Details of Disease

General Information of Disease (ID: DISNRJVL)

Disease Name Anosmia
Synonyms anosmia (disease); anosmia
Definition
Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.
Disease Hierarchy
DISSAWXE: Nasal disorder
DISNRJVL: Anosmia
Disease Identifiers
MONDO ID
MONDO_0010528
MESH ID
D000086582
UMLS CUI
C0003126
MedGen ID
1950
HPO ID
HP:0000458
SNOMED CT ID
44169009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CNGA2 TT8SJGB Limited X-linked [1]
LPAR1 TTQ6S1K Strong Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNGA2 OTTQSBXM Limited X-linked [1]
TENM1 OTSKSU4V Limited X-linked [1]
ANOS1 OTZJT4KN moderate CausalMutation [3]
SMCHD1 OTBV52DR Strong CausalMutation [4]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Requirement for the lpA1 lysophosphatidic acid receptor gene in normal suckling behavior.Proc Natl Acad Sci U S A. 2000 Nov 21;97(24):13384-9. doi: 10.1073/pnas.97.24.13384.
3 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.
4 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9.