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Gray platelet syndrome
2 OMIM references -
2 associated genes
36 connected diseases
10 signs/symptoms
Disease Type of connection
Autosomal recessive cutis laxa type 1
Autosomal recessive primary microcephaly
Seckel syndrome
Amyotrophic lateral sclerosis
Autosomal dominant cutis laxa
Autosomal dominant macrothrombocytopenia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Behavioral variant of frontotemporal dementia
CLN11 disease
Carpenter syndrome
Cobblestone lissencephaly without muscular or ocular involvement
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Distal myopathy with vocal cord weakness
Duchenne muscular dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Familial drusen
Familial pancreatic carcinoma
Familial prostate cancer
Giant cell glioblastoma
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary site-specific ovarian cancer syndrome
Left ventricular noncompaction
Lethal arteriopathy syndrome due to FBLN4 deficiency
Papillary or follicular thyroid carcinoma
Postsynaptic congenital myasthenic syndromes
Primary peritoneal carcinoma
Progressive non-fluent aphasia
Schwartz-Jampel syndrome
Semantic dementia
Spinocerebellar ataxia type 2
Synpolydactyly type 2
X-linked dystonia-parkinsonism
X-linked non-syndromic intellectual deficit
- Alpha storage pool deficiency
- Platelet alpha-granule deficiency

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

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

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

Gene symbol UniProt reference OMIM reference
GFI1B Q5VTD9604383
NBEAL2 Q6ZNJ1614169
Very frequent
- Bruisability
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Thrombocytopenia / thrombopenia

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

- Early death in adulthood