Isolated congenital anosmia
General Information (adopted from Orphanet):
Synonyms, Signs: |
ANOSMIA, CONGENITAL ANIC |
Number of Symptoms | 3 |
OrphanetNr: | 88620 |
OMIM Id: |
107200
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | < 15 cases [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare otorhinolaryngologic disease
-Rare otorhinolaryngologic disease |
Symptom Information:
|
(HPO:0000458) | Anosmia | 49 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Congenital anosmia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
In a Japanese kindred, Yamamoto et al. (1966) found tremor and/or anosmia or hyposmia in 14 persons. They suggested that the 2 traits are independent dominants. Their findings may be equally consistent with the pleiotropic and variable effects ... |