ANIC
MCID: ANS017
MIFTS: 25

Anosmia, Isolated Congenital (ANIC)

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Anosmia, Isolated Congenital

MalaCards integrated aliases for Anosmia, Isolated Congenital:

Name: Anosmia, Isolated Congenital 57 13
Isolated Congenital Anosmia 20 58
Anic 57 20
Anosmia, Congenital 57
Congenital Anosmia 20

Characteristics:

Orphanet epidemiological data:

58
isolated congenital anosmia
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
anosmia, isolated congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 107200
ICD10 via Orphanet 33 Q07.8
UMLS via Orphanet 71 C0393778
Orphanet 58 ORPHA88620
MedGen 41 C0393778
SNOMED-CT via HPO 68 263681008 44169009

Summaries for Anosmia, Isolated Congenital

GARD : 20 Congenital anosmia is a condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome or congenital insensitivity to pain ). Isolated congenital anosmia is usually sporadic, although some familial cases have been reported. In most cases of isolated congenital anosmia, the genetic cause in unknown. Unfortunately, there is currently no cure or treatment for congenital anosmia.

MalaCards based summary : Anosmia, Isolated Congenital, also known as isolated congenital anosmia, is related to neuropathy, hereditary sensory and autonomic, type v and kallmann syndrome. An important gene associated with Anosmia, Isolated Congenital is CNGA2 (Cyclic Nucleotide Gated Channel Subunit Alpha 2). The drugs Paclitaxel and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are anosmia and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 107200

Related Diseases for Anosmia, Isolated Congenital

Diseases related to Anosmia, Isolated Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type v 11.0
2 kallmann syndrome 10.4
3 hypogonadism 10.2
4 hypogonadotropic hypogonadism 10.1
5 hepatocellular carcinoma 9.9
6 pleural cancer 9.9
7 charge syndrome 9.9
8 choanal atresia, posterior 9.9
9 pain sensitivity quantitative trait locus 1 9.9
10 microphthalmia 9.9
11 traumatic brain injury 9.9

Graphical network of the top 20 diseases related to Anosmia, Isolated Congenital:



Diseases related to Anosmia, Isolated Congenital

Symptoms & Phenotypes for Anosmia, Isolated Congenital

Human phenotypes related to Anosmia, Isolated Congenital:

31
# Description HPO Frequency HPO Source Accession
1 anosmia 31 HP:0000458

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
congenital anosmia

Clinical features from OMIM®:

107200 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Anosmia, Isolated Congenital according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-108 9.28 CNGA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.28 CNGA2 TENM1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 TENM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.28 TENM1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.28 TENM1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.28 CNGA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.28 CNGA2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.28 TENM1

Drugs & Therapeutics for Anosmia, Isolated Congenital

Drugs for Anosmia, Isolated Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved 33069-62-4 36314
2
Gemcitabine Approved 95058-81-4 60750
3 Albumin-Bound Paclitaxel
4 Immunosuppressive Agents
5 Anti-Infective Agents
6 Antiviral Agents
7 Antimetabolites
8 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epidemiological, Observational, Retrospective and Multicenter Study to Evaluate the Characteristics of Treatment With Gemcitabine and Nab-paclitaxel in Patients With Metastatic Pancreatic Adenocarcinoma Treated in the First Line in Routine Clinical Practice. ANICE-PaC Study Completed NCT03620461 Gemcitabine - nabpaclitaxel

Search NIH Clinical Center for Anosmia, Isolated Congenital

Genetic Tests for Anosmia, Isolated Congenital

Anatomical Context for Anosmia, Isolated Congenital

MalaCards organs/tissues related to Anosmia, Isolated Congenital:

40
Brain

Publications for Anosmia, Isolated Congenital

Articles related to Anosmia, Isolated Congenital:

(show all 26)
# Title Authors PMID Year
1
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 57
16606836 2006
2
Isolated congenital anosmia locus maps to 18p11.23-q12.2. 57
15060109 2004
3
Children who can't smell the coffee: isolated congenital anosmia. 57
9568760 1998
4
Familial anosmia. 57
5409599 1970
5
Familiar absence of olfaction. 57
5399208 1969
6
Hypogonadism and life-long anosmia. 57
5919183 1966
7
Olfactory acuity in an industrial population. 57
13965019 1963
8
Techniques in olfactometry; a critical review of the last 100 years. 57
18869064 1948
9
The first mutation in CNGA2 in two brothers with anosmia. 20
25156905 2015
10
Brain structure is changed in congenital anosmia. 20
23927902 2013
11
PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency. 20
23082007 2013
12
Isolated and syndromic forms of congenital anosmia. 20
21895637 2012
13
Congenital anosmia. 20
9306177 1997
14
Novapus bifidus Carne, 1957, a primary homonym and synonym of Novapus bifidus Lea, 1910 (Coleoptera: Scarabaeidae: Dynastinae). 61
31716573 2019
15
Wing polymorphism in Anaphothrips graminum (Thysanoptera: Thripidae). 61
30314258 2018
16
Six new species of Philiris Röber, 1891 (Lepidoptera, Lycaenidae) from Papua New Guinea. 61
24715788 2014
17
A Volume Celebrating the Life of Don Colless, Australian Dipterist 1922–2012. 61
26146692 2013
18
[Without sense and understanding? Rudolf Virchow's strategy of collecting by the example of his pathological museum]. 61
18447193 2007
19
[Mortality in the area around Massa-Carrara 10 years after ANIC-Agricoltura and Farmoplant chemical plants were shut down]. 61
16909961 2006
20
Chemical and functional identification and characterization of novel sulfated alpha-conotoxins from the cone snail Conus anemone. 61
14971903 2004
21
Health care use and charges for adolescents enrolled in a title XXI program. 61
11927238 2002
22
Effectiveness of batimastat, a synthetic inhibitor of matrix metalloproteinases, in neutralizing local tissue damage induced by BaP1, a hemorrhagic metalloproteinase from the venom of the snake bothrops asper. 61
10825472 2000
23
Cyclic AMP receptor protein and TyrR are required for acid pH and anaerobic induction of hyaB and aniC in Salmonella typhimurium. 61
9882690 1999
24
Activation of human neutrophils induced by immune complexes prepared with cationic and anionic fractions of normal IgG antibodies. 61
8602470 1996
25
Regulatory circuits involved with pH-regulated gene expression in Salmonella typhimurium. 61
8180699 1994
26
Novel regulatory loci controlling oxygen- and pH-regulated gene expression in Salmonella typhimurium. 61
3276666 1988

Variations for Anosmia, Isolated Congenital

Expression for Anosmia, Isolated Congenital

Search GEO for disease gene expression data for Anosmia, Isolated Congenital.

Pathways for Anosmia, Isolated Congenital

GO Terms for Anosmia, Isolated Congenital

Sources for Anosmia, Isolated Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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