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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Gray platelet syndrome
Carpenter syndrome

GFI1B MEGF8
NBEAL2 RAB23


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
MEGF8



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Carpenter syndrome
MEGF8 RAB23



Gray platelet syndrome
Carpenter syndrome

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

Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
2 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


Carpenter syndrome

(no data available)