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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
14 signs/symptoms
Gray platelet syndrome
Autosomal dominant cutis laxa

GFI1B ELN
NBEAL2 FBLN5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GFI1B
(0.63)
FBLN5



Citations in the biomedical literature:


Gray platelet syndrome
GFI1B NBEAL2
Autosomal dominant cutis laxa
ELN FBLN5



Gray platelet syndrome
Autosomal dominant cutis laxa

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

Synonym(s):
- ADCL

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Gray platelet syndrome
Autosomal dominant cutis laxa

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
- Autosomal dominant inheritance
- Loose skin / skin relaxation / excess skin / creases

Frequent
- Abnormal fat distribution / lipodystrophy
- Broad cheeks / cherub-like / cherubin face
- Colonic / intestinal / bowel diverticulosis / diverticulitis
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Premature ageing

Occasional
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Emphysema
- Herniae
- Inguinal / inguinoscrotal / crural hernia
- Pulmonary valve atresia / stenosis / narrowing