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Congenital anosmia(ANIC)

MedGen UID:: 95992
•Concept ID:: C0393778
•: Congenital Abnormality

Synonyms:	ANIC; Isolated congenital anosmia
SNOMED CT:	Congenital anosmia (230502003)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal dominant inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0007137
OMIM®:	107200
Orphanet:	ORPHA88620

Definition

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). [from ORDO]

Clinical features

From HPO

Anosmia

MedGen UID:: 1950
•Concept ID:: C0003126
•: Finding

An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.

See: Feature record | Search on this feature

Abnormality of the nervous system
- Anosmia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAnosmia
- CROGVAnosmia, isolated congenital, X-linked
- CROGVCongenital anosmia

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Abnormal nervous system physiology
      - Abnormality of the sense of smell
        Anosmia
        Congenital anosmia

Follow this link to review classifications for Congenital anosmia in Orphanet.

Professional guidelines

PubMed

Morphological changes in secondary, but not primary, sensory cortex in individuals with life-long olfactory sensory deprivation.

Peter MG, Mårtensson G, Postma EM, Nordin LE, Westman E, Boesveldt S, Lundström JN
Neuroimage 2020 Sep;218:117005. Epub 2020 May 30 doi: 10.1016/j.neuroimage.2020.117005. PMID: 32485304

See all (1)

Recent clinical studies

Etiology

Congenital Anosmia and Facial Emotion Recognition.

Drummond J, Makdani A, Pawling R, Walker SC
Physiol Behav 2024 May 1;278:114519. Epub 2024 Mar 14 doi: 10.1016/j.physbeh.2024.114519. PMID: 38490365

Anterior Skull Base Abnormalities in Congenital Anosmia.

Yan X, Benkhatar H, Chao YT, Georgiopoulos C, Hummel T
ORL J Otorhinolaryngol Relat Spec 2024;86(1):1-12. Epub 2023 Aug 22 doi: 10.1159/000532077. PMID: 37607521

Normal Olfactory Functional Connectivity Despite Lifelong Absence of Olfactory Experiences.

Peter MG, Fransson P, Mårtensson G, Postma EM, Nordin LE, Westman E, Boesveldt S, Lundström JN
Cereb Cortex 2021 Jan 1;31(1):159-168. doi: 10.1093/cercor/bhaa217. PMID: 32810869 Free PMC Article

Pediatric anosmia: A case series.

Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575

Isolated and syndromic forms of congenital anosmia.

Karstensen HG, Tommerup N
Clin Genet 2012 Mar;81(3):210-5. Epub 2011 Oct 12 doi: 10.1111/j.1399-0004.2011.01776.x. PMID: 21895637

See all (20)

Diagnosis

Congenital Anosmia and Facial Emotion Recognition.

Drummond J, Makdani A, Pawling R, Walker SC
Physiol Behav 2024 May 1;278:114519. Epub 2024 Mar 14 doi: 10.1016/j.physbeh.2024.114519. PMID: 38490365

Pediatric anosmia: A case series.

Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575

Making sense of the chemical senses.

Gagnon L, Kupers R, Ptito M
Multisens Res 2014;27(5-6):399-419. doi: 10.1163/22134808-00002461. PMID: 25693303

Diagnosis and clinical characteristics of congenital anosmia: case series report.

Qu Q, Liu J, Ni D, Zhang Q, Yang D, Wang N, Wu X, Han H
J Otolaryngol Head Neck Surg 2010 Dec;39(6):723-31. PMID: 21144370

Congenital anosmia.

Vowles RH, Bleach NR, Rowe-Jones JM
Int J Pediatr Otorhinolaryngol 1997 Aug 20;41(2):207-14. doi: 10.1016/s0165-5876(97)00075-x. PMID: 9306177

See all (25)

Therapy

Clinical features of olfactory disorders in patients seeking medical consultation.

Chen G, Wei Y, Miao X, Li K, Ren Y, Liu J
Med Sci Monit 2013 Jun 10;19:444-50. doi: 10.12659/MSM.883938. PMID: 23748259 Free PMC Article

Olfactory event-related potentials to amyl acetate in congenital anosmia.

Cui L, Evans WJ
Electroencephalogr Clin Neurophysiol 1997 Apr;102(4):303-6. doi: 10.1016/s0013-4694(96)96109-x. PMID: 9146491

See all (2)

Prognosis

Identifying candidate genes underlying isolated congenital anosmia.

Kamarck ML, Trimmer C, Murphy NR, Gregory KM, Manoel D, Logan DW, Saraiva LR, Mainland JD
Clin Genet 2024 Apr;105(4):376-385. Epub 2023 Dec 26 doi: 10.1111/cge.14470. PMID: 38148624 Free PMC Article

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.

Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J
Neuroendocrinology 2021;111(1-2):99-114. Epub 2020 Feb 20 doi: 10.1159/000506640. PMID: 32074614

Next-generation sequencing of patients with congenital anosmia.

Alkelai A, Olender T, Dode C, Shushan S, Tatarskyy P, Furman-Haran E, Boyko V, Gross-Isseroff R, Halvorsen M, Greenbaum L, Milgrom R, Yamada K, Haneishi A, Blau I, Lancet D
Eur J Hum Genet 2017 Dec;25(12):1377-1387. Epub 2017 Nov 13 doi: 10.1038/s41431-017-0014-1. PMID: 29255181 Free PMC Article

Olfaction in the autism spectrum.

Galle SA, Courchesne V, Mottron L, Frasnelli J
Perception 2013;42(3):341-55. doi: 10.1068/p7337. PMID: 23837210

The clinical significance of electrophysiological measures of olfactory function.

Lötsch J, Hummel T
Behav Brain Res 2006 Jun 3;170(1):78-83. Epub 2006 Mar 24 doi: 10.1016/j.bbr.2006.02.013. PMID: 16563529

See all (6)

Clinical prediction guides

Identifying candidate genes underlying isolated congenital anosmia.

Kamarck ML, Trimmer C, Murphy NR, Gregory KM, Manoel D, Logan DW, Saraiva LR, Mainland JD
Clin Genet 2024 Apr;105(4):376-385. Epub 2023 Dec 26 doi: 10.1111/cge.14470. PMID: 38148624 Free PMC Article

A systematic review of olfactory-related brain structural changes in patients with congenital or acquired anosmia.

Manan HA, Yahya N, Han P, Hummel T
Brain Struct Funct 2022 Jan;227(1):177-202. Epub 2021 Oct 12 doi: 10.1007/s00429-021-02397-3. PMID: 34635958 Free PMC Article

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.

Next-generation sequencing of patients with congenital anosmia.

Congenital anosmia and emotion recognition: A case-control study.

Lemogne C, Smadja J, Zerdazi el-H, Soudry Y, Robin M, Berthoz S, Limosin F, Consoli SM, Bonfils P
Neuropsychologia 2015 Jun;72:52-8. Epub 2015 Apr 25 doi: 10.1016/j.neuropsychologia.2015.04.028. PMID: 25921869

See all (18)

Recent systematic reviews

A systematic review of olfactory-related brain structural changes in patients with congenital or acquired anosmia.

Manan HA, Yahya N, Han P, Hummel T
Brain Struct Funct 2022 Jan;227(1):177-202. Epub 2021 Oct 12 doi: 10.1007/s00429-021-02397-3. PMID: 34635958 Free PMC Article

See all (1)

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Congenital anosmia(ANIC)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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