ORPHA:48818
Aceruloplasminemia
Synonyms: Hereditary ceruloplasmin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia (often microcytic), visceral and brain iron accumulation, diabetes, various neurological symptoms and retinal degeneration.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aceruloplasminemia | Hereditary ceruloplasmin deficiency |
| fr | Acéruléoplasminémie | Déficit héréditaire en céruloplasmine |
| de | Aceruloplasminämie | Ceruloplasmin-Mangel, hereditärer |
| es | Aceruloplasminemia | Deficiencia hereditaria de ceruloplasmina |
| it | Aceruloplasminemia | Deficit ereditario di ceruloplasmina |
| nl | Aceruloplasminemie | Erfelijke ceruloplasminedeficiëntie · Erfelijke hypoceruloplasminemie |
| pt | Aceruloplasminemia | |
| pl | Aceruloplazminemia | Dziedziczny Niedobór ceruloplazminy |
| cs | Aceruloplasminemie | Dědičný deficit ceruloplasminu |
| uk | Ацерулоплазмінемія | Спадковий дефіцит церулоплазміну |
| zh | 血浆铜蓝蛋白缺乏症 | 遗传性血浆铜蓝蛋白缺乏症 |
| tr | Aseruloplazminemi | Kalıtsal seruloplazmin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604290 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 3A00.Y | NTBT | index | validated |
| MONDO | 0011426 | E | validated | |
| MeSH | C536004 | E | validated | |
| UMLS | C0878682 | E | validated | |
| GARD | 9499 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98360Constitutional anemia due to iron metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2295 | ENSG00000047457 | 117700 | 3q24-q25.1 | ceruloplasmin | 20301666[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Japan | Value and class | Validated | 10449129[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
41 annotations · validated 2020-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0025498 | Aceruloplasminemia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0005505 | Refractory anemia | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0010837 | Decreased circulating ceruloplasmin concentration | |
| HP:0011967 | Decreased circulating copper concentration | |
| HP:0040303 | Decreased serum iron | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0002066 | Gait ataxia | |
| HP:0004305 | Involuntary movements | |
| HP:0002070 | Limb ataxia | |
| HP:0000608 | Macular degeneration | |
| HP:0000546 | Retinal degeneration | |
| Occasional (29-5%) | ||
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0012090 | Abnormal pancreas morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0002304 | Akinesia | |
| HP:0000741 | Apathy | |
| HP:0000643 | Blepharospasm | |
| HP:0001635 | Congestive heart failure | |
| HP:0012179 | Craniofacial dystonia | |
| HP:0000273 | Facial grimacing | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0002354 | Memory impairment | |
| HP:0000639 | Nystagmus | |
| HP:0001300 | Parkinsonism | |
| HP:0002063 | Rigidity | |
| HP:0000473 | Torticollis | |
| HP:0001337 | Tremor | |
| Excluded (0%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0001395 | Hepatic fibrosis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301666[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48818
- This record as JSON: /data/d/48818.json