YDBHS
MCID: YMN001
MIFTS: 66

Yemenite Deaf-Blind Hypopigmentation Syndrome (YDBHS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Yemenite Deaf-Blind Hypopigmentation Syndrome

MalaCards integrated aliases for Yemenite Deaf-Blind Hypopigmentation Syndrome:

Name: Yemenite Deaf-Blind Hypopigmentation Syndrome 57 73 20 58 72 54 70
Blindness 44 39
Deaf Blind Hypopigmentation Syndrome, Yemenite Type 58
Yemenite Deaf-Blind Hypopigmentation Syndrome 20
Warburg Thomsen Syndrome 20
Warburg-Thomsen Syndrome 58
Ydbhs 72

Characteristics:

Orphanet epidemiological data:

58
deaf blind hypopigmentation syndrome, yemenite type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
yemenite deaf-blind hypopigmentation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 601706
MESH via Orphanet 45 C536771
UMLS via Orphanet 71 C1866425
Orphanet 58 ORPHA3214
MedGen 41 C1866425
UMLS 70 C1866425

Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3214 Definition Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Epidemiology The syndrome was described in 1990 in two patients from the same Yemenite family. Clinical description A brother and sister were described as having cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma, and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. Etiology The cause of this syndrome has not been determined. Genetic counseling The inheritance pattern appears to be autosomal recessive.

MalaCards based summary : Yemenite Deaf-Blind Hypopigmentation Syndrome, also known as blindness, is related to red-green color blindness and color blindness. An important gene associated with Yemenite Deaf-Blind Hypopigmentation Syndrome is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Nefopam and Evolocumab have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are nystagmus and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 72 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

Wikipedia : 73 Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related... more...

More information from OMIM: 601706

Related Diseases for Yemenite Deaf-Blind Hypopigmentation Syndrome

Diseases related to Yemenite Deaf-Blind Hypopigmentation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1430)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 32.0 RPE65 RHO ABCA4
2 color blindness 31.8 RPE65 RHO GUCY2D AIPL1 ABCA4
3 gyrate atrophy of choroid and retina 31.8 RPE65 RHO ABCA4
4 night blindness 31.4 USH2A RPE65 RHO GUCY2D EFEMP1 CEP290
5 congenital stationary night blindness 31.4 USH2A RPE65 RHO GUCY2D CEP290 AIPL1
6 fundus albipunctatus 31.3 RPE65 RHO GUCY2D ABCA4
7 bietti crystalline corneoretinal dystrophy 31.3 RPE65 ABCA4
8 late-onset retinal degeneration 31.2 USH2A RPE65 RHO CEP290 ABCA4
9 leber congenital amaurosis 13 31.2 CEP290 AIPL1
10 usher syndrome, type ij 31.1 USH2A MYO7A
11 achromatopsia 31.1 USH2A RPE65 RHO GUCY2D CEP290 AIPL1
12 usher syndrome, type iid 31.1 USH2A MYO7A
13 leber congenital amaurosis 1 31.1 RPE65 RHO GUCY2D CEP290 AIPL1
14 usher syndrome, type if 30.9 USH2A MYO7A
15 usher syndrome, type iia 30.8 USH2A MYO7A CEP290 ABCA4
16 leber congenital amaurosis 8 30.8 RPE65 GUCY2D AIPL1
17 retinitis 30.8 USH2A RPE65 RHO ABCA4
18 usher syndrome, type i 30.8 USH2A RPE65 RHO MYO7A
19 leber congenital amaurosis 9 30.7 RPE65 GUCY2D CEP290 AIPL1
20 leber congenital amaurosis 10 30.7 RPE65 GUCY2D CEP290 AIPL1
21 optic nerve disease 30.7 VEGFA OPTN MT-ND6
22 choroideremia 30.6 USH2A RPE65 RHO MYO7A GUCY2D CEP290
23 senior-loken syndrome 1 30.5 USH2A RPE65 RHO GUCY2D CEP290 AIPL1
24 glaucoma, primary open angle 30.3 VEGFA RHO OPTN EFEMP1 ABCA4
25 optic nerve hypoplasia, bilateral 30.3 RPE65 RHO ABCA4
26 retinoschisis 1, x-linked, juvenile 30.2 USH2A RPE65 RHO MYO7A GUCY2D ABCA4
27 chorioretinitis 30.2 VEGFA ABCA4
28 macular retinal edema 30.2 VEGFA RHO CFH
29 leber congenital amaurosis 2 30.1 RPE65 RHO MYO7A GUCY2D CEP290 AIPL1
30 kuhnt-junius degeneration 30.1 VEGFA CFH
31 pathologic nystagmus 30.0 RPE65 RHO GUCY2D CEP290 AIPL1 ABCA4
32 cancer-associated retinopathy 30.0 VEGFA RHO
33 aland island eye disease 30.0 RPE65 GUCY2D ABCA4
34 retinal vascular disease 30.0 VEGFA RHO AIPL1
35 cone-rod dystrophy 2 29.9 USH2A RPE65 RHO MYO7A GUCY2D CEP290
36 open-angle glaucoma 29.8 VEGFA RHO OPTN EFEMP1
37 nonsyndromic retinitis pigmentosa 29.8 USH2A ABCA4
38 usher syndrome 29.7 USH2A RPE65 RHO MYO7A GUCY2D CEP290
39 degenerative myopia 29.7 VEGFA CFH
40 leber plus disease 29.7 VEGFA USH2A RPE65 RHO MYO7A MT-ND6
41 keratoconus 29.6 RPE65 GUCY2D CEP290 AIPL1
42 cone-rod dystrophy 6 29.6 RPE65 GUCY2D ABCA4
43 neuropathy 29.6 VEGFA SOX10 RHO OPTN MT-ND6
44 familial drusen 29.6 EFEMP1 CFH
45 macular degeneration, age-related, 1 29.5 VEGFA USH2A RPE65 RHO MYO7A GUCY2D
46 cone-rod dystrophy 8 29.5 GUCY2D AIPL1
47 leber congenital amaurosis / early-onset severe retinal dystrophy 29.4 RPE65 CEP290 AIPL1
48 leber congenital amaurosis 16 29.4 GUCY2D AIPL1
49 cone-rod dystrophy 3 29.4 GUCY2D ABCA4
50 chorioretinal scar 29.4 VEGFA RHO ABCA4

Graphical network of the top 20 diseases related to Yemenite Deaf-Blind Hypopigmentation Syndrome:



Diseases related to Yemenite Deaf-Blind Hypopigmentation Syndrome

Symptoms & Phenotypes for Yemenite Deaf-Blind Hypopigmentation Syndrome

Human phenotypes related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
4 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
5 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
6 multiple cafe-au-lait spots 58 31 hallmark (90%) Very frequent (99-80%) HP:0007565
7 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
8 freckling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001480
9 macrodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001572
10 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
12 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
13 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
14 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
15 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
16 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
17 anterior synechiae of the anterior chamber 58 31 frequent (33%) Frequent (79-30%) HP:0011483
18 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
19 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
20 taurodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000679
21 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
22 abnormal size of the palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0200007
23 chorioretinal coloboma 31 HP:0000567
24 white forelock 31 HP:0002211
25 severe sensorineural hearing impairment 31 HP:0008625
26 patchy hypo- and hyperpigmentation 31 HP:0007509
27 numerous pigmented freckles 31 HP:0007587

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
nystagmus
iris coloboma
microcornea
choroid coloboma

Ears:
severe early sensorineural hearing loss

Skin:
patchy hypo- and hyperpigmentation
multiple freckles

Hair:
white anterior scalp hair

Clinical features from OMIM®:

601706 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARV1 CEP290 CFH EFEMP1 GUCY2D MYO7A
2 homeostasis/metabolism MP:0005376 10.07 ABCA4 ARV1 CEP290 CFH EFEMP1 GUCY2D
3 cardiovascular system MP:0005385 9.97 ABCA4 ARV1 CEP290 CFH EFEMP1 MT-ND6
4 nervous system MP:0003631 9.97 ABCA4 AIPL1 ARV1 CEP290 CFH GUCY2D
5 pigmentation MP:0001186 9.56 ABCA4 CEP290 CFH EFEMP1 MYO7A RHO
6 vision/eye MP:0005391 9.4 ABCA4 AIPL1 CEP290 CFH EFEMP1 GUCY2D

Drugs & Therapeutics for Yemenite Deaf-Blind Hypopigmentation Syndrome

Drugs for Yemenite Deaf-Blind Hypopigmentation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1840)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nefopam Approved, Investigational Phase 4 13669-70-0
2
Evolocumab Approved Phase 4 1256937-27-5
3
Acitretin Approved Phase 4 55079-83-9 6437841 5284513
4
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
5
Probucol Approved, Investigational Phase 4 23288-49-5 4912
6
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
7
Benzoic acid Approved, Investigational Phase 4 65-85-0 243
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Atenolol Approved Phase 4 29122-68-7 2249
10
Mirabegron Approved Phase 4 223673-61-8 9865528
11
Tapentadol Approved Phase 4 175591-23-8 9838022
12
Saxagliptin Approved Phase 4 361442-04-8 11243969
13
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
14
Fosaprepitant Approved Phase 4 172673-20-0 219090
15
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
16
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
17
Nicotine Approved Phase 4 54-11-5 942 89594
18
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
19
Ezetimibe Approved Phase 4 163222-33-1 150311
20
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
21
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
22
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
23
Racepinephrine Approved Phase 4 329-65-7 838
24
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
25
Olodaterol Approved Phase 4 868049-49-4
26
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
27
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
28
Gliclazide Approved Phase 4 21187-98-4 3475
29
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
30
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
31
Memantine Approved, Investigational Phase 4 19982-08-2 4054
32
Dobutamine Approved Phase 4 34368-04-2 36811
33
Procaterol Approved, Investigational Phase 4 72332-33-3 688561
34
Lactitol Approved, Investigational Phase 4 585-86-4 157355
35
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
36
Enalaprilat Approved Phase 4 76420-72-9 6917719
37
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
38
Sertraline Approved Phase 4 79617-96-2 68617
39
Ofloxacin Approved Phase 4 82419-36-1 4583
40
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
41
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
42
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
43
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
44
Fondaparinux Approved, Investigational Phase 4 104993-28-4
45
Eplerenone Approved Phase 4 107724-20-9 150310 443872
46
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
47
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
48
Asenapine Approved Phase 4 85650-56-2, 65576-45-6 3001386
49
Tranexamic Acid Approved Phase 4 1197-18-8 5526
50
Liraglutide Approved Phase 4 204656-20-2 44147092

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Multi-Centre, Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Vardenafil in Men With Erectile Dysfunction Caused by Spinal Cord Injury Unknown status NCT00725790 Phase 4 Vardenafil;Placebo
2 A Randomized, Double-Blind, Controlled Trial on the Homocysteine-Lowering Effects of Different Doses of Folic Acid Among Patients With Hypertension According to Methylenetetrahydrofolate Reductase C677T Genotypes Unknown status NCT03472508 Phase 4 Folic Acid;Enalapril Maleate and Folic Acid Tablets (Yiye);Enalapril
3 Ketamine v. Ketorolac for Management of Generalized Tension Type Headache Unknown status NCT03221569 Phase 4 Intravenous ketamine;Ketorolac;Normal saline;Normal saline
4 The Effect of Ivabradine Treatment on Exercise Capacity in Patients With Cardiac Allograft Vasculopathy After Heart Transplantation Unknown status NCT03405831 Phase 4 Ivabradine;Placebo
5 A Study on the Fit and Behaviour of Computer-aided Design and Rapid Prototyping Fabrication of Removable Partial Dentures Unknown status NCT01191073 Phase 4
6 Randomized, Double Blind, Placebo-Controlled Clinical Trial Evaluating Ramelteon in the Prevention of Delirium Unknown status NCT02564939 Phase 4 ramelteon;Placebo
7 The Use of Oral Naloxone to Prevent Post Spinal Fusion Ileus Unknown status NCT03176316 Phase 4 Naloxone
8 Comparison Between Blind and Ultrasound Guided Injection in Morton Neuroma Unknown status NCT03046108 Phase 4 blind injection of Mepivacaine;blind injection of Triamcinolone;guided injection of mepivacaine;guided injection of Triamcinolone
9 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
10 A Single Center, Prospective Randomized Double-blind Trial: Efficacy of Nefopam and Morphine in Balanced Analgesia for Acute Ureteric Colic Unknown status NCT01543165 Phase 4 Ketorolac and nefopam balanced analgesia;Balanced analgesia using ketorolac and morphine;Pain control with single analgesics (ketorolac)
11 Effects of Melatonin in the Treatment of Genital Herpes Unknown status NCT03831165 Phase 4 Acyclovir 400 MG
12 Using Imaging to Assess Effects of THC on Brain Activity Unknown status NCT03655717 Phase 4 Dronabinol;Ethanol;Placebo Dronabinol;Placebo Ethanol
13 Does the Early Use of Sodium Bicarbonate Improve Results of Cardiopulmonary Resuscitation Following Out-of-Hospital Cardiac Arrest - a Prospective, Controlled Clinical Trial Unknown status NCT01377337 Phase 4 sodium bicarbonate
14 A Randomized, Double-blind, Placebo-controlled Trial of Dan-shen Extract in Patients With Stable Angina Pectoris Unknown status NCT02870764 Phase 4 Dan-shen extract;Placebo
15 Diffusion Tensor Weighted MRI in Alzheimer's Disease: Prediction and Mapping of Symptomatic and Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
16 A Prospective, Placebo Controlled, Double-Blind, Cross-over Study on the Effects of a Probiotic Preparation (VSL#3) on Metabolic Profile, Intestinal Permeability, Microbiota, Cytokines and Chemokines Expression and Other Inflammatory Markers in Pediatric Patients With Crohn's Disease Unknown status NCT01632462 Phase 4 VSL#3
17 To Compare the Efficacy and Safety Between Pioglitazone Added to Combination Therapy of Sulfonylurea Plus Metformin and Placebo Control Group in Patients With Type 2 Diabetes Unknown status NCT00991055 Phase 4 Pioglitazone
18 Preemptive Paracetamol for Postoperative Pain: a Randomised, Double-blind, Two Way Crossover Trial Unknown status NCT02425254 Phase 4 Intravenous paracetamol;Intravenous saline 0.9%
19 Assessment of a Knee Brace in Patients With Osteoarthritis Unknown status NCT02706106 Phase 4
20 Safety and Efficacy of the Novel Selective Nicotinic Receptor Partial Agonist, CHANTIX (Varenicline) in Patients With Acute Coronary Syndrome Unknown status NCT01170338 Phase 4 Varenicline 100 mg by mouth twice daily;control
21 Hyperalgesia, Persistent Pain, and Fentanyl Dosing in On-Pump Coronary Artery Bypass Grafting Unknown status NCT03450161 Phase 4 Fentanyl dosing schemes
22 MethOxyflUraNe at moderaTe High AltItudes for PAIN Management: A Randomised, Double-blind, Cross-over Study Unknown status NCT03849027 Phase 4 Methoxyflurane;Placebo
23 Prediction of Individual Treatment Response Based on Brain Changes at the Early Phase of Antidepressant Treatment in Major Depressive Disorder Using Machine Learning Classification Analysis Unknown status NCT02330679 Phase 4 Desvenlafaxine;Placebo
24 PREBIOUS Trial : A Multicenter Randomized Controlled Trial of Preventive Midline Laparotomy Closure With a Bioabsorbable Mesh for the Prevention of Incisional Hernia. Unknown status NCT02208557 Phase 4
25 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
26 Multicentric, Prospective, Randomized and Simple Blind Study to Determine the Efficacy of the Placement of an Onlay Mesh for Prevention of Incisional Hernia After Loop Ileostomy Closure in Patients With a Prior Rectal Resection for Cancer Unknown status NCT02896686 Phase 4
27 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
28 Quantitative Comparison of the Efficacy of Subtenon 20-mg Triamcinolone Injection With 0.1% Dexamethasone Eye Drop in Controlling Intraocular Inflammation After Phacoemulsification Unknown status NCT01801774 Phase 4 Subtenon 20-mg triamcinolone injection;Placebo
29 Neurocognitive Outcome Assessment in Patients With Peri-optic Meningiomas After Excision With Or Without Pealing Of The Outer Layer Of The Cavernous Sinus: A Randomized Controlled Single Blinded Trial. Unknown status NCT03190122 Phase 4
30 Comparison of Intranasal Sufentanil Versus Intravenous Morphine for the Management of Acute Pain Unknown status NCT03224039 Phase 4 Sufentanil;Normal saline;Morphine
31 Weight Reduction Alone May Not be Sufficient to Maintain Disease Remission in Obese Patients With Psoriasis: a Randomized, Investigator-blinded Study Unknown status NCT01439425 Phase 4
32 Renal Toxicity of Iodixanol and Iopromide in Patients With Renal Dysfunction-a Multicentre, Single Blind, Randomized Controlled, Prospective Trial Unknown status NCT01580046 Phase 4 iodixanol;iopromide
33 The Risk of Bleeding After Removal of Large Colorectal Polyps in Patients Continuing or Discontinuing on Aspirin: a Multicenter, Double-blind, Placebo-controlled, Randomized Clinical Trial Unknown status NCT01549418 Phase 4 Aspirin (ASA);Placebo
34 A Randomized, Double-blind Study to Evaluate the Efficacy and Safety of Iguratimod Alone or Iguratimod in Combination With Methotrexate Versus Methotrexate Alone in Patients With Rheumatoid Arthritis Unknown status NCT01548001 Phase 4 Iguratimod;Methotrexate
35 A Phase4,Multicenter, Randomized,Double-blind,Double Dummy, Parallel Controlled Study Evaluating the Efficacy and Safety of Triptergium Wilfordii and Acitretin in Treatment of Chinese Patients With Moderate to Severe Psoriasis Vulgaris Unknown status NCT01443338 Phase 4 Triptergium Wilfordii;Acitretin
36 Tramadol Versus Celecoxib in Reducing Pain Associated With IUD Insertion: A Double Blind Placebo Controlled Trial Unknown status NCT02827487 Phase 4 Tramadol;Celecoxib;Placebo 1;Placebo 2
37 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? A Randomized, Double-blinded, Placebo-controlled, Crossover Study. Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
38 Ejaculatory Sparing vs. Non-ejaculatory Sparing GreenLightTM Laser Photoselective Vaporization of the Prostate (PVP): A Randomized Double Blind Sexual and Urodynamic Assessment Unknown status NCT02749604 Phase 4
39 A Single Site, Three Arm, Open Label Comparative Preference Study to Evaluate the Preference of Consumers and Health Care Professionals for the Use of Shapes by PolyMem Wound Dressings and Shapes by PolyMem Silver Wound Dressings, Each Compared to Antibiotic Ointment Covered With a Band-aid Type Dressing (Current Standard of Practice) and to Each Other in the Post-biopsy Management of Shave Biopsies. Each Participant Serves as Own Control. A Blinded Third Party Physician Will Evaluate and Compare the Wounds Based on Photos Taken at the Various Follow-up Points.. Unknown status NCT00727870 Phase 4
40 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Over 3 Months Unknown status NCT00696215 Phase 4 placebo;rasagiline
41 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
42 Use of Home Pumps for Analgesia After Ambulatory Foot Surgery - Comparison of Two Infusion Rates - a Randomized, Double-Blind Study Unknown status NCT00600899 Phase 4
43 A Double Blind Randomized Placebo Controlled Study, for Smoking Cessation in Preadmission Clinic. the Use of a Teachable Moment Unknown status NCT00937508 Phase 4 varenicline;placebo
44 Donepezil Treatment for Sleep Apnea Patients: A Double Blind Placebo-Controlled Study Unknown status NCT00912457 Phase 4 donepezil;placebo
45 Comparing Rapid Bronchodilatory Effect of Formoterol and Salbutamol in Children Between 5-15 Years With Mild to Moderate Acute Exacerbation of Asthma- A Double Blind Randomized Controlled Trial Unknown status NCT00900874 Phase 4 salbutamol;Formoterol
46 Prospective, Randomized, Open-label, Blinded Endpoints, Multi-center Study to Evaluate the Efficacy of Modest Blood Pressure Reduction With Diovan® (Valsartan) in Acute Ischemic Stroke Unknown status NCT00874601 Phase 4 Diovan® (valsartan)
47 A Multicenter, Randomized, Double-blind, Clinical Study to Investigate the Efficacy and Safety of Treatment With Tamsulosin 0.2mg Mono and Tamsulosin 0.2mg, Finasteride 5mg Combination Therapy in Patients With LUTS/BPH Unknown status NCT01736033 Phase 4 Tamsulosin;Finasteride;Placebo
48 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
49 A Prospective Randomized Placebo-Controlled Double-Blind Study Assessing Change in Olfactory Function After Initiation of Rasagiline in Idiopathic Parkinson's Disease Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
50 A Randomized Investigator-blind Multi-center Prospective Study for the Efficacy and Safety of Silicon Gel (Dermatix) in the Prevention of Hypertrophic Scar in Subjects Undergoing Caesarean Section Unknown status NCT01004536 Phase 4

Search NIH Clinical Center for Yemenite Deaf-Blind Hypopigmentation Syndrome

Cochrane evidence based reviews: blindness

Genetic Tests for Yemenite Deaf-Blind Hypopigmentation Syndrome

Anatomical Context for Yemenite Deaf-Blind Hypopigmentation Syndrome

MalaCards organs/tissues related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

40
Eye, Skin, Bone, Retina, Brain, Endothelial, Liver

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

(show top 50) (show all 29099)
# Title Authors PMID Year
1
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 57 61 54
10441344 1999
2
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome. 61 57
2280978 1990
3
Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness. 61 54
20374996 2010
4
Anti-VEGF therapies and blood pressure: more than meets the eye. 61 54
20425156 2010
5
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. 61 54
19843539 2010
6
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 61 54
20085643 2010
7
Attainment of polarity promotes growth factor secretion by retinal pigment epithelial cells: relevance to age-related macular degeneration. 54 61
20228934 2009
8
Targeting of Drosophila rhodopsin requires helix 8 but not the distal C-terminus. 54 61
19572012 2009
9
RPE65: role in the visual cycle, human retinal disease, and gene therapy. 61 54
19373675 2009
10
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. 54 61
19177549 2009
11
Differential gene expression in Ndph-knockout mice in retinal development. 61 54
18978344 2009
12
IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. 54 61
18974094 2008
13
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. 54 61
18809924 2008
14
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 54 61
18771762 2008
15
Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy. 61 54
18783614 2008
16
The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. 61 54
18628999 2008
17
Seed-based systematic discovery of specific transcription factor target genes. 54 61
18485006 2008
18
Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. 54 61
18385795 2008
19
Celecoxib inhibits proliferation of retinal pigment epithelial and choroid-retinal endothelial cells by a cyclooxygenase-2-independent mechanism. 54 61
18032574 2008
20
Identification and characterization of a novel RPGR isoform in human retina. 61 54
17405150 2007
21
Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. 61 54
17399790 2007
22
Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. 54 61
17508034 2007
23
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. 54 61
17594175 2007
24
[Angiogenesis and retinal diseases]. 61 54
17768570 2007
25
[New drug treatment for age-related macular degeneration]. 54 61
17460341 2007
26
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 61 54
17325176 2007
27
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. 61 54
17339482 2007
28
Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. 61 54
17148662 2006
29
Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. 54 61
17148042 2006
30
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders. 54 61
16921166 2006
31
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. 61 54
17012256 2006
32
Rethinking STOP-ROP: is it worthwhile trying to modulate excessive VEGF levels in prethreshold ROP eyes by systemic intervention? A review of the role of oxygen, light adaptation state, and anemia in prethreshold ROP. 54 61
16946672 2006
33
The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. 54 61
16835924 2006
34
Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. 61 54
16905558 2006
35
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. 61 54
16787919 2006
36
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. 54 61
16700630 2006
37
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. 61 54
16807332 2006
38
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 61 54
16900931 2006
39
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. 61 54
16617242 2006
40
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 61 54
16816528 2006
41
Regulatory aspects of drug approval for macular degeneration. 61 54
16316706 2005
42
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. 54 61
15837919 2005
43
Association of genetic polymorphisms of vascular endothelial growth factor and risk for proliferative retinopathy of prematurity. 54 61
15635051 2005
44
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). 54 61
15765048 2005
45
VEGF trap as a novel antiangiogenic treatment currently in clinical trials for cancer and eye diseases, and VelociGene- based discovery of the next generation of angiogenesis targets. 54 61
16869778 2005
46
Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. 61 54
15572405 2004
47
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. 54 61
15582159 2004
48
Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. 54 61
15381031 2004
49
Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. 54 61
15469903 2004
50
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 61 54
15229190 2004

Variations for Yemenite Deaf-Blind Hypopigmentation Syndrome

ClinVar genetic disease variations for Yemenite Deaf-Blind Hypopigmentation Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) SNV Pathogenic 217635 rs376493409 GRCh37: 12:88476938-88476938
GRCh38: 12:88083161-88083161
2 CEP290 NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) SNV Pathogenic 373994 rs1057518822 GRCh37: 12:88496665-88496665
GRCh38: 12:88102888-88102888
3 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 GRCh37: 12:88477713-88477713
GRCh38: 12:88083936-88083936
4 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic 2358 rs111033272 GRCh37: 1:216498841-216498841
GRCh38: 1:216325499-216325499
5 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
6 CEP290 NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) Microsatellite Pathogenic 286074 rs886043303 GRCh37: 12:88513898-88513901
GRCh38: 12:88120121-88120124
7 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV Pathogenic 99460 rs61750654 GRCh37: 1:94466426-94466426
GRCh38: 1:94000870-94000870
8 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 GRCh37: 9:139313082-139313082
GRCh38: 9:136418630-136418630
9 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
10 ARV1 NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) SNV Likely pathogenic 183341 rs730882241 GRCh37: 1:231131622-231131622
GRCh38: 1:230995876-230995876
11 MT-ND6 NC_012920.1:m.14598T>C SNV Likely pathogenic 374080 rs1057518882 GRCh37: MT:14598-14598
GRCh38: MT:14598-14598
12 EFEMP1 NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) SNV Likely pathogenic 523395 rs1553348960 GRCh37: 2:56097986-56097986
GRCh38: 2:55870851-55870851

Expression for Yemenite Deaf-Blind Hypopigmentation Syndrome

Search GEO for disease gene expression data for Yemenite Deaf-Blind Hypopigmentation Syndrome.

Pathways for Yemenite Deaf-Blind Hypopigmentation Syndrome

GO Terms for Yemenite Deaf-Blind Hypopigmentation Syndrome

Cellular components related to Yemenite Deaf-Blind Hypopigmentation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 9.43 USH2A MYO7A CEP290
2 photoreceptor disc membrane GO:0097381 9.33 RHO GUCY2D ABCA4
3 photoreceptor outer segment membrane GO:0042622 9.32 RHO GUCY2D
4 photoreceptor outer segment GO:0001750 9.26 RHO MYO7A GUCY2D ABCA4
5 photoreceptor inner segment GO:0001917 8.92 USH2A RHO MYO7A AIPL1

Biological processes related to Yemenite Deaf-Blind Hypopigmentation Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.85 USH2A RPE65 RHO GUCY2D AIPL1 ABCA4
2 retinoid metabolic process GO:0001523 9.61 RPE65 RHO ABCA4
3 photoreceptor cell maintenance GO:0045494 9.58 USH2A RHO ABCA4
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.5 RHO GUCY2D AIPL1
5 response to light stimulus GO:0009416 9.49 RPE65 RHO
6 positive regulation of neuroblast proliferation GO:0002052 9.48 VEGFA SOX10
7 inner ear receptor cell differentiation GO:0060113 9.46 USH2A MYO7A
8 eye photoreceptor cell development GO:0042462 9.43 VEGFA MYO7A CEP290
9 sensory perception of light stimulus GO:0050953 9.33 USH2A RHO MYO7A
10 visual perception GO:0007601 9.23 USH2A RPE65 RHO MYO7A GUCY2D EFEMP1
11 phototransduction, visible light GO:0007603 9.13 RHO AIPL1 ABCA4

Molecular functions related to Yemenite Deaf-Blind Hypopigmentation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 VEGFA USH2A SOX10 OPTN MYO7A CFH

Sources for Yemenite Deaf-Blind Hypopigmentation 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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