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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 75 53 59 74 55 72
Blindness 44 40
Deaf Blind Hypopigmentation Syndrome, Yemenite Type 59
Yemenite Deaf-Blind Hypopigmentation Syndrome 53
Warburg Thomsen Syndrome 53
Warburg-Thomsen Syndrome 59
Ydbhs 74

Characteristics:

Orphanet epidemiological data:

59
deaf blind hypopigmentation syndrome, yemenite type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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: 59  
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 73 C1866425
Orphanet 59 ORPHA3214
MedGen 42 C1866425
UMLS 72 C1866425
Sources

Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section
NIH Rare Diseases : 53 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 congenital stationary night blindness and red-green 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 Phototransduction and Metabolism of fat-soluble vitamins. The drugs Pioglitazone and Tobramycin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are nystagmus and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 74 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

Wikipedia : 75 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 3015)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 34.1 RPE65 RHO AIPL1 ABCA4
2 red-green color blindness 34.0 RPE65 RHO ABCA4
3 leber congenital amaurosis 10 32.4 RPE65 CEP290
4 usher syndrome, type i 32.3 USH2A RHO MYO7A
5 retinitis pigmentosa 19 32.0 RHO ABCA4
6 usher syndrome 32.0 USH2A RPGR MYO7A
7 achromatopsia 3 31.8 RPE65 GUCY2D CRB1 AIPL1
8 stargardt disease 1 31.8 RHO ABCA4
9 coats disease 31.7 VEGFA RHO CRB1
10 prolonged electroretinal response suppression 31.6 GUCY2D CRB1 ABCA4
11 usher syndrome, type id 31.6 USH2A MYO7A
12 usher syndrome, type iic 31.1 USH2A MYO7A CRB1
13 macular degeneration, age-related, 1 31.1 VEGFA RPE65 RHO CRB1 CFH ABCA4
14 leber congenital amaurosis 9 31.0 RPE65 GUCY2D CRB1 AIPL1
15 cone-rod dystrophy 2 30.8 RPGR RPE65 RHO GUCY2D AIPL1 ABCA4
16 usher syndrome, type iid 30.7 USH2A RPGR RHO MYO7A
17 retinitis pigmentosa-deafness syndrome 30.3 USH2A MYO7A
18 kuhnt-junius degeneration 30.3 VEGFA CFH
19 endophthalmitis 30.3 VEGFA OPTN
20 stargardt disease 30.2 RPGR RPE65 RHO MYO7A CRB1 ABCA4
21 cancer-associated retinopathy 30.1 VEGFA RHO
22 macular retinal edema 30.1 VEGFA CRB1
23 stargardt macular degeneration 30.0 RHO ABCA4
24 hereditary retinal dystrophy 29.8 RHO GUCY2D CEP290
25 neovascular glaucoma 29.8 VEGFA OPTN
26 cone-rod dystrophy 8 29.4 GUCY2D ABCA4
27 nervous system disease 29.4 VEGFA RHO OPTN
28 leber congenital amaurosis 29.3 USH2A RPGR RPE65 RHO MYO7A GUCY2D
29 acute closed-angle glaucoma 29.2 OPTN CHM
30 keratoconus 29.1 RPE65 GUCY2D CRB1 AIPL1
31 optic disk drusen 29.1 VEGFA RHO CRB1
32 cone-rod dystrophy 9 28.9 GUCY2D ABCA4
33 retinal degeneration 28.2 RPGR RPE65 RHO MYO7A GUCY2D CRB1
34 retinal disease 27.9 USH2A RPGR RPE65 RHO MYO7A GUCY2D
35 ewing sarcoma 27.9 VEGFA RHO OPTN CHM ABCA4
36 retinitis pigmentosa 27.8 USH2A RPGR RPE65 RHO MYO7A GUCY2D
37 fundus dystrophy 25.6 USH2A RPGR RPE65 RHO MYO7A GUCY2D
38 color blindness 12.7
39 night blindness, congenital stationary, type 1a 12.6
40 night blindness 12.6
41 night blindness, congenital stationary, type 1b 12.6
42 x-linked congenital stationary night blindness 12.6
43 night blindness, congenital stationary, type 2a 12.6
44 night blindness, congenital stationary, type 1d 12.6
45 blind loop syndrome 12.6
46 night blindness, congenital stationary, type 1e 12.6
47 night blindness, congenital stationary, type 1f 12.6
48 night blindness, congenital stationary, autosomal dominant 2 12.5
49 night blindness, congenital stationary, type 1c 12.5
50 night blindness, congenital stationary, autosomal dominant 1 12.5

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
4 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
5 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
6 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
7 multiple cafe-au-lait spots 59 32 hallmark (90%) Very frequent (99-80%) HP:0007565
8 freckling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001480
9 macrodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001572
10 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
11 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
12 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
13 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
14 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
15 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
16 iris hypopigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007730
17 anterior synechiae of the anterior chamber 59 32 frequent (33%) Frequent (79-30%) HP:0011483
18 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
19 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
20 taurodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000679
21 abnormal size of the palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0200007
22 high hypermetropia 32 occasional (7.5%) HP:0008499
23 chorioretinal coloboma 32 HP:0000567
24 high-grade hypermetropia 59 Occasional (29-5%)
25 white forelock 32 HP:0002211
26 severe sensorineural hearing impairment 32 HP:0008625
27 patchy hypo- and hyperpigmentation 32 HP:0007509
28 numerous pigmented freckles 32 HP:0007587

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 10.1 ABCA4 AIPL1 CEP290 CFH CHM CRB1
3 cardiovascular system MP:0005385 9.97 ABCA4 ARV1 CEP290 CFH CHM RHO
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 9.44 ABCA4 AIPL1 CEP290 CFH CHM CRB1
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 569)
# 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 36294 5496
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 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
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
12
Phenylephrine Approved Phase 4 59-42-7 6041
13
Ranibizumab Approved Phase 4 347396-82-1 459903
14
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
15
Povidone-iodine Approved Phase 4 25655-41-8
16
Insulin glargine Approved Phase 4 160337-95-1
17
Gliclazide Approved Phase 4 21187-98-4 3475
18
Zinc Approved, Investigational Phase 4 7440-66-6 32051
19
Bromfenac Approved Phase 4 91714-94-2 60726
20
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
21
Travoprost Approved Phase 4 157283-68-6 5282226
22
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
23
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
24
Ephedrine Approved Phase 4 299-42-3 9294
25
Pseudoephedrine Approved Phase 4 90-82-4 7028
26
Apraclonidine Approved Phase 4 66711-21-5 2216
27
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4 90-89-1 3052
28
Benserazide Approved, Investigational Phase 4 322-35-0
29
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
30
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
31
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
32
Remifentanil Approved Phase 4 132875-61-7 60815
33
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
34
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
35
Empagliflozin Approved Phase 4 864070-44-0
36
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
37
Metformin Approved Phase 4 657-24-9 4091 14219
38
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
39
Dipivefrin Approved Phase 4 52365-63-6 3105
40
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
41
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
42
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
43
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
45
leucovorin Approved Phase 4 58-05-9 143 6006
46
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
47
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
48
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 1071)
# 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 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
6 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
7 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
8 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
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 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
11 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
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 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
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 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
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 Intermediate Term Outcomes of Intraoperative 5-Fluorouracil Versus Mitomycin c in Trabeculectomy Surgery. Completed NCT00346489 Phase 4 5-fluorouracil;Mitomycin C
21 Aqueous Humor Dynamic Components That Determine Intraocular Pressure Variance Completed NCT01677507 Phase 4 Variation in eye pressure response to timolol and latanoprost treatment
22 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
23 Guanfacine in Children With Tic Disorders: A Multi-site Study Completed NCT01547000 Phase 4 placebo;extended-release guanfacine (Intuniv)
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 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
28 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
29 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
30 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
31 Prospective Comparison of Epinephrine and Phenylephrine/Ketorolac (Omidria®) Additives With Regards to Intraoperative Pupil Size Completed NCT02895035 Phase 4 Phenylephrine-ketorolac;Epinephrine
32 Research to Programs for Trachoma Elimination: Antibiotic Trial Completed NCT00792922 Phase 4 Azithromycin;Azithromycin
33 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
34 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
35 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
36 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
37 Trial of Antibiotics to Reduce Recurrent Trichiasis (STAR) Completed NCT00347776 Phase 4 azithromycin;topical tetracycline
38 Strategies for the Control of Blinding Trachoma: Effect of Fly Spray Completed NCT00347763 Phase 4
39 The Effect of Salsalate Treatment on Insulin Sensitivity and Insulin Secretion in Obese Non-Diabetic Individuals Completed NCT00339833 Phase 4 Salsalate;Placebo
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 The Role of Unilateral Intravitreal Bevacizumab (Avastin), for the Treatment of Bilateral Diabetic Macular Edema: a Pilot Study. Completed NCT00496405 Phase 4 bevacizumab
42 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
43 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
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 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
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 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)
48 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
49 Comparison Between the Post-Treatment Reactions After Single-dose Ivermectin or DEC in Subjects With Loa Loa Infection Completed NCT01593722 Phase 4 Diethylcarbamazine;Ivermectin
50 A Randomized, Double-masked Study With Intraocular Anti-VEGF (Avastin®/Lucentis®) Compared With Intraocular Triamcinolone (Volon A®) in Patients With Clinical Significant Diabetic Macular Edema Completed NCT00682539 Phase 4 Bevacizumab (Avastin);Triamcinolone;Sham

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:

41
Eye, Retina, Endothelial, Brain, Testes, Cortex, 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 26238)
# Title Authors PMID Year
1
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 9 38 8
10441344 1999
2
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome. 38 8
2280978 1990
3
Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness. 9 38
20374996 2010
4
Anti-VEGF therapies and blood pressure: more than meets the eye. 9 38
20425156 2010
5
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 9 38
20085643 2010
6
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. 9 38
19843539 2010
7
Attainment of polarity promotes growth factor secretion by retinal pigment epithelial cells: relevance to age-related macular degeneration. 9 38
20228934 2009
8
Targeting of Drosophila rhodopsin requires helix 8 but not the distal C-terminus. 9 38
19572012 2009
9
RPE65: role in the visual cycle, human retinal disease, and gene therapy. 9 38
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. 9 38
19177549 2009
11
Differential gene expression in Ndph-knockout mice in retinal development. 9 38
18978344 2009
12
IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. 9 38
18974094 2008
13
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. 9 38
18771762 2008
14
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. 9 38
18809924 2008
15
Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy. 9 38
18783614 2008
16
The angio-fibrotic switch of VEGF and CTGF in proliferative diabetic retinopathy. 9 38
18628999 2008
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Seed-based systematic discovery of specific transcription factor target genes. 9 38
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18
Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. 9 38
18385795 2008
19
Celecoxib inhibits proliferation of retinal pigment epithelial and choroid-retinal endothelial cells by a cyclooxygenase-2-independent mechanism. 9 38
18032574 2008
20
Identification and characterization of a novel RPGR isoform in human retina. 9 38
17405150 2007
21
Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. 9 38
17399790 2007
22
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. 9 38
17594175 2007
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Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. 9 38
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[Angiogenesis and retinal diseases]. 9 38
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[New drug treatment for age-related macular degeneration]. 9 38
17460341 2007
26
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 9 38
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27
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. 9 38
17339482 2007
28
Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types. 9 38
17148662 2006
29
Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. 9 38
17148042 2006
30
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders. 9 38
16921166 2006
31
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. 9 38
17012256 2006
32
Rethinking STOP-ROP: is it worthwhile trying to modulate excessive VEGF levels in prethreshold ROP eyes by systemic intervention? A review of the role of oxygen, light adaptation state, and anemia in prethreshold ROP. 9 38
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Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. 9 38
16905558 2006
34
The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. 9 38
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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. 9 38
16787919 2006
36
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. 9 38
16807332 2006
37
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. 9 38
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38
Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 9 38
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OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. 9 38
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CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 9 38
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Regulatory aspects of drug approval for macular degeneration. 9 38
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Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. 9 38
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43
Association of genetic polymorphisms of vascular endothelial growth factor and risk for proliferative retinopathy of prematurity. 9 38
15635051 2005
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Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). 9 38
15765048 2005
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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. 9 38
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Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. 9 38
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Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. 9 38
15582159 2004
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Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. 9 38
15381031 2004
49
Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. 9 38
15469903 2004
50
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. 9 38
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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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 3:129251570-129251570 3:129532727-129532727
2 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 12:88477713-88477713 12:88083936-88083936
3 USH2A NM_206933.3(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 1:216498841-216498841 1:216325499-216325499
4 ABCA4 NM_000350.3(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 1:94466426-94466426 1:94000870-94000870
5 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 12:88476938-88476938 12:88083161-88083161
6 PMPCA NM_015160.3(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 9:139313082-139313082 9:136418630-136418630
7 PMPCA NM_015160.3(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 9:139313299-139313299 9:136418847-136418847
8 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 12:88496665-88496665 12:88102888-88102888
9 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) short repeat Pathogenic rs886043303 12:88513898-88513901 12:88120121-88120124
10 ARV1 NM_022786.3(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 1:231131622-231131622 1:230995876-230995876
11 Translocation Likely pathogenic
12 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 MT:14598-14598 MT:14598-14598
13 EFEMP1 NM_001039348.3(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 2:56097986-56097986 2:55870851-55870851
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
Phototransduction 37
Show member pathways
 11.69 RPE65 RHO GUCY2D
2
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.68 RPE65 RHO MYO7A GUCY2D ABCA4
3
Visual Cycle in Retinal Rods 64
11.41 RPE65 RHO GUCY2D
4
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.69 RPE65 RHO GUCY2D
5
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 ciliary basal body GO:0036064 9.5 USH2A RPGR CEP290
2 photoreceptor connecting cilium GO:0032391 9.43 USH2A MYO7A CEP290
3 photoreceptor disc membrane GO:0097381 9.33 RHO GUCY2D ABCA4
4 photoreceptor outer segment GO:0001750 9.26 RPGR RHO MYO7A 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:

(show all 11)
# 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 9.61 RPE65 RHO ABCA4
3 photoreceptor cell maintenance GO:0045494 9.58 USH2A RHO ABCA4
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.54 RHO GUCY2D AIPL1
5 sensory perception of light stimulus GO:0050953 9.5 USH2A RHO MYO7A
6 response to light stimulus GO:0009416 9.49 RPE65 RHO
7 positive regulation of neuroblast proliferation GO:0002052 9.48 VEGFA SOX10
8 inner ear receptor cell differentiation GO:0060113 9.46 USH2A MYO7A
9 phototransduction, visible light GO:0007603 9.43 RHO AIPL1 ABCA4
10 visual perception GO:0007601 9.28 USH2A RPGR RPE65 RHO MYO7A GUCY2D
11 eye photoreceptor cell development GO:0042462 9.26 VEGFA MYO7A CRB1 CEP290
Sources

Sources for Yemenite Deaf-Blind Hypopigmentation Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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