MCID: YMN001
MIFTS: 47

Yemenite Deaf-Blind Hypopigmentation Syndrome

Categories: Rare diseases, Ear diseases, Skin diseases, Fetal 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 red-green color blindness and congenital stationary night 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. Affiliated tissues include eye and skin, 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 1632)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.5 ABCA4 RHO RPE65
2 congenital stationary night blindness 33.5 ABCA4 AIPL1 RHO RPE65
3 tritanopia 32.4 GUCY2D RHO
4 stargardt disease 1 31.7 ABCA4 RHO
5 leber congenital amaurosis 10 31.6 CEP290 RPE65
6 usher syndrome 31.4 MYO7A RPGR USH2A
7 usher syndrome, type id 31.3 MYO7A USH2A
8 usher syndrome, type i 31.2 MYO7A RHO USH2A
9 retinitis pigmentosa 3 31.2 ABCA4 RPGR
10 coats disease 31.0 RHO VEGFA
11 achromatopsia 3 30.9 AIPL1 GUCY2D RPE65
12 macular degeneration, age-related, 1 30.5 ABCA4 CFH RHO RPE65 VEGFA
13 usher syndrome, type iiia 30.2 MYO7A USH2A
14 usher syndrome, type iid 30.1 MYO7A RHO RPGR USH2A
15 stargardt disease 30.1 ABCA4 MYO7A RHO RPE65 RPGR
16 leber congenital amaurosis 9 30.1 AIPL1 GUCY2D RPE65
17 retinitis pigmentosa 26 29.5 GUCY2D RPGR
18 leber congenital amaurosis 4 29.1 AIPL1 GUCY2D RPE65
19 cone-rod dystrophy 2 28.7 ABCA4 AIPL1 GUCY2D RHO RPE65 RPGR
20 retinal degeneration 28.3 ABCA4 AIPL1 GUCY2D MYO7A RHO RPE65
21 leber congenital amaurosis 28.1 ABCA4 AIPL1 CEP290 GUCY2D MYO7A RHO
22 keratoconus 28.0 AIPL1 GUCY2D RPE65
23 retinitis pigmentosa 27.5 ABCA4 AIPL1 CEP290 GUCY2D MYO7A RHO
24 retinal disease 26.3 ABCA4 AIPL1 CEP290 CFH GUCY2D MYO7A
25 fundus dystrophy 25.1 ABCA4 AIPL1 CEP290 GUCY2D MYO7A RHO
26 color blindness 12.3
27 night blindness, congenital stationary, type 1a 12.3
28 night blindness 12.3
29 hereditary night blindness 12.3
30 night blindness, congenital stationary, type 1b 12.3
31 x-linked congenital stationary night blindness 12.3
32 night blindness, congenital stationary, type 2a 12.3
33 blind loop syndrome 12.2
34 cortical blindness 12.2
35 night blindness, congenital stationary, type 1d 12.1
36 night blindness, congenital stationary, type 1e 12.1
37 night blindness, congenital stationary, type 1f 12.1
38 night blindness, congenital stationary, autosomal dominant 2 12.1
39 night blindness, congenital stationary, autosomal dominant 3 12.1
40 night blindness, congenital stationary, autosomal dominant 1 12.1
41 night blindness, congenital stationary, type 1h 12.1
42 night blindness, congenital stationary, type 1c 12.1
43 autosomal recessive congenital stationary night blindness 12.1
44 night blindness, congenital stationary, type 1g 12.1
45 seizures, cortical blindness, and microcephaly syndrome 12.1
46 autosomal dominant congenital stationary night blindness 12.1
47 night blindness-skeletal anomalies-dysmorphism syndrome 12.0
48 cortical blindness-intellectual disability-polydactyly syndrome 11.9
49 acquired night blindness 11.8
50 acquired color blindness 11.8

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 10.06 GUCY2D MYO7A OPTN RHO RPE65 SOX10
2 nervous system MP:0003631 10.03 ABCA4 AIPL1 CEP290 CFH GUCY2D MYO7A
3 no phenotypic analysis MP:0003012 9.63 MYO7A OPTN RHO RPGR SOX10 VEGFA
4 pigmentation MP:0001186 9.56 ABCA4 CEP290 CFH MYO7A RHO RPE65
5 vision/eye MP:0005391 9.36 RHO RPE65 RPGR USH2A VEGFA ABCA4

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

Publications for Yemenite Deaf-Blind Hypopigmentation Syndrome

Articles related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

# 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
(show all 25)
# 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 Translocation Likely pathogenic
16 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh37 Chromosome 12, 88513898: 88513901
17 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh38 Chromosome 12, 88120121: 88120124
18 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh38 Chromosome 12, 88102888: 88102888
19 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh37 Chromosome 12, 88496665: 88496665
20 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 GRCh37 Chromosome MT, 14598: 14598
21 MT-ND6 NC_012920.1: m.14598T> C single nucleotide variant Likely pathogenic rs1057518882 GRCh38 Chromosome MT, 14598: 14598
22 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 55870851: 55870851
23 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 56097986: 56097986
24 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
25 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 8.92 AIPL1 MYO7A RHO USH2A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.69 CEP290 MYO7A RPGR
2 retinoid metabolic process GO:0001523 9.61 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.54 ABCA4 RHO USH2A
4 eye photoreceptor cell development GO:0042462 9.5 CEP290 MYO7A VEGFA
5 response to stimulus GO:0050896 9.5 ABCA4 AIPL1 GUCY2D RHO RPE65 RPGR
6 response to light stimulus GO:0009416 9.49 RHO RPE65
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.48 GUCY2D RHO
8 inner ear receptor cell differentiation GO:0060113 9.46 MYO7A USH2A
9 sensory perception of light stimulus GO:0050953 9.43 MYO7A RHO USH2A
10 regulation of cGMP metabolic process GO:0030823 9.4 AIPL1 VEGFA
11 phototransduction, visible light GO:0007603 9.33 ABCA4 AIPL1 RHO
12 visual perception GO:0007601 9.23 ABCA4 AIPL1 GUCY2D MYO7A RHO RPE65

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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