Aliases & Classifications for Anosmia

MalaCards integrated aliases for Anosmia:

Name: Anosmia 57 76 29 6

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
anosmia:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 301700
MedGen 42 C0003126
ICD10 33 R43.0
SNOMED-CT via HPO 69 44169009 263934009

Summaries for Anosmia

MalaCards based summary : Anosmia is related to hypogonadotropic hypogonadism 7 with or without anosmia and kallmann syndrome. An important gene associated with Anosmia is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and FGFR1 mutant receptor activation. The drugs Fluticasone and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and testes, and related phenotype is anosmia.

Wikipedia : 76 Anosmia is the inability to perceive odor or a lack of functioning olfaction—the loss of the sense of... more...

Description from OMIM: 301700

Related Diseases for Anosmia

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 31.4 FEZF1 FGF17 SPRY4
2 kallmann syndrome 28.9 ANOS1 FEZF1 FGF17 FGFR1 PROKR2 SPRY4
3 charge syndrome 28.5 ANOS1 FGFR1 PROKR2
4 hypogonadism 27.9 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
5 hypogonadotropic hypogonadism 27.8 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
6 anosmia, isolated congenital 12.3
7 hypogonadotropic hypogonadism 1 with or without anosmia 12.3
8 hypogonadotropic hypogonadism 10 with or without anosmia 12.3
9 hypogonadotropic hypogonadism 21 with or without anosmia 12.3
10 hypogonadotropic hypogonadism 8 with or without anosmia 12.3
11 hypogonadotropic hypogonadism 11 with or without anosmia 12.3
12 hypogonadotropic hypogonadism 12 with or without anosmia 12.3
13 hypogonadotropic hypogonadism 13 with or without anosmia 12.3
14 hypogonadotropic hypogonadism 15 with or without anosmia 12.3
15 hypogonadotropic hypogonadism 16 with or without anosmia 12.3
16 hypogonadotropic hypogonadism 20 with or without anosmia 12.3
17 hypogonadotropic hypogonadism 9 with or without anosmia 12.3
18 hypogonadotropic hypogonadism 14 with or without anosmia 12.3
19 hypogonadotropic hypogonadism 17 with or without anosmia 12.3
20 hypogonadotropic hypogonadism 19 with or without anosmia 12.3
21 hypogonadotropic hypogonadism 22 with or without anosmia 12.3
22 hypogonadotropic hypogonadism 3 with or without anosmia 12.2
23 hypogonadotropic hypogonadism 5 with or without anosmia 12.2
24 hypogonadotropic hypogonadism 18 with or without anosmia 12.2
25 hypogonadotropic hypogonadism 4 with or without anosmia 12.2
26 hypogonadotropic hypogonadism 6 with or without anosmia 12.2
27 hypogonadotropic hypogonadism 2 with or without anosmia 12.2
28 hypogonadotropic hypogonadism 23 without anosmia 12.1
29 hypogonadotropic hypogonadism 24 without anosmia 12.1
30 anosmia for isobutyric acid 11.7
31 anosmia for butyl mercaptan 11.7
32 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 11.7
33 hypogonadotropic hypogonadism without anosmia, x-linked 11.7
34 johnson neuroectodermal syndrome 11.6
35 refsum disease, classic 11.1
36 waardenburg syndrome, type 2e 11.0
37 neuropathy, hereditary sensory and autonomic, type v 10.8
38 bardet-biedl syndrome 4 10.8
39 body mass index quantitative trait locus 19 10.8
40 hypogonadotropism 10.3
41 brain injury 10.1
42 traumatic brain injury 10.1
43 ichthyosis, x-linked 10.0
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
45 ichthyosis 10.0
46 neuropathy 10.0
47 alzheimer disease 9.9
48 sensorineural hearing loss 9.9
49 amenorrhea 9.9
50 cerebritis 9.9

Graphical network of the top 20 diseases related to Anosmia:



Diseases related to Anosmia

Symptoms & Phenotypes for Anosmia

Symptoms via clinical synopsis from OMIM:

57
Nose:
anosmia


Clinical features from OMIM:

301700

Human phenotypes related to Anosmia:

32
# Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458

Drugs & Therapeutics for Anosmia

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluticasone Approved, Experimental, Investigational Phase 4 90566-53-3 62924
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Budesonide Approved Phase 4,Phase 2,Phase 3 51333-22-3 63006 5281004
5
Ethanol Approved Phase 4 64-17-5 702
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
8
Clarithromycin Approved Phase 4 81103-11-9 84029
9
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
10
2-Phenylethanol Experimental Phase 4 60-12-8 6054
11 Anti-Allergic Agents Phase 4,Phase 3,Phase 2
12 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3
13 Antiemetics Phase 4
14 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
15 Antineoplastic Agents, Hormonal Phase 4
16 Autonomic Agents Phase 4,Phase 2,Phase 3
17 Bronchodilator Agents Phase 4,Phase 2,Phase 3
18 Dermatologic Agents Phase 4,Phase 3,Phase 2
19 Gastrointestinal Agents Phase 4
20 glucocorticoids Phase 4,Phase 2,Phase 3
21 Hormone Antagonists Phase 4,Phase 2,Phase 3
22 Hormones Phase 4,Phase 2,Phase 3
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
24 Methylprednisolone acetate Phase 4
25 Methylprednisolone Hemisuccinate Phase 4
26 Neuroprotective Agents Phase 4
27 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
28 Prednisolone acetate Phase 4
29 Prednisolone hemisuccinate Phase 4
30 Prednisolone phosphate Phase 4
31 Protective Agents Phase 4,Phase 2,Early Phase 1
32 Respiratory System Agents Phase 4,Phase 2,Phase 3,Early Phase 1
33 Anti-Infective Agents Phase 4,Early Phase 1
34 mometasone furoate Phase 4,Phase 3,Phase 2
35 cadexomer iodine Phase 4
36 Amoxicillin-Potassium Clavulanate Combination Phase 4
37 Anti-Bacterial Agents Phase 4
38 Antibiotics, Antitubercular Phase 4
39 beta-Lactamase Inhibitors Phase 4
40 Clavulanic Acid Phase 4
41 Histamine Antagonists Phase 4
42 Histamine H1 Antagonists Phase 4
43 penicillins Phase 4
44 Eucalyptus Nutraceutical Phase 4
45 Pharmaceutical Solutions Phase 2, Phase 3,Phase 3
46 Antibodies Phase 3,Phase 2
47 Antibodies, Monoclonal Phase 3,Phase 2
48 Immunoglobulins Phase 3,Phase 2
49
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
50
Pramipexole Approved, Investigational Phase 2 104632-26-0 59868 119570

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Medical Polypectomy and Predictors of Response Completed NCT00788749 Phase 4 Prednisolone;Placebo
2 Steroid Nasal Irrigation for Flavor Evaluation and Detection Study Recruiting NCT02985515 Phase 4 Budesonide
3 Corticosteroid Therapy for Chronic Rhinosinusitis Without Nasal Polyps (CRSsNP) Terminated NCT01676415 Phase 4 Prednisone;Topical mometasone
4 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3 budesonide
5 Effect of Mepolizumab in Severe Bilateral Nasal Polyps Recruiting NCT03085797 Phase 3 Mepolizumab;Placebo;Mometasone furoate
6 An Extension Study of Omalizumab in Participants With Chronic Rhinosinusitis With Nasal Polyps Recruiting NCT03478930 Phase 3 Omalizumab;Placebo
7 A Controlled Clinical Study of Dupilumab in Patients With Nasal Polyps Active, not recruiting NCT02912468 Phase 3 Dupilumab SAR231893 (REGN668);Placebo;Mometasone furoate nasal spray
8 Controlled Clinical Study of Dupilumab in Patients With Nasal Polyps Active, not recruiting NCT02898454 Phase 3 Dupilumab SAR231893 (REGN668);Placebo;Mometasone furoate nasal spray
9 Effects of Mepolizumab Compared to Placebo on Airway Physiology in Patients With Eosinophilic Asthma: MEMORY Study Terminated NCT02594332 Phase 3 Mepolizumab;Placebo
10 Study of Dexpramipexole Chronic Sinusitis With Nasal Polyps and Eosinophilia Completed NCT02217332 Phase 2 dexpramipexole
11 An Evaluation of Dupilumab in Patients With Nasal Polyposis And Chronic Symptoms Of Sinusitis Completed NCT01920893 Phase 2 Placebo (for dupilumab);Dupilumab;Mometasone furoate nasal spray
12 Mepolizumab in Nasal Polyposis Completed NCT01362244 Phase 2 Mepolizumab;Placebo;Run In Medication
13 Trial of Directed High-dose Nasal Steroids on Residual Smell Loss in Sinus Patients After Sinus Surgery Withdrawn NCT01814618 Phase 2 Budesonide Respules
14 Does Cardiopulmonary Bypass Change Olfaction? Unknown status NCT02179554
15 Sertraline vs. Placebo for Symptoms Following Traumatic Brain Injury Unknown status NCT00208585 Not Applicable sertraline
16 Coblation in Endoscopic Sinus Surgery Unknown status NCT01793987 Not Applicable
17 Exploring the Relationship Between Alpha-synucleinopathy Related Non-motor Symptom and Post-op. Delirium in Elderly Patients With Spine Surgery Unknown status NCT02550626
18 Evaluation of a Combined Parent-student Programme for Smoking Prevention in Berlin Schools Unknown status NCT01306552 Not Applicable
19 NAC Trial for Anosmia Completed NCT02481609 Early Phase 1 N-acetyl cysteine (NAC)
20 Experiments to Test How and Why the Sense of Smell Differs Between People Completed NCT00220038
21 Study to Compare Resection Versus Preservation of the Middle Turbinate in Surgery for Nasal Polyps Completed NCT02855931 Not Applicable
22 Is Pentoxifylline Able to Improve Olfactory Sensitivity? Completed NCT00660868 Pentoxifylline retard 400mg
23 Intestinal and Nasal Microbiota of Patients With Idiopathic Parkinson's Disease Completed NCT01536769
24 Chronic Rhinosinusitis in a Danish Population: Evaluation of Causes of Disease, Progress and Treatment Completed NCT01402349
25 Does Olfactory Training Improve Olfaction in a Population With Normal Sense of Smell? Recruiting NCT02980718 Not Applicable
26 Legionnaires' Effect on Smell Recruiting NCT03321786
27 In-clinic Endoscopic Polypectomy for Chronic Sinusitis With Nasal Polyps Recruiting NCT02975310 Not Applicable
28 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
29 Cohort Study to Identify Predictor Factors of Onset and Progression of Parkinson's Disease Recruiting NCT02305147
30 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
31 Clinical Study of a Single Ciliopathy: Alström Syndrome Recruiting NCT02890550
32 Biomarkers of Risk of Parkinson Disease Active, not recruiting NCT00775853
33 Determinants of Olfactory Dysfunction in Chronic Rhinosinusitis Enrolling by invitation NCT02720653
34 Olfactory Training in Chronic Rhinosinusitis Not yet recruiting NCT03055572 Not Applicable
35 Prediction of Dementia in Parkinson's Disease by Measuring Cerebral Metabolism With PET Scan Not yet recruiting NCT02855021 Not Applicable
36 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders Terminated NCT01165619

Search NIH Clinical Center for Anosmia

Genetic Tests for Anosmia

Genetic tests related to Anosmia:

# Genetic test Affiliating Genes
1 Anosmia 29

Anatomical Context for Anosmia

MalaCards organs/tissues related to Anosmia:

41
Temporal Lobe, Brain, Testes, Olfactory Bulb, Skin, Cortex

Publications for Anosmia

Articles related to Anosmia:

(show top 50) (show all 101)
# Title Authors Year
1
Anosmia after Caudal Epidural Steroid Injection. ( 29628602 )
2018
2
The incidence of anosmia after traumatic brain injury: the SHEFBIT cohort. ( 29874472 )
2018
3
Anosmia and nasal obstruction. ( 29598899 )
2018
4
Transient Anosmia Induces Depressive-like and Anxiolytic-like Behavior and Reduces Amygdalar Corticotropin-Releasing Hormone in a ZnSO4-induced Mouse Model. ( 29438489 )
2018
5
A case of anosmia and hypogeusia as a complication of propofol. ( 29476257 )
2018
6
Circadian anosmia: A rare clinical presentation. ( 29399795 )
2018
7
Anosmia ( 29489163 )
2018
8
Pediatric anosmia: A case series. ( 29859575 )
2018
9
The effect of olfactory training on the odor threshold in patients with traumatic anosmia. ( 28859708 )
2017
10
Can oxygen anosmia extend lifespan? ( 29190215 )
2017
11
Effects of ZnSO<sub>4</sub>-induced peripheral anosmia on zebrafish behavior and physiology. ( 27993691 )
2017
12
Next-generation sequencing of patients with congenital anosmia. ( 29255181 )
2017
13
Isolated Congenital Anosmia and CNGA2 Mutation. ( 28572688 )
2017
14
The Prevalence of Anosmia and Associated Factors Among U.S. Black and White Older Adults. ( 28498937 )
2017
15
Anosmia impairs homing orientation but not foraging behaviour in free-ranging shearwaters. ( 28851985 )
2017
16
The effectiveness of platelet-rich plasma in an anosmia-induced mice model. ( 29243256 )
2017
17
Clinical Reasoning: A 57-year-old man with unilateral anosmia, papilledema, and meningismus. ( 28827465 )
2017
18
Olfactory Modifications in a Migraine Patient With Anosmia. ( 28444944 )
2017
19
Self-esteem as an important factor in quality of life and depressive symptoms in anosmia: A pilot study. ( 28236363 )
2017
20
Anosmia: Differential diagnosis, evaluation, and management. ( 28234141 )
2017
21
Anosmia and Ageusia in Parkinson's Disease. ( 28802932 )
2017
22
Anosmia treatment by platelet rich plasma injection. ( 28452719 )
2017
23
Role of diffusion tensor imaging in the diagnosis and management of post-traumatic anosmia. ( 28816545 )
2017
24
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
25
Anosmia-A Clinical Review. ( 28531300 )
2017
26
A role for TENM1 mutations in congenital general anosmia. ( 27040985 )
2016
27
Post-traumatic anosmia in patients with mild traumatic brain injury (mTBI): A systematic and illustrated review. ( 27213113 )
2016
28
Sniffing out significant &amp;quot;Pee values&amp;quot;: genome wide association study of asparagus anosmia. ( 27965198 )
2016
29
The first mutation in CNGA2 in two brothers with anosmia. ( 25156905 )
2015
30
GnRH, anosmia and hypogonadotropic hypogonadism - where are we? ( 25306902 )
2014
31
Anosmia and hypogeusia in Churg-Strauss syndrome. ( 24825557 )
2014
32
Brain structure is changed in congenital anosmia. ( 23927902 )
2013
33
[Isolated congenital anosmia--clinical and daily life aspects of a life without a sense of smell]. ( 23184504 )
2013
34
Progressive sensorineural hearing loss, ataxia and anosmia as manifestation of superficial siderosis in post traumatic brain injury. ( 23053836 )
2013
35
Does the presence of posttraumatic anosmia mean that you will be disinhibited? ( 23432111 )
2013
36
Persistent anosmia in a traumatic brain injury patient: role of orbitofrontal cortex. ( 24088167 )
2013
37
Gray matter alteration in isolated congenital anosmia patient: a voxel-based morphometry study. ( 23765063 )
2013
38
PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency. ( 23082007 )
2013
39
Isolated and syndromic forms of congenital anosmia. ( 21895637 )
2012
40
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. ( 21441906 )
2011
41
Acute superficial sensory neuropathy with generalized anhidrosis, anosmia, and ageusia. ( 21254097 )
2011
42
The depth of the olfactory sulcus is an indicator of congenital anosmia. ( 21868619 )
2011
43
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. ( 20884005 )
2011
44
Anosmia leads to a loss of gray matter in cortical brain areas. ( 20231262 )
2010
45
Diagnosis and clinical characteristics of congenital anosmia: case series report. ( 21144370 )
2010
46
[Relationship between the regional cerebral blood flow and the cognitive function and anosmia in patients with Parkinson disease and Alzheimer disease]. ( 19526836 )
2009
47
[Case of anosmia which appeared after anaphylactic shock due to intravenous heparin]. ( 19702217 )
2009
48
Re: 12 minute consultation on anosmia--hereditary anosmia and Kallmann syndrome. ( 19531190 )
2009
49
Anosmia associated with hearing loss and benign positional vertigo after head trauma. ( 20162029 )
2009
50
[Olfactory event-related functional magnetic resonance imaging in young adults with normal sense of smell and anosmia patients]. ( 18956636 )
2008

Variations for Anosmia

ClinVar genetic disease variations for Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(7;12)(q21.13;q24)dn Translocation Uncertain significance
2 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh38 Chromosome 18, 2694687: 2694687
3 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh37 Chromosome 18, 2694685: 2694685
4 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh38 Chromosome 18, 2697898: 2697898
5 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh37 Chromosome 18, 2697896: 2697896

Expression for Anosmia

Search GEO for disease gene expression data for Anosmia.

Pathways for Anosmia

GO Terms for Anosmia

Biological processes related to Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.46 FEZF1 FGF17 FGFR1 SPRY4
2 neuron migration GO:0001764 9.37 FEZF1 FGFR1
3 phosphatidylinositol phosphorylation GO:0046854 9.32 FGF17 FGFR1
4 positive regulation of neuron differentiation GO:0045666 9.26 FEZF1 FGFR1
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 FGF17 FGFR1
6 fibroblast growth factor receptor signaling pathway GO:0008543 8.8 ANOS1 FGF17 FGFR1

Molecular functions related to Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 FGF17 FGFR1
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 FGF17 FGFR1

Sources for Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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