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

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Aliases & Descriptions for Waardenburg Syndrome, Type 3:

Name: Waardenburg Syndrome, Type 3 52 48 12
Klein-Waardenburg Syndrome 11 48 54 70 50
Ws3 11 48 54 70
Waardenburg Syndrome with Upper Limb Anomalies 11 48 70
Waardenburg Syndrome Type Iii 11 24 54
Waardenburg Syndrome Type 3 11 48 54
 
White Forelock Syndrome with Multiple Congenital Malformations 48
Waardenburg Syndrome with Limb Anomalies 54
White Forelock with Malformations 70
Waardenburg Syndrome 3 70
Klein's Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
klein-waardenburg syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
waardenburg syndrome, type 3:
Inheritance: autosomal recessive inheritance, autosomal dominant contiguous gene syndrome
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 148820
Disease Ontology11 DOID:0110949
ICD1030 E70.3
Orphanet54 ORPHA896
ICD10 via Orphanet31 E70.3
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 3

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OMIM:52 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 Array, Array and Array. An important gene associated with Waardenburg Syndrome, Type 3 is PAX3 (Paired Box 3). Affiliated tissues include skin, eye and bone.

Disease Ontology:11 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:70 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

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



Diseases related to waardenburg syndrome, type 3

Symptoms & Phenotypes for Waardenburg Syndrome, Type 3

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Symptoms by clinical synopsis from OMIM:

148820

Clinical features from OMIM:

148820

Human phenotypes related to Waardenburg Syndrome, Type 3:

 54 64 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Very frequent (99-80%) HP:0000252
2 abnormality of the face54 Very frequent (99-80%)
3 hearing impairment64 54 Very frequent (99-80%) HP:0000365
4 narrow nasal bridge64 54 Very frequent (99-80%) HP:0000446
5 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
6 telecanthus64 54 Frequent (79-30%) HP:0000506
7 thick eyebrow64 54 Very frequent (99-80%) HP:0000574
8 blepharophimosis64 54 Very frequent (99-80%) HP:0000581
9 acrocyanosis64 54 Occasional (29-5%) HP:0001063
10 abnormality of finger54 Very frequent (99-80%)
11 intellectual disability64 54 Occasional (29-5%) HP:0001249
12 spastic paraplegia64 54 Occasional (29-5%) HP:0001258
13 joint stiffness64 54 Very frequent (99-80%) HP:0001387
14 atria septal defect54 Occasional (29-5%)
15 tracheomalacia64 54 Occasional (29-5%) HP:0002779
16 abnormality of the upper limb54 Very frequent (99-80%)
17 synostosis of carpal bones64 54 Very frequent (99-80%) HP:0005048
18 cutaneous finger syndactyly64 54 Very frequent (99-80%) HP:0010554
19 tented upper lip vermilion64 54 Very frequent (99-80%) HP:0010804
20 white hair64 54 Frequent (79-30%) HP:0011364
21 camptodactyly of finger64 54 Occasional (29-5%) HP:0100490
22 atelectasis64 54 Frequent (79-30%) HP:0100750
23 mandibular prognathia64 HP:0000303
24 sensorineural hearing impairment64 HP:0000407
25 prominent nasal bridge64 HP:0000426
26 wide nasal bridge64 HP:0000431
27 blue irides64 HP:0000635
28 synophrys64 HP:0000664
29 hypopigmented skin patches64 HP:0001053
30 heterochromia iridis64 HP:0001100
31 brachydactyly syndrome64 HP:0001156
32 white forelock64 HP:0002211
33 premature graying of hair64 HP:0002216
34 aganglionic megacolon64 HP:0002251
35 scapular winging64 HP:0003691
36 partial albinism64 HP:0007443
37 carpal synostosis64 HP:0009702
38 clinodactyly64 HP:0030084
39 atrial septal defect64 HP:0001631

Drugs & Therapeutics for Waardenburg Syndrome, Type 3

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Pathway Study WS3 - Home Based Metacognitive Therapy for Cardiac Rehabilitation PatientsRecruitingNCT03129282

Search NIH Clinical Center for Waardenburg Syndrome, Type 3

Genetic Tests for Waardenburg Syndrome, Type 3

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Genetic tests related to Waardenburg Syndrome, Type 3:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Iii24 PAX3

Anatomical Context for Waardenburg Syndrome, Type 3

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

36
Skin, Eye, Bone

Publications for Waardenburg Syndrome, Type 3

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Articles related to Waardenburg Syndrome, Type 3:

idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1PAX3p.Asn47HisVAR_003791rs104893653
2PAX3p.Ser84PheVAR_003801rs104893651
3PAX3p.Arg270CysVAR_013619
4PAX3p.Tyr90HisVAR_017535rs28939096

Clinvar genetic disease variations for Waardenburg Syndrome, Type 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PAX3NM_ 001127366.2(PAX3): c.251C> T (p.Ser84Phe)SNVPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
2PAX3NM_ 181457.3(PAX3): c.139A> C (p.Asn47His)SNVPathogenicrs104893653GRCh37Chr 2, 223161879: 223161879
3PAX3PAX3, 13-BP DEL, NT384deletionPathogenic
4PAX3NM_ 181457.3(PAX3): c.268T> C (p.Tyr90His)SNVPathogenicrs104893654GRCh37Chr 2, 223161750: 223161750

Expression for genes affiliated with Waardenburg Syndrome, Type 3

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 3

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GO Terms for genes affiliated with Waardenburg Syndrome, Type 3

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Sources for Waardenburg Syndrome, Type 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet