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 FGFR1 signaling and FGFR1 mutant receptor activation. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and olfactory bulb, 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 94)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.7 FEZF1 FGF17 FGFR1 PROKR2 SPRY4
2 kallmann syndrome 31.8 ANOS1 FEZF1 FGF17 FGFR1 PROKR2 SPRY4
3 hypogonadism 30.2 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
4 hypogonadotropic hypogonadism 30.0 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
5 charge syndrome 29.5 ANOS1 FGFR1 PROKR2
6 anosmia, isolated congenital 12.5
7 hypogonadotropic hypogonadism 1 with or without anosmia 12.4
8 hypogonadotropic hypogonadism 10 with or without anosmia 12.4
9 hypogonadotropic hypogonadism 21 with or without anosmia 12.4
10 hypogonadotropic hypogonadism 8 with or without anosmia 12.4
11 hypogonadotropic hypogonadism 11 with or without anosmia 12.4
12 hypogonadotropic hypogonadism 12 with or without anosmia 12.4
13 hypogonadotropic hypogonadism 13 with or without anosmia 12.4
14 hypogonadotropic hypogonadism 15 with or without anosmia 12.4
15 hypogonadotropic hypogonadism 16 with or without anosmia 12.4
16 hypogonadotropic hypogonadism 20 with or without anosmia 12.4
17 hypogonadotropic hypogonadism 4 with or without anosmia 12.4
18 hypogonadotropic hypogonadism 9 with or without anosmia 12.4
19 hypogonadotropic hypogonadism 14 with or without anosmia 12.4
20 hypogonadotropic hypogonadism 17 with or without anosmia 12.4
21 hypogonadotropic hypogonadism 19 with or without anosmia 12.4
22 hypogonadotropic hypogonadism 22 with or without anosmia 12.4
23 hypogonadotropic hypogonadism 3 with or without anosmia 12.4
24 hypogonadotropic hypogonadism 5 with or without anosmia 12.4
25 hypogonadotropic hypogonadism 18 with or without anosmia 12.4
26 hypogonadotropic hypogonadism 6 with or without anosmia 12.4
27 hypogonadotropic hypogonadism 2 with or without anosmia 12.4
28 hypogonadotropic hypogonadism 23 without anosmia 12.3
29 hypogonadotropic hypogonadism 24 without anosmia 12.2
30 anosmia for isobutyric acid 11.9
31 anosmia for butyl mercaptan 11.9
32 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 11.9
33 hypogonadotropic hypogonadism without anosmia, x-linked 11.9
34 johnson neuroectodermal syndrome 11.7
35 neuropathy, hereditary sensory and autonomic, type v 11.3
36 refsum disease, classic 11.2
37 waardenburg syndrome, type 2e 11.2
38 bardet-biedl syndrome 4 10.9
39 body mass index quantitative trait locus 19 10.9
40 olfactory nerve disease 10.9
41 septo-optic dysplasia spectrum 10.9
42 brain injury 10.3
43 traumatic brain injury 10.3
44 ichthyosis 10.2
45 neuropathy 10.2
46 head injury 10.2
47 alzheimer disease 10.1
48 parkinson disease, late-onset 10.1
49 ichthyosis, x-linked 10.1
50 anxiety 10.1

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 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Fluticasone Approved, Experimental Phase 4,Not Applicable 90566-53-3 62924
6
Budesonide Approved Phase 4,Phase 3,Phase 2 51333-22-3 63006 5281004
7
Clarithromycin Approved Phase 4,Not Applicable 81103-11-9 84029
8
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
9
mometasone furoate Approved, Vet_approved Phase 4,Phase 3,Phase 2 83919-23-7
10
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Dermatologic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Protective Agents Phase 4,Phase 3,Phase 2,Early Phase 1
15 Antineoplastic Agents, Hormonal Phase 4,Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
17 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
18 Respiratory System Agents Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
19 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
21 Bronchodilator Agents Phase 4,Phase 3,Phase 2,Not Applicable
22 Prednisolone acetate Phase 4
23 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
24 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
25 Anti-Allergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
26 Antiemetics Phase 4,Phase 2
27 Neuroprotective Agents Phase 4
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
29 Methylprednisolone acetate Phase 4
30 Gastrointestinal Agents Phase 4,Phase 2
31 Anti-Bacterial Agents Phase 4,Not Applicable
32 Anti-Infective Agents Phase 4,Phase 3,Early Phase 1,Not Applicable
33 penicillins Phase 4
34 beta-Lactamase Inhibitors Phase 4
35 Amoxicillin-Potassium Clavulanate Combination Phase 4
36 Clavulanic Acids Phase 4
37 Antibiotics, Antitubercular Phase 4
38 Histamine H1 Antagonists Phase 4
39 Histamine Antagonists Phase 4
40
Acetylcysteine Approved, Investigational Phase 3,Early Phase 1 616-91-1 12035
41
Omalizumab Approved, Investigational Phase 3 242138-07-4
42 Pharmaceutical Solutions Phase 2, Phase 3,Phase 3
43 Antibodies Phase 3,Phase 2
44 Antibodies, Monoclonal Phase 3,Phase 2
45 Immunologic Factors Phase 3,Phase 2
46 Immunoglobulins Phase 3,Phase 2
47 Antiviral Agents Phase 3,Early Phase 1
48 Antioxidants Phase 3,Phase 2,Early Phase 1
49 Free Radical Scavengers Phase 3,Early Phase 1
50 Expectorants Phase 3,Early Phase 1

Interventional clinical trials:

(show all 47)
# 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
3 Corticosteroid Therapy for Chronic Rhinosinusitis Without Nasal Polyps (CRSsNP) Terminated NCT01676415 Phase 4 Prednisone;Topical mometasone
4 Efficacy and Safety of Budesonide Inhalation Suspension for the Treatment of Chronic Rhinosinusitis With Polyposis. Completed NCT03687515 Phase 3 budesonide;budesonide;Prednisone
5 Effects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps Completed NCT02024659 Phase 2, Phase 3 budesonide
6 A Controlled Clinical Study of Dupilumab in Patients With Nasal Polyps Completed NCT02912468 Phase 3 Dupilumab SAR231893 (REGN668);Placebo;Mometasone furoate nasal spray
7 Controlled Clinical Study of Dupilumab in Patients With Nasal Polyps Completed NCT02898454 Phase 3 Dupilumab SAR231893 (REGN668);Placebo;Mometasone furoate nasal spray
8 NAC for Head Trauma-induced Anosmia Recruiting NCT03680911 Phase 3 N Acetyl Cysteine;Placebo oral capsule
9 Effect of Mepolizumab in Severe Bilateral Nasal Polyps Recruiting NCT03085797 Phase 3 Mepolizumab;Placebo;Mometasone furoate
10 An Extension Study of Omalizumab in Participants With Chronic Rhinosinusitis With Nasal Polyps Recruiting NCT03478930 Phase 3 Omalizumab;Placebo
11 Study Evaluating the Efficacy and Safety of Intranasal Administration of OPN-375 in Subjects With Chronic Sinusitis With or Without the Presence of Nasal Polyps Recruiting NCT03781804 Phase 3 OPN-375
12 OPN-375 Efficacy and Safety in Adolescents With Bilateral Nasal Polyps Recruiting NCT03747458 Phase 3 OPN-375
13 Efficacy & Safety of OPN-375 Adults With Bilateral Nasal Polyps Using Nasoendoscopic Video Active, not recruiting NCT03591068 Phase 3 OPN-375
14 Effects of Mepolizumab Compared to Placebo on Airway Physiology in Patients With Eosinophilic Asthma: MEMORY Study Terminated NCT02594332 Phase 3 Mepolizumab;Placebo
15 Study of Dexpramipexole Chronic Sinusitis With Nasal Polyps and Eosinophilia Completed NCT02217332 Phase 2 dexpramipexole
16 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
17 Mepolizumab in Nasal Polyposis Completed NCT01362244 Phase 2 Mepolizumab;Placebo;Run In Medication
18 A Study to Evaluate the Effect of ACT-774312 in Subjects With Bilateral Nasal Polyposis Recruiting NCT03688555 Phase 2 ACT-774312;Placebo
19 Adrenergic Blockers for Cardiac Changes in Early Parkinson's Disease Not yet recruiting NCT03775096 Phase 2 Carvedilol
20 An Open-Label, Safety and Tolerability Study of Chronic Intermittent Use of Diazepam Nasal Spray. Terminated NCT02316847 Phase 2 diazepam nasal spray
21 Trial of Directed High-dose Nasal Steroids on Residual Smell Loss in Sinus Patients After Sinus Surgery Withdrawn NCT01814618 Phase 2 Budesonide Respules
22 Study of the Fecal Microbiome in Patients With Parkinson's Disease Not yet recruiting NCT03671785 Phase 1 PRIM-DJ2727;Placebo oral capsule
23 Does Cardiopulmonary Bypass Change Olfaction? Unknown status NCT02179554
24 Sertraline vs. Placebo for Symptoms Following Traumatic Brain Injury Unknown status NCT00208585 Not Applicable sertraline
25 Coblation in Endoscopic Sinus Surgery Unknown status NCT01793987 Not Applicable
26 Exploring the Relationship Between Alpha-synucleinopathy Related Non-motor Symptom and Post-op. Delirium in Elderly Patients With Spine Surgery Unknown status NCT02550626
27 Evaluation of a Combined Parent-student Programme for Smoking Prevention in Berlin Schools Unknown status NCT01306552 Not Applicable
28 Clinical Study of a Single Ciliopathy: Alström Syndrome Unknown status NCT02890550
29 NAC Trial for Anosmia Completed NCT02481609 Early Phase 1 N-acetyl cysteine (NAC)
30 Experiments to Test How and Why the Sense of Smell Differs Between People Completed NCT00220038
31 Study to Compare Resection Versus Preservation of the Middle Turbinate in Surgery for Nasal Polyps Completed NCT02855931 Not Applicable
32 Is Pentoxifylline Able to Improve Olfactory Sensitivity? Completed NCT00660868 Pentoxifylline retard 400mg
33 Intestinal and Nasal Microbiota of Patients With Idiopathic Parkinson's Disease Completed NCT01536769
34 Chronic Rhinosinusitis in a Danish Population: Evaluation of Causes of Disease, Progress and Treatment Completed NCT01402349
35 Efficacy of Macrolide and Glucocorticoid in the Treatment of Chronic Rhinosinusitis After Endoscopic Sinus Surgery Completed NCT02182492 Not Applicable Clarithromycin;Glucocorticoid
36 Evaluation of Neurotoxic Effect of Sevoflurane‑Based AnaesthesiaGuided by Short‑Term Olfactory Identification Completed NCT03726580 Sevoflurane
37 Does Olfactory Training Improve Olfaction in a Population With Normal Sense of Smell? Recruiting NCT02980718 Not Applicable
38 Legionnaires' Effect on Smell Recruiting NCT03321786
39 In-clinic Endoscopic Polypectomy for Chronic Sinusitis With Nasal Polyps Recruiting NCT02975310 Not Applicable
40 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
41 Cohort Study to Identify Predictor Factors of Onset and Progression of Parkinson's Disease Recruiting NCT02305147
42 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
43 Biomarkers of Risk of Parkinson Disease Active, not recruiting NCT00775853
44 Determinants of Olfactory Dysfunction in Chronic Rhinosinusitis Enrolling by invitation NCT02720653
45 Olfactory Training in Chronic Rhinosinusitis Not yet recruiting NCT03055572 Not Applicable
46 Prediction of Dementia in Parkinson's Disease by Measuring Cerebral Metabolism With PET Scan Not yet recruiting NCT02855021 Not Applicable
47 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, Olfactory Bulb, Testes, Pituitary, Cortex, Cerebellum

Publications for Anosmia

Articles related to Anosmia:

(show top 50) (show all 373)
# 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
Functional MRI as an Objective Measure of Olfaction Deficit in Patients with Traumatic Anosmia. ( 30409849 )
2018
10
Anosmia as the initial presentation of neurosarcoidosis. ( 30478068 )
2018
11
The effect of olfactory training on the odor threshold in patients with traumatic anosmia. ( 28859708 )
2017
12
Can oxygen anosmia extend lifespan? ( 29190215 )
2017
13
Effects of ZnSO<sub>4</sub>-induced peripheral anosmia on zebrafish behavior and physiology. ( 27993691 )
2017
14
Next-generation sequencing of patients with congenital anosmia. ( 29255181 )
2017
15
Isolated Congenital Anosmia and CNGA2 Mutation. ( 28572688 )
2017
16
The Prevalence of Anosmia and Associated Factors Among U.S. Black and White Older Adults. ( 28498937 )
2017
17
Anosmia impairs homing orientation but not foraging behaviour in free-ranging shearwaters. ( 28851985 )
2017
18
The effectiveness of platelet-rich plasma in an anosmia-induced mice model. ( 29243256 )
2017
19
Clinical Reasoning: A 57-year-old man with unilateral anosmia, papilledema, and meningismus. ( 28827465 )
2017
20
Olfactory Modifications in a Migraine Patient With Anosmia. ( 28444944 )
2017
21
Self-esteem as an important factor in quality of life and depressive symptoms in anosmia: A pilot study. ( 28236363 )
2017
22
Anosmia: Differential diagnosis, evaluation, and management. ( 28234141 )
2017
23
Anosmia and Ageusia in Parkinson's Disease. ( 28802932 )
2017
24
Anosmia treatment by platelet rich plasma injection. ( 28452719 )
2017
25
Role of diffusion tensor imaging in the diagnosis and management of post-traumatic anosmia. ( 28816545 )
2017
26
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
27
Anosmia-A Clinical Review. ( 28531300 )
2017
28
Congenital anosmia: our experience of eleven patients with aplasia or hypoplasia of the olfactory tract. ( 27863011 )
2017
29
A role for TENM1 mutations in congenital general anosmia. ( 27040985 )
2016
30
Post-traumatic anosmia in patients with mild traumatic brain injury (mTBI): A systematic and illustrated review. ( 27213113 )
2016
31
Sniffing out significant &amp;quot;Pee values&amp;quot;: genome wide association study of asparagus anosmia. ( 27965198 )
2016
32
Rapidly fluctuating anosmia: A clinical sign for unilateral smell impairment. ( 26153195 )
2016
33
Anosmia and olfactory outcomes following paediatric traumatic brain injury. ( 26618224 )
2016
34
Diminished Smell in a Teenaged Girl. Isolated anosmia. ( 26633833 )
2016
35
Chronic anosmia induces depressive behavior and reduced anxiety via dysregulation of glucocorticoid receptor and corticotropin-releasing hormone in a mouse model. ( 26697778 )
2016
36
The smell of "anxiety": Behavioral modulation by experimental anosmia in zebrafish. ( 26821184 )
2016
37
Persistent anosmia and olfactory bulb atrophy after mulga (Pseudechis australis) snakebite. ( 26896910 )
2016
38
Ocular myasthenia gravis accompanied by anosmia. ( 26946629 )
2016
39
Heritable genome editing with CRISPR/Cas9 induces anosmia in a crop pest moth. ( 27403935 )
2016
40
Delayed activation of the primary orbitofrontal cortex in post-traumatic anosmia. ( 27564536 )
2016
41
The Phospholipase D2 Knock Out Mouse Has Ectopic Purkinje Cells and Suffers from Early Adult-Onset Anosmia. ( 27658289 )
2016
42
A case of congenital anosmia. ( 27895246 )
2016
43
The first mutation in CNGA2 in two brothers with anosmia. ( 25156905 )
2015
44
Evaluation of post-traumatic anosmia with MRI and chemosensory ERPs. ( 25253545 )
2015
45
Chemoresponsiveness and breath physiology in anosmia. ( 25310952 )
2015
46
Rhinitis-induced anosmia leads to the disappearance of olfactory-triggered migraine attacks. ( 25653309 )
2015
47
Medical treatment of traumatic anosmia. ( 25715353 )
2015
48
Congenital anosmia and emotion recognition: A case-control study. ( 25921869 )
2015
49
SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient. ( 26292973 )
2015
50
Otolaryngology: Medical Treatment of Traumatic Anosmia. ( 26358356 )
2015

Variations for Anosmia

ClinVar genetic disease variations for Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh38 Chromosome 18, 2694687: 2694687
2 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh37 Chromosome 18, 2694685: 2694685
3 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh38 Chromosome 18, 2697898: 2697898
4 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.

GO Terms for Anosmia

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.32 FGF17 FGFR1
2 neuron migration GO:0001764 9.26 FEZF1 FGFR1
3 positive regulation of neuron differentiation GO:0045666 9.16 FEZF1 FGFR1
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 FGF17 FGFR1
5 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
Content
Loading form....