Anosmia, Isolated Congenital; Anic

Description

This syndrome is characterised 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 (see this term).

Clinical Features

Phenotypes and symptoms related to Anosmia, Isolated Congenital; Anic

  • Anosmia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Anosmia, Isolated Congenital; Anic Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CNGA2.

By Fulgent Genetics Fulgent Genetics in United States.

CNGA2
Specificity
100 %
Genes
50 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company in Germany.

RAX, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, VSX2, BMP4, TENM3, ALDH1A3, TENM1
Specificity
8 %
Genes
50 %
Colobomatous microphthalmia.

By Centogene AG - the Rare Disease Company in Germany.

TENM1
Specificity
100 %
Genes
50 %
TENM1.

By Fulgent Genetics Fulgent Genetics in United States.

TENM1
Specificity
100 %
Genes
50 %

Alternate names

Anosmia, Isolated Congenital; Anic Is also known as anosmia, congenital;.



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