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1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 2
6 associated genes
No signs/symptoms info
Ehlers-Danlos syndrome with periventricular heterotopia
Fetal and neonatal alloimmune thrombocytopenia

FLNA CD109
GP1BA
GP1BB
ITGA2
ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
FLNA
(0.73)
(0.63)
GP1BA
ITGB3



Citations in the biomedical literature:


Ehlers-Danlos syndrome with periventricular heterotopia
FLNA
Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3



Ehlers-Danlos syndrome with periventricular heterotopia
Fetal and neonatal alloimmune thrombocytopenia

Synonym(s):
- EDS with periventricular heterotopia

Synonym(s):
- NAIT

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked dominant
Epidemiological data:
(no data available)

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

Ehlers-Danlos syndrome with periventricular heterotopia

Very frequent
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Scoliosis
- X-linked dominant inheritance

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patent ductus arteriosus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomalies of the nervous system
- Thin skin

Occasional
- Aortic root dilatation / dilation / aneurysm
- Patella dislocation
- Shoulder dislocation


Fetal and neonatal alloimmune thrombocytopenia

(no data available)