ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
1 associated gene
11 signs/symptoms

Aceruloplasminemia

Hereditary thrombophilia due to congenital protein C deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CP	(0.52)	PROC

Citations in the biomedical literature:

Aceruloplasminemia		Hereditary thrombophilia due to congenital protein C deficiency
	Synonym(s): - Hereditary ceruloplasmin deficiency		Synonym(s): - Hereditary thrombophilia due to PC deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare genetic disease - Rare hematologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance

Aceruloplasminemia		Hereditary thrombophilia due to congenital protein C deficiency
	Very frequent - Anaemia - Chorea / athetosis / choreoathetosis / choreic syndrome - Diabetes mellitus - Hyperferritinemia / iron overload - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Retinopathy - Tremor Frequent - Ataxia / incoordination / trouble of the equilibrium - Dystonia / torticollis / writer's cramp / blepharospasms - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Elocution disorders / dysarthria / dysphonia - Heart / cardiac failure - Hypothyroidy - Troubles of memory / amnesia / hypermnesia		Frequent - Purpura / petichiae - Skin hypoplasia / aplasia / atrophy - Thin skin - Venous thrombosis / phlebitis / thrombophlebitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Cerebral vascular anomalies - Chronic skin infection / ulcerations / ulcers / cancrum - Gangrena / necrosis - Pulmonary thromboembolism - Varices / varicous veins / venous insufficiency