ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Ehlers-Danlos syndrome with periventricular heterotopia

Neonatal severe primary hyperparathyroidism


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.89)	CASR

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		Neonatal severe primary hyperparathyroidism
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - NSHPT

	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 bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Ehlers-Danlos syndrome with periventricular heterotopia		Neonatal severe primary hyperparathyroidism
	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		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperparathyroidy - Hypotonia - Metaphyseal anomaly - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Phosphocalcic metabolism anomalies - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Short stature / dwarfism / nanism - Splenomegaly