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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/604290
http://purl.bioontology.org/ontology/OMIM/604290
|
|---|---|
| Preferred Name | ACERULOPLASMINEMIA |
| Synonyms |
CERULOPLASMIN DEFICIENCY
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10
ACEP
NBIA10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CERULOPLASMIN DEFICIENCY
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10
ACEP
NBIA10
|
|---|---|
| prefLabel | ACERULOPLASMINEMIA
|
| Gene Symbol | CP
|
| Scope Statement | Caused by mutation in the ceruloplasmin gene (CP, 117700.0001) [MOLECULAR BASIS]
Some heterozygous carriers may have mild symptoms [MISCELLANEOUS]
Onset of anemia in childhood [MISCELLANEOUS]
Onset of neurologic symptoms in middle age [MISCELLANEOUS]
Phenotypic heterogeneity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q23-q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 604290
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0878682
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |