ORPHA:99141
Lymphedema-posterior choanal atresia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lymphedema-posterior choanal atresia syndrome | |
| fr | Syndrome de lymphoedème-atrésie postérieure des choanes | Syndrome d'atrésie choanale postérieure-lymphoedème |
| de | Lymphödem-posteriore Choanalatresie-Syndrom | |
| es | Atresia posterior de coanas-síndrome de linfedema | |
| it | Sindrome linfedema-atresia posteriore delle coane | |
| nl | Lymfoedeem - posterieure choane atresie-syndroom | |
| pt | Síndrome Atresia posterior das coanas - linfedema | |
| pl | Zespół atrezja nozdrzy tylnych - obrzęk limfatyczny | |
| cs | Syndrom zahrnující lymfedém a zadní atrézii choan | |
| uk | Синдром лімфедеми-задньої атрезії хоан | |
| zh | 淋巴水肿-后鼻孔闭锁综合征 | |
| tr | Lenfödem-posterior koanal atrezi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613611 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| MONDO | 0013324 | E | validated | |
| UMLS | C3150875 | 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 (3):
- ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:289825Late-onset primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTPN14 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9647 | ENSG00000152104 | 603155 | 1q32.3-q41 | protein tyrosine phosphatase non-receptor type 14 | 20826270[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 20826270[PMID] _DOI:10.1016/j.mgene.2017.07.006[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20826270[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99141
- This record as JSON: /data/d/99141.json