Siegler-Brewer-Carey syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Siegler-Brewer-Carey syndrome | |
| fr | Syndrome de Siegler-Brewer-Carey | |
| de | Siegler-Brewer-Carey-Syndrom | |
| es | Síndrome de Siegler-Brewer-Carey | |
| it | Sindrome di Siegler-Brewer-Carey | |
| nl | Syndroom van Siegler-Brewer-Carey | |
| pt | Síndrome Siegler-Brewer-Carey | |
| pl | Zespół Sieglera, Brewera i Carey'a | |
| cs | Sieglerův-Brewerův-Careyho syndrom | Siegler-Brewer-Careyho syndrom |
| uk | Синдром Зіглера-Брюера-Кері | |
| zh | Siegler-Brewer-Carey综合征 | |
| tr | Siegler-Brewer-Carey sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J98.8 | NTBT | attributed | validated |
| ICD-11 | CB40.Y | NTBT | attributed | validated |
| MONDO | 0017849 | E | validated | |
| MeSH | C537335 | E | validated | |
| UMLS | C2931473 | E | validated | |
| GARD | 4867 | 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 (4):
- ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
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 | 2 cases | Worldwide | Case(s) | Validated | 1442888[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1442888[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/3167
- This record as JSON: /data/d/3167.json