MCID: YMN001
MIFTS: 45

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 53 72 49 55 71 51 69
Blindness 41 28
Deaf Blind Hypopigmentation Syndrome, Yemenite Type 55
Yemenite Deaf-Blind Hypopigmentation Syndrome 49
Warburg Thomsen Syndrome 49
Warburg-Thomsen Syndrome 55
Ydbhs 71

Characteristics:

Orphanet epidemiological data:

55
deaf blind hypopigmentation syndrome, yemenite type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
yemenite deaf-blind hypopigmentation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Yemenite Deaf-Blind Hypopigmentation Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/30/2015

MalaCards based summary : Yemenite Deaf-Blind Hypopigmentation Syndrome, also known as blindness, is related to congenital stationary night blindness and red-green color blindness, and has symptoms including nystagmus, gait disturbance and sensorineural hearing impairment. An important gene associated with Yemenite Deaf-Blind Hypopigmentation Syndrome is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). Affiliated tissues include eye and skin, and related phenotypes are homeostasis/metabolism and immune system

UniProtKB/Swiss-Prot : 71 Yemenite deaf-blind hypopigmentation syndrome: A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.

Wikipedia : 72 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 448)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 33.3 ABCA4 AIPL1 RPE65
2 red-green color blindness 33.0 ABCA4 RPE65
3 achromatopsia 3 31.7 AIPL1 RPE65
4 leber congenital amaurosis 10 31.2 CEP290 RPE65
5 leber congenital amaurosis 31.1 ABCA4 AIPL1 CEP290 MYO7A RPE65
6 leber congenital amaurosis 9 31.0 AIPL1 RPE65
7 cone-rod dystrophy 2 30.9 ABCA4 AIPL1 RPE65
8 stargardt disease 30.8 ABCA4 MYO7A RPE65
9 retinal degeneration 30.6 ABCA4 AIPL1 MYO7A RPE65
10 macular degeneration, age-related, 1 30.4 ABCA4 CFH RPE65 VEGFA
11 retinitis pigmentosa 30.3 ABCA4 AIPL1 CEP290 MYO7A RPE65
12 retinal disease 29.5 ABCA4 AIPL1 CEP290 CFH MYO7A RPE65
13 color blindness 12.3
14 night blindness 12.3
15 night blindness, congenital stationary, type 1a 12.3
16 hereditary night blindness 12.3
17 night blindness, congenital stationary, type 1b 12.3
18 x-linked congenital stationary night blindness 12.2
19 blind loop syndrome 12.2
20 night blindness, congenital stationary, type 2a 12.2
21 night blindness, congenital stationary, type 1e 12.2
22 cortical blindness 12.2
23 night blindness, congenital stationary, autosomal dominant 2 12.2
24 night blindness, congenital stationary, type 1d 12.1
25 night blindness, congenital stationary, type 1f 12.1
26 autosomal recessive congenital stationary night blindness 12.1
27 night blindness, congenital stationary, autosomal dominant 3 12.1
28 night blindness, congenital stationary, autosomal dominant 1 12.1
29 night blindness, congenital stationary, type 1h 12.1
30 night blindness, congenital stationary, type 1c 12.1
31 autosomal dominant congenital stationary night blindness 12.1
32 seizures, cortical blindness, and microcephaly syndrome 12.1
33 night blindness, congenital stationary, type 1g 12.1
34 night blindness-skeletal anomalies-dysmorphism syndrome 12.0
35 cortical blindness-intellectual disability-polydactyly syndrome 11.9
36 acquired night blindness 11.8
37 acquired color blindness 11.8
38 rodrigues blindness 11.8
39 achromatopsia 11.8
40 norrie disease 11.8
41 cortical blindness, retardation, and postaxial polydactyly 11.8
42 scoliosis, arachnodactyly, and blindness 11.8
43 blind hypotensive eye 11.8
44 blind hypertensive eye 11.8
45 microcephaly microphthalmos blindness 11.8
46 tritanopia 11.8
47 onchocerciasis 11.7
48 oguchi disease 1 11.7
49 polycystic kidney, cataract, and congenital blindness 11.7
50 ectodermal dysplasia blindness 11.7

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:

53
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:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
5 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 delayed eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000684
7 high, narrow palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0002705
8 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
9 hypopigmentation of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0005599
10 short philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000322
11 multiple cafe-au-lait spots 55 31 hallmark (90%) Very frequent (99-80%) HP:0007565
12 taurodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000679
13 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348
14 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
15 microcornea 55 31 frequent (33%) Frequent (79-30%) HP:0000482
16 iris hypopigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007730
17 freckling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001480
18 hyperpigmentation of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000953
19 macrodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001572
20 anterior synechiae of the anterior chamber 55 31 frequent (33%) Frequent (79-30%) HP:0011483
21 abnormal size of the palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0200007
22 chorioretinal coloboma 31 HP:0000567
23 high-grade hypermetropia 55 Occasional (29-5%)
24 white forelock 31 HP:0002211
25 severe sensorineural hearing impairment 31 HP:0008625
26 patchy hypo- and hyperpigmentation 31 HP:0007509
27 numerous pigmented freckles 31 HP:0007587
28 high hypermetropia 31 occasional (7.5%) HP:0008499

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 ABCA4 CEP290 CFH MYO7A OPTN RPE65
2 immune system MP:0005387 9.8 ABCA4 CEP290 CFH MYO7A OPTN RPE65
3 nervous system MP:0003631 9.76 VEGFA ABCA4 AIPL1 CEP290 CFH MYO7A
4 pigmentation MP:0001186 9.43 ABCA4 CEP290 CFH MYO7A RPE65 SOX10
5 vision/eye MP:0005391 9.17 ABCA4 AIPL1 CEP290 CFH MYO7A RPE65

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

Genetic tests related to Yemenite Deaf-Blind Hypopigmentation Syndrome:

# Genetic test Affiliating Genes
1 Blindness 28

Anatomical Context for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

38
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
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
2 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh38 Chromosome 1, 230995876: 230995876
3 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
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 GRCh37 Chromosome 12, 88496665: 88496665

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 ABCA4 MYO7A RPE65
2
Show member pathways
10.54 ABCA4 MYO7A RPE65

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 photoreceptor outer segment GO:0001750 9.16 ABCA4 MYO7A
2 photoreceptor inner segment GO:0001917 8.96 AIPL1 MYO7A
3 photoreceptor connecting cilium GO:0032391 8.62 CEP290 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.43 ABCA4 RPE65
2 retina homeostasis GO:0001895 9.4 AIPL1 RPE65
3 cell maturation GO:0048469 9.37 SOX10 VEGFA
4 positive regulation of neuroblast proliferation GO:0002052 9.32 SOX10 VEGFA
5 phototransduction, visible light GO:0007603 9.26 ABCA4 AIPL1
6 visual perception GO:0007601 9.26 ABCA4 AIPL1 MYO7A RPE65
7 regulation of cGMP metabolic process GO:0030823 9.16 AIPL1 VEGFA
8 eye photoreceptor cell development GO:0042462 8.8 CEP290 MYO7A VEGFA

Sources for Yemenite Deaf-Blind Hypopigmentation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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