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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
24 signs/symptoms
Gray platelet syndrome
Seckel syndrome

GFI1B ATR
NBEAL2 ATRIP
CENPJ
CEP152
PCNT
RBBP8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.75)
CENPJ



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8



Gray platelet syndrome
Seckel 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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
6 OMIM references -
1 MeSH reference: C537533

Gray platelet syndrome
Seckel 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


Very frequent
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Beaked nose
- Clinodactyly of fifth finger
- Craniostenosis / craniosynostosis / sutural synostosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Frequent
- Anodontia / oligodontia / hypodontia
- Cone epiphyses / epiphysis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Scoliosis