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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Gray platelet syndrome
Dyssegmental dysplasia, Silverman-Handmaker type

GFI1B HSPG2
NBEAL2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
HSPG2



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2



Gray platelet syndrome
Dyssegmental dysplasia, Silverman-Handmaker type

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

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D055652
External references:
1 OMIM reference -
No MeSH references

Gray platelet syndrome
Dyssegmental dysplasia, Silverman-Handmaker type

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 vertebral size / shape
- Autosomal recessive inheritance
- Blue sclerae
- Bowed diaphysis / diaphyses / long bones
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Inguinal / inguinoscrotal / crural hernia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death
- Umbilical hernia