the genes responsible for these diseases had not yet been mapped and the immune ...
Clinical Description OMIM Griscelli et al. (1978) described 2 unrelated patients with a disorder resembling the Chediak-Higashi syndrome (CHS; 214500). Features were partial albinism, frequent pyogenic infections, and acute episodes of fever, neutropenia, and thrombocytopenia. The pigmentary dilution was characterized by ...
Molecular genetics OMIM Menasche et al. (2000) demonstrated that the non-MYO5A locus defined by Pastural et al. (2000) in the 15q21 region is that for RAB27A (603868) and detected causative mutations in that gene.

Anikster et al. (2002) performed ...