ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 2

16 OMIM references -
4 associated genes
No signs/symptoms info

Ehlers-Danlos syndrome with periventricular heterotopia

Early-onset autosomal dominant Alzheimer disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA FLNA	(0.89) (0.73)	PSEN1 PSEN2

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

	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 genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 16 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
Early-onset autosomal dominant Alzheimer disease
(no data available)