MCID: WRD031
MIFTS: 28

Waardenburg Syndrome, Type 3 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 51 47 12
Klein-Waardenburg Syndrome 47 53 69 49
Ws3 47 53 69
Waardenburg Syndrome with Upper Limb Anomalies 47 69
Waardenburg Syndrome Type Iii 24 53
Waardenburg Syndrome Type 3 47 53
 
White Forelock Syndrome with Multiple Congenital Malformations 47
Waardenburg Syndrome with Limb Anomalies 53
White Forelock with Malformations 69
Waardenburg Syndrome 3 69
Klein's Syndrome 67

Characteristics:

Orphanet epidemiological data:

53
klein-waardenburg syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
waardenburg syndrome, type 3:
Inheritance: autosomal recessive inheritance, autosomal dominant contiguous gene syndrome
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 148820
Orphanet53 ORPHA896
ICD10 via Orphanet30 E70.3
MeSH38 D014849

Summaries for Waardenburg Syndrome, Type 3

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OMIM:51 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 microcephaly, hearing impairment and narrow nasal bridge. An important gene associated with Waardenburg Syndrome, Type 3 is PAX3 (Paired Box 3). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot:69 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 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:

 63 53 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000365
3 narrow nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000446
4 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
5 thick eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000574
6 blepharophimosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000581
7 limitation of joint mobility63 hallmark (90%) HP:0001376
8 synostosis of carpal bones63 53 hallmark (90%) Very frequent (99-80%) HP:0005048
9 finger syndactyly63 hallmark (90%) HP:0006101
10 tented upper lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0010804
11 telecanthus63 53 typical (50%) Frequent (79-30%) HP:0000506
12 hypopigmentation of hair63 typical (50%) HP:0005599
13 atelectasis63 53 typical (50%) Frequent (79-30%) HP:0100750
14 acrocyanosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001063
15 hypertonia63 occasional (7.5%) HP:0001276
16 atria septal defect63 occasional (7.5%) HP:0001631
17 tracheomalacia63 53 occasional (7.5%) Occasional (29-5%) HP:0002779
18 camptodactyly of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0100490
19 cognitive impairment63 occasional (7.5%) HP:0100543
20 mandibular prognathia63 HP:0000303
21 sensorineural hearing impairment63 HP:0000407
22 prominent nasal bridge63 HP:0000426
23 wide nasal bridge63 HP:0000431
24 blue irides63 HP:0000635
25 synophrys63 HP:0000664
26 hypopigmented skin patches63 HP:0001053
27 heterochromia iridis63 HP:0001100
28 brachydactyly syndrome63 HP:0001156
29 intellectual disability63 53 Occasional (29-5%) HP:0001249
30 spastic paraplegia63 53 Occasional (29-5%) HP:0001258
31 white forelock63 HP:0002211
32 premature graying of hair63 HP:0002216
33 aganglionic megacolon63 HP:0002251
34 scapular winging63 HP:0003691
35 partial albinism63 HP:0007443
36 carpal synostosis63 HP:0009702
37 cutaneous finger syndactyly63 53 Very frequent (99-80%) HP:0010554
38 clinodactyly63 HP:0030084
39 abnormality of the face53 Very frequent (99-80%)
40 abnormality of finger53 Very frequent (99-80%)
41 joint stiffness53 Very frequent (99-80%)
42 defect in the atrial septum53 Occasional (29-5%)
43 abnormality of the upper limb53 Very frequent (99-80%)
44 white hair53 Frequent (79-30%)

Drugs & Therapeutics for Waardenburg Syndrome, Type 3

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Interventional clinical trials:

Search ClinicalTrials, 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:

35
Skin, Bone, Eye

Animal Models for Waardenburg Syndrome, Type 3 or affiliated genes

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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:

69
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_181457.3(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, NT384deletionPathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet