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YDBHS
MCID: YMN001
MIFTS: 65

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 56 74 52 58 73 54 71
Blindness 43 39
Deaf Blind Hypopigmentation Syndrome, Yemenite Type 58
Yemenite Deaf-Blind Hypopigmentation Syndrome 52
Warburg Thomsen Syndrome 52
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:

56
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 56 601706
MESH via Orphanet 44 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
NIH Rare Diseases : 52 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 . 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 Pioglitazone and Tobramycin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, 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 3026)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.5 RPGR RPE65
2 color blindness 32.8 RPGR RPE65 RHO GUCY2D AIPL1 ABCA4
3 gyrate atrophy of choroid and retina 32.0 RPGR RPE65 RHO ABCA4
4 glaucoma, primary open angle 31.9 RHO OPTN ABCA4
5 choroiditis 31.9 VEGFA CFH
6 night blindness 31.8 USH2A RPGR RPE65 RHO GUCY2D CHM
7 late-onset retinal degeneration 31.8 RPGR RHO CRB1
8 enhanced s-cone syndrome 31.7 RPGR RPE65 RHO AIPL1
9 retinitis pigmentosa 4 31.6 RPGR RHO
10 congenital stationary night blindness 31.6 USH2A RPGR RPE65 RHO GUCY2D CRB1
11 usher syndrome, type ij 31.6 USH2A MYO7A
12 coats disease 31.6 VEGFA RHO CRB1
13 usher syndrome, type iid 31.5 USH2A MYO7A
14 usher syndrome, type if 31.3 USH2A MYO7A
15 retinitis pigmentosa 39 31.3 USH2A RPGR
16 retinitis pigmentosa 19 31.3 RPGR ABCA4
17 leber congenital amaurosis 1 31.2 RPE65 RHO GUCY2D CRB1 CEP290 AIPL1
18 usher syndrome, type iia 31.2 USH2A CRB1
19 retinitis pigmentosa 20 31.1 RPGR RPE65
20 scotoma 31.1 VEGFA RPGR RPE65 RHO GUCY2D ABCA4
21 usher syndrome, type i 31.1 USH2A RPGR RPE65 RHO MYO7A
22 choroideremia 31.0 USH2A RPGR RPE65 CHM ABCA4
23 fundus albipunctatus 31.0 USH2A RPGR RPE65 RHO CRB1 ABCA4
24 leber congenital amaurosis 8 30.9 GUCY2D CRB1 AIPL1
25 achromatopsia 30.8 USH2A RPGR RPE65 RHO GUCY2D CRB1
26 leber congenital amaurosis 9 30.8 RPE65 GUCY2D CRB1 CEP290 AIPL1
27 retinoschisis 1, x-linked, juvenile 30.7 RPGR RPE65 RHO CRB1 AIPL1 ABCA4
28 coloboma of macula 30.5 SOX10 CRB1 CEP290
29 usher syndrome, type iiia 30.4 USH2A RPE65 MYO7A CRB1 AIPL1
30 usher syndrome 30.2 USH2A RPGR RPE65 RHO MYO7A CRB1
31 retinitis pigmentosa-deafness syndrome 30.1 USH2A MYO7A
32 leber congenital amaurosis 2 30.1 RPE65 RHO MYO7A GUCY2D CRB1 CEP290
33 retinal vascular disease 30.1 VEGFA RHO AIPL1
34 kuhnt-junius degeneration 30.1 VEGFA CFH
35 cancer-associated retinopathy 30.1 VEGFA RHO
36 leber congenital amaurosis 10 30.1 RPGR RPE65 GUCY2D CRB1 CEP290 AIPL1
37 macular retinal edema 30.1 VEGFA RHO CRB1
38 cone-rod dystrophy 2 29.8 USH2A RPGR RPE65 RHO GUCY2D CRB1
39 stargardt macular degeneration 29.8 RHO ABCA4
40 senior-loken syndrome 1 29.7 USH2A RPGR RPE65 GUCY2D CRB1 CEP290
41 nonsyndromic retinitis pigmentosa 29.7 USH2A ABCA4
42 enophthalmos 29.6 GUCY2D CEP290
43 toxic maculopathy 29.5 CFH ABCA4
44 retinitis 29.5 USH2A RPGR RPE65 RHO CRB1 ABCA4
45 thrombotic microangiopathy 29.4 VEGFA CFH
46 optic disk drusen 29.4 RHO CRB1
47 leber congenital amaurosis / early-onset severe retinal dystrophy 29.3 RPE65 CEP290 AIPL1
48 cone-rod dystrophy 8 29.3 GUCY2D AIPL1
49 retinal perforation 29.3 VEGFA RPE65
50 retinal ciliopathy 29.2 RPGR CEP290

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 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
6 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
7 multiple cafe-au-lait spots 58 31 hallmark (90%) Very frequent (99-80%) HP:0007565
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 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
13 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
14 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
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 patchy hypo- and hyperpigmentation 31 HP:0007509
25 white forelock 31 HP:0002211
26 severe sensorineural hearing impairment 31 HP:0008625
27 numerous pigmented freckles 31 HP:0007587

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ABCA4 ARV1 CEP290 CFH CHM CRB1
2 nervous system MP:0003631 10.13 ABCA4 AIPL1 ARV1 CEP290 CFH CHM
3 cardiovascular system MP:0005385 10.02 ABCA4 ARV1 CEP290 CFH CHM CRB1
4 pigmentation MP:0001186 9.65 ABCA4 CEP290 CFH CHM CRB1 MYO7A
5 no phenotypic analysis MP:0003012 9.63 MYO7A OPTN RHO RPGR SOX10 VEGFA
6 vision/eye MP:0005391 9.47 ABCA4 AIPL1 ARV1 CEP290 CFH CHM
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 550)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4
Alogliptin Approved Phase 4 850649-61-5 11450633
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
6
Sodium citrate Approved, Investigational Phase 4 68-04-2
7
Bevacizumab Approved, Investigational Phase 4 216974-75-3
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Glimepiride Approved Phase 4 93479-97-1 3476
10
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
11
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
12
Ranibizumab Approved Phase 4 347396-82-1 459903
13
Povidone-iodine Approved Phase 4 25655-41-8
14
Insulin glargine Approved Phase 4 160337-95-1
15
Gliclazide Approved Phase 4 21187-98-4 3475
16
Zinc Approved, Investigational Phase 4 7440-66-6 32051
17
Bromfenac Approved Phase 4 91714-94-2 60726
18
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
19
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
20
Apraclonidine Approved Phase 4 66711-21-5 2216
21
Benserazide Approved, Investigational Phase 4 322-35-0
22
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4 90-89-1 3052
23
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
24
Remifentanil Approved Phase 4 132875-61-7 60815
25
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
26
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
27
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
28
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
29
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
30
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
31
Empagliflozin Approved Phase 4 864070-44-0
32
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
33
Dipivefrin Approved Phase 4 52365-63-6 3105
34
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
35
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
36
Phenylephrine Approved Phase 4 59-42-7 6041
37
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
38
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
39
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
41
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
42 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
43
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
44
leucovorin Approved Phase 4 58-05-9 6006 143
45
Pseudoephedrine Approved Phase 4 90-82-4 7028
46
Ephedrine Approved Phase 4 299-42-3 9294
47
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
48
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
49
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 1109)
# Name Status NCT ID Phase Drugs
1 Clinical Assessment of Auro KPro Unknown status NCT01018888 Phase 4
2 Rationalization of the Systemic Treatment of Age-related Macular Degeneration With Rheohemapheresis (RHF) Unknown status NCT01943396 Phase 4
3 Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients Unknown status NCT02809079 Phase 4 Mycophenolate mofetil;Prednisone
4 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
5 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
6 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
7 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
8 A Phase IV, Multicenter, Randomized, Active Comparator Controlled Study of the Addition of Pioglitazone Compared With Glimepiride in Subjects With Type 2 Diabetes Mellitus Who Have Inadequate Glycemic Control on Metformin and Alogliptin Unknown status NCT02426294 Phase 4 Pioglitazone;Glimepiride
9 An Open Label-study to Compare the Efficacy of Aflibercept Monotherapy for Polypoidal Choroidal Vasculopathy Using a Modified Intensive Treat and Extend Regime to a Fixed Dosing Regimen Unknown status NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
10 Intraperitoneal Dexmedetomidine as an Adjuvant to Bupivacaine for Management of Pain in Children Undergoing Laparoscopic Appendicectomy: A Prospective Randomized Trial Unknown status NCT03067740 Phase 4 Bupivacaine;Dexmedetomidine
11 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
12 A Double-Blind, Randomised, Placebo Controlled Healthy Volunteer Study to Investigate the Nature and Origin of the Disturbance of Vision Induced by Single Oral Doses of Sildenafil Completed NCT00251784 Phase 4 Sildenafil
13 Comparison of the Effects of Rosiglitazone and Glimepiride, Both Given in Combination With Metformin, on 24-Hour Glycemia in Type 2 Diabetes Patients Not Controlled With Metformin Alone. A 3-Month Multicentre, Randomized, Parallel-Group, Open-Label Study. Completed NCT00318656 Phase 4 rosiglitazone-metformin fixed dose combination;metformin + glimepiride
14 TAHOE: Sustained InTravitreal DexAmetHasone Implant (Ozurdex) for Uveitic Macular Edema Completed NCT01870440 Phase 4 Ozurdex Intravitreal Injection (0.7 mg)
15 Phase 4 Study on the Prognosis and Effect of Anti-diabetic Drugs on Type-2 Diabetes Mellitus With Coronary Artery Disease Completed NCT00513630 Phase 4 Glipizide;Metformin
16 An Open-Label, Multicenter, Phase 4 Study of the Effect of Verteporfin for Injection Therapy in Subjects With Occult With No Classic Choroidal NeoVascularization Secondary to Age-Related Macular Degeneration Completed NCT00135837 Phase 4 Verteporfin for injection
17 The Addition of Rosiglitazone to Insulin in Adolescents With Type 1 Diabetes and Poor Glycaemic Control: a Randomized, Placebo Controlled Trial Completed NCT00372086 Phase 4 Rosiglitazone
18 VEGF and HTRA1 DNA Polymorphisms in Neovascular AMD Pathogenesis and Response to Lucentis Completed NCT01464723 Phase 4 Ranibizumab
19 Randomized, Double Blind Trial of Bromfenac BID (0.09%) as an Adjunct to Argon Laser Therapy in the Treatment of Diabetic Macular Edema. Completed NCT00758628 Phase 4 Bromefenac;Blink
20 Aqueous Humor Dynamic Components That Determine Intraocular Pressure Variance Completed NCT01677507 Phase 4 Variation in eye pressure response to timolol and latanoprost treatment
21 Intermediate Term Outcomes of Intraoperative 5-Fluorouracil Versus Mitomycin c in Trabeculectomy Surgery. Completed NCT00346489 Phase 4 5-fluorouracil;Mitomycin C
22 Guanfacine in Children With Tic Disorders: A Multi-site Study Completed NCT01547000 Phase 4 placebo;extended-release guanfacine (Intuniv)
23 A Phase IV, Prospective, Open-label, Uncontrolled, European Study in Patients With Neovascular Age-related Macular Degeneration (nAMD), Evaluating the Efficacy and Safety of Switching From Intravitreal Aflibercept to Ranibizumab 0.5mg. Completed NCT02161575 Phase 4 Ranibizumab
24 Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With Primary Open Angle Glaucoma Completed NCT01978015 Phase 4 travoprost and timolol maleate fixed combination;latanoprost and maleate timolol fixed combination;bimatoprost and timolol maleate fixed combination;dextran and hypromellose
25 Phase IV Study of Micropulse Laser Trabeculoplasty Versus Selective Laser Trabeculoplasty for Treatment of Open Angle Glaucoma Completed NCT01956942 Phase 4
26 Evaluation on Efficacy of Topical Nepafenac as Supplement Therapy in the Treatment of Diabetic Macular Edema Completed NCT02443012 Phase 4 Topical Gutt Nepafenac 0.1%
27 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V Completed NCT00563121 Phase 4
28 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
29 Clinical and Pharmacokinetics Study to Evaluate the Therapeutic Equivalence and Bioequivalence of Levodopa Benserazide Generic Formulation (Teva Italia) Versus the Originator (Madopar®) Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia
30 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis, Severe Sepsis and Septic Shock: Prospective Randomized, Double Blind Placebo Controlled Clinical Trials Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
31 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
32 Research to Programs for Trachoma Elimination: Antibiotic Trial Completed NCT00792922 Phase 4 Azithromycin;Azithromycin
33 Concentration-Volume Relationship of Bupivacaine in Femoral Nerve Block Efficiency for Postoperative Analgesia in Primary Total Knee Arthroplasty: A Randomized Controlled Double Blind Clinical Trial Completed NCT03623230 Phase 4 Bupivacaine 0.25% Injectable Solution;Bupivacaine 0.125% Injectable Solution
34 Prospective, Randomized, Double-blind Comparison of 5 % Against 1.25 % Povidone-iodine Solution as Preoperative Antisepsis for Strabismus Surgery in Young Children Completed NCT00461656 Phase 4 Preoperative conjunctival irrigation with 5% or 1.25% PI
35 Trial of Antibiotics to Reduce Recurrent Trichiasis (STAR) Completed NCT00347776 Phase 4 azithromycin;topical tetracycline
36 Strategies for the Control of Blinding Trachoma: Effect of Fly Spray Completed NCT00347763 Phase 4
37 The Effect of Salsalate Treatment on Insulin Sensitivity and Insulin Secretion in Obese Non-Diabetic Individuals Completed NCT00339833 Phase 4 Salsalate;Placebo
38 Choroidal Thickness and Its Correlations With Ocular Parameters in Cases With Primary Open-angle Glaucoma Completed NCT03966560 Phase 4 Brimonidine Tartrate;Dorzolamide (as Dorzolamide Hydrochloride) 20 Mg/mL and Timolol (as Timolol Maleate) 5 Mg/mL Eye Drops;Brinzolamide/Timolol 10 MG/1 ML-5 MG/1 ML Ophthalmic Suspension;Travoprost and Timolol;Bimatoprost and Timolol;Latanoprost
39 The Role of Unilateral Intravitreal Bevacizumab (Avastin), for the Treatment of Bilateral Diabetic Macular Edema: a Pilot Study. Completed NCT00496405 Phase 4 bevacizumab
40 A Randomised Controlled Trial of Non-absorbable (Silk) Sutures Verses Absorbable (Vicryl) Sutures During the Surgical Treatment of Trachomatous Trichiasis Completed NCT00522860 Phase 4
41 Phase 4 Study of a Reminiscence Program to Improve Quality of Life of Alzheimer's Disease Long Term Care Residents Using a Randomized Controlled Trial Completed NCT01295957 Phase 4
42 Influence of Travoprost 0.004% and Latanoprost 0.005% on Retinal Vascular Diameter and Choroidal Blood Flow in Glaucoma Patients Completed NCT00308945 Phase 4 travoprost 0.004% (drug);latanoprost 0.005% (drug)
43 Randomized and Single Blind Study Comparing Remifentanil Sedation Versus Propofol for Performing Bronchial Fibroscopies Under Intravenous Anesthesia Completed NCT01872754 Phase 4 1: Remifentanil;2: Propofol
44 A Randomised, Double-Blind, Placebo-Controlled Study of Cilostazol 100 mg Twice Daily in the Treatment of Diabetic Nephropathy in Hong Kong Chinese Completed NCT00272831 Phase 4 Cilostazol;Placebo
45 Proof of Concept Study of the Effectiveness of Ozurdex in Lieu of Oral Corticosteroids for the Control of Active Intermediate and Posterior Uveitis Requiring Immunosuppressive Drug Therapy Completed NCT02049476 Phase 4 Dexamethasone pellet
46 The Effect of Inhaled Corticosteroids on Intraocular Pressure in Patients With Ocular Hypertension or Controlled Glaucoma. Completed NCT02338362 Phase 4 Fluticasone propionate inhaler;Saline placebo inhaler
47 LUCAS. A Randomized, Prospective, Multicenter Study Comparing the Effect of Intravitreal Injection of Bevacizumab to Ranibizumab When Given to Patients With Neovascular Age-related Macular Degeneration Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
48 Comparison Between the Post-Treatment Reactions After Single-dose Ivermectin or DEC in Subjects With Loa Loa Infection Completed NCT01593722 Phase 4 Diethylcarbamazine;Ivermectin
49 A Randomised Controlled Trial of Epimacular Brachytherapy Versus Ranibizumab Monotherapy for the Treatment of Subfoveal Choroidal Neovascularisation Associated With Wet Age-related Macular Degeneration in Patients Who Have Commenced Anti-VEGF Therapy Completed NCT01006538 Phase 4 Ranibizumab
50 JanUmet Before Insulin Lantus In Eastern Population Evaluation Program (JUBILEE) In Type 2 Diabetic Patients Completed NCT01269996 Phase 4 Janumet, Lantus;metformin, gliclazide, protaphane

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, Retina, Brain, Endothelial, Testes, Bone, Pituitary
Sources

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

(show top 50) (show all 26965)
# Title Authors PMID Year
1
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 54 61 56
10441344 1999
2
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome. 61 56
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
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 54 61
20085643 2010
6
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. 54 61
19843539 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. 54 61
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. 54 61
18978344 2009
12
IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. 54 61
18974094 2008
13
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Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 54 61
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The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. 54 61
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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. 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. 54 61
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[Angiogenesis and retinal diseases]. 54 61
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[New drug treatment for age-related macular degeneration]. 54 61
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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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Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. 54 61
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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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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. 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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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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The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. 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. 54 61
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Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. 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. 54 61
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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. 54 61
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Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. 54 61
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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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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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
2 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
3 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
4 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
5 USH2A NM_206933.3(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
6 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870
7 CEP290 NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs)short repeat Pathogenic 286074 rs886043303 12:88513898-88513901 12:88120121-88120124
8 CEP290 NM_025114.3(CEP290):c.2941C>T (p.Gln981Ter)SNV Pathogenic 373994 rs1057518822 12:88496665-88496665 12:88102888-88102888
9 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg)SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727
10 ARV1 NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)SNV Pathogenic/Likely pathogenic 183341 rs730882241 1:231131622-231131622 1:230995876-230995876
11 EFEMP1 NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)SNV Likely pathogenic 523395 rs1553348960 2:56097986-56097986 2:55870851-55870851
12 46;XY;t(1;14)(p21.2;q11.2)dn;t(4;10)(p13;q11.2)dnTranslocation Likely pathogenic 267933
13 MT-ND6 NC_012920.1:m.14598T>CSNV Conflicting interpretations of pathogenicity 374080 rs1057518882 MT:14598-14598 MT:14598-14598
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
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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 ciliary basal body GO:0036064 9.5 USH2A RPGR CEP290
2 photoreceptor connecting cilium GO:0032391 9.43 USH2A MYO7A CEP290
3 photoreceptor outer segment GO:0001750 9.35 RPGR RHO MYO7A GUCY2D ABCA4
4 photoreceptor disc membrane GO:0097381 9.33 RHO GUCY2D ABCA4
5 photoreceptor inner segment GO:0001917 9.02 USH2A RHO MYO7A CRB1 AIPL1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.76 USH2A RPGR RPE65 RHO GUCY2D CHM
2 retinoid metabolic process GO:0001523 9.63 RPE65 RHO ABCA4
3 photoreceptor cell maintenance GO:0045494 9.58 USH2A RHO ABCA4
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.54 RHO GUCY2D AIPL1
5 sensory perception of light stimulus GO:0050953 9.5 USH2A RHO MYO7A
6 positive regulation of neuroblast proliferation GO:0002052 9.48 VEGFA SOX10
7 inner ear receptor cell differentiation GO:0060113 9.43 USH2A MYO7A
8 phototransduction, visible light GO:0007603 9.43 RHO AIPL1 ABCA4
9 visual perception GO:0007601 9.28 USH2A RPGR RPE65 RHO MYO7A GUCY2D
10 eye photoreceptor cell development GO:0042462 9.26 VEGFA MYO7A CRB1 CEP290
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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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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