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Apolipoprotein A-I deficiency

1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Aceruloplasminemia

1 OMIM reference -
1 associated gene
20 signs/symptoms

Apolipoprotein A-I deficiency

Aceruloplasminemia

ABCA1	(UniProt - OMIM)		CP	(UniProt - OMIM)
APOA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APOA1	(0.72)	CP

Citations in the biomedical literature:

Apolipoprotein A-I deficiency		Aceruloplasminemia
	Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia		Synonym(s): - Hereditary ceruloplasmin deficiency

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

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

	External references: 1 OMIM reference - 1 MeSH reference: D052456		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anaemia - Autosomal recessive inheritance

Apolipoprotein A-I deficiency		Aceruloplasminemia
	Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatitis / icterus / cholestasis - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Splenomegaly - Storage liver disease		Very frequent - 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