WS1
MCID: WRD030
MIFTS: 56

Waardenburg Syndrome, Type 1 (WS1)

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

Aliases & Classifications for Waardenburg Syndrome, Type 1

MalaCards integrated aliases for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 56 13 39
Waardenburg Syndrome Type 1 12 74 52 58 29 6 15 71
Ws1 56 12 52 58 73
Waardenburg Syndrome Type I 12 24 58
Waardenburg Syndrome 43 39
Waardenburg Syndrome with Dystopia Canthorum 56
Waardenburg's Syndrome Type 1 52
Waardenburg Syndrome, Type I 54
Waardenburg Syndrome 1 73

Characteristics:

Orphanet epidemiological data:

58
waardenburg syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability seen in waardenburg syndrome type 1
other variants of waardenburg syndrome include waardenburg syndrome type 2 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

31
waardenburg syndrome, type 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Ws1 showed penetrance of at least 85% [preus et al 1983] before the advent of molecular testing. careful examination of individuals identified on the basis of pedigree analysis as having a pax3 pathogenic variant usually reveals subtle findings (minor criteria). hence, those individuals with an affected first-degree relative should be examined closely as the penetrance is likely almost complete.

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot : 73 Waardenburg syndrome 1: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

MalaCards based summary : Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome, type 4a and waardenburg syndrome type 4. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye, skin and heart, and related phenotypes are mandibular prognathia and short nose

Disease Ontology : 12 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has material basis in heterozygous mutation in the PAX3 gene on chromosome 2q36.

NIH Rare Diseases : 52 Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss , and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.

OMIM : 56 Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). (193500)

Wikipedia : 74 Waardenburg syndrome is a rare genetic condition characterised by at least some degree of congenital... more...

GeneReviews: NBK1531

Related Diseases for Waardenburg Syndrome, Type 1

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 34.2 SOX10 PAX3 MITF EDNRB EDN3
2 waardenburg syndrome type 4 34.2 SOX10 MITF EDNRB EDN3
3 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 34.1 SOX10 PAX3 MITF EDNRB EDN3
4 albinism, ocular, with late-onset sensorineural deafness 33.6 SOX10 PAX3 MITF
5 ocular albinism with congenital sensorineural deafness 32.4 PAX3 MITF
6 waardenburg syndrome, type 2b 32.2 SOX10 MITF EDN3
7 waardenburg syndrome, type 4c 31.8 SOX10 PAX3 MITF EDNRB EDN3
8 waardenburg syndrome, type 2d 31.8 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
9 waardenburg syndrome, type 4b 31.5 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
10 waardenburg syndrome, type 2e 31.5 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
11 waardenburg syndrome, type 2c 31.1 SOX10 SNAI2 PAX3 MITF GJB2 EDNRB
12 megacolon 30.8 SOX10 PAX3 EDNRB EDN3
13 waardenburg syndrome, type 3 30.3 SOX10 SNAI2 PAX3 MITF MED20 EDNRB
14 intestinal pseudo-obstruction 30.2 SOX10 EDNRB EDN3
15 waardenburg's syndrome 30.1 SOX10 SNAI2 PAX3 MITF GJB2 EDNRB
16 waardenburg syndrome, type 2a 30.0 SOX10 PAX3 MITF EDNRB EDN3
17 tietz albinism-deafness syndrome 30.0 SOX10 PAX3 MITF EDNRB EDN3
18 hirschsprung disease 1 29.9 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
19 autosomal dominant non-syndromic sensorineural deafness type dfna 29.8 WFS1 GSDME GJB2
20 piebald trait 29.7 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
21 sensorineural hearing loss 29.7 WFS1 SOX10 PAX3 MITF GSDME GJB2
22 mutism 29.6 MITF GJB2
23 nonsyndromic deafness 29.4 WFS1 PAX3 MITF GSDME GJB2
24 ocular albinism 11.5
25 microphthalmia with limb anomalies 11.5
26 albinism, oculocutaneous, type ib 11.5
27 anophthalmos with limb anomalies 11.1
28 branchiootic syndrome 1 10.5
29 malignant choroid melanoma 10.4 SOX10 MITF
30 gallbladder melanoma 10.4 SOX10 MITF
31 malignant spindle cell melanoma 10.4 SOX10 MITF
32 cochlear disease 10.3 SOX10 EDNRB EDN3
33 deafness, autosomal dominant 54 10.3 WFS1 GJB2
34 septooptic dysplasia 10.3
35 fryns microphthalmia syndrome 10.3
36 helix syndrome 10.3
37 myelomeningocele 10.3
38 demyelinating polyneuropathy 10.3
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
40 neural tube defects 10.3
41 deafness, autosomal dominant 44 10.3 WFS1 GSDME
42 ptosis 10.2
43 leukodystrophy 10.2
44 neuropathy 10.2
45 central hypoventilation syndrome, congenital 10.2 SOX10 EDNRB EDN3
46 catatrichy 10.2
47 pendred syndrome 10.2 PAX3 MITF GJB2
48 intestinal obstruction 10.2
49 deafness, autosomal dominant 1 10.2 WFS1 GJB2
50 deafness, autosomal dominant 2b 10.2 GSDME GJB2

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 1:



Diseases related to Waardenburg Syndrome, Type 1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 1

Human phenotypes related to Waardenburg Syndrome, Type 1:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
6 telecanthus 58 31 frequent (33%) Very frequent (99-80%) HP:0000506
7 heterochromia iridis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001100
8 premature graying of hair 58 31 hallmark (90%) Frequent (79-30%) HP:0002216
9 synophrys 58 31 hallmark (90%) Frequent (79-30%) HP:0000664
10 lacrimation abnormality 58 31 frequent (33%) Very frequent (99-80%) HP:0000632
11 white forelock 58 31 frequent (33%) Very frequent (99-80%) HP:0002211
12 white hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011364
13 white eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002226
14 white eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0002227
15 congenital sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008527
16 abnormal facial shape 31 hallmark (90%) HP:0001999
17 prominent nasal bridge 31 hallmark (90%) HP:0000426
18 conductive hearing impairment 31 hallmark (90%) HP:0000405
19 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
20 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
21 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
22 abnormal lip morphology 31 frequent (33%) HP:0000159
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
25 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
28 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
29 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
30 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
31 intestinal obstruction 31 occasional (7.5%) HP:0005214
32 abnormality of the uterus 31 occasional (7.5%) HP:0000130
33 oral cleft 31 occasional (7.5%) HP:0000202
34 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
35 myelomeningocele 31 occasional (7.5%) HP:0002475
36 aplasia/hypoplasia of the colon 31 occasional (7.5%) HP:0100811
37 abnormal vagina morphology 31 occasional (7.5%) HP:0000142
38 spina bifida 58 31 Occasional (29-5%) HP:0002414
39 hypertelorism 31 HP:0000316
40 hearing impairment 58 Very frequent (99-80%)
41 smooth philtrum 31 HP:0000319
42 abnormality of the eye 58 Very frequent (99-80%)
43 malformation of the heart and great vessels 58 Occasional (29-5%)
44 hypopigmentation of hair 58 Very frequent (99-80%)
45 supernumerary ribs 31 HP:0005815
46 blue irides 31 HP:0000635
47 blepharophimosis 31 HP:0000581
48 hypopigmentation of the fundus 31 HP:0007894
49 abnormality of the hair 58 Frequent (79-30%)
50 partial albinism 31 HP:0007443

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
synophrys
blepharophimosis
laterally displaced inner canthi (dystopia canthorum) (95 to 99%)
increased intercanthal distance
more
Head And Neck Face:
smooth philtrum
decreased philtrum length

Skin Nails Hair Hair:
premature graying of hair
white forelock
bushy eyebrows
white eyelashes and eyebrows

Head And Neck Mouth:
cleft lip/palate
mandibular prognathism

Head And Neck Ears:
congenital sensorineural deafness

Genitourinary Internal Genitalia Female:
absent uterine adnexa (rare)

Neurologic Central Nervous System:
spina bifida (less common)
myelomeningocele (less common)

Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi
broad, high nasal root
decreased nasal bone length

Skeletal Spine:
sprengel anomaly
supernumerary vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
supernumerary ribs

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs
hypopigmented skin lesions

Genitourinary External Genitalia Female:
absent vagina (rare)

Skeletal Skull:
aplasia of posterior semicircular canal on ct scan

Clinical features from OMIM:

193500

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.97 EDN3 EDNRB GJB2 INO80B MED20 MITF
2 digestive/alimentary MP:0005381 9.91 CISD2 EDN3 EDNRB PAX3 SNAI2 SOX10
3 integument MP:0010771 9.85 BIVM CISD2 EDN3 EDNRB GJB2 MITF
4 hearing/vestibular/ear MP:0005377 9.73 CISD2 EDNRB GJB2 GSDME MITF PAX3
5 limbs/digits/tail MP:0005371 9.43 CMBL EDNRB GJB2 MITF PAX3 SOX10
6 pigmentation MP:0001186 9.17 CISD2 EDN3 EDNRB MITF PAX3 SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development and Clinical Application of Two New Genetic Deafness Gene Unknown status NCT02418936
2 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg Syndrome, Type 1

Genetic tests related to Waardenburg Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 1 29 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

MalaCards organs/tissues related to Waardenburg Syndrome, Type 1:

40
Eye, Skin, Heart, Bone, Kidney, Colon, Uterus

Publications for Waardenburg Syndrome, Type 1

Articles related to Waardenburg Syndrome, Type 1:

(show top 50) (show all 141)
# Title Authors PMID Year
1
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). 24 56 6
8447316 1993
2
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. 24 56 6
1347148 1992
3
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 24 56 6
1347149 1992
4
Waardenburg syndrome and myelomeningocele in a family. 61 56 6
8423616 1993
5
Homozygosity for Waardenburg syndrome. 56 6
7726174 1995
6
Waardenburg syndrome associated with meningomyelocele. 56 6
1308353 1992
7
Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. 56 6
1887852 1991
8
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 24 6
21965087 2012
9
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 24 6
20478267 2010
10
Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. 24 56
18241065 2008
11
Waardenburg syndrome: clinical differentiation between types I and II. 24 56
12599185 2003
12
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. 24 56
10942418 2000
13
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 24 56
9654197 1998
14
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 24 56
1349198 1992
15
Germ-line mosaicism in Waardenburg syndrome. 24 56
2036740 1991
16
Waardenburg syndrome--penetrance of major signs. 24 56
6881207 1983
17
Older paternal age and fresh gene mutation: data on additional disorders. 24 56
1110452 1975
18
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. 24 56
14902764 1951
19
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). 61 56
9192262 1997
20
Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome. 61 56
8571965 1996
21
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 54 56
8533800 1995
22
Analysis of variability of clinical manifestations in Waardenburg syndrome. 61 6
7573125 1995
23
Molecular basis of splotch and Waardenburg Pax-3 mutations. 61 56
7909605 1994
24
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. 61 6
8490648 1993
25
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. 61 6
1303193 1992
26
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q. 54 56
1670751 1991
27
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. 54 56
2339698 1990
28
Hearing loss in Waardenburg syndrome: a systematic review. 56
26100139 2016
29
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
30
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. 61 24
20664692 2010
31
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. 61 24
14603070 2003
32
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 54 24
12949970 2003
33
Waardenburg Syndrome Type I 6
20301703 2001
34
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 56
9500554 1998
35
Waardenburg syndrome. 56
9279758 1997
36
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 61 24
8664898 1996
37
Possible homozygous Waardenburg syndrome in a fetus with exencephaly. 56
8588597 1995
38
The mutational spectrum in Waardenburg syndrome. 6
8589691 1995
39
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. 6
7897628 1995
40
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. 56
7981674 1994
41
Craniofacial anthropometric studies in Waardenburg syndrome type I. 56
8403450 1993
42
Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3. 56
8322830 1993
43
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. 56
1442895 1992
44
Waardenburg syndrome type I in a child with deletion (2) (q35q36.2) 56
1481835 1992
45
Traces of her workings. 56
1303249 1992
46
Phenotypic discriminants in the Waardenburg syndrome. 56
1576755 1992
47
Mouse and hamster mutants as models for Waardenburg syndromes in humans. 56
2246770 1990
48
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). 56
2596512 1989
49
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). 6
2785681 1989
50
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. 56
2609099 1989

Variations for Waardenburg Syndrome, Type 1

ClinVar genetic disease variations for Waardenburg Syndrome, Type 1:

6 (show top 50) (show all 268) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX3 NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547deldeletion Pathogenic 228386 2:223158339-223163411 2:222293620-222298692
2 PAX3 NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)SNV Pathogenic 228387 rs876657717 2:223096921-223096921 2:222232202-222232202
3 PAX3 NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del)deletion Pathogenic 4205 rs1559320436 2:223161816-223161833 2:222297097-222297114
4 PAX3 NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)SNV Pathogenic 4206 rs104893650 2:223161869-223161869 2:222297150-222297150
5 PAX3 NM_181458.4(PAX3):c.268_281del (p.Tyr90fs)deletion Pathogenic 4207 rs1559320252 2:223161737-223161750 2:222297018-222297031
6 PAX3 PAX3, 1-BP DELdeletion Pathogenic 4208
7 PAX3 NM_181458.4(PAX3):c.556_557CA[1] (p.His186fs)short repeat Pathogenic 4209 rs1559316535 2:223158913-223158914 2:222294194-222294195
8 PAX3 NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)SNV Pathogenic 4210 rs587776586 2:223161776-223161776 2:222297057-222297057
9 PAX3 NM_181458.4(PAX3):c.365_369del (p.Lys122fs)deletion Pathogenic 4211 rs1559318562 2:223160329-223160333 2:222295610-222295614
10 PAX3 NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)SNV Pathogenic 4212 rs104893651 2:223161767-223161767 2:222297048-222297048
11 PAX3 NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)SNV Pathogenic 4217 rs267606931 2:223161851-223161851 2:222297132-222297132
12 MITF NM_000248.3(MITF):c.643AGA[2]short repeat Pathogenic 14272 rs1553704814 3:70005612-70005614 3:69956461-69956463
13 PAX3 NM_181458.4(PAX3):c.238C>G (p.His80Asp)SNV Pathogenic 30595 rs387906947 2:223161780-223161780 2:222297061-222297061
14 PAX3 NM_181458.4(PAX3):c.556del (p.His186fs)deletion Pathogenic 30596 rs1559316542 2:223158916-223158916 2:222294197-222294197
15 PAX3 NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)SNV Pathogenic 235094 rs876661317 2:223160283-223160283 2:222295564-222295564
16 PAX3 NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)SNV Pathogenic 280007 rs886041319 2:223096805-223096805 2:222232086-222232086
17 PAX3 NM_181458.4(PAX3):c.812G>A (p.Arg271His)SNV Pathogenic 279964 rs774528745 2:223086087-223086087 2:222221368-222221368
18 PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs)duplication Pathogenic 505425 rs1553572967 2:223086019-223086020 2:222221300-222221301
19 PAX3 NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)SNV Pathogenic 545017 rs147111779 2:223066853-223066853 2:222202134-222202134
20 PAX3 NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)SNV Pathogenic 547748 rs1380858784 2:223086088-223086088 2:222221369-222221369
21 PAX3 NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)SNV Pathogenic 547747 rs1228590199 2:223086091-223086091 2:222221372-222221372
22 PAX3 NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)SNV Pathogenic 547733 rs1553593928 2:223161800-223161800 2:222297081-222297081
23 PAX3 NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)deletion Pathogenic 800731 2:223084955-223084956 2:222220236-222220237
24 MITF NM_000248.3(MITF):c.710+1G>ASNV Pathogenic/Likely pathogenic 545015 rs1559749017 3:70005682-70005682 3:69956531-69956531
25 PAX3 NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)SNV Pathogenic/Likely pathogenic 488038 rs1419548558 2:223161876-223161876 2:222297157-222297157
26 PAX3 NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)SNV Likely pathogenic 488034 rs773327091 2:223161894-223161894 2:222297175-222297175
27 MITF NM_000248.3(MITF):c.473A>G (p.Tyr158Cys)SNV Likely pathogenic 373914 rs1057518765 3:69998233-69998233 3:69949082-69949082
28 PAX3 NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)SNV Likely pathogenic 547746 rs1553575157 2:223096798-223096798 2:222232079-222232079
29 PAX3 NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)SNV Likely pathogenic 545018 rs1559320299 2:223161762-223161762 2:222297043-222297043
30 PAX3 NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)duplication Likely pathogenic 547753 rs1553568831 2:223066707-223066708 2:222201988-222201989
31 PAX3 NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)SNV Likely pathogenic 547752 rs369886550 2:223066806-223066806 2:222202087-222202087
32 PAX3 NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)SNV Likely pathogenic 547751 rs1553572740 2:223085011-223085011 2:222220292-222220292
33 PAX3 NM_181458.4(PAX3):c.921del (p.Ser308fs)deletion Likely pathogenic 547750 rs1553572946 2:223085978-223085978 2:222221259-222221259
34 PAX3 NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)SNV Likely pathogenic 488036 rs1553575159 2:223096799-223096799 2:222232080-222232080
35 PAX3 NM_181458.4(PAX3):c.727_739del (p.Tyr243fs)deletion Likely pathogenic 488033 rs1553575179 2:223096850-223096862 2:222232131-222232143
36 PAX3 NM_181458.4(PAX3):c.464del (p.Ser155fs)deletion Likely pathogenic 488037 rs1553592766 2:223159008-223159008 2:222294289-222294289
37 PAX3 NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del)deletion Likely pathogenic 488035 rs1553593965 2:223161858-223161869 2:222297139-222297150
38 PAX3 NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)SNV Likely pathogenic 488032 rs1419548558 2:223161876-223161876 2:222297157-222297157
39 PAX3 NM_181458.4(PAX3):c.239A>G (p.His80Arg)SNV Likely pathogenic 801902 2:223161779-223161779 2:222297060-222297060
40 PAX3 NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)SNV Likely pathogenic 547732 rs1356246522 2:223161808-223161808 2:222297089-222297089
41 PAX3 NM_181458.4(PAX3):c.136dup (p.Ile46fs)duplication Likely pathogenic 547731 rs1553594009 2:223161881-223161882 2:222297162-222297163
42 PAX3 NM_181458.4(PAX3):c.86-2A>GSNV Likely pathogenic 547730 rs1553594069 2:223161934-223161934 2:222297215-222297215
43 PAX3 NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)SNV Likely pathogenic 547744 rs1553575191 2:223096897-223096897 2:222232178-222232178
44 PAX3 NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)insertion Likely pathogenic 547743 rs1553592703 2:223158941-223158942 2:222294222-222294223
45 PAX3 NM_181458.4(PAX3):c.524dup (p.Glu176fs)duplication Likely pathogenic 547742 rs1553592713 2:223158947-223158948 2:222294228-222294229
46 PAX3 NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)indel Likely pathogenic 547741 rs1553592757 2:223158988-223158990 2:222294269-222294271
47 PAX3 NM_181458.4(PAX3):c.452-9C>ASNV Likely pathogenic 547740 rs1379006499 2:223159029-223159029 2:222294310-222294310
48 PAX3 NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)SNV Likely pathogenic 547738 rs1553593874 2:223161749-223161749 2:222297030-222297030
49 PAX3 NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)SNV Likely pathogenic 547737 rs777297575 2:223161772-223161772 2:222297053-222297053
50 PAX3 NM_181458.4(PAX3):c.232G>T (p.Val78Leu)SNV Likely pathogenic 547735 rs1553593917 2:223161786-223161786 2:222297067-222297067

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 1:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Phe45Leu VAR_003790
2 PAX3 p.Pro50Leu VAR_003793 rs104893650
3 PAX3 p.Arg56Leu VAR_003794 rs267606931
4 PAX3 p.Ile59Phe VAR_003795
5 PAX3 p.Ile59Asn VAR_003796
6 PAX3 p.Val60Met VAR_003797
7 PAX3 p.Met62Val VAR_003798
8 PAX3 p.Gly81Ala VAR_003800 rs587776586
9 PAX3 p.Lys85Glu VAR_003802
10 PAX3 p.Gly99Asp VAR_003803 rs118946342
11 PAX3 p.Phe238Ser VAR_003804
12 PAX3 p.Val265Phe VAR_003805
13 PAX3 p.Arg271Gly VAR_003806
14 PAX3 p.Arg270Cys VAR_013619 rs122859019
15 PAX3 p.Ser73Leu VAR_013640 rs155359392
16 PAX3 p.Gln391His VAR_013641
17 PAX3 p.Gly48Arg VAR_017533 rs141954855
18 PAX3 p.Val78Met VAR_017534
19 PAX3 p.Trp266Cys VAR_017536
20 PAX3 p.Arg271Cys VAR_017537 rs138085878
21 PAX3 p.Arg271His VAR_017538 rs774528745
22 PAX3 p.His80Asp VAR_079619 rs387906947
23 PAX3 p.Leu234Pro VAR_079621

Expression for Waardenburg Syndrome, Type 1

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 1.

Pathways for Waardenburg Syndrome, Type 1

Pathways related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 SOX10 SNAI2 PAX3 MITF
2 10.74 SOX10 PAX3 MITF

GO Terms for Waardenburg Syndrome, Type 1

Biological processes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neural crest cell migration GO:0001755 9.5 SOX10 EDNRB EDN3
2 vasoconstriction GO:0042310 9.4 EDNRB EDN3
3 enteric nervous system development GO:0048484 9.37 SOX10 EDNRB
4 sensory perception of sound GO:0007605 9.35 WFS1 SNAI2 PAX3 GSDME GJB2
5 pigmentation GO:0043473 9.33 SNAI2 MITF EDNRB
6 vein smooth muscle contraction GO:0014826 9.26 EDNRB EDN3
7 melanocyte differentiation GO:0030318 8.92 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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