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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
1 associated gene
6 signs/symptoms
Bernard-Soulier syndrome
Chronic intestinal pseudoobstruction

GP1BA FLNA
GP1BB
GP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GP1BA
(0.73)
FLNA



Citations in the biomedical literature:


Bernard-Soulier syndrome
GP1BA GP1BB GP9
Chronic intestinal pseudoobstruction
FLNA



Bernard-Soulier syndrome
Chronic intestinal pseudoobstruction

Synonym(s):
- Giant platelet syndrome
- Hemorrhagiparous thrombocytic dystrophy

Synonym(s):
- CIPO

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
(no data available)

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D001606
External references:
4 OMIM references -
No MeSH references

Chronic intestinal pseudoobstruction

Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


Bernard-Soulier syndrome

(no data available)