Familial benign copper deficiency
historical
Synonyms: Familial benign hypocupremia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial benign copper deficiency | Familial benign hypocupremia |
| fr | Déficit familial bénin en cuivre | Hypocuprémie bénigne familiale |
| de | Kupfermangel, benigner familiärer | Hypokuprämie, benigne familiäre |
| es | Deficiencia de cobre familiar benigna | Hipocupremia benigna familiar |
| it | Deficit familiare benigno di rame | |
| nl | Familiale goedaardige koperdeficiëntie | Familiale goedaardige hypocupremie |
| pt | Deficiência de cobre familiar benigna | |
| pl | Rodzinny łagodny Niedobór miedzi | = en |
| cs | Benigní familiární deficit mědi | = en |
| uk | Сімейний доброякісний дефіцит міді | Сімейна доброякісна гіпокупремія |
| zh | 家族性良性铜缺乏症 | 家族性良性铜缺乏症 |
| tr | Ailesel selim bakır eksikliği | Ailesel selim hipokupremi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121270 | E | validated | |
| ICD-10 | E83.0 | NTBT | attributed | validated |
| ICD-11 | 5C64.0Y | NTBT | index | validated |
| MONDO | 0007368 | E | validated | |
| MeSH | C535468 | E | validated | |
| UMLS | C1852576 | E | validated | |
| GARD | 1522 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 2978614[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2978614[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0011967 | Decreased circulating copper concentration | |
| Frequent (79-30%) | ||
| HP:0001061 | Acne | |
| HP:0002002 | Deep philtrum | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0008060 | Aplasia/Hypoplasia of the fovea | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0002234 | Early balding | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1551
- This record as JSON: /data/d/1551.json