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Aceruloplasminemia

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hemochromatosis type 4

1 OMIM reference -
1 associated gene
11 signs/symptoms

Aceruloplasminemia

Hemochromatosis type 4

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CP	(0.63)	SLC40A1

Citations in the biomedical literature:

Aceruloplasminemia		Hemochromatosis type 4
	Synonym(s): - Hereditary ceruloplasmin deficiency		Synonym(s): - Autosomal dominant hereditary hemochromatosis - Ferroportin disease - Hemochromatosis due to defect in ferroportin

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

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

	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 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537249


COMMON SIGNS	- Hyperferritinemia / iron overload

Aceruloplasminemia		Hemochromatosis type 4
	Very frequent - Anaemia - Autosomal recessive inheritance - Chorea / athetosis / choreoathetosis / choreic syndrome - Diabetes mellitus - 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		Very frequent - Articular / joint pain / arthralgia - Autosomal dominant inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Hydrarthrosis / articular / joint effusion - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis Frequent - Acute abdominal pain / colic - Liver / hepatic steatosis Occasional - Cirrhosis - Congenital hepatic fibrosis