Isolated congenital anosmia

General Information (adopted from Orphanet):

Synonyms, Signs: ANOSMIA, CONGENITAL
ANIC
Number of Symptoms 3
OrphanetNr: 88620
OMIM Id: 107200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000458) Anosmia 49 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Congenital anosmia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...