Summaries for Anosmia

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44Wikipedia, 22MalaCards
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Wikipedia: Anosmia (pronounced /ænˈɒzmiə/) is the inability to perceive odor, or in other words a lack of...44 more...

MalaCards: Anosmia is related to kallmann syndrome and kallmann syndrome 1. An important gene associated with Anosmia is ANIC (Anosmia, isolated congenital), and among its related pathways is G alpha (q) signalling events. The compound forskolin have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Aliases & Descriptions for Anosmia

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7diseasecard
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anosmia 7

Related Diseases for Anosmia

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13GeneCards, 14GeneDecks
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Diseases related to anosmia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome28.9PROKR2, GNRHR, XG, FGFR1, FGF8, KAL1
2kallmann syndrome 127.6KAL1, FGFR1
3delayed puberty26.8GNRHR, FGFR1
4x-linked ichthyosis26.6XG, KAL1
5hypogonadotropism26.5FGFR1, GNRHR, PROKR2, XG, KAL1, FGF8
6hypogonadism26.5FGF8, KAL1, XG, PROKR2, CHD7, FGFR1
7ichthyosis25.8PHYH, KAL1, PEX7, XG
8neuronitis20.6IFNA1, GNRHR, PROKR2, PHYH, PROK2, FGFR1
9charge syndrome13.2KAL1, CHD7
10infectious mononucleosis13.1FGFR1, FGF8
11joubert syndrome and related disorders13.1CEP290, NPHP1
12rhizomelic chondrodysplasia punctata type 213.1PHYH, PEX7
13rhizomelic chondrodysplasia punctata13.1PHYH, PEX7
14peroxisomal disease12.9PHYH, PEX7
15aorta atresia12.8CHD7, GNRHR
16klinefelter's syndrome12.8GNRHR, FGFR1, CHD7
17early-onset ataxia with oculomotor apraxia and hypoalbuminemia12.8NPHP1, CEP290
18coloboma12.7CHD7, NPHP1, CEP290
19polydactyly12.7FGF8, NPHP1, CEP290
20cryptorchidism12.6GNRHR, FGFR1, KAL1, PROKR2
21infantile refsum disease12.4PEX7, PHYH
22gonadotropin deficiency12.4KAL1, FGFR1, PROKR2, PROK2, GNRHR
23cerebellar ataxia12.3PHYH, PEX7, NPHP1
24rhyns syndrome12.3PEX7, NPHP1, CEP290, PHYH
25chondrodysplasia punctata12.3XG, PHYH, PEX7
26tooth agenesis12.2FGFR1, PROKR2, FGF8, CHD7, PROK2, KAL1
27renal agenesis12.2FGF8, FGFR1, PROK2, CHD7, KAL1, PROKR2
28stickler syndrome12.2PROKR2, KAL1, FGFR1, PROK2, FGF8, CHD7
29cleft lip12.2PROK2, FGFR1, KAL1, CHD7, PROKR2, FGF8
30hyperparathyroidism12.2NPHP1, KAL1, FGFR1, SDHB
31chondrodysplasia11.7PEX7, XG, PHYH, FGFR1, ADCY4
32neuropathy11.4SCN9A, IFNA1, PHYH, PEX7, FGFR1
33retinitis10.9CEP290, IFNA1, PEX7, NPHP1, FGFR1, PHYH
34thyroiditis10.9PROKR2, NPHP1, SDHB, FGFR1, IFNA1, FGF8
35congenital anosmia8.1
36hypogonadotropic hypogonadism without anosmia, x-linked6.1
37hypogonadotropic hypogonadism 13 with or without anosmia6.1
38hypogonadotropic hypogonadism 9 with or without anosmia6.1
39kallmann syndrome 46.1
40refsum disease6.1
41cerebritis5.2
42hepatitis c5.2
43hepatitis5.2
44hereditary sensory neuropathy5.2
45isolated gonadotropin-releasing hormone (gnrh) deficiency5.2
46johnson neuroectodermal syndrome5.2
47kallmann syndrome 25.2
48kallmann syndrome 35.2
49kallmann syndrome 55.2
50kallmann syndrome 65.2

Graphical network of the top 20 diseases related to anosmia:



Graphical network of diseases related to anosmia

Clinical Features for Anosmia

Drugs & Therapeutics for Anosmia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Anosmia

Anatomical Context for Anosmia

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22MalaCards
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MalaCards organs/tissues related to anosmia:

22
Temporal lobe

Phenotypes for genes affiliated with Anosmia

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25MGI
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MGI Mouse Phenotypes related to anosmia:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1vision/eye phenotypeMP:00053918.4NPHP1, FGFR1, FGF8, CEP290, CHD7, PEX7
2endocrine/exocrine gland phenotypeMP:00053798.0PEX7, NPHP1, PROKR2, GNRHR, FGFR1, FGF8
3reproductive system phenotypeMP:00053897.8CHD7, PEX7, NPHP1, PROKR2, PHYH, GNRHR
4nervous system phenotypeMP:00036317.1PEX7, PROKR2, PROK2, PHYH, FGFR1, FGF8

Publications for genes affiliated with Anosmia

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35PubMed
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Articles related to anosmia:

(show all 11)
idTitleAuthorsYearAffiliating Genes
1Loss-of-function mutations in sodium channel Nav1.7 c ause anosmia. (21441906)Weiss J.... Zufall F.2011SCN9A
2Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. (17898177)McEwen D.P.... Martens J.R.2007NPHP1, CEP290
3Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. (16882753)Trarbach E.B.... Latronico A.C.2006FGFR1, KAL1
4Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. (16286771)de Roux N.2005FGFR1, GNRHR, KAL1
5Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. (15613419)Pitteloud N.... Crowley W.F.2005FGFR1
6Isolated congenital anosmia locus maps to 18p11.23-q12.2. (15060109)Ghadami M.... Yoshiura K.2004ANIC
7Zinc sulphate-induced anosmia decreases the nerve fib re density in the anterior cerebral artery of the rat. (11775698)van Denderen J.C.... Bleys R.L.2001SDHB
8Disruption of the type III adenylyl cyclase gene leads to peripheral and behavioral anosmia in transgenic mice. (11055432)Wong S.T.... Storm D.R.2000ADCY4
9Interferon-induced anosmia in a patient with chronic hepatitis C. (9448193)Maruyama S.... Nakamoto M.1998IFNA1
10Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. (1977309)Meitinger T.... Ballabio A.1990KAL1
11X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. (3007328)Ballabio A.... Andria G.1986XG

Expression for genes affiliated with Anosmia

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Anosmia

Pathways for genes affiliated with Anosmia

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38Reactome
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Pathways related to anosmia according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1G alpha (q) signalling events389.6GNRHR, PROK2, PROKR2

Compounds for genes affiliated with Anosmia

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank
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Compounds related to anosmia according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1forskolin32 42 9 9 12.2FGF8, FGFR1, GNRHR, ADCY4

GO Terms for genes affiliated with Anosmia

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12Gene Ontology
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Cellular components related to anosmia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:0323919.8CEP290, NPHP1

Biological processes related to anosmia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1otic vesicle formationGO:0309169.8CEP290, FGF8
2branching involved in salivary gland morphogenesisGO:0604459.8FGFR1, FGF8
3fibroblast growth factor receptor signaling pathwayGO:0085439.7FGF8, FGFR1, ADCY4
4organ inductionGO:0017599.6FGF8, FGFR1
5retina development in camera-type eyeGO:0600419.4CHD7, CEP290, NPHP1

Sources for Anosmia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS