Aceruloplasminemia

Preferred Label : Aceruloplasminemia;

Type : Phenotype, molecular basis known;

Included titles and symbols : Hypoceruloplasminemia; Ceruloplasmin deficiency; Hemosiderosis, systemic, due to aceruloplasminemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the ceruloplasmin gene (CP, 117700.0001).;

Laboratory abnormalities : Iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by CT and MRI; Decreased or absent serum ceruloplasmin; Decreased serum iron; Increased serum ferritin;

Prefixed ID : #604290;

Details

Origin ID

604290;

UMLS CUI

C0878682;

Automatic exact mappings (from CISMeF team)
- Aceruloplasminemia [NCIt concept]
- Decreased circulating ceruloplasmin concentration [HPO term]
- Hypoceruloplasminemia [PASCAL descriptor]
- hemosiderosis, systemic, due to aceruloplasminemia [MeSH Supplementary Concept]
- hemosiderosis, systemic, due to aceruloplasminemia [MeSH concept]
Currated CISMeF NLP mapping
- Acaeruloplasminaemia [ICD-11 More detail]
- Aceruloplasminemia [ORDO Disease]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [NCIt concept]
- Aceruloplasminemia [MeSH concept]
- Deficiency of ferroxidase (disorder) [SNOMED CT concept]
- Familial hypoceruloplasminemia (disorder) [SNOMED CT concept]
- aceruloplasminemia [Disease (Nov.)]
- aceruloplasminemia [DO Concept]
- familial apoceruloplasmin deficiency [MeSH Supplementary Concept]
- familial hypoceruloplasminemia [SNOMED Notion]
DO Cross reference
- aceruloplasminemia [DO Concept]
Genes related to phenotype
- Ceruloplasmin [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Aceruloplasminemia [HPO term]
- Adult onset [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharospasm [HPO term]
- Chorea [HPO term]
- Cogwheel rigidity [HPO term]
- Decreased serum iron [HPO term]
- Dementia [HPO term]
- Dementia, progressive [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Mild anemia [HPO term]
- Retinal degeneration [HPO term]
- Scanning speech [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Aceruloplasminemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aceruloplasminaemia [MedDRA LLT]
- Aceruloplasminemia [MeSH concept]
- Aceruloplasminemia [ORDO Disease]
- Aceruloplasminemia [HPO term]
- Aceruloplasminemia [MedDRA LLT]
- Aceruloplasminemia [NCIt concept]
- Deficiency of ferroxidase (disorder) [SNOMED CT concept]

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