ESCS
MCID: ENH001
MIFTS: 58

Enhanced S-Cone Syndrome (ESCS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

MalaCards integrated aliases for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 57 12 20 58 36 29 13 54 6 44 15 70
Goldmann-Favre Syndrome 20 58 36 29 6 70
Escs 57 72
Retinoschisis with Early Hemeralopia 20
Favre Hyaloideoretinal Degeneration 20
Retinoschisis with Early Nyctalopia 58
S-Cone Syndrome, Enhanced 39
Enhanced S Cone Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0090059
OMIM® 57 268100
MeSH 44 C564835
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0339541 C1849394
Orphanet 58 ORPHA53540
UMLS 70 C0339541 C1849394

Summaries for Enhanced S-Cone Syndrome

GARD : 20 Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye ( retina ). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion. Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A.

MalaCards based summary : Enhanced S-Cone Syndrome, also known as goldmann-favre syndrome, is related to yemenite deaf-blind hypopigmentation syndrome and retinitis pigmentosa 37. An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Nuclear Receptor transcription pathway. The drugs Ticlopidine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are cataract and nyctalopia

Disease Ontology : 12 A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.

KEGG : 36 Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.

UniProtKB/Swiss-Prot : 72 Enhanced S cone syndrome: Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.

More information from OMIM: 268100

Related Diseases for Enhanced S-Cone Syndrome

Diseases related to Enhanced S-Cone Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 31.0 RPE65 RHO
2 retinitis pigmentosa 37 30.9 NR2E3 NR2E1
3 night blindness 30.9 RPE65 RHO NRL NR2E3 GRK7 GRK1
4 oguchi disease 30.6 RHO GRK1
5 gyrate atrophy of choroid and retina 30.3 RPE65 ROM1 RHO
6 hereditary retinal dystrophy 30.2 RPE65 RHO IMPG2 CRX
7 oguchi disease 1 30.1 RGS9BP GRK7 GRK1 ARR3
8 retinoschisis 1, x-linked, juvenile 30.0 RPE65 RHO NRL NR2E3 GRK1 GNAT2
9 retinal degeneration 29.9 RPE65 RORB ROM1 RHO NRL NR2E3
10 pathologic nystagmus 29.6 RPE65 RHO OTX2 GNAT2 CRX CNGB3
11 retinal disease 29.3 RPE65 ROM1 RHO NRL NR2E3 IMPG2
12 eye disease 29.1 RPE65 ROM1 RHO NRL NR2E3 IMPG2
13 retinitis pigmentosa 28.4 RPE65 RORB ROM1 RHO RGS9BP OTX2
14 macular degeneration, age-related, 1 28.4 RPE65 ROM1 RHO OTX2 NRL NR2E3
15 fundus dystrophy 28.2 RPE65 ROM1 RHO RGS9BP OTX2 NRL
16 leber plus disease 28.0 RPE65 ROM1 RHO RGS9BP OTX2 NRL
17 vitreoretinal degeneration 11.3
18 neuroretinitis 10.4
19 retinitis 10.4
20 color vision deficiency 10.3 NR2E3 CNGA3
21 partial central choroid dystrophy 10.3 ROM1 CRX
22 hereditary choroidal atrophy 10.3 ROM1 CRX
23 acquired night blindness 10.3 RGS9BP NR2E3
24 patterned macular dystrophy 10.3 ROM1 RHO NR2E3
25 butterfly-shaped pigment dystrophy 10.3 ROM1 OTX2
26 macular retinal edema 10.3
27 inherited retinal disorder 10.3
28 abnormal threshold of rods 10.2 RGS9BP GRK1
29 macular dystrophy, dominant cystoid 10.2 RPE65 RHO NR2E3
30 solar retinopathy 10.2 RHO IMPG2
31 macular degeneration, age-related, 7 10.2 RPE65 OTX2 NRL
32 oligocone trichromacy 10.2 GNAT2 CNGB3 CNGA3
33 retinitis pigmentosa 39 10.2 RGS9BP GRK7 GNAT2
34 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
35 cone-rod dystrophy 8 10.2 GNAT2 CNGB3 CNGA3
36 achromatopsia 7 10.2 GNAT2 CNGB3 CNGA3
37 pattern dystrophy 10.2 ROM1 RHO OTX2 CRX
38 leber congenital amaurosis 8 10.2 RPE65 CRX
39 tritanopia 10.2 GNAT2 CNGB3 CNGA3
40 chorioretinal scar 10.2 RHO IMPG2
41 macular holes 10.2
42 cataract 10.2
43 vcan-related vitreoretinopathy 10.2
44 juvenile retinoschisis 10.2
45 degeneration of macula and posterior pole 10.2 RPE65 RHO CRX
46 achromatopsia 3 10.2 GNAT2 CNGB3 CNGA3
47 vitreous disease 10.1 RPE65 RHO OTX2
48 jalili syndrome 10.1 GNAT2 CNGB3 CNGA3
49 choroidal dystrophy, central areolar, 1 10.1 RPE65 ROM1 NR2E3 CRX
50 leber congenital amaurosis 9 10.1 RPE65 CRX

Graphical network of the top 20 diseases related to Enhanced S-Cone Syndrome:



Diseases related to Enhanced S-Cone Syndrome

Symptoms & Phenotypes for Enhanced S-Cone Syndrome

Human phenotypes related to Enhanced S-Cone Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 nyctalopia 31 HP:0000662
3 retinoschisis 31 HP:0030502
4 pigmentary retinopathy 31 HP:0000580
5 edema 31 HP:0000969
6 macular edema 31 HP:0040049
7 vitreoretinopathy 31 HP:0007773
8 hemeralopia 31 HP:0012047
9 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract
retinoschisis
vitreoretinal degeneration
macular edema
hemeralopia
more

Clinical features from OMIM®:

268100 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.6 GRK1
2 Decreased viability GR00240-S-1 9.6 DHX30 RGS9BP
3 Decreased viability GR00249-S 9.6 CRX GRK7 RGS9BP
4 Decreased viability GR00301-A 9.6 GRK1
5 Decreased viability GR00342-S-1 9.6 GRK1
6 Decreased viability GR00342-S-2 9.6 GRK1
7 Decreased viability GR00386-A-1 9.6 CRX GNAT2 OTX2 RGS9BP RORB
8 Decreased viability GR00402-S-2 9.6 GRK1 NR1D1 RHO ROM1 THRB

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 CNGA3 CNGB3 CRX DHX30 GNAT2 GRK1
2 vision/eye MP:0005391 9.58 ARR3 CNGA3 CNGB3 CRX GNAT2 GRK1
3 pigmentation MP:0001186 9.35 CRX NRL OTX2 RHO RPE65

Drugs & Therapeutics for Enhanced S-Cone Syndrome

Drugs for Enhanced S-Cone Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticlopidine Approved Phase 4 55142-85-3 5472
2
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
5
Ethanol Approved Phase 4 64-17-5 702
6
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
7
Lithium carbonate Approved Phase 4 554-13-2
8
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
9
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
10
Sertraline Approved Phase 4 79617-96-2 68617
11
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
12
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
13
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
14
tannic acid Approved Phase 4 1401-55-4
15
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
16
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
17
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
18
Dexetimide Withdrawn Phase 4 21888-98-2
19 Hypoglycemic Agents Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Angiotensin Receptor Antagonists Phase 4
22 Giapreza Phase 4
23 Angiotensinogen Phase 4
24 Cyclooxygenase 2 Inhibitors Phase 4
25 Antidepressive Agents Phase 4
26 Psychotropic Drugs Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Serotonin Uptake Inhibitors Phase 4
29 Antihypertensive Agents Phase 4
30 Angiotensin II Type 1 Receptor Blockers Phase 4
31 Adrenergic Antagonists Phase 4
32 Adrenergic Agents Phase 4
33 Adrenergic alpha-Antagonists Phase 4
34 Dopamine Agents Phase 4
35 Quetiapine Fumarate Phase 4 111974-72-2
36 Venlafaxine Hydrochloride Phase 4
37 Dopamine Antagonists Phase 4
38 Serotonin 5-HT1 Receptor Agonists Phase 4
39 Dopamine Uptake Inhibitors Phase 4
40 Serotonin Receptor Agonists Phase 4
41 Serotonin 5-HT3 Receptor Antagonists Phase 4
42 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
43 Histamine Antagonists Phase 4
44
Histamine Phosphate Phase 4 51-74-1 65513
45 Dopamine agonists Phase 4
46 Histamine H1 Antagonists Phase 4
47 Antipsychotic Agents Phase 4
48 Anti-Anxiety Agents Phase 4
49 LCZ 696 Phase 4
50
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Endovascular Treatment Versus Optimal Medical Treatment of Atherosclerotic Renal Artery for Preserving Renal Function of the Ischemic Kidney. Unknown status NCT01208714 Phase 4 Optimal medical therapy
2 Cyclooxygenase-2-Inhibitor Combination Treatment for Bipolar Depression: Role of Inflammation and Kynurenine Pathway Biomarkers Completed NCT01479829 Phase 4 ESC + CBX;ESC + PBO.;ESC+CBX
3 Falls and Cardiovascular Events in Elderly Patients With Sinus Node Disease Treated With a MVPTM Pacemaker According to the ESC 2007 Guidelines Completed NCT01037426 Phase 4
4 Catheter Cryoablation Versus Antiarrhythmic Drug as First-Line Therapy of Paroxysmal Atrial Fibrillation. Completed NCT01803438 Phase 4 Antiarrhythmic Drugs
5 Treating Caregiver Depression to Improve Childhood Asthma: Impact and Mediators Completed NCT02809677 Phase 4 Escitalopram;Venlafaxine XR;Bupropion XR;Sertraline;Mirtazapine;Buspirone;Quetiapine;Aripiprazole;Lithium
6 Early Therapy of Atrial Fibrillation for Stroke Prevention Trial (EAST). Completed NCT01288352 Phase 4
7 Catheter Ablation Versus Standard Conventional Treatment in Patients With Left Ventricular Dysfunction and Atrial Fibrillation Completed NCT00643188 Phase 4
8 Evaluation in Real Life Conditions of Sacubitril-valsartan Combination in Patients With Chronic Heart Failure and Sleep Apnea Syndrome Completed NCT02916160 Phase 4 SACUBITRIL - VALSARTAN (formerly LCZ696, ENTRESTO®)
9 Prospective, Multi-centre, Randomized, Parallel Comparison to Evaluate the Safety and Efficacy of the Abluminal Sirolimus Coated Bio-engineered Stent (COMBO Stent) in Association With Short-term Single Antiplatelet Therapy in Patients With Coronary Artery Disease With an Indication for Chronic Oral Anticoagulant Therapy as Compared to a Guidelines-based Strategy Withdrawn NCT02723981 Phase 4 Clopidogrel, Vitamin K Antagonist, Rivaroxaban, Dabigatran;ASA, Clopidogrel, Vitamin K Antagonist, Rivaroxaban, Dabigatran
10 Is There a Benefit to Optimize HF (Heart Failure) Treatment in Aged Over 80 Year's Old Patients? Completed NCT01437371 Phase 3 - Angiotensin conversing enzyme inhibitors: enalapril, captopril, lisinopril, ramipril, trandolapril.
11 Secondary Prevention of Cardiovascular Disease in the Elderly Trial Recruiting NCT02596126 Phase 3 Cardiovascular Polypill;Treatment Prevention for Secondary CV
12 Beta-blocker Therapy in Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01246037 Phase 1, Phase 2 Bisoprolol
13 2-Weekly CHOP Chemotherapy With Dose-Dense Rituximab for the Treatment of Patients Aged 61 to 80 Years With Aggressive CD-20 Positive B-Cell Lymphomas: A Phase-II/Pharmacokinetic Study (CHOP-R-ESC) Completed NCT00290667 Phase 2 cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
14 Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
15 Phase 1 Dose Esc Study of Safety and Immun of 3 Injections, Given at 0, 6 and 24 Wks, of Grp B Meningococcal 44/76 MOS NOMV 5D Vaccine Admin to Healthy Subjs IM With and Without Adjuvant Completed NCT00248833 Phase 1
16 A Ph I/IIa Rand Placebo Ctrl, S-Blind Multictr Dose-Esc Study of SC Intermittent Interleukin-7 CYT107 in Chronically HIV-Infected Pts With CD4 T Lymphocyte Counts 101-400 Cells-/mm(3) and Plasma HIV RNA Less Than 50 Copies/mL After at Least 12 M of HAART Completed NCT00477321 Phase 1 CYT 107
17 A Study to Investigate the Effect of Multiple Doses of Danoprevir/Ritonavir (DNV/RTV) on the Pharmacokinetics (PK) of Escitalopram (ESC) and S-Demethylcitalopram (S-DCT) in Healthy Subjects Completed NCT01418274 Phase 1 danoprevir;escitalopram;ritonavir
18 Comparison of Treatment and Doses of Drugs in Patient With Heart Failure Reduced Ejection Fraction (HFREF) Between Asyut University Hospital and Guidelines of European Society 0f Cardiology (ESC) Unknown status NCT03877887
19 Rhythm Control of AF in Patients With Acute Stroke Unknown status NCT02285387
20 Study to Evaluate the Use of RenalGuard to Protect Patients at High Risk of AKI (STRENGTH) Unknown status NCT02793661
21 The Effect of Strict Dietary Intervention on Atherosclerotic Lesions in Patients Diagnosed With Coronary Artery Disease, Assessed by Coronary Computed Tomography Angiography (CCTA). Unknown status NCT02571803
22 Effects of Proprioceptive Neuromuscular Facilitation Applied to the Accessory Respiratory Muscles on Functional and Electromyographic Parameters in Patients With and Without COPD Unknown status NCT03417908
23 Evaluation of Social ABCs With Attention Training Intervention for Toddlers With Autism Completed NCT03215394
24 Risk Reduction in Coronary Heart Disease - a Prospective Randomized Study Completed NCT00679237 betablocker, diuretics, ACEI, ARB,;statins, ezetimibe;metformin, glimepiride, insulin
25 Effectiveness of a Diabetes Focused Discharge Order Set Among Poorly Controlled Hospitalized Patients Transitioning to Glargine U300 Insulin Completed NCT03455985
26 Safety and Effectiveness of Drug up Titration by Nurses Specialized in Heart Failure (HF) Patients Completed NCT02546856
27 Heart Failure Educational and Follow up Platform Completed NCT02110433
28 CLINICAL EVALUATION OF REMOTE MONITORING WITH DIRECT ALERTS TO REDUCE TIME FROM EVENT TO CLINICAL DECISION. (REACT Study) Completed NCT01090349
29 Determination of Exercise Behavior in Patients With Juvenile Idiopathic Arthritis Completed NCT03731520
30 RESPECT: Observational, Prospective, Open-label, Multi-center Study Evaluating the Antihypertensive Effect of Treatment With Telmisartan (Alone or in Fixed Combination With HCTZ) in General Practitioner and Specialist Practice in Hypertensive Patients With High and Very High Cardiovascular Risk According to the ESH/ESC Guidelines 2007 Who Are Uncontrolled Under Current Treatment. Completed NCT00890084 Telmisartan or Telmisartan + Hydrochlorothiazide (HCTZ)
31 Observational Study on the Safety of Accelerated Rule-out Protocols in Patients Admitted With Chest Pain to a Crowded CPU Completed NCT03111862
32 SudoScan as a Biomarker of Parkinson's Disease Completed NCT02767037
33 A Randomised Controlled Trial in Stable Intermediate Coronary Lesions and Grey-zone FFR Values With Evaluation of the Diagnostic Utility of Invasive Coronary Physiological Indices and Quantitative Perfusion MRI. The GzFFR Study Completed NCT02425969 Optimal Medical Therapy
34 The Effect of a Nurse-driven ICT-supported Disease Management Program to Improve the Treatment of Patients With Atrial Fibrillation. Completed NCT00753259
35 Re-evaluation of Optimal Re-synchronisation Therapy in Patients With Chronic Heart Failure - An Investigator-driven, Prospective, Parallel-group, Randomised, Open, Blinded Outcome Assessment (PROBE), Multi-centre Trial Without Investigational Medical Products (Proof of Strategy Trial) Recruiting NCT03494933
36 Eating, Sleeping, Consoling for Neonatal Withdrawal (ESC-NOW): a Function-Based Assessment and Management Approach Recruiting NCT04057820
37 The Effect of Canola Oil Consumption on the Selected Cardiometabolic Parameters in a Group of Shift Workers Recruiting NCT03977558
38 Symptom-related Screening Program Following Pulmonary Embolism for Early Detection of Chronic ThromboEmbolic Pulmonary Hypertension (CTEPH) Recruiting NCT03953560
39 Sleep-Disordered Breathing in Chronic Thromboembolic Pulmonary Hypertension - a Prospective, Descriptive Cohort Study Recruiting NCT03074539 Riociguat
40 EURO SHOCK Testing the Value of Novel Strategy and Its Cost Efficacy in Order to Improve the Poor Outcomes in Cardiogenic Shock Recruiting NCT03813134
41 PeRcutaneous cOronary Intervention of Native Coronary arTery Versus Venous Bypass Graft in Patients With Prior cORonary Artery Bypass Graft Surgery - the PROCTOR Trial Recruiting NCT03805048
42 Feasibility of Endosphenoidal Coil Placement for Imaging of the Sella During Transsphenoidal Surgery Recruiting NCT03678389
43 Early Diagnosis of Acute Myocardial Infarction: Impact of an Educational and Organizational Intervention Recruiting NCT04333381
44 Long-term Outcomes of MicroNet-covered Stent Routine Use for Stroke Prevention in Symptomatic and Increased-risk Asymptomatic Carotid Stenosis Patients Requiring Revascularization by Neurovascular Team Decision: PARADIGM-EXTEND Recruiting NCT04271033
45 Pulmonary Vein Isolation With Versus Without Continued Antiarrhythmic Drug Treatment in Subjects With Persistent Atrial Fibrillation: a Prospective Multi-centre Randomized Controlled Clinical Study Recruiting NCT03437356 Antiarrhythmic drug therapy (ADT)
46 The Effect of Upper Extremity Endurance Training Applied in Addition to Lower Extremity Endurance Training on Functional Capacity and Pacemaker Functions in Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Recruiting NCT04803968
47 A Randomized Controlled Trial for Investigating a Novel Integrated Care Concept (NICC) for Patients Suffering From Chronic Cardiovascular Disease: CardioCare MV Active, not recruiting NCT03317951
48 Implementability and Health Impact of Proactive Cardiovascular Prevention Strategy in Subjects With High Genetic Risk: a Randomized Pilot Study Enrolling by invitation NCT04291157
49 Personalised Risk scOre For Implantation of Defibrillators in Patients With Preserved LVEF>35% and a High Risk for Sudden Cardiac Death (PROFID-Preserved) Not yet recruiting NCT04540289 Optimal Medical Therapy (OMT)
50 A Prospective Clinical Trial to Evaluate the Clinical Value and Cost-effectiveness of a Personalized Prevention Program in Patients With High Risk Stable Coronary Heart Disease Not yet recruiting NCT04433052

Search NIH Clinical Center for Enhanced S-Cone Syndrome

Cochrane evidence based reviews: enhanced s-cone syndrome

Genetic Tests for Enhanced S-Cone Syndrome

Genetic tests related to Enhanced S-Cone Syndrome:

# Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome 29 NR2E3
2 Goldmann-Favre Syndrome 29

Anatomical Context for Enhanced S-Cone Syndrome

MalaCards organs/tissues related to Enhanced S-Cone Syndrome:

40
Eye, Retina

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 57 61 6
10655056 2000
2
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 6 57
18294254 2008
3
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 57 6
11071390 2000
4
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 61 54 6
19898638 2009
5
Phenotypic features of patients with NR2E3 mutations. 54 61 6
19139342 2009
6
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. 6 61 54
17438525 2007
7
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 61 54 6
15689355 2005
8
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 6 61
24069298 2013
9
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 6 61
21364904 2011
10
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 61 6
19273793 2009
11
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. 61 6
18835469 2009
12
Phenotypic variation in enhanced S-cone syndrome. 61 6
18436841 2008
13
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. 61 6
16024868 2005
14
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 61 6
15459973 2004
15
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 61 6
12963616 2003
16
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. 57 61
12601058 2003
17
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. 6 61
11773633 2002
18
Giving in to the blues. 57 61
10655045 2000
19
Enhanced S cone syndrome: evidence for an abnormally large number of S cones. 57 61
7645276 1995
20
Relatively enhanced S cone function in the Goldmann-Favre syndrome. 61 57
2012146 1991
21
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
22
Macular cystoid spaces in patients with retinal dystrophy. 6
26894784 2016
23
Identifying mutations in Tunisian families with retinal dystrophy. 6
27874104 2016
24
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 6
26355662 2016
25
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
26
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. 61 20
26803827 2016
27
Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. 61 20
25663266 2015
28
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 6
25097241 2014
29
Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. 6
19823680 2009
30
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 6
19006237 2009
31
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 57
15229190 2004
32
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. 57
10805811 2000
33
Identification of a photoreceptor cell-specific nuclear receptor. 57
10220376 1999
34
SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. 57
2335450 1990
35
[Goldmann-Favre vitreo-tapeto-retinal degeneration]. 57
4546336 1974
36
Hereditary retinoschisis and early hemeralopia. A report of two cases. 57
5309737 1970
37
[Two cases of hyaloid-retinal degeneration]. 57
13553271 1958
38
Treatment of cystic macular lesions in hereditary retinal dystrophies. 20
24160730 2013
39
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. 61 54
19933183 2010
40
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. 61 54
17601449 2007
41
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 61 54
16225923 2005
42
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). 54 61
15453866 2004
43
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. 54 61
12552256 2003
44
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 61 54
12187427 2002
45
Evolution of macular hole in enhanced S-cone syndrome. 61
32815098 2021
46
Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy. 61
33604489 2021
47
Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome. 61
32941856 2021
48
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients. 61
32679203 2021
49
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies. 61
33634125 2021
50
Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models. 61
33007388 2020

Variations for Enhanced S-Cone Syndrome

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR2E3 NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) SNV Pathogenic 5529 rs104894492 GRCh37: 15:72103930-72103930
GRCh38: 15:71811590-71811590
2 NR2E3 NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del) Deletion Pathogenic 5531 rs1567159701 GRCh37: 15:72103899-72103907
GRCh38: 15:71811559-71811567
3 NRL NM_006177.5(NRL):c.91C>T (p.Arg31Ter) SNV Pathogenic 369652 rs762991211 GRCh37: 14:24551967-24551967
GRCh38: 14:24082758-24082758
4 NR2E3 NM_014249.4(NR2E3):c.747+1G>C SNV Pathogenic 812354 rs1595956702 GRCh37: 15:72104852-72104852
GRCh38: 15:71812512-71812512
5 NR2E3 NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) SNV Pathogenic 5530 rs104894493 GRCh37: 15:72103931-72103931
GRCh38: 15:71811591-71811591
6 NR2E3 NM_014249.4(NR2E3):c.481del (p.Thr161fs) Deletion Pathogenic 636047 rs759339012 GRCh37: 15:72104426-72104426
GRCh38: 15:71812086-71812086
7 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
8 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
9 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
10 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
11 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
12 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
13 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
14 NR2E3 NM_014249.4(NR2E3):c.1233G>A (p.Ter411=) SNV Pathogenic 1030312 GRCh37: 15:72110025-72110025
GRCh38: 15:71817684-71817684
15 NR2E3 NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) Deletion Likely pathogenic 551852 rs1555454566 GRCh37: 15:72103893-72103901
GRCh38: 15:71811553-71811561
16 NR2E3 NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) SNV Uncertain significance 317018 rs759765652 GRCh37: 15:72104770-72104770
GRCh38: 15:71812430-71812430
17 NR2E3 NM_014249.4(NR2E3):c.-10C>T SNV Uncertain significance 550918 rs771015928 GRCh37: 15:72103074-72103074
GRCh38: 15:71810734-71810734
18 NR2E3 NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg) SNV Uncertain significance 551741 rs777512062 GRCh37: 15:72106420-72106420
GRCh38: 15:71814079-71814079
19 NR2E3 NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) SNV Uncertain significance 551766 rs554638593 GRCh37: 15:72106356-72106356
GRCh38: 15:71814015-71814015
20 NR2E3 NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) SNV Uncertain significance 317016 rs779518180 GRCh37: 15:72104516-72104516
GRCh38: 15:71812176-71812176
21 NR2E3 NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) SNV Uncertain significance 552868 rs199564404 GRCh37: 15:72109987-72109987
GRCh38: 15:71817646-71817646
22 NR2E3 NM_014249.4(NR2E3):c.677G>A (p.Arg226His) SNV Uncertain significance 554361 rs544290323 GRCh37: 15:72104781-72104781
GRCh38: 15:71812441-71812441
23 NR2E3 NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) SNV Uncertain significance 143147 rs527236086 GRCh37: 15:72104309-72104309
GRCh38: 15:71811969-71811969
24 NR2E3 NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly) SNV Uncertain significance 554716 rs567617489 GRCh37: 15:72104469-72104469
GRCh38: 15:71812129-71812129
25 NR2E3 NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) SNV Uncertain significance 317016 rs779518180 GRCh37: 15:72104516-72104516
GRCh38: 15:71812176-71812176
26 NR2E3 NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala) SNV Uncertain significance 317019 rs769154628 GRCh37: 15:72105819-72105819
GRCh38: 15:71813479-71813479
27 NR2E3 NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) SNV Uncertain significance 317018 rs759765652 GRCh37: 15:72104770-72104770
GRCh38: 15:71812430-71812430
28 NR2E3 NM_014249.4(NR2E3):c.*453G>T SNV Uncertain significance 317027 rs886051457 GRCh37: 15:72110478-72110478
GRCh38: 15:71818137-71818137
29 NR2E3 NM_014249.4(NR2E3):c.-47C>T SNV Uncertain significance 317003 rs886051449 GRCh37: 15:72103037-72103037
GRCh38: 15:71810697-71810697
30 NR2E3 NM_014249.4(NR2E3):c.*101T>C SNV Uncertain significance 317021 rs886051453 GRCh37: 15:72110126-72110126
GRCh38: 15:71817785-71817785
31 NR2E3 NM_014249.4(NR2E3):c.-139G>T SNV Uncertain significance 317002 rs138513681 GRCh37: 15:72102945-72102945
GRCh38: 15:71810605-71810605
32 NR2E3 NM_014249.4(NR2E3):c.*144A>T SNV Uncertain significance 317022 rs886051454 GRCh37: 15:72110169-72110169
GRCh38: 15:71817828-71817828
33 NR2E3 NM_014249.4(NR2E3):c.245+9G>A SNV Uncertain significance 317006 rs538864090 GRCh37: 15:72103958-72103958
GRCh38: 15:71811618-71811618
34 NR2E3 NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg) SNV Uncertain significance 317012 rs886051452 GRCh37: 15:72104347-72104347
GRCh38: 15:71812007-71812007
35 NR2E3 NM_014249.4(NR2E3):c.*563_*566del Deletion Uncertain significance 317030 rs531918877 GRCh37: 15:72110584-72110587
GRCh38: 15:71818243-71818246
36 NR2E3 NM_014249.4(NR2E3):c.-139G>A SNV Uncertain significance 317001 rs138513681 GRCh37: 15:72102945-72102945
GRCh38: 15:71810605-71810605
37 NR2E3 NM_014249.4(NR2E3):c.*554A>C SNV Uncertain significance 317028 rs886051458 GRCh37: 15:72110579-72110579
GRCh38: 15:71818238-71818238
38 NR2E3 NM_014249.4(NR2E3):c.*197T>G SNV Uncertain significance 317023 rs779157022 GRCh37: 15:72110222-72110222
GRCh38: 15:71817881-71817881
39 NR2E3 NM_014249.4(NR2E3):c.444T>C (p.Ala148=) SNV Uncertain significance 317014 rs533192044 GRCh37: 15:72104389-72104389
GRCh38: 15:71812049-71812049
40 NR2E3 NM_014249.4(NR2E3):c.*275A>C SNV Uncertain significance 317025 rs886051455 GRCh37: 15:72110300-72110300
GRCh38: 15:71817959-71817959
41 NR2E3 NM_014249.4(NR2E3):c.572-13C>T SNV Uncertain significance 317017 rs376114936 GRCh37: 15:72104663-72104663
GRCh38: 15:71812323-71812323
42 NR2E3 NM_014249.4(NR2E3):c.349+12dup Duplication Uncertain significance 317010 rs886051451 GRCh37: 15:72104216-72104217
GRCh38: 15:71811876-71811877
43 NR2E3 NM_014249.4(NR2E3):c.321G>A (p.Lys107=) SNV Uncertain significance 317008 rs886051450 GRCh37: 15:72104181-72104181
GRCh38: 15:71811841-71811841
44 NR2E3 NM_014249.4(NR2E3):c.*340G>C SNV Uncertain significance 317026 rs886051456 GRCh37: 15:72110365-72110365
GRCh38: 15:71818024-71818024
45 NR2E3 NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg) SNV Uncertain significance 317005 rs767304567 GRCh37: 15:72103926-72103926
GRCh38: 15:71811586-71811586
46 NR2E3 NM_014249.4(NR2E3):c.*558C>A SNV Uncertain significance 317029 rs886051459 GRCh37: 15:72110583-72110583
GRCh38: 15:71818242-71818242
47 NR2E3 NM_014249.4(NR2E3):c.463C>T (p.Arg155Cys) SNV Uncertain significance 966185 GRCh37: 15:72104408-72104408
GRCh38: 15:71812068-71812068
48 NR2E3 NM_014249.4(NR2E3):c.546C>G (p.Thr182=) SNV Uncertain significance 991931 GRCh37: 15:72104491-72104491
GRCh38: 15:71812151-71812151
49 NR2E3 NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys) SNV Uncertain significance 991932 GRCh37: 15:72104768-72104768
GRCh38: 15:71812428-71812428
50 NR2E3 NM_014249.4(NR2E3):c.984C>T (p.Leu328=) SNV Uncertain significance 991933 GRCh37: 15:72105966-72105966
GRCh38: 15:71813625-71813625

UniProtKB/Swiss-Prot genetic disease variations for Enhanced S-Cone Syndrome:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Arg76Gln VAR_009266 rs104894493
2 NR2E3 p.Arg76Trp VAR_009267 rs104894492
3 NR2E3 p.Arg97His VAR_010025 rs148914970
4 NR2E3 p.Arg104Trp VAR_010026 rs990307718
5 NR2E3 p.Glu121Lys VAR_010027 rs146403122
6 NR2E3 p.Trp234Ser VAR_010031
7 NR2E3 p.Arg309Gly VAR_010033 rs774102273
8 NR2E3 p.Arg311Gln VAR_010034 rs28937873
9 NR2E3 p.Arg385Pro VAR_010035 rs766769900
10 NR2E3 p.Met407Lys VAR_010036 rs130361310
11 NR2E3 p.Gly88Val VAR_020839 rs127813791
12 NR2E3 p.Ala256Glu VAR_020840 rs377257254
13 NR2E3 p.Leu263Pro VAR_020841
14 NR2E3 p.Leu336Pro VAR_020842 rs752883545
15 NR2E3 p.Leu353Val VAR_020843

Expression for Enhanced S-Cone Syndrome

Search GEO for disease gene expression data for Enhanced S-Cone Syndrome.

Pathways for Enhanced S-Cone Syndrome

GO Terms for Enhanced S-Cone Syndrome

Cellular components related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.92 THRB RORB OTX2 NRL NR2E3 NR2E1
2 cell projection GO:0042995 9.91 ROM1 RHO NR1D1 IMPG2 GRK1 GNAT2
3 photoreceptor inner segment GO:0001917 9.58 RHO GNAT2 ARR3
4 photoreceptor disc membrane GO:0097381 9.33 RHO GRK7 GRK1
5 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3
6 photoreceptor outer segment GO:0001750 9.17 ROM1 RHO RGS9BP GRK1 GNAT2 CNGB3
7 photoreceptor outer segment membrane GO:0042622 9.13 ROM1 RHO GNAT2

Biological processes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.16 RHO NR2E3 GRK7 GRK1 GNAT2 CNGB3
2 regulation of transcription by RNA polymerase II GO:0006357 10.12 THRB RORB OTX2 NRL NR2E3 NR2E1
3 regulation of transcription, DNA-templated GO:0006355 10.11 THRB RORB OTX2 NRL NR2E3 NR2E1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 THRB RORB OTX2 NRL NR2E3 NR2E1
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.8 THRB RORB NR2E3 NR2E1 NR1D1
6 response to stimulus GO:0050896 9.8 RPE65 RORB ROM1 RHO RGS9BP NRL
7 phototransduction GO:0007602 9.67 RHO NR2E3 GNAT2
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.65 RHO GRK7 GRK1
9 intracellular receptor signaling pathway GO:0030522 9.65 THRB RORB NR2E3 NR2E1 NR1D1
10 retina development in camera-type eye GO:0060041 9.63 RPE65 RORB ROM1 RHO NR2E3 NR2E1
11 detection of light stimulus involved in visual perception GO:0050908 9.62 RPE65 ROM1 RGS9BP GNAT2
12 steroid hormone mediated signaling pathway GO:0043401 9.61 NR2E3 NR2E1 NR1D1
13 eye photoreceptor cell development GO:0042462 9.57 RORB NR2E3
14 retina morphogenesis in camera-type eye GO:0060042 9.55 RPE65 ROM1
15 rhodopsin mediated signaling pathway GO:0016056 9.54 RHO GRK1
16 retinal cone cell development GO:0046549 9.54 THRB RORB GNAT2
17 visual perception GO:0007601 9.53 RPE65 RORB ROM1 RHO RGS9BP NRL
18 retinal rod cell development GO:0046548 9.52 RORB NRL

Molecular functions related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.16 THRB RORB OTX2 NRL NR2E3 NR2E1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.05 THRB RORB OTX2 NRL NR2E1 NR1D1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.97 THRB RORB OTX2 NRL NR2E3 NR2E1
4 sequence-specific DNA binding GO:0043565 9.88 THRB RORB NR2E3 NR2E1 NR1D1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 RORB OTX2 NRL NR2E3 NR2E1 CRX
6 sequence-specific double-stranded DNA binding GO:1990837 9.7 THRB RORB OTX2 NRL NR2E1 NR1D1
7 DNA-binding transcription factor activity GO:0003700 9.56 THRB RORB OTX2 NRL NR2E3 NR2E1
8 cGMP binding GO:0030553 9.55 CNGB3 CNGA3
9 G protein-coupled photoreceptor activity GO:0008020 9.54 RHO GNAT2
10 leucine zipper domain binding GO:0043522 9.52 NRL CRX
11 intracellular cAMP-activated cation channel activity GO:0005222 9.49 CNGB3 CNGA3
12 intracellular cGMP-activated cation channel activity GO:0005223 9.46 CNGB3 CNGA3
13 G protein-coupled receptor kinase activity GO:0004703 9.43 GRK7 GRK1
14 steroid hormone receptor activity GO:0003707 9.43 NR2E3 NR2E1 NR1D1
15 rhodopsin kinase activity GO:0050254 9.4 GRK7 GRK1
16 nuclear receptor activity GO:0004879 9.02 THRB RORB NR2E3 NR2E1 NR1D1

Sources for Enhanced S-Cone Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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