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Aceruloplasminemia
1 OMIM reference -
1 associated gene
20 signs/symptoms
PROTEIN INTERACTIONS: 1
Myeloperoxidase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Aceruloplasminemia
Myeloperoxidase deficiency

CP
(UniProt - OMIM)
 MPO
(UniProt - OMIM)

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


Citations in the biomedical literature:


Aceruloplasminemia
CP
Myeloperoxidase deficiency
MPO



Aceruloplasminemia
Myeloperoxidase deficiency

Synonym(s):
- Hereditary ceruloplasmin deficiency
Synonym(s):
- MPO deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Aceruloplasminemia

Very frequent
- Anaemia
- Autosomal recessive inheritance
- 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


Myeloperoxidase deficiency

(no data available)