Congenital cataract-hearing loss-severe developmental delay syndrome
Synonyms: Congenital cataract-deafness-severe developmental delay syndrome · Huppke-Brendel syndrome · Lethal neurodegenerative disorder due to copper transport defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract-hearing loss-severe developmental delay syndrome | Congenital cataract-deafness-severe developmental delay syndrome · Huppke-Brendel syndrome · Lethal neurodegenerative disorder due to copper transport defect |
| fr | Syndrome de cataracte congénitale-surdité-retard de développement sévère | Neurodégénerescence létale par déficit du transport du cuivre · Syndrome de Huppke-Brendel |
| de | Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom | Huppke-Brendel-Syndrom · Letale neurodegenerative Krankheit durch Kupfer-Transport-Defekt |
| es | Síndrome de cataratas congénitas-hipoacusia-retraso grave del desarrollo | Síndrome de Huppke-Brendel · Síndrome de cataratas congénitas-sordera-retraso grave del desarrollo · Trastorno neurodegenerativo letal por un defecto de transporte del cobre |
| it | Sindrome cataratta congenita, sordità e grave ritardo dello sviluppo | Malattia neurodegenerativa letale da difetto del trasporto del rame · Sindrome cataratta congenita-sordità-grave ritardo dello sviluppo |
| nl | Congenitaal cataract - gehoorverlies - ernstige ontwikkelingsachterstand-syndroom | Congenitaal cataract - doofheid - ernstige ontwikkelingsachterstand-syndroom · Letale neurodegeneratieve aandoening door defect van kopertransport · Syndroom van Huppke-Brendel |
| pt | Síndrome de catarata congénita-perda auditiva-perturbação grave do desenvolvimento | |
| pl | Zespół zaćma wrodzona - niedosłuch - ciężkie opóźnienie rozwoju | Śmiertelne zaburzenie neurodegeneracyjne z powodu defektu transportu miedzi · Zespół zaćma wrodzona-głuchota-znaczne opóźnienie rozwoju |
| cs | Syndrom zahrnující vrozenou kataraktu, ztrátu sluchu a těžké opoždění vývoje | Syndrom zahrnující vrozenou kataraktu, hluchotu a těžké opoždění vývoje · Letální neurodegenerativní onemocnění způsobené poruchou transportu mědi |
| uk | Синдром вродженої катаракти-втрати слуху-тяжкої затримки розвитку | Синдром вродженої катаракти - глухоти - тяжкої затримки розвитку · Синдром Хупке-Бренделя · Летальний нейродегенеративний розлад через дефект транспорту міді |
| zh | 先天性白内障-听力损失-严重发育迟缓综合征 | 铜转运障碍所致致命性神经退行性病变 |
| tr | Doğumsal katarakt-işitme kaybı-ağır gelişme geriliği sendromu | Huppke-Brendel sendromu · Doğumsal katarakt-sağırlık-ağır gelişme geriliği sendromu · Bakır taşıma defektine bağlı letal nörodejeneratif bozukluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614482 | E | validated | |
| ICD-10 | E83.0 | NTBT | attributed | validated |
| ICD-11 | 5C64.0Y | NTBT | attributed | validated |
| MONDO | 0013772 | E | validated | |
| UMLS | C4751114 | 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 (5):
- ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC33A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:95 | ENSG00000169359 | 603690 | 3q25.31 | solute carrier family 33 member 1 | 22243965[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 15902551[PMID]_22243965[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15902551[PMID]_22243965[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300313
- This record as JSON: /data/d/300313.json