YDBHS
MCID: YMN001
MIFTS: 57

Yemenite Deaf-Blind Hypopigmentation Syndrome (YDBHS)

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

Aliases & Classifications for Yemenite Deaf-Blind Hypopigmentation Syndrome

MalaCards integrated aliases for Yemenite Deaf-Blind Hypopigmentation Syndrome:

Name: Yemenite Deaf-Blind Hypopigmentation Syndrome 57 76 53 59 75 55 73
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 75

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:



Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3214Disease definitionYemenite 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. Affiliated tissues include eye, skin and brain, and related phenotypes are nystagmus and gait disturbance

UniProtKB/Swiss-Prot : 75 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

Wikipedia : 76 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 1978)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 33.8 ABCA4 AIPL1 RHO RPE65
2 red-green color blindness 33.4 ABCA4 RHO RPE65
3 usher syndrome 31.8 MYO7A RPGR USH2A
4 prolonged electroretinal response suppression 31.5 ABCA4 CRB1 GUCY2D
5 achromatopsia 3 31.5 AIPL1 CRB1 GUCY2D RPE65
6 optic disk drusen 31.4 CRB1 RHO VEGFA
7 usher syndrome, type i 31.4 MYO7A RHO USH2A
8 macular degeneration, age-related, 1 31.3 ABCA4 CFH CRB1 RHO RPE65 VEGFA
9 retinitis pigmentosa 19 31.3 ABCA4 RHO
10 leber congenital amaurosis 10 31.2 CEP290 RPE65
11 stargardt disease 1 31.2 ABCA4 RHO
12 usher syndrome, type id 31.2 MYO7A USH2A
13 leber congenital amaurosis 31.1 ABCA4 AIPL1 CEP290 CRB1 GUCY2D MYO7A
14 usher syndrome, type iic 31.0 CRB1 MYO7A USH2A
15 coats disease 31.0 CRB1 RHO VEGFA
16 stargardt disease 30.8 ABCA4 CRB1 MYO7A RHO RPE65 RPGR
17 usher syndrome, type iid 30.8 MYO7A RHO RPGR USH2A
18 cone-rod dystrophy 2 30.7 ABCA4 AIPL1 GUCY2D RHO RPE65 RPGR
19 leber congenital amaurosis 9 30.7 AIPL1 CRB1 GUCY2D RPE65
20 retinal degeneration 30.2 ABCA4 AIPL1 CHM CRB1 GUCY2D MYO7A
21 retinitis pigmentosa 30.1 ABCA4 AIPL1 CEP290 CHM CRB1 GUCY2D
22 retinal disease 29.9 ABCA4 AIPL1 CEP290 CFH CRB1 GUCY2D
23 leber congenital amaurosis 4 29.9 AIPL1 GUCY2D RPE65
24 kuhnt-junius degeneration 29.6 CFH VEGFA
25 macular retinal edema 29.6 CRB1 VEGFA
26 endophthalmitis 29.4 OPTN VEGFA
27 low tension glaucoma 29.3 OPTN RHO
28 retinitis pigmentosa-deafness syndrome 29.2 MYO7A USH2A
29 acute closed-angle glaucoma 29.1 CHM OPTN
30 hereditary retinal dystrophy 29.0 CEP290 GUCY2D RHO
31 keratoconus 28.9 AIPL1 CRB1 GUCY2D RPE65
32 ewing sarcoma 28.4 ABCA4 CHM OPTN RHO VEGFA
33 fundus dystrophy 27.6 ABCA4 AIPL1 CEP290 CHM CRB1 GUCY2D
34 color blindness 12.5
35 night blindness, congenital stationary, type 1a 12.5
36 night blindness 12.5
37 night blindness, congenital stationary, type 1b 12.4
38 x-linked congenital stationary night blindness 12.4
39 night blindness, congenital stationary, type 2a 12.4
40 blind loop syndrome 12.4
41 night blindness, congenital stationary, autosomal dominant 2 12.4
42 cortical blindness 12.4
43 night blindness, congenital stationary, type 1d 12.3
44 night blindness, congenital stationary, type 1f 12.3
45 night blindness, congenital stationary, type 1e 12.3
46 night blindness, congenital stationary, autosomal dominant 3 12.3
47 night blindness, congenital stationary, autosomal dominant 1 12.3
48 night blindness, congenital stationary, type 1c 12.3
49 night blindness, congenital stationary, type 1h 12.3
50 autosomal recessive congenital stationary night blindness 12.3

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 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

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

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

Drugs & Therapeutics for Yemenite Deaf-Blind Hypopigmentation Syndrome

Search Clinical Trials , 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:

41
Eye, Skin, Brain, Lung, Bone, Cortex, Kidney

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

(show top 50) (show all 701)
# Title Authors Year
1
Impact of blindness due to cataract in elderly fallers: findings from a cross-sectional study in Andhra Pradesh, South India. ( 30373667 )
2018
2
Reducing inequity of cataract blindness and vision impairment is a global priority, but where is the evidence? ( 29844087 )
2018
3
Outcomes and Predictive Factors After Cataract Surgery in Patients With Neovascular Age-related Macular Degeneration. The Fight Retinal Blindness! Project. ( 29550186 )
2018
4
First Rapid Assessment of Avoidable Blindness Survey in the Maldives: Prevalence and Causes of Blindness and Cataract Surgery. ( 29165934 )
2018
5
Prevalence of blindness and cataract surgical coverage in Narayani Zone, Nepal: a rapid assessment of avoidable blindness (RAAB) study. ( 29055904 )
2018
6
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. ( 30477452 )
2018
7
Orbital compartment syndrome resulting in unilateral blindness in two dogs. ( 30538937 )
2018
8
Acute Monocular Blindness Due to Orbital Compartment Syndrome Following Pterional Craniotomy. ( 29545222 )
2018
9
Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association. ( 30051303 )
2018
10
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F. ( 30067413 )
2018
11
Transient cortical blindness in posterior reversible encephalopathy syndrome after postpartum eclampsia. ( 30038892 )
2018
12
Transient Cortical Blindness Associated with Endovascular Procedures for Intracranial Aneurysms. ( 30077753 )
2018
13
Delayed cortical blindness in hypoxic-ischemic encephalopathy. ( 30505959 )
2018
14
The impact of anti-vascular endothelial growth factor agents on visual impairment/blindness prevention in patients with diabetic macular edema and on associated patient and caregiver burden in Japan. ( 30550375 )
2018
15
A case report of isolated orbital vasculitis mimicking retinal migraine: A potential cause of recurrent transient monocular blindness and ipsilateral headache. ( 30099954 )
2018
16
Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome. ( 28275964 )
2018
17
Sudden blindness and deafness disclosing meningeal carcinomatosis in non-small cell lung cancer. ( 30523521 )
2018
18
CCDC102B confers risk of low vision and blindness in high myopia. ( 29725004 )
2018
19
The first Japanese report on neuromyelitis optica rediscovered: acute bilateral blindness, tetraparesis and respiratory insufficiency in a 35-year-old man (1891). ( 30312903 )
2018
20
Traumatic Optic Neuropathy and Monocular Blindness following Transnasal Penetrating Optic Canal Injury by a Wooden Foreign Body. ( 30057545 )
2018
21
Cuban Epidemic Optic Neuropathy (1991-1993) and José Saramago's Novel Blindness (1995). ( 29906432 )
2018
22
Night Blindness, Bitot's Spot & Vitamin A Deficiency. ( 30265370 )
2018
23
Night Blindness, Ring Scotoma, and a Nonrecordable Electroretinogram in an Elderly Woman. ( 30452517 )
2018
24
Identifying risk factors for blindness from primary open-angle glaucoma by race: a case-control study. ( 29503525 )
2018
25
A Case of Hyaluronic Acid Induced Blindness With Ophthalmoplegia and Ptosis. ( 30320722 )
2018
26
Acute bilateral retinal artery occlusion causing sudden blindness in 25-year-old patient. ( 29534917 )
2018
27
Congenital blindness is protective for schizophrenia and other psychotic illness. A whole-population study. ( 30539775 )
2018
28
Motion-induced blindness for dynamic targets: Further explorations of the perceptual scotoma hypothesis. ( 30267076 )
2018
29
Charles Dickens, trachoma, and blindness in pre-Victorian England. ( 29056503 )
2018
30
How Adolescents with Autism Spectrum Disorder (ASD) Spontaneously Attend to Real-World Scenes: Use of a Change Blindness Paradigm. ( 29076035 )
2018
31
Acute blindness as a presenting sign of childhood endemic Burkitt's lymphoma in Cameroon: a case report. ( 29764474 )
2018
32
Vitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income Setting. ( 29610168 )
2018
33
Results of the National Program for the Prevention of Blindness in Childhood by Retinopathy of Prematurity in Argentina (2004-2016). ( 30457716 )
2018
34
Reducing Blindness from Retinopathy of Prematurity (ROP) in Argentina Through Collaboration, Advocacy and Policy Implementation. ( 29668967 )
2018
35
Dignified blindness and age-related macular degeneration. A necessary multidisciplinary approach. ( 29929760 )
2018
36
Clinical and social characteristics associated with reduced visual acuity at presentation in Australian patients with neovascular age-related macular degeneration: a prospective study from a long-term observational data set. The Fight Retinal Blindness! Project. ( 28842956 )
2018
37
Reversible Blindness as Presenting Manifestation of Severe Diabetic Ketoacidosis. ( 30454845 )
2018
38
Reversible blindness secondary to severe diabetic ketoacidosis. ( 30488886 )
2018
39
Pachymeningeal Involvement with Blindness as the Presenting Manifestation of Non-Hodgkin Lymphoma. ( 27873742 )
2018
40
Rapid assessment of avoidable blindness and diabetic retinopathy in people aged 50 years and older in the National Capital District of Papua New Guinea. ( 29973367 )
2018
41
Feasibility of the rapid assessment of avoidable blindness with diabetic retinopathy module (RAAB+DR) in industrialised countries: challenges and lessons learned in Hungary. ( 29431547 )
2018
42
iPhone-Based Device Helps Treat River Blindness. ( 29318257 )
2018
43
A new powerful drug to combat river blindness. ( 29361336 )
2018
44
Transitioning from river blindness control to elimination: steps toward stopping treatment. ( 29471338 )
2018
45
From river blindness control to elimination: bridge over troubled water. ( 29587844 )
2018
46
River blindness: reducing the prevalence of clinical disease. ( 29915468 )
2018
47
Creative use of the priority review voucher by public and not-for-profit actors delivers the first new FDA-approved treatment for river blindness in 20 years. ( 30439940 )
2018
48
Transient monocular blindness: Vascular causes and differential diagnoses. ( 29673627 )
2018
49
Investigating Methods to Prevent Blindness From Facial Fat Injections. ( 29978184 )
2018
50
On Blindness and Blind Spots. ( 29987089 )
2018

Variations for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

6 (show all 24)
# 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 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh38 Chromosome 12, 88083936: 88083936
3 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
4 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh38 Chromosome 1, 216325499: 216325499
5 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
6 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 GRCh38 Chromosome 1, 94000870: 94000870
7 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh38 Chromosome 1, 230995876: 230995876
8 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh37 Chromosome 1, 231131622: 231131622
9 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
10 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
11 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
12 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh38 Chromosome 9, 136418630: 136418630
13 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
14 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh37 Chromosome 9, 139313299: 139313299
15 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh37 Chromosome 12, 88513898: 88513901
16 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh38 Chromosome 12, 88120121: 88120124
17 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh38 Chromosome 12, 88102888: 88102888
18 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh37 Chromosome 12, 88496665: 88496665
19 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 GRCh37 Chromosome MT, 14598: 14598
20 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 GRCh38 Chromosome MT, 14598: 14598
21 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 55870851: 55870851
22 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 56097986: 56097986
23 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
24 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh38 Chromosome 3, 129532727: 129532727

Expression for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

Pathways for Yemenite Deaf-Blind Hypopigmentation Syndrome

GO Terms for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.5 CEP290 RPGR USH2A
2 photoreceptor connecting cilium GO:0032391 9.43 CEP290 MYO7A USH2A
3 photoreceptor disc membrane GO:0097381 9.33 ABCA4 GUCY2D RHO
4 photoreceptor outer segment GO:0001750 9.26 ABCA4 MYO7A RHO RPGR
5 photoreceptor inner segment GO:0001917 9.02 AIPL1 CRB1 MYO7A RHO USH2A

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 ABCA4 AIPL1 CHM GUCY2D RHO RPE65
2 retinoid metabolic process GO:0001523 9.61 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.58 ABCA4 RHO USH2A
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.54 AIPL1 GUCY2D RHO
5 sensory perception of light stimulus GO:0050953 9.5 MYO7A RHO USH2A
6 response to light stimulus GO:0009416 9.49 RHO RPE65
7 positive regulation of neuroblast proliferation GO:0002052 9.48 SOX10 VEGFA
8 inner ear receptor cell differentiation GO:0060113 9.46 MYO7A USH2A
9 phototransduction, visible light GO:0007603 9.43 ABCA4 AIPL1 RHO
10 visual perception GO:0007601 9.28 ABCA4 AIPL1 CHM GUCY2D MYO7A RHO
11 eye photoreceptor cell development GO:0042462 9.26 CEP290 CRB1 MYO7A VEGFA

Sources for Yemenite Deaf-Blind Hypopigmentation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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