Familial nasal acilia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial nasal acilia | |
| fr | Absence familiale de cils nasaux | |
| de | Syndrom der fehlenden Nasenzilien, familiäre Form | |
| es | Acilia nasal familiar | |
| it | Assenza delle ciglia nasali, forma familiare | |
| nl | Familiale nasale acilie | |
| pt | Acilia nasal familiar | |
| pl | Rodzinny brak rzęsek w nosie | |
| cs | Familiární nazální acilie | Familiární chybění nazálních řasinek |
| uk | Сімейна відсутність назальних війок | |
| zh | 家族性鼻腔无纤毛症 | |
| tr | Ailesel nazal asilia |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.8 | NTBT | attributed | validated |
| ICD-11 | LA75.Y | NTBT | attributed | validated |
| MONDO | 0019634 | E | validated | |
| UMLS | C4706505 | E | validated | |
| GARD | 2254 | 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 (2):
- ORPHA:466084Genetic otorhinolaryngologic disease
rare genetic diseases - ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological 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 | 8 cases | Worldwide | Case(s) | Validated | 4002006[PMID]_8813877[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4002006[PMID]_8813877[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
8 annotations · validated 2016-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005938 | Abnormal respiratory motile cilium morphology | |
| HP:0002110 | Bronchiectasis | |
| HP:0002257 | Chronic rhinitis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| Occasional (29-5%) | ||
| HP:0100750 | Atelectasis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0002094 | Dyspnea | |
| HP:0002098 | Respiratory distress | |
Annotation source: 8813877[PMID]_4002006[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/922
- This record as JSON: /data/d/922.json