MCID: YMN001
MIFTS: 39

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 54 50 56 71 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 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive


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

NIH Rare Diseases : 50 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 deaf blind hypopigmentation syndrome, yemenite type, is related to leber congenital amaurosis 9 and macular degeneration, age-related, 1, and has symptoms including nystagmus, microcornea and iris coloboma. 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 nervous 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 1447)
id Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 9 31.0 AIPL1 RPE65
2 macular degeneration, age-related, 1 29.3 ABCA4 CFH RPE65 VEGFA
3 impetigo 28.7 ABCA4 AIPL1 CEP290 RPE65
4 tendinitis 28.5 ABCA4 MYO7A RPE65
5 limbal stem cell deficiency 27.2 ABCA4 AIPL1 CEP290 MYO7A RPE65
6 color blindness 12.2
7 night blindness 12.2
8 congenital stationary night blindness 12.1
9 hereditary night blindness 12.1
10 x-linked congenital stationary night blindness 12.1
11 blind loop syndrome 12.1
12 cortical blindness 12.1
13 night blindness, congenital stationary , 1b, autosomal recessive 12.0
14 night blindness, congenital stationary , 1a, x-linked 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 , 1d, autosomal recessive 12.0
18 autosomal recessive congenital stationary night blindness 12.0
19 night blindness, congenital stationary , 1f, autosomal recessive 12.0
20 night blindness, congenital stationary , 1e, autosomal recessive 12.0
21 night blindness, congenital stationary, autosomal dominant 1 12.0
22 night blindness, congenital stationary, type 1h 12.0
23 autosomal dominant congenital stationary night blindness 12.0
24 night blindness, congenital stationary , 2a, x-linked 12.0
25 night blindness, congenital stationary , 1c, autosomal recessive 12.0
26 night blindness, congenital stationary, type 1g 11.9
27 seizures, cortical blindness, microcephaly syndrome 11.9
28 blue color blindness 11.8
29 red-green color blindness 11.8
30 red color blindness 11.8
31 acquired night blindness 11.7
32 acquired color blindness 11.7
33 achromatopsia 11.7
34 rodrigues blindness 11.7
35 congenital stationary night blindness, type 2b 11.7
36 norrie disease 11.7
37 scoliosis, arachnodactyly, and blindness 11.6
38 cortical blindness, retardation, and postaxial polydactyly 11.6
39 onchocerciasis 11.6
40 bicervical bicornuate uterus and blind hemivagina 11.6
41 night blindness skeletal anomalies unusual facies 11.6
42 cortical blindness mental retardation polydactyly 11.6
43 cacna1f-related x-linked congenital stationary night blindness 11.6
44 night blindness-skeletal anomalies-dysmorphism syndrome 11.6
45 nyx-related x-linked congenital stationary night blindness 11.6
46 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 11.6
47 blind hypotensive eye 11.6
48 ectodermal dysplasia blindness 11.6
49 chondroectodermal dysplasia with night blindness 11.6
50 blind hypertensive eye 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 via clinical synopsis from OMIM:

54

Eyes:
microcornea
iris coloboma
choroid coloboma
nystagmus

Skin:
patchy hypo- and hyperpigmentation
multiple freckles

Ears:
severe early sensorineural hearing loss

Hair:
white anterior scalp hair


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 microcornea 32 HP:0000482
3 iris coloboma 32 HP:0000612
4 white forelock 32 HP:0002211
5 chorioretinal coloboma 32 HP:0000567
6 numerous pigmented freckles 32 HP:0007587
7 patchy hypo- and hyperpigmentation 32 HP:0007509
8 severe sensorineural hearing impairment 32 HP:0008625

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 ABCA4 CEP290 CFH MYO7A OPTN RPE65
2 nervous system MP:0003631 9.76 RPE65 SOX10 VEGFA ABCA4 AIPL1 CEP290
3 immune system MP:0005387 9.65 CEP290 CFH OPTN RPE65 VEGFA
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

Anatomical Context for Yemenite Deaf-Blind Hypopigmentation Syndrome

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

39
Eye, 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/Likely 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
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:

id 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:

id 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

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 CEP290 OPTN SOX10 VEGFA

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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