Details of Disease

General Information of Disease (ID: DISP2NP8)

Disease Name Isolated congenital anosmia
Synonyms congenital anosmia; anosmia, congenital; anosmia, isolated congenital; ANIC
Definition
This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.
Disease Hierarchy
DISUEW2W: Hereditary otorhinolaryngologic disease
DISNRJVL: Anosmia
DISP2NP8: Isolated congenital anosmia
Disease Identifiers
MONDO ID
MONDO_0007137
MESH ID
C535983
UMLS CUI
C0393778
OMIM ID
107200
MedGen ID
95992
Orphanet ID
88620
SNOMED CT ID
230502003

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 Biomarker [1]
CNGA2 TT8SJGB Supportive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNGA2 OTTQSBXM Supportive Autosomal dominant [2]
TENM1 OTSKSU4V Supportive Autosomal dominant [3]
PROK2 OT70IFEZ Strong Genetic Variation [4]
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References

1 Isolated Congenital Anosmia and CNGA2 Mutation.Sci Rep. 2017 Jun 1;7(1):2667. doi: 10.1038/s41598-017-02947-y.
2 The first mutation in CNGA2 in two brothers with anosmia. Clin Genet. 2015 Sep;88(3):293-6. doi: 10.1111/cge.12491. Epub 2014 Oct 14.
3 A role for TENM1 mutations in congenital general anosmia. Clin Genet. 2016 Sep;90(3):211-9. doi: 10.1111/cge.12782. Epub 2016 May 31.
4 PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.Eur J Endocrinol. 2012 Dec 10;168(1):31-7. doi: 10.1530/EJE-12-0578. Print 2013 Jan.