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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
13 associated genes
No signs/symptoms info
Gray platelet syndrome
Hereditary breast and ovarian cancer syndrome

GFI1B BARD1
NBEAL2 BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
BRCA1



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



Gray platelet syndrome
Hereditary breast and ovarian cancer syndrome

Synonym(s):
- Alpha storage pool deficiency
- GPS
- Platelet alpha-granule deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
4 OMIM references -
No MeSH references

Gray platelet syndrome

Very frequent
- Bruisability
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Thrombocytopenia / thrombopenia

Frequent
- Bladder / vesical lesions / glomerulations / petechiae
- Epistaxis / nose bleeding
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myelodysplastic syndrome
- Splenomegaly

Occasional
- Early death in adulthood


Hereditary breast and ovarian cancer syndrome

(no data available)