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
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ICD-10: |
E70.3 |
UMLs: |
C1868679 |
MeSH: |
C537302 |
MedDRA: |
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Snomed: |
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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:
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(HPO:0001107) | Ocular albinism | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
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(HPO:0001287) | Meningitis | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002344) | Progressive neurologic deterioration | Occasional [HPO:probinson] | 27 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
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(HPO:0001396) | Cholestasis | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0002218) | Silver-gray hair | 6 / 7739 | ||||
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(HPO:0010783) | Erythema | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0001008) | Accumulation of melanosomes in melanocytes | 4 / 7739 | ||||
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(HPO:0005599) | Hypopigmentation of hair | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002216) | Premature graying of hair | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0002220) | Melanin pigment aggregation in hair shafts | 4 / 7739 | ||||
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(HPO:0001010) | Hypopigmentation of the skin | 46 / 7739 | ||||
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(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0001874) | Abnormality of neutrophils | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0002972) | Reduced delayed hypersensitivity | 7 / 7739 | ||||
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(HPO:0001876) | Pancytopenia | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0003119) | Abnormality of lipid metabolism | Frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0002113) | Pulmonary infiltrates | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0002718) | Recurrent bacterial infections | 75 / 7739 | ||||
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(OMIM) | Humoral deficiency (likely result of T-cell abnormalities) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Variable neurologic deterioration (likely result of hemophagocytic syndrome) | 1 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Lymphohistiocytic infiltration and hemophagocytosis in multiple organs | 1 / 7739 | ||||
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(HPO:0001317) | Abnormality of the cerebellum | 36 / 7739 | ||||
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(HPO:0003819) | Death in childhood | 42 / 7739 | ||||
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(OMIM) | Hemophagocytic syndrome (HS) characterized by acute onset of uncontrolled T-lymphocyte and macrophage activation | 1 / 7739 | ||||
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(OMIM) | T-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |