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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
48 OMIM references -
31 associated genes
No signs/symptoms info
Gray platelet syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

GFI1B ACTG1
NBEAL2 CCDC50
CEACAM16
COCH
COL11A2
CRYM
DFNA5
DIABLO
DIAPH1
DIAPH3
EYA4
GJB2
GJB3
GJB6
GRHL2
KCNQ4
MIR96
MYH14
MYH9
MYO1A
MYO6
MYO7A
P2RX2
POU4F3
SIX1
SLC17A8
TECTA
TJP2
TMC1
TNC
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
MYH14



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
ACTG1 CCDC50 CEACAM16 COCH COL11A2 CRYM
DFNA5 DIABLO DIAPH1 DIAPH3 EYA4 GJB2
GJB3 GJB6 GRHL2 KCNQ4 MIR96 MYH14
MYH9 MYO1A MYO6 MYO7A P2RX2 POU4F3
SIX1 SLC17A8 TECTA TJP2 TMC1 TNC
WFS1



Gray platelet syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

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

Synonym(s):
- Autosomal dominant isolated neurosensory deafness type DFNA
- Autosomal dominant isolated neurosensory hearing loss type DFNA
- Autosomal dominant isolated sensorineural deafness type DFNA
- Autosomal dominant isolated sensorineural hearing loss type DFNA
- Autosomal dominant nonsyndromic neurosensory deafness type DFNA
- Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
- Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

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

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
48 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


Autosomal dominant nonsyndromic sensorineural deafness type DFNA

(no data available)