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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C536004
http://purl.bioontology.org/ontology/MESH/C536004
|
|---|---|
| Preferred Name | Familial apoceruloplasmin deficiency |
| Synonyms |
Ceruloplasmin deficiency
Hereditary hypoceruloplasminemia
Hypoceruloplasminemia
Aceruloplasminemia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Ceruloplasmin deficiency
Hereditary hypoceruloplasminemia
Hypoceruloplasminemia
Aceruloplasminemia
|
|---|---|
| prefLabel | Familial apoceruloplasmin deficiency
|
| Scope Statement | A hereditary autosomal recessive iron metabolism disorder, where iron gradually accumulates in the brain and other organs. It is characterized by neurologic symptoms that include DYSTONIA and TICS of the head, neck, face, and eyelids (BLEPHAROSPASM), TREMOR; CHOREA, and ATAXIA. DEMENTIA may occur in middle aged patients. Iron damage to pancreatic cells may cause DIABETES MELLITUS and iron accumulation in the tissues and organs results in a deficiency of iron in the blood, leading to ANEMIA; anemia and diabetes usually occur in young adulthood. Excess iron may also affect the eye, causing RETINAL DEGENERATION. Mutations in the CP gene have been identified. OMIM: 604290
|
| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D019189
D019636
D002570/Q000172
|
| SC | 3
|
| TERMUI |
T737931
T737932
T752663
T807406
T752662
|
| TH |
OMIM (2013)
ORD (2010)
|
| MMR | 20150818
|
| notation | C536004
|
| Semantic type UMLS property | |
| cui |
C0878682
C2931082
|
| MeSH Frequency | 84
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |