Arrhinia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Nose agenesis |
| Number of Symptoms | 6 |
| OrphanetNr: | 1134 |
| OMIM Id: |
|
| ICD-10: |
Q30.1 |
| UMLs: |
C0265740 |
| MeSH: |
C537438 |
| MedDRA: |
|
| Snomed: |
111317000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 20 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nose and cavum anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0004408) | Abnormality of the sense of smell | Very frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
|
|
(HPO:0000479) | Abnormality of the retina | Very frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000612) | Iris coloboma | Very frequent [Orphanet] | 116 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|