MCID: WRD031
MIFTS: 34

Waardenburg Syndrome, Type 3

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

Aliases & Classifications for Waardenburg Syndrome, Type 3

MalaCards integrated aliases for Waardenburg Syndrome, Type 3:

Name: Waardenburg Syndrome, Type 3 53 49 13
Klein-Waardenburg Syndrome 53 12 49 55 71 51
Ws3 53 12 49 55 71
Waardenburg Syndrome with Upper Limb Anomalies 53 12 49 71
Waardenburg Syndrome Type 3 12 72 49 55
Waardenburg Syndrome Type Iii 12 55
White Forelock Syndrome with Multiple Congenital Malformations 49
Waardenburg Syndrome with Limb Anomalies 55
White Forelock with Malformations 71
Waardenburg Syndrome, Type Iii 53
Waardenburg Syndrome 3 71
Klein's Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
waardenburg syndrome type 3
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
both heterozygous and homozygous pax3 mutations have been found


HPO:

31
waardenburg syndrome, type 3:
Onset and clinical course variable expressivity
Inheritance autosomal dominant contiguous gene syndrome autosomal recessive inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 3

OMIM : 53 Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). (148820)

MalaCards based summary : Waardenburg Syndrome, Type 3, also known as klein-waardenburg syndrome, is related to white forelock with malformations and waardenburg syndrome, type 2b, and has symptoms including joint stiffness, intellectual disability and hearing impairment. An important gene associated with Waardenburg Syndrome, Type 3 is PAX3 (Paired Box 3). Affiliated tissues include skin, eye and bone.

Disease Ontology : 12 A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has material basis in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Waardenburg syndrome.

UniProtKB/Swiss-Prot : 71 Waardenburg syndrome 3: WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.

Wikipedia : 72 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

Related Diseases for Waardenburg Syndrome, Type 3

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 3:



Diseases related to Waardenburg Syndrome, Type 3

Symptoms & Phenotypes for Waardenburg Syndrome, Type 3

Symptoms via clinical synopsis from OMIM:

53
SkeletalHands:
clinodactyly
brachydactyly
syndactyly, cutaneous
finger contractures
hypoplasia of the hand muscles

HeadAndNeckEyes:
blepharophimosis
synophrys
dystopia canthorum
heterochromia iridis (complete or partial)
hypopigmented iris
more
SkeletalFeet:
syndactyly

HeadAndNeckEars:
sensorineural deafness

SkeletalLimbs:
contractures of the upper limb joints
hypoplasia of the bones of the upper limbs and wrists

SkinNailsHairSkin:
hypopigmented skin patches
congenital partial albinism (leukoderma) on face, trunk, or limbs

SkinNailsHairHair:
white forelock
premature graying of the hair

HeadAndNeckFace:
prognathism

HeadAndNeckNose:
prominent nasal root
hypoplastic alae

NeurologicCentralNervousSystem:
mental retardation (reported in 1 patient)
spasticity (reported in 1 patient)


Clinical features from OMIM:

148820

Human phenotypes related to Waardenburg Syndrome, Type 3:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
3 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
4 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 thick eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0000574
6 acrocyanosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001063
7 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
8 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
9 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 atelectasis 55 31 frequent (33%) Frequent (79-30%) HP:0100750
11 blepharophimosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 narrow nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000446
13 spastic paraplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001258
14 tracheomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002779
15 synostosis of carpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0005048
16 cutaneous finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0010554
17 tented upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0010804
18 white hair 55 31 frequent (33%) Frequent (79-30%) HP:0011364
19 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
20 clinodactyly 31 HP:0030084
21 mandibular prognathia 31 HP:0000303
22 wide nasal bridge 31 HP:0000431
23 sensorineural hearing impairment 31 HP:0000407
24 scapular winging 31 HP:0003691
25 hypopigmented skin patches 31 HP:0001053
26 prominent nasal bridge 31 HP:0000426
27 heterochromia iridis 31 HP:0001100
28 premature graying of hair 31 HP:0002216
29 aganglionic megacolon 31 HP:0002251
30 abnormality of the face 55 Very frequent (99-80%)
31 blue irides 31 HP:0000635
32 brachydactyly 31 HP:0001156
33 white forelock 31 HP:0002211
34 abnormality of finger 55 Very frequent (99-80%)
35 abnormality of the upper limb 55 Very frequent (99-80%)
36 synophrys 31 HP:0000664
37 partial albinism 31 HP:0007443
38 carpal synostosis 31 HP:0009702

Drugs & Therapeutics for Waardenburg Syndrome, Type 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathway Study WS3 - Home Based Metacognitive Therapy for Cardiac Rehabilitation Patients Recruiting NCT03129282

Search NIH Clinical Center for Waardenburg Syndrome, Type 3

Genetic Tests for Waardenburg Syndrome, Type 3

Anatomical Context for Waardenburg Syndrome, Type 3

MalaCards organs/tissues related to Waardenburg Syndrome, Type 3:

38
Skin, Eye, Bone

Publications for Waardenburg Syndrome, Type 3

Articles related to Waardenburg Syndrome, Type 3:

# Title Authors Year
1
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? ( 11683776 )
2001
2
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. ( 9482647 )
1998
3
Mutations in the paired domain of the human PAX3 gene cause Klein- Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). ( 8447316 )
1993
4
Autosomal dominant inheritance of Klein-Waardenburg syndrome. ( 1536170 )
1992
5
Upper limb involvement in the Klein-Waardenburg syndrome. ( 7091186 )
1982

Variations for Waardenburg Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 3:

71
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Asn47His VAR_003791 rs104893653
2 PAX3 p.Ser84Phe VAR_003801 rs104893651
3 PAX3 p.Arg270Cys VAR_013619
4 PAX3 p.Tyr90His VAR_017535 rs104893654

ClinVar genetic disease variations for Waardenburg Syndrome, Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh37 Chromosome 2, 223161767: 223161767
2 PAX3 NM_181457.3(PAX3): c.139A> C (p.Asn47His) single nucleotide variant Pathogenic rs104893653 GRCh37 Chromosome 2, 223161879: 223161879
3 PAX3 PAX3, 13-BP DEL, NT384 deletion Pathogenic
4 PAX3 NM_181457.3(PAX3): c.268T> C (p.Tyr90His) single nucleotide variant Pathogenic rs104893654 GRCh37 Chromosome 2, 223161750: 223161750

Expression for Waardenburg Syndrome, Type 3

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 3.

Pathways for Waardenburg Syndrome, Type 3

GO Terms for Waardenburg Syndrome, Type 3

Sources for Waardenburg Syndrome, Type 3

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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