ORPHA:88620
Isolated congenital anosmia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital anosmia | |
| fr | Anosmie congénitale isolée | |
| de | Anosmie, isolierte kongenitale | |
| es | Anosmia congénita aislada | |
| it | Anosmia congenita isolata | |
| nl | Geïsoleerde congenitale anosmie | |
| pt | Anosmia congénita isolada | |
| pl | Izolowana wrodzona anosmia | |
| cs | Izolovaná vrozená anosmie | |
| uk | Ізольована вроджена аносмія | |
| zh | 孤立型先天性失嗅 | |
| tr | İzole doğumsal anozmi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107200 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| ICD-11 | CA0Y | NTBT | index | validated |
| MONDO | 0007137 | E | validated | |
| MeSH | C535983 | E | validated | |
| UMLS | C0393778 | E | validated | |
| GARD | 9486 | E | validated | |
| MedDRA | 10079876 | 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 (2):
- ORPHA:466084Genetic otorhinolaryngologic disease
rare genetic diseases - ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNGA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2149 | ENSG00000183862 | 300338 | Xq28 | cyclic nucleotide gated channel subunit alpha 2 | 25156905[PMID] |
| TENM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8117 | ENSG00000009694 | 300588 | Xq25 | teneurin transmembrane protein 1 | 27040985[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/88620
- This record as JSON: /data/d/88620.json