WS3
MCID: WRD031
MIFTS: 29

Waardenburg Syndrome, Type 3 (WS3) malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 3

Aliases & Descriptions for Waardenburg Syndrome, Type 3:

Name: Waardenburg Syndrome, Type 3 54 50 13
Klein-Waardenburg Syndrome 12 50 56 66 52
Ws3 12 50 56 66
Waardenburg Syndrome with Upper Limb Anomalies 12 50 66
Waardenburg Syndrome Type Iii 12 24 56
Waardenburg Syndrome Type 3 12 50 56
White Forelock Syndrome with Multiple Congenital Malformations 50
Waardenburg Syndrome with Limb Anomalies 56
White Forelock with Malformations 66
Waardenburg Syndrome 3 66
Klein's Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
waardenburg syndrome type 3
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
waardenburg syndrome, type 3:
Inheritance autosomal recessive inheritance autosomal dominant contiguous gene syndrome
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 148820
Disease Ontology 12 DOID:0110949
ICD10 33 E70.3
Orphanet 56 ORPHA896
ICD10 via Orphanet 34 E70.3
MeSH 42 D014849

Summaries for Waardenburg Syndrome, Type 3

OMIM : 54 Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (148820) more...

MalaCards based summary : Waardenburg Syndrome, Type 3, also known as klein-waardenburg syndrome, is related to white forelock with malformations and waardenburg syndrome, type 1, 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.

UniProtKB/Swiss-Prot : 66 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.

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 by clinical synopsis from OMIM:

148820

Clinical features from OMIM:

148820

Human phenotypes related to Waardenburg Syndrome, Type 3:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
4 microcephaly 56 32 Very frequent (99-80%) HP:0000252
5 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
6 acrocyanosis 56 32 Occasional (29-5%) HP:0001063
7 telecanthus 56 32 Frequent (79-30%) HP:0000506
8 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
9 atelectasis 56 32 Frequent (79-30%) HP:0100750
10 blepharophimosis 56 32 Very frequent (99-80%) HP:0000581
11 narrow nasal bridge 56 32 Very frequent (99-80%) HP:0000446
12 spastic paraplegia 56 32 Occasional (29-5%) HP:0001258
13 tracheomalacia 56 32 Occasional (29-5%) HP:0002779
14 synostosis of carpal bones 56 32 Very frequent (99-80%) HP:0005048
15 cutaneous finger syndactyly 56 32 Very frequent (99-80%) HP:0010554
16 tented upper lip vermilion 56 32 Very frequent (99-80%) HP:0010804
17 white hair 56 32 Frequent (79-30%) HP:0011364
18 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
19 clinodactyly 32 HP:0030084
20 mandibular prognathia 32 HP:0000303
21 wide nasal bridge 32 HP:0000431
22 sensorineural hearing impairment 32 HP:0000407
23 atria septal defect 56 Occasional (29-5%)
24 scapular winging 32 HP:0003691
25 hypopigmented skin patches 32 HP:0001053
26 prominent nasal bridge 32 HP:0000426
27 heterochromia iridis 32 HP:0001100
28 premature graying of hair 32 HP:0002216
29 aganglionic megacolon 32 HP:0002251
30 abnormality of the face 56 Very frequent (99-80%)
31 blue irides 32 HP:0000635
32 brachydactyly syndrome 32 HP:0001156
33 white forelock 32 HP:0002211
34 abnormality of finger 56 Very frequent (99-80%)
35 abnormality of the upper limb 56 Very frequent (99-80%)
36 synophrys 32 HP:0000664
37 partial albinism 32 HP:0007443
38 carpal synostosis 32 HP:0009702
39 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for Waardenburg Syndrome, Type 3

Interventional clinical trials:


id Name Status NCT ID Phase
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

Genetic tests related to Waardenburg Syndrome, Type 3:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Iii 24 PAX3

Anatomical Context for Waardenburg Syndrome, Type 3

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

39
Skin, Eye, Bone

Publications for Waardenburg Syndrome, Type 3

Articles related to Waardenburg Syndrome, Type 3:

id 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

Variations for Waardenburg Syndrome, Type 3

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

66
id 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 rs28939096

ClinVar genetic disease variations for Waardenburg Syndrome, Type 3:

6
id 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....