YDBHS
MCID: YMN001
MIFTS: 43

Yemenite Deaf-Blind Hypopigmentation Syndrome (YDBHS) malady

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

Aliases & Classifications for Yemenite Deaf-Blind Hypopigmentation Syndrome

Aliases & Descriptions for Yemenite Deaf-Blind Hypopigmentation Syndrome:

Name: Yemenite Deaf-Blind Hypopigmentation Syndrome 54 50 56 66 52 69
Deaf Blind Hypopigmentation Syndrome, Yemenite Type 56
Yemenite Deaf-Blind Hypopigmentation Syndrome 50
Warburg Thomsen Syndrome 50
Warburg-Thomsen Syndrome 56
Blindness 42
Ydbhs 66

Characteristics:

Orphanet epidemiological data:

56
deaf blind hypopigmentation syndrome, yemenite type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
yemenite deaf-blind hypopigmentation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 601706
Orphanet 56 ORPHA3214
MESH via Orphanet 43 C536771
UMLS via Orphanet 70 C1866425
MedGen 40 C1866425

Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

UniProtKB/Swiss-Prot : 66 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

MalaCards based summary : Yemenite Deaf-Blind Hypopigmentation Syndrome, also known as deaf blind hypopigmentation syndrome, yemenite type, is related to leber congenital amaurosis 9 and van buchem disease, and has symptoms including nystagmus, chorioretinal coloboma and iris coloboma. An important gene associated with Yemenite Deaf-Blind Hypopigmentation Syndrome is PMPCA (Peptidase, Mitochondrial Processing Alpha Subunit), and among its related pathways/superpathways is the visual cycle I (vertebrates). The drugs Ketorolac and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are pigmentation and vision/eye

Wikipedia : 71 The genetic disorder Yemenite deaf-blind hypopigmentation syndrome, also known as Warburg-Thomsen... more...

Description from OMIM: 601706

Related Diseases for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

(show top 50) (show all 1405)
id Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 9 30.6 AIPL1 RPE65
2 van buchem disease 30.4 ABCA4 AIPL1 RPE65
3 leukemia 29.4 AIPL1 RPE65
4 liver cirrhosis 29.0 ABCA4 AIPL1 RPE65
5 tendinosis 28.4 ABCA4 RPE65
6 color blindness 12.2
7 night blindness 12.2
8 congenital stationary night blindness 12.2
9 x-linked congenital stationary night blindness 12.1
10 blind loop syndrome 12.1
11 cortical blindness 12.1
12 night blindness, congenital stationary , 1a, x-linked 12.1
13 night blindness, congenital stationary , 1b, autosomal recessive 12.0
14 night blindness, congenital stationary , 1d, autosomal recessive 12.0
15 night blindness, congenital stationary, autosomal dominant 3 12.0
16 night blindness, congenital stationary, autosomal dominant 2 12.0
17 night blindness, congenital stationary , 1f, autosomal recessive 12.0
18 night blindness, congenital stationary , 1e, autosomal recessive 12.0
19 night blindness, congenital stationary, autosomal dominant 1 12.0
20 hereditary night blindness 12.0
21 autosomal recessive congenital stationary night blindness 12.0
22 night blindness, congenital stationary , 1c, autosomal recessive 12.0
23 night blindness, congenital stationary , 2a, x-linked 12.0
24 autosomal dominant congenital stationary night blindness 12.0
25 night blindness, congenital stationary, type 1g 11.9
26 congenital stationary night blindness 1h 11.9
27 blue color blindness 11.9
28 red-green color blindness 11.8
29 red color blindness 11.8
30 acquired night blindness 11.7
31 acquired color blindness 11.7
32 achromatopsia 11.7
33 rodrigues blindness 11.7
34 congenital stationary night blindness, type 2b 11.7
35 norrie disease 11.7
36 blind hypotensive eye 11.6
37 cortical blindness, retardation, and postaxial polydactyly 11.6
38 blind hypertensive eye 11.6
39 microcephaly microphthalmos blindness 11.6
40 scoliosis, arachnodactyly, and blindness 11.6
41 night blindness skeletal anomalies unusual facies 11.6
42 cortical blindness mental retardation polydactyly 11.6
43 chondroectodermal dysplasia with night blindness 11.6
44 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 11.6
45 ectodermal dysplasia blindness 11.6
46 bicervical bicornuate uterus and blind hemivagina 11.6
47 cacna1f-related x-linked congenital stationary night blindness 11.6
48 night blindness-skeletal anomalies-dysmorphism syndrome 11.6
49 nyx-related x-linked congenital stationary night blindness 11.6
50 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 11.6

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



Diseases related to Yemenite Deaf-Blind Hypopigmentation Syndrome

Symptoms & Phenotypes for Yemenite Deaf-Blind Hypopigmentation Syndrome

Symptoms by clinical synopsis from OMIM:

601706

Clinical features from OMIM:

601706

Human phenotypes related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 chorioretinal coloboma 32 HP:0000567
3 iris coloboma 32 HP:0000612
4 white forelock 32 HP:0002211
5 microcornea 32 HP:0000482
6 severe sensorineural hearing impairment 32 HP:0008625
7 patchy hypo- and hyperpigmentation 32 HP:0007509
8 numerous pigmented freckles 32 HP:0007587

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 ABCA4 CFH RPE65 SOX10
2 vision/eye MP:0005391 8.92 ABCA4 AIPL1 CFH RPE65

Drugs & Therapeutics for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

(show top 50) (show all 434)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Latanoprost Approved, Investigational Phase 4,Phase 3 130209-82-4 5282380 5311221
3
Timolol Approved Phase 4,Phase 3,Phase 2,Early Phase 1 26839-75-8 33624 5478
4
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
5
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
6
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
7
Zinc Approved Phase 4,Phase 2,Phase 3,Early Phase 1 7440-66-6 32051 23994
8
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
9
Brinzolamide Approved Phase 4,Phase 3 138890-62-7 68844
10
Nepafenac Approved Phase 4,Phase 3 78281-72-8 151075
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
12
Glimepiride Approved Phase 4 93479-97-1 3476
13
Metformin Approved Phase 4,Phase 2,Phase 3,Early Phase 1 657-24-9 14219 4091
14
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
15
Fluorouracil Approved Phase 4 51-21-8 3385
16
Verteporfin Approved, Investigational Phase 4,Phase 2 129497-78-5
17
Bimatoprost Approved, Investigational Phase 4,Phase 3 155206-00-1 5311027
18
Azithromycin Approved Phase 4,Phase 2 83905-01-5 55185 53477736 447043
19
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
20
Glipizide Approved Phase 4 29094-61-9 3478
21
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
22
Levodopa Approved Phase 4 59-92-7 6047
23
Cilostazol Approved Phase 4 73963-72-1 2754
24
Diethylcarbamazine Approved, Vet_approved Phase 4 90-89-1 3052
25
Ivermectin Approved, Vet_approved Phase 4,Phase 3,Phase 2 70288-86-7 6474909 46936176
26
Montelukast Approved Phase 4 158966-92-8 5281040
27
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
28
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
29
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
30
Methylprednisolone Approved, Vet_approved Phase 4,Phase 1,Phase 2 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 4,Phase 1,Phase 2 50-24-8 5755
32
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2 128794-94-5 5281078
33
Mycophenolic acid Approved Phase 4,Phase 2 24280-93-1 446541
34
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
35
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
36 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
37
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 11103-57-4, 68-26-8 445354
38
Maleic acid Experimental Phase 4 110-16-7 444266
39
Bromfenac Approved July 1997 Phase 4 91714-94-2 60726
40 Analgesics Phase 4,Phase 3,Phase 2
41 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2
42 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
44 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
45 Cyclooxygenase Inhibitors Phase 4
46 Ketorolac Tromethamine Phase 4
47 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
48 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
49 Carbonic Anhydrase Inhibitors Phase 4,Phase 2,Phase 3
50 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 532)
id Name Status NCT ID Phase
1 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4
2 The Laser in Pseudoexfoliation (LIP) Study Unknown status NCT01704989 Phase 4
3 Healthy Volunteer Study of Sildenafil Effects Upon Vision Completed NCT00251784 Phase 4
4 A Trial of Non-absorbable Versus Absorbable Sutures for Trichiasis Surgery Completed NCT00522860 Phase 4
5 24-Hour Glycemia: Rosiglitazone Versus Glimepiride In Type 2 Diabetes Completed NCT00318656 Phase 4
6 Outcomes of Intraoperative 5-Fluorouracil Versus Mitomycin C Completed NCT00346489 Phase 4
7 Photodynamic Therapy in Occult-Only Lesions (POOL) Completed NCT00135837 Phase 4
8 Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With POAG Completed NCT01978015 Phase 4
9 Glaucoma Biomarkers Completed NCT01677507 Phase 4
10 Partnership for Rapid Elimination of Trachoma Completed NCT00792922 Phase 4
11 Study of Azithromycin to Prevent Recurrent Trichiasis Following Surgery in Ethiopia Completed NCT00347776 Phase 4
12 Study on the Prognosis and Effect of Anti-diabetic Drugs on Type-2 Diabetes Mellitus With Coronary Artery Disease Completed NCT00513630 Phase 4
13 Unilateral Bevacizumab for Bilateral Diabetic Macular Edema Completed NCT00496405 Phase 4
14 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
15 Rosiglitazone and Insulin in T1DM Adolescents Completed NCT00372086 Phase 4
16 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4
17 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
18 The Effects of Anti-Inflammatory Treatment on Insulin Resistance in Healthy Volunteers Completed NCT00339833 Phase 4
19 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4
20 Impact of Two Alternative Dosing Strategies for Trachoma Control in Niger Completed NCT00618449 Phase 4
21 The Use of Cilostazol in Patients With Diabetic Nephropathy Completed NCT00272831 Phase 4
22 Post-treatment Effects of Ivermectin (IVM) or Diethylcarbamazine (DEC) in Loiasis Completed NCT01593722 Phase 4
23 Time-Effect of Montelukast Protection Completed NCT00935415 Phase 4
24 Retropubic Single Incision Minisling Versus Tension Free Vaginal Tape for Management of Stress Urinary Incontinence Completed NCT02263534 Phase 4
25 Comparison of Brimonidine Purite, Dorzolamide, and Brinzolamide as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4
26 Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4
27 Effect of Nitrous Oxide (N2O) on Intraocular Pressure in Healthy Volunteers Completed NCT00967694 Phase 4
28 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4
29 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Recruiting NCT02161575 Phase 4
30 Frozen Versus Fresh Corneal Carriers for the Boston KPro Type I Donor Carriers Enrolling by invitation NCT01950598 Phase 4
31 Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients Enrolling by invitation NCT02809079 Phase 4
32 VEGF Concentrations After Intravitreal Bevacizumab vs Ranibizumab as a Treatment for Type 1 ROP Not yet recruiting NCT03148132 Phase 4
33 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy Not yet recruiting NCT03052998 Phase 4
34 Greater Occipital Nerve (GON) Block Effectivity in the Treatment of Chronic Migraine: 6 Months Follow up Not yet recruiting NCT02578719 Phase 4
35 Longtime Efficiency of Combined Cataract-Surgery and Excimer-Laser-Trabeculotomy in Glaucoma Surgery Terminated NCT01194310 Phase 4
36 Study Trial of Dexamethasone Use for Alleviation of Symptoms After Scleral Buckle Eye Surgery Withdrawn NCT01326585 Phase 4
37 Azithromycin in Control of Trachoma II Withdrawn NCT00286026 Phase 4
38 Safety Study of Combined Azithromycin, Ivermectin and Albendazole for Trachoma and Lymphatic Filariasis Withdrawn NCT01903057 Phase 4
39 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3
40 Argon Laser Peripheral Iridoplasty for Primary Angle Closure Glaucoma Unknown status NCT00980473 Phase 3
41 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of NA-AION Unknown status NCT02329288 Phase 3
42 Copaxone in Age Related Macular Degeneration Unknown status NCT00466076 Phase 2, Phase 3
43 Rheohemapheresis and Lutein Supplementation in the Non-Exsudative Form of Age-Related Macular Degeneration Unknown status NCT00443911 Phase 3
44 Efficacy Study of Triamcinolone Associated With Nepafenac for Treatment of Diabetic Macular Edema Unknown status NCT00780780 Phase 3
45 Intraocular Pressure (IOP) Lowering Effect of Selective Laser Trabeculoplasty Versus Prostaglandin Analogues in Angle Closure Glaucoma Unknown status NCT01004900 Phase 3
46 Paraorbital-Occipital Alternating Current Stimulation Therapy of Patients With Post-Chiasmatic Lesions Unknown status NCT01418820 Phase 2, Phase 3
47 E-learning: Teaching of Blindness Prevention Completed NCT01249586 Phase 3
48 The Extract of Green Tea on Obese Women: a Randomized Double Blindness Clinical Trial Completed NCT00383058 Phase 3
49 Early Treatment Diabetic Retinopathy Study (ETDRS) Completed NCT00000151 Phase 3
50 Diabetic Retinopathy Study (DRS) Completed NCT00000160 Phase 3

Search NIH Clinical Center for Yemenite Deaf-Blind Hypopigmentation Syndrome

Cochrane evidence based reviews: blindness

Genetic Tests for Yemenite Deaf-Blind Hypopigmentation Syndrome

Anatomical Context for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

39
Skin

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

id Title Authors Year
1
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. ( 10441344 )
1999
2
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome. ( 2280978 )
1990

Variations for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
2 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
3 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh38 Chromosome 1, 230995876: 230995876
4 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
5 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
6 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
7 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh37 Chromosome 12, 88513898: 88513901
8 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh38 Chromosome 12, 88102888: 88102888

Expression for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

Pathways for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 ABCA4 RPE65

GO Terms for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 ABCA4 AIPL1 RPE65
2 retinoid metabolic process GO:0001523 9.26 ABCA4 RPE65
3 retina homeostasis GO:0001895 9.16 AIPL1 RPE65
4 visual perception GO:0007601 9.13 ABCA4 AIPL1 RPE65
5 phototransduction, visible light GO:0007603 8.62 ABCA4 AIPL1

Sources for Yemenite Deaf-Blind Hypopigmentation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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