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 05-Apr-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 Simethicone and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, 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 1431)
# 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 05-Apr-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 05-Apr-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 1847)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simethicone Approved Phase 4 8050-81-5
2
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
5
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
6
Vancomycin Approved Phase 4 1404-90-6 14969 441141
7
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
8
Methoxyflurane Approved, Investigational, Vet_approved Phase 4 76-38-0 4116
9
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
10
Cisatracurium Approved Phase 4 96946-41-7 62887
11
Acitretin Approved Phase 4 55079-83-9 6437841 5284513
12
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
13
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
14
Simvastatin Approved Phase 4 79902-63-9 54454
15
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
16
Caffeine Approved Phase 4 58-08-2 2519
17
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
18
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
19
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
20
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
21
Budesonide Approved Phase 4 51333-22-3 63006 5281004
22
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
23
Nicotine Approved Phase 4 54-11-5 942 89594
24
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
25
Ibuprofen Approved Phase 4 15687-27-1 3672
26
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
27
Dobutamine Approved Phase 4 34368-04-2 36811
28
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
29
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
30
Certolizumab pegol Approved Phase 4 428863-50-7
31
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
32
Ziprasidone Approved Phase 4 146939-27-7 60854
33
Iron Approved Phase 4 7439-89-6 23925 29936
34
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
35
Dutasteride Approved, Investigational Phase 4 164656-23-9 6918296 152945
36
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
37
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
38
Pancrelipase Approved, Investigational Phase 4 53608-75-6
39
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 130881 158781
40
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
41
Terbinafine Approved, Investigational, Vet_approved Phase 4 91161-71-6 1549008 5402
42
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
43
Etomidate Approved Phase 4 33125-97-2 36339 667484
44
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
45
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
46
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
47
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
48
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
49
Etanercept Approved, Investigational Phase 4 185243-69-0
50
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959

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 A Study on the Fit and Behaviour of Computer-aided Design and Rapid Prototyping Fabrication of Removable Partial Dentures Unknown status NCT01191073 Phase 4
5 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
6 The Use of Oral Naloxone to Prevent Post Spinal Fusion Ileus Unknown status NCT03176316 Phase 4 Naloxone
7 Randomized, Double Blind, Placebo-Controlled Clinical Trial Evaluating Ramelteon in the Prevention of Delirium Unknown status NCT02564939 Phase 4 ramelteon;Placebo
8 The Effect of Ivabradine Treatment on Exercise Capacity in Patients With Cardiac Allograft Vasculopathy After Heart Transplantation Unknown status NCT03405831 Phase 4 Ivabradine;Placebo
9 Using Imaging to Assess Effects of THC on Brain Activity Unknown status NCT03655717 Phase 4 Dronabinol;Ethanol;Placebo Dronabinol;Placebo Ethanol
10 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
11 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
12 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
13 MethOxyflUraNe at moderaTe High AltItudes for PAIN Management: A Randomised, Double-blind, Cross-over Study Unknown status NCT03849027 Phase 4 Methoxyflurane;Placebo
14 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
15 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
16 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
17 Effects of Melatonin in the Treatment of Genital Herpes Unknown status NCT03831165 Phase 4 Acyclovir 400 MG
18 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
19 Assessment of a Knee Brace in Patients With Osteoarthritis Unknown status NCT02706106 Phase 4
20 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
21 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
22 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
23 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
24 Preemptive Paracetamol for Postoperative Pain: a Randomised, Double-blind, Two Way Crossover Trial Unknown status NCT02425254 Phase 4 Intravenous paracetamol;Intravenous saline 0.9%
25 Hyperalgesia, Persistent Pain, and Fentanyl Dosing in On-Pump Coronary Artery Bypass Grafting Unknown status NCT03450161 Phase 4 Fentanyl dosing schemes
26 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)
27 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
28 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
29 Comparison of Intranasal Sufentanil Versus Intravenous Morphine for the Management of Acute Pain Unknown status NCT03224039 Phase 4 Sufentanil;Normal saline;Morphine
30 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®)
31 A Double Blind Placebo Controlled Study of Guanfacine Adjunctive Treatment to Atypical Antipsychotics for Cognitive Dysfunction in Schizophrenia Unknown status NCT00469664 Phase 4 Guanfacine/Tenex
32 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Quality of Sleep and Reduction of Chronic Spine Pain (Sleep/Mag) Unknown status NCT00445133 Phase 4
33 A Double-Blind, Randomized, Placebo-Controlled Study on Magnetic Field Therapy to Improve Chronic Lumbar Pain (Lbp) Unknown status NCT00444990 Phase 4
34 Randomized Double Blind Trial Comparing Heparin and Placebo as Additives to Continuous Infusion in Intensive Care Neonates for Prevention of Ventilation Unknown status NCT00196469 Phase 4 heparin
35 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
36 Intra-Articular Injections of Hyaluronan Versus 20 Ml NaCl Versus Placebo in Treatment of Knee Osteoarthritis: a Randomised, Double-Blind, Placebo Controlled Single Centre Trial. Unknown status NCT00144820 Phase 4 Injection of Hyaluronan or Saline
37 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
38 A Randomized, Double Blind, Single Simulation, Parallel Controlled, Multi-center Clinical Study of Guli Capsules in the Treatment of Knee Osteoarthritis Unknown status NCT02484508 Phase 4 Guli capsule;Kangguzengsheng capsule
39 Colchicine for Acute Coronary Syndromes. A Multicenter Double Blind Randomized Trial. Unknown status NCT01906749 Phase 4 Colchicine;Placebo
40 A Double Blind Randomised Control Trial to Measure the Effect of the Addition of Clindamycin to Flucloxacillin for the Treatment of Limb Cellulitis Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
41 A Double Blind, Placebo Controlled Study to Evaluate the Efficacy of Melatonin in Acute Ischemic Stroke. Unknown status NCT01863277 Phase 4 Melatonin;placebo
42 A Multicenter, Double-blind, Randomized, Placebo and Active-controlled Study of Pregabalin for the Treatment of Uremic Pruritus Unknown status NCT01852318 Phase 4 pregabalin 75mg daily for 12 weeks;fexofenadine 60 mg daily for 12 weeks;placebo
43 A Double-blind,Randomized,Parallel,Placebo-controlled Study of Probiotics Capsule as Supplemental Therapy for Group B Streptococci Infection and Vaginitis During Pregnancy Unknown status NCT01779193 Phase 4
44 Comparison of Different Doses of Remifentanil on Postoperative Pain in Patients Undergoing Thyroidectomy: a Prospective, Double-blinded Randomized Control Trial Unknown status NCT01761149 Phase 4 Remifentanil
45 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism: A Double-Blind, Randomized, Placebo-Controlled Study Unknown status NCT03629639 Phase 4 Metformin
46 Efficacy of Tamsulosin OCAS in the Conjunctive Medical Treatment of Distal Ureteral Stones.A Randomized, Double-blind, Placebo-controlled Study Unknown status NCT01167062 Phase 4 Tamsulosin Hydrochloride OCAS 0.4 mg
47 Influence of Hepatic Steatosis on the Therapeutic Effect of Entecavir in Chronic Hepatitis B Patients-A Randomized, Double-Blinded, Controlled Trial Unknown status NCT01148576 Phase 4 entecavir;entecavir;essentiale + entecavir;Vitamin E + entecavir
48 Randomized Double-blind Placebo-controlled Study of add-on Montelukast to Inhaled Budesonide in the Treatment of Nonasthmatic Eosinophilic Bronchitis Unknown status NCT01121016 Phase 4 Montelukast
49 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis- An Investigator-initiated, Phase IV, Randomised Double-blind Multi-centre Trial of the Benefits and Harms of Aripiprazole Versus Quetiapine in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
50 A Randomized, Single-blind, Controlled Clinical Trial of Cardiomyopeptidin Intervention in Patients With Acute ST-segment Elevation Myocardial Infarction Undergoing Direct PCI After Ischemia-reperfusion Injury Unknown status NCT03958422 Phase 4 cardiomyopeptidin

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, Bone, Skin, Liver, Retina, Endothelial, Brain

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. 57 61
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. 54 61
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. 54 61
20085643 2010
7
Attainment of polarity promotes growth factor secretion by retinal pigment epithelial cells: relevance to age-related macular degeneration. 61 54
20228934 2009
8
Targeting of Drosophila rhodopsin requires helix 8 but not the distal C-terminus. 61 54
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. 61 54
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. 61 54
18974094 2008
13
Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy. 54 61
18783614 2008
14
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. 54 61
18809924 2008
15
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 54 61
18771762 2008
16
The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. 54 61
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. 61 54
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Celecoxib inhibits proliferation of retinal pigment epithelial and choroid-retinal endothelial cells by a cyclooxygenase-2-independent mechanism. 54 61
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Identification and characterization of a novel RPGR isoform in human retina. 54 61
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Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. 54 61
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Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. 61 54
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Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. 61 54
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[Angiogenesis and retinal diseases]. 61 54
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[New drug treatment for age-related macular degeneration]. 54 61
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Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. 54 61
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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 61 54
17325176 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
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29
Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. 54 61
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30
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. 54 61
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Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders. 61 54
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Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. 61 54
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The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. 54 61
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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
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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
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Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. 61 54
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The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. 61 54
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Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 61 54
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OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. 54 61
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CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 54 61
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Regulatory aspects of drug approval for macular degeneration. 61 54
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Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. 61 54
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Association of genetic polymorphisms of vascular endothelial growth factor and risk for proliferative retinopathy of prematurity. 54 61
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Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). 54 61
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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. 61 54
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Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. 61 54
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Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. 54 61
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Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. 61 54
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Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. 61 54
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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 54 61
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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 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
2 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
3 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 GRCh37: 9:139313082-139313082
GRCh38: 9:136418630-136418630
4 CEP290 NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) Microsatellite Pathogenic 286074 rs886043303 GRCh37: 12:88513898-88513901
GRCh38: 12:88120121-88120124
5 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) SNV Pathogenic 217635 rs376493409 GRCh37: 12:88476938-88476938
GRCh38: 12:88083161-88083161
6 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV Pathogenic 99460 rs61750654 GRCh37: 1:94466426-94466426
GRCh38: 1:94000870-94000870
7 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 GRCh37: 12:88477713-88477713
GRCh38: 12:88083936-88083936
8 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic 2358 rs111033272 GRCh37: 1:216498841-216498841
GRCh38: 1:216325499-216325499
9 CEP290 NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) SNV Pathogenic 373994 rs1057518822 GRCh37: 12:88496665-88496665
GRCh38: 12:88102888-88102888
10 MT-ND6 NC_012920.1:m.14598T>C SNV Likely pathogenic 374080 rs1057518882 GRCh37: MT:14598-14598
GRCh38: MT:14598-14598
11 EFEMP1 NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) SNV Likely pathogenic 523395 rs1553348960 GRCh37: 2:56097986-56097986
GRCh38: 2:55870851-55870851
12 ARV1 NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) SNV Likely pathogenic 183341 rs730882241 GRCh37: 1:231131622-231131622
GRCh38: 1:230995876-230995876

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