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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Gray platelet syndrome
Amyotrophic lateral sclerosis

GFI1B ANG
NBEAL2 ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
ATXN2



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Gray platelet syndrome
Amyotrophic lateral sclerosis

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

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

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

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

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
16 OMIM references -
1 MeSH reference: D000690

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


Amyotrophic lateral sclerosis

(no data available)