MCID: WRD031
MIFTS: 29

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 50 46 12
Klein-Waardenburg Syndrome 46 52 68 48
Ws3 46 52 68
Waardenburg Syndrome with Upper Limb Anomalies 46 68
Waardenburg Syndrome Type 3 46 52
White Forelock Syndrome with Multiple Congenital Malformations 46
 
Waardenburg Syndrome with Limb Anomalies 52
White Forelock with Malformations 68
Waardenburg Syndrome Type Iii 23
Waardenburg Syndrome 3 68
Klein's Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
klein-waardenburg syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
waardenburg syndrome, type 3:
Inheritance: autosomal recessive inheritance, autosomal dominant contiguous gene syndrome
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 148820
Orphanet52 ORPHA896
ICD10 via Orphanet29 E70.3
MeSH37 D014849

Summaries for Waardenburg Syndrome, Type 3

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OMIM:50 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:68 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

Symptoms:

 52 (show all 22)
  • microcephaly
  • abnormality of the face
  • hearing impairment
  • narrow nasal bridge
  • downslanted palpebral fissures
  • telecanthus
  • thick eyebrow
  • blepharophimosis
  • acrocyanosis
  • abnormality of finger
  • intellectual disability
  • spastic paraplegia
  • joint stiffness
  • defect in the atrial septum
  • tracheomalacia
  • abnormality of the upper limb
  • synostosis of carpal bones
  • cutaneous finger syndactyly
  • tented upper lip vermilion
  • white hair
  • camptodactyly of finger
  • atelectasis

HPO human phenotypes related to Waardenburg Syndrome, Type 3:

(show all 42)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 hearing impairment hallmark (90%) HP:0000365
3 narrow nasal bridge hallmark (90%) HP:0000446
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 thick eyebrow hallmark (90%) HP:0000574
6 blepharophimosis hallmark (90%) HP:0000581
7 limitation of joint mobility hallmark (90%) HP:0001376
8 synostosis of carpal bones hallmark (90%) HP:0005048
9 finger syndactyly hallmark (90%) HP:0006101
10 tented upper lip vermilion hallmark (90%) HP:0010804
11 telecanthus typical (50%) HP:0000506
12 hypopigmentation of hair typical (50%) HP:0005599
13 atelectasis typical (50%) HP:0100750
14 acrocyanosis occasional (7.5%) HP:0001063
15 hypertonia occasional (7.5%) HP:0001276
16 atria septal defect occasional (7.5%) HP:0001631
17 tracheomalacia occasional (7.5%) HP:0002779
18 camptodactyly of finger occasional (7.5%) HP:0100490
19 cognitive impairment occasional (7.5%) HP:0100543
20 microcephaly HP:0000252
21 mandibular prognathia HP:0000303
22 sensorineural hearing impairment HP:0000407
23 prominent nasal bridge HP:0000426
24 wide nasal bridge HP:0000431
25 telecanthus HP:0000506
26 blepharophimosis HP:0000581
27 blue irides HP:0000635
28 synophrys HP:0000664
29 hypopigmented skin patches HP:0001053
30 heterochromia iridis HP:0001100
31 brachydactyly syndrome HP:0001156
32 intellectual disability HP:0001249
33 spastic paraplegia HP:0001258
34 white forelock HP:0002211
35 premature graying of hair HP:0002216
36 aganglionic megacolon HP:0002251
37 scapular winging HP:0003691
38 partial albinism HP:0007443
39 carpal synostosis HP:0009702
40 cutaneous finger syndactyly HP:0010554
41 clinodactyly HP:0030084
42 camptodactyly of finger HP:0100490

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 Iii23 PAX3

Anatomical Context for Waardenburg Syndrome, Type 3

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

34
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:

68
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)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
2PAX3NM_181457.3(PAX3): c.139A> C (p.Asn47His)single nucleotide variantPathogenicrs104893653GRCh37Chr 2, 223161879: 223161879
3PAX3PAX3, 13-BP DEL, NT384deletionPathogenic
4PAX3NM_181457.3(PAX3): c.268T> C (p.Tyr90His)single nucleotide variantPathogenicrs104893654GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet