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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital anosmia


Other Names for this Disease
  • ANIC
  • Isolated congenital anosmia
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Cause

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What causes congenital anosmia?

Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain).[1]

Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell.[1]

Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.[1][2]
Last updated: 6/8/2015

References
  1. Karstensen HG, Tommerup N. Isolated and syndromic forms of congenital anosmia. Clin Genet. March 2012; 81(3):210-215.
  2. Moya-Plana A, Villanueva C, Laccourreye O, Bonfils P, de Roux N. PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency. Eur J Endocrinol. December 2012; 168(1):31-37.


Other Names for this Disease
  • ANIC
  • Isolated congenital anosmia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.