ORPHA:163
Hereditary hyperferritinemia-cataract syndrome
Synonyms: HHCS · Hereditary hyperferritinemia with cataracts · Hereditary hyperferritinemia-cataract disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hyperferritinemia-cataract syndrome | HHCS · Hereditary hyperferritinemia with cataracts · Hereditary hyperferritinemia-cataract disease |
| fr | Syndrome d'hyperferritinémie-cataracte héréditaire | HHCS · Maladie d'hyperferritinémie-cataracte héréditaire |
| de | Hereditäre Hyperferritinämie-Katarakt-Syndrom | HHCS · Hyperferritinämie, hereditäre, mit kongenitaler Katarakt |
| es | Síndrome de hiperferritinemia hereditaria-catarata | Enfermedad de hiperferritinemia hereditaria-cataratas · HHCS · Hiperferritinemia hereditaria con cataratas |
| it | Sindrome iperferritinemia ereditaria-cataratta | HHCS · Iperferritinemia ereditaria con cataratta · Iperferritinemia ereditaria-cataratta · Sindrome di Bonneau-Beaumont · Sindrome iperferritinemia ereditaria-cataratta |
| nl | Hereditaire hyperferritinemie - cataract-syndroom | HHCS · Hereditaire hyperferritinemie - cataract-ziekte · Hereditaire hyperferritinemie met cataract |
| pt | Síndrome de hiperferritinemia hereditária-catarata | Doença de hiperferritinemia hereditária-catarata · HHCS · Hiperferritinemia hereditária com cataratas |
| pl | Hiperferrytynemia dziedziczna z wrodzoną zaćmą | HHCS · Zespół hiperferrytemia dziedziczna-zaćma · Zespół Bonneau i Beaumont · Dziedziczny zespół hiperferrytynemii i zaćmy |
| cs | Dědičná hyperferitinémie s vrozenou kataraktou | HHCS · Bonneauův-Beaumontové syndrom · Syndrom zahrnující dědičnou hyperferitinémii a kataraktu · Bonneau-Beaumontové syndrom |
| uk | Синдром спадкової гіперферритинемії - катаракти | Спадкова гіперферритинемія з катарактою · Спадкова гіперферритинемія - катаракта · HHCS |
| zh | 遗传性高铁蛋白血症-白内障综合征 | 遗传性高铁蛋白血症伴先天性白内障 |
| tr | Kalıtsal hiperferritinemi-katarakt sendromu | HHCS · Bonneau-Beaumont sendromu · Doğumsal kataraktlı kalıtsal hiperferritinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600886 | NTBT | validated | |
| ICD-10 | H26.0 | NTBT | attributed | validated |
| ICD-11 | 9B10.1Y | NTBT | attributed | validated |
| MONDO | 0010952 | E | validated | |
| MeSH | C538137 | E | validated | |
| UMLS | C1833213 | E | validated | |
| GARD | 2806 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTL | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3999 | ENSG00000087086 | 134790 | 19q13.33 | ferritin light chain | 10759702[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 120 cases | Worldwide | Case(s) | Validated | 34789084[PMID]_36287435[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34789084[PMID]_36287435[PMID]_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.
6
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000518 | Cataract | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163
- This record as JSON: /data/d/163.json