Cytoscape Web
Click node...

Aceruloplasminemia
1 OMIM reference -
1 associated gene
14 connected diseases
20 signs/symptoms
Disease Type of connection
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Hypoplasminogenemia
Ligneous conjunctivitis
B-cell chronic lymphocytic leukemia
Cornelia de Lange syndrome
Hemochromatosis type 4
Split hand-split foot malformation
Hereditary thrombophilia due to congenital protein C deficiency
Menkes disease
Myeloperoxidase deficiency
Occipital horn syndrome
X-linked distal spinal muscular atrophy
Synonym(s):
- Hereditary ceruloplasmin deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
CP P00450117700
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