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YDBHS
MCID: YMN001
MIFTS: 66

Yemenite Deaf-Blind Hypopigmentation Syndrome (YDBHS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Yemenite Deaf-Blind Hypopigmentation Syndrome

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MalaCards integrated aliases for Yemenite Deaf-Blind Hypopigmentation Syndrome:

Name: Yemenite Deaf-Blind Hypopigmentation Syndrome 57 74 20 58 73 54 71
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 73

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-Mar-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
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 72 C1866425
Orphanet 58 ORPHA3214
MedGen 41 C1866425
UMLS 71 C1866425
Sources

Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section
GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3214DefinitionYemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.EpidemiologyThe syndrome was described in 1990 in two patients from the same Yemenite family.Clinical descriptionA 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.EtiologyThe cause of this syndrome has not been determined.Genetic counselingThe inheritance pattern appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

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 Procaterol and Methoxyflurane 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 : 73 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

Wikipedia : 74 Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related... more...

More information from OMIM: 601706
Sources

Related Diseases for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

(show top 50) (show all 1417)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 31.9 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 enhanced s-cone syndrome 31.5 RPE65 RHO AIPL1
5 bietti crystalline corneoretinal dystrophy 31.4 RPE65 ABCA4
6 congenital stationary night blindness 31.4 USH2A RPE65 RHO GUCY2D CEP290 AIPL1
7 night blindness 31.4 USH2A RPE65 RHO GUCY2D EFEMP1 CEP290
8 fundus albipunctatus 31.3 RPE65 RHO GUCY2D ABCA4
9 late-onset retinal degeneration 31.2 USH2A RPE65 RHO CEP290 ABCA4
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 retinitis 30.8 USH2A RPE65 RHO ABCA4
17 usher syndrome, type i 30.7 USH2A RPE65 RHO MYO7A
18 leber congenital amaurosis 9 30.7 RPE65 GUCY2D CEP290 AIPL1
19 leber congenital amaurosis 10 30.7 RPE65 GUCY2D CEP290 AIPL1
20 optic nerve disease 30.7 VEGFA OPTN MT-ND6
21 leber congenital amaurosis 8 30.6 RPE65 GUCY2D CEP290 AIPL1
22 choroideremia 30.6 USH2A RPE65 RHO MYO7A GUCY2D CEP290
23 senior-loken syndrome 1 30.5 USH2A RPE65 RHO GUCY2D CEP290 AIPL1
24 optic nerve hypoplasia, bilateral 30.3 RPE65 RHO ABCA4
25 glaucoma, primary open angle 30.3 VEGFA RHO OPTN EFEMP1 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 30.1 VEGFA RHO CFH
29 leber congenital amaurosis 2 30.1 RPE65 RHO MYO7A GUCY2D CEP290 AIPL1
30 kuhnt-junius degeneration 30.0 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 29.9 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 degenerative myopia 29.7 VEGFA CFH
38 usher syndrome 29.7 USH2A RPE65 RHO MYO7A GUCY2D CEP290
39 leber plus disease 29.6 VEGFA USH2A RPE65 RHO MYO7A MT-ND6
40 keratoconus 29.6 RPE65 GUCY2D CEP290 AIPL1
41 cone-rod dystrophy 6 29.6 RPE65 GUCY2D ABCA4
42 familial drusen 29.6 EFEMP1 CFH
43 macular degeneration, age-related, 1 29.5 VEGFA USH2A RPE65 RHO MYO7A GUCY2D
44 cone-rod dystrophy 8 29.5 GUCY2D AIPL1
45 eye disease 29.4 VEGFA RPE65 RHO OPTN CFH CEP290
46 leber congenital amaurosis 16 29.4 GUCY2D AIPL1
47 leber congenital amaurosis / early-onset severe retinal dystrophy 29.4 RPE65 CEP290 AIPL1
48 cone-rod dystrophy 3 29.4 GUCY2D ABCA4
49 chorioretinal scar 29.4 VEGFA RHO ABCA4
50 retinal perforation 29.3 VEGFA RPE65

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



Diseases related to Yemenite Deaf-Blind Hypopigmentation Syndrome
Sources

Symptoms & Phenotypes for Yemenite Deaf-Blind Hypopigmentation Syndrome

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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-Mar-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-Mar-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
Sources

Drugs & Therapeutics for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

(show top 50) (show all 1816)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procaterol Approved, Investigational Phase 4 72332-33-3 688561
2
Methoxyflurane Approved, Investigational, Vet_approved Phase 4 76-38-0 4116
3
Teicoplanin Approved, Investigational Phase 4 61036-62-2
4
Prochlorperazine Approved, Vet_approved Phase 4 1984-02-6, 58-38-8 4917
5
Dapsone Approved, Investigational Phase 4 80-08-0 2955
6
Chromium Approved Phase 4 7440-47-3 27668
7
Cobalt Approved, Experimental Phase 4 7440-48-4 104729
8 Taurolidine Approved, Investigational Phase 4 19388-87-5
9
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
10
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
11
Simvastatin Approved Phase 4 79902-63-9 54454
12
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
13
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
14
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
15
Ezetimibe Approved Phase 4 163222-33-1 150311
16
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
17
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
18
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
19
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
20
Olodaterol Approved Phase 4 868049-49-4
21
Memantine Approved, Investigational Phase 4 19982-08-2 4054
22
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
23
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
26
Fosaprepitant Approved Phase 4 172673-20-0 219090
27
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
28
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
29
Ibuprofen Approved Phase 4 15687-27-1 3672
30
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
31
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
32
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
33
Ziprasidone Approved Phase 4 146939-27-7 60854
34
Canagliflozin Approved Phase 4 842133-18-0
35
Certolizumab pegol Approved Phase 4 428863-50-7
36
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
37
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
38
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
39
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
40
Tranexamic Acid Approved Phase 4 1197-18-8 5526
41
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
42
Mycophenolic acid Approved Phase 4 24280-93-1 446541
43
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
44
Remifentanil Approved Phase 4 132875-61-7 60815
45
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
46
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
47
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
48
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
49
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
50
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662

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 Randomized, Double Blind, Placebo-Controlled Clinical Trial Evaluating Ramelteon in the Prevention of Delirium Unknown status NCT02564939 Phase 4 ramelteon;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 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
7 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
8 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
9 Assessment of a Knee Brace in Patients With Osteoarthritis Unknown status NCT02706106 Phase 4
10 Hyperalgesia, Persistent Pain, and Fentanyl Dosing in On-Pump Coronary Artery Bypass Grafting Unknown status NCT03450161 Phase 4 Fentanyl dosing schemes
11 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
12 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
13 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
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 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)
16 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
17 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
18 Using Imaging to Assess Effects of THC on Brain Activity Unknown status NCT03655717 Phase 4 Dronabinol;Ethanol;Placebo Dronabinol;Placebo Ethanol
19 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
20 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
21 On-line 3-dimensional Optical Frequency Domain Imaging to Optimize Bifurcation Stenting Using UltiMaster Stent: OPTIMUM Study Unknown status NCT02972489 Phase 4
22 Comparison of Intranasal Sufentanil Versus Intravenous Morphine for the Management of Acute Pain Unknown status NCT03224039 Phase 4 Sufentanil;Normal saline;Morphine
23 Preemptive Paracetamol for Postoperative Pain: a Randomised, Double-blind, Two Way Crossover Trial Unknown status NCT02425254 Phase 4 Intravenous paracetamol;Intravenous saline 0.9%
24 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®)
25 Effects of Melatonin in the Treatment of Genital Herpes Unknown status NCT03831165 Phase 4 Acyclovir 400 MG
26 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
27 MethOxyflUraNe at moderaTe High AltItudes for PAIN Management: A Randomised, Double-blind, Cross-over Study Unknown status NCT03849027 Phase 4 Methoxyflurane;Placebo
28 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
29 Cardiovascular Events in Hypertensive Hemodialysed Patients: Aliskiren Versus Amlodipine. A Randomized, Double-blind Study. Unknown status NCT01394770 Phase 4 Aliskiren
30 A Double Blind Randomised Control Trial Assessing Effects of Local Anaesthetic Concentration (0.5% vs 0.75%) and Volume (5mls vs 15mls) on the Respiratory Consequences of Ultrasound Guided Interscalene Brachial Plexus Nerve Block Unknown status NCT01374464 Phase 4
31 Double Blind, Randomised, Cross-over Study Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
32 Phase 4 Study of The Effect of Sihogayonggolmoryeo-tang on the Anxiety of Hwa-byung : A Randomized, Double Blind, Placebo-control Trial Unknown status NCT01362114 Phase 4 SIHOGAYONGGOLMORYU TANG EXTRACT GRAN
33 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
34 The Effect of Moxonidine and Regression of Early Target Organ Damage in Young Subjects With Abdominal Obesity and Hypertension: a Randomised, Double Blind, Active Comparator Clinical Trial Unknown status NCT01360710 Phase 4 Moxonidine;Irbesartan
35 Randomized Double Blind Controlled Trial of the Value of Robotic Rectopexy for the Treatment of Complex Pelvic Floor Dysfunction Unknown status NCT01346436 Phase 4
36 Intravenous Lidocaine for Effective Pain Relief After Tonsillectomy: a Prospective, Randomized, Double-blind, Placebo-controlled Study Unknown status NCT01291979 Phase 4 Intravenous lidocaine injection;Intravenous normal saline injection
37 A Multicenter, Double Blind Trial to Compare the Efficacy and Safety of Escitalopram With Placebo in Patients With Acute Stroke for the Prevention of Poststroke Depression and Related Symptoms (Emotional Incontinence, Anger Proneness), and for Improvement of Neurologic, Cognitive Function and Quality of Life Unknown status NCT01278498 Phase 4 Escitalopram;sugar pill
38 A Randomized, Controlled, Single-blind Study of Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4 corticosteroid
39 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
40 Randomized, Parallel-group, Placebo-controlled, Safety-assessor Blinded Trial in Adult Subjects Evaluating the Efficacy and Safety of Sugammadex for Reversal of Pipecuronium-induced Neuromuscular Blockade in Subjects Undergoing Abdominal Surgery Under General Anesthesia Unknown status NCT01424488 Phase 4 sugammadex;placebo
41 Sterimar vs Saline Sprays in Nasal Surgical Aftercare - a Blinded, Randomised Trial Unknown status NCT00595608 Phase 4 Sterimar Spray;Generic homemade nasal saline spray (salt and water)
42 Effects of Intensive Antihypertensive Therapies on the Risk of Stroke in Hypertensive Adults: A Prospective Randomized Open-Label Blinded-Endpoint Trial, a Feasibility Study Unknown status NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
43 The Therapeutic Effects of Combination of Insulin With Berberine on the Patients With Stess Hyperlipemia:a Prospective, Double Blind, Randomized, Placebo-controlled, Single-center Clinical Trial Unknown status NCT02806999 Phase 4 Berberine; Insulin;Insulin
44 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
45 Once a Month High-dose Methylprednisolone During Wash-out Period Between Natalizumab and Fingolimod Treatments in Patients With Multiple Sclerosis: a Randomised, Controlled, Double-blind Trial (NTZ2FTY) Unknown status NCT02769689 Phase 4 Methylprednisolone;Placebo;natalizumab (NTZ);fingolimob (FTY)
46 Effect of Melatonin on Sleep Disturbances in Patients With Parkinson's Disease: Double Blind, Randomized, Placebo Controlled Trial Unknown status NCT02768077 Phase 4 Melatonin(Circadin®);Placebo
47 Effects of Perioperative Intravenous Dexamethasone on the Severity of Persistent Postsurgical Pain After Total Knee Arthroplasty : A Prospective, Randomized, Double-blind, Placebo-controlled Trial Unknown status NCT02760459 Phase 4 Dexamethasone;Normal saline solution
48 The Effect of Superoxide Dismutase (SOD) Enzyme on Frailty and Health Related Quality of Life Among Indonesian Pre-frail Elderly: A Double Blind Randomized Controlled Trial Unknown status NCT02753582 Phase 4
49 A Randomized, Double-Blind, Placebo-Controlled, Flexible-Dose Titration Study of Aptensio XR® in Children Ages 4 to Under 6 Years Diagnosed With Attention Deficit-Hyperactivity Disorder (ADHD) Unknown status NCT02683265 Phase 4 Aptensio XR;Placebo
50 Effect of Preoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561506 Phase 4 Ferric carboxymaltose;0.9% Normal Saline

Search NIH Clinical Center for Yemenite Deaf-Blind Hypopigmentation Syndrome

Cochrane evidence based reviews: blindness

Sources

Genetic Tests for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section
Sources

Anatomical Context for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section

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

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

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

(show top 50) (show all 28775)
# Title Authors PMID Year
1
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 54 61 57
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. 54 61
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. 54 61
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. 54 61
20228934 2009
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Targeting of Drosophila rhodopsin requires helix 8 but not the distal C-terminus. 54 61
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RPE65: role in the visual cycle, human retinal disease, and gene therapy. 61 54
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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
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Differential gene expression in Ndph-knockout mice in retinal development. 61 54
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IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. 61 54
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Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 61 54
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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. 61 54
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Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy. 54 61
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16
The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. 54 61
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Seed-based systematic discovery of specific transcription factor target genes. 61 54
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Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. 54 61
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Celecoxib inhibits proliferation of retinal pigment epithelial and choroid-retinal endothelial cells by a cyclooxygenase-2-independent mechanism. 61 54
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Identification and characterization of a novel RPGR isoform in human retina. 61 54
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Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. 54 61
17399790 2007
22
Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. 61 54
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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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[Angiogenesis and retinal diseases]. 54 61
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[New drug treatment for age-related macular degeneration]. 61 54
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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 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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28
Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. 61 54
17148042 2006
29
Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. 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. 61 54
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31
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders. 54 61
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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
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33
The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. 61 54
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34
Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. 54 61
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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. 54 61
16787919 2006
36
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. 61 54
16807332 2006
37
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. 54 61
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38
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. 61 54
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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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Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. 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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48
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
49
Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. 61 54
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50
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 61 54
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Sources

Variations for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

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

Expression for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism of fat-soluble vitamins 65
Show member pathways
 11.68 RPE65 RHO MYO7A GUCY2D ABCA4
2
Phototransduction 36
Show member pathways
 11.63 RPE65 RHO GUCY2D
3
Visual Cycle in Retinal Rods 63
11.3 RPE65 RHO GUCY2D
4
the visual cycle I (vertebrates) 1
Show member pathways
 10.66 RPE65 RHO MYO7A ABCA4
Sources

GO Terms for Yemenite Deaf-Blind Hypopigmentation Syndrome

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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

Sources for Yemenite Deaf-Blind Hypopigmentation Syndrome

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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