MCID: WRD030
MIFTS: 50

Waardenburg Syndrome, Type 1 malady

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

Aliases & Classifications for Waardenburg Syndrome, Type 1

About this section
Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 52 12
Waardenburg Syndrome Type I 23 24 54
Waardenburg Syndrome Type 1 48 54 68
Ws1 48 54 70
 
Waardenburg Syndrome 1 70 27
Waardenburg's Syndrome Type 1 48
Waardenburg Syndrome, Type I 50

Characteristics:

Orphanet epidemiological data:

54
waardenburg syndrome type i:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
waardenburg syndrome, type 1:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
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:



External Ids:

OMIM52 193500
Orphanet54 ORPHA894
UMLS via Orphanet69 C1847800
ICD10 via Orphanet31 E70.3
MedGen37 C1847800
MeSH39 D014849

Summaries for Waardenburg Syndrome, Type 1

About this section
OMIM:52 Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary... (193500) more...

MalaCards based summary: Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type i, is related to waardenburg syndrome, type 2a and waardenburg syndrome, type 2d, and has symptoms including mandibular prognathia, hearing impairment and telecanthus. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of retinoblastoma protein. Affiliated tissues include eye, skin and testes, and related mouse phenotypes are limbs/digits/tail and embryo.

NIH Rare Diseases:48 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. Last updated: 10/20/2011

UniProtKB/Swiss-Prot:70 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.

GeneReviews for NBK1531

Related Diseases for Waardenburg Syndrome, Type 1

About this section

Diseases in the Waardenburg Syndrome, Type 4a family:

Waardenburg Syndrome, Type 2b waardenburg syndrome, type 1
Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 2a
Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d
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 all 29)
idRelated DiseaseScoreTop Affiliating Genes
1waardenburg syndrome, type 2a10.9
2waardenburg syndrome, type 2d10.9
3waardenburg syndrome, type 2e, with or without neurologic involvement10.9
4waardenburg syndrome, type 2b10.7
5waardenburg syndrome, type 310.7
6waardenburg syndrome, type 2c10.7
7waardenburg syndrome, type 4a10.7
8waardenburg syndrome, type 4b10.7
9waardenburg syndrome, type 4c10.7
10hyperaldosteronism9.9MITF, PAX3
11wolfram syndrome9.8
12cholesteatoma9.8
13neural tube defects9.8
14small patella syndrome9.8
15cleft lip9.8
16heterochromia iridis9.8
17cleft lip/palate9.8
18toxascariasis9.7PAX3, SOX10
19agammaglobulinemia 49.7PAX3, SOX10
20dentinogenesis imperfecta, shields type ii9.7MITF, PAX3
21charcot-marie-tooth neuropathy, x-linked recessive, 29.6MITF, SOX10
22pulmonary coin lesion9.6EDN3, SOX10
23pulmonary immaturity9.5MITF, SOX10
24gnathomiasis9.3EDN3, SOX10
25hirschsprung nail hypoplasia dysmorphism9.2EDN3, MITF, SOX10
26diabetes mellitus, noninsulin-dependent, 59.2EDN3, MITF, SOX10
27conjunctival cancer8.9EDN3, MITF, PAX3, SOX10
28dyschromatosis symmetrica hereditaria8.8EDN3, MITF, PAX3, SOX10
29chronic infections, due to mbl deficiency8.8EDN3, MITF, PAX3, SOX10

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

About this section

Symptoms by clinical synopsis from OMIM:

193500

Clinical features from OMIM:

193500

Human phenotypes related to Waardenburg Syndrome, Type 1:

 64 54 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
2 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
3 telecanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000506
4 lacrimation abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0000632
5 hypopigmented skin patches64 54 hallmark (90%) Very frequent (99-80%) HP:0001053
6 heterochromia iridis64 54 hallmark (90%) Very frequent (99-80%) HP:0001100
7 white forelock64 54 hallmark (90%) Very frequent (99-80%) HP:0002211
8 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
9 underdeveloped nasal alae64 54 typical (50%) Frequent (79-30%) HP:0000430
10 wide nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0000431
11 synophrys64 54 typical (50%) Frequent (79-30%) HP:0000664
12 premature graying of hair64 54 typical (50%) Frequent (79-30%) HP:0002216
13 tented upper lip vermilion64 54 typical (50%) Frequent (79-30%) HP:0010804
14 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
15 cleft upper lip64 54 occasional (7.5%) Occasional (29-5%) HP:0000204
16 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
17 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
18 sprengel anomaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000912
19 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
20 meningocele64 54 occasional (7.5%) Occasional (29-5%) HP:0002435
21 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
22 myelomeningocele64 rare (5%) HP:0002475
23 oral cleft64 HP:0000202
24 hypertelorism64 HP:0000316
25 smooth philtrum64 HP:0000319
26 thick eyebrow64 54 Very frequent (99-80%) HP:0000574
27 blepharophimosis64 HP:0000581
28 white eyebrow64 54 Very frequent (99-80%) HP:0002226
29 white eyelashes64 54 Very frequent (99-80%) HP:0002227
30 supernumerary vertebrae64 HP:0002946
31 aplasia of the vagina64 HP:0003250
32 supernumerary ribs64 HP:0005815
33 partial albinism64 HP:0007443
34 hypopigmentation of the fundus64 HP:0007894
35 hypoplastic iris stroma64 HP:0007990
36 congenital sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0008527
37 abnormality of the eye54 Very frequent (99-80%)
38 abnormality of vision54 Very frequent (99-80%)
39 abnormality of the hair54 Frequent (79-30%)
40 spina bifida54 Occasional (29-5%)
41 malformation of the heart and great vessels54 Occasional (29-5%)
42 hypopigmentation of hair54 Very frequent (99-80%)
43 white hair54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2MITF, PAX3, SOX10
2MP:00053808.8EDN3, MITF, PAX3, SOX10
3MP:00107718.8EDN3, MITF, PAX3, SOX10
4MP:00011868.1EDN3, MITF, PAX3, SOX10

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

About this section

Drugs for Waardenburg Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Warfarinapproved45481-81-26691, 54678486
Synonyms:
(-)-Warfarin
(S)-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone
(S)-Warfarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine
1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone
200 Coumarin
200 coumarin
3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin
3-(Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin
3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin
4-Hydroxy-3- (3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3- (3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-chromen-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin
4-Idrossi-3- (3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-1-fenil-butil)-cumarine
45706_FLUKA
45706_RIEDEL
4oh-coumarin deriv.
5543-56-6
5543-57-7
81-81-2
A2250_FLUKA
A2250_SIGMA
AC-15978
AC1L1N37
AC1Q6AN3
AR-1E2310
Arab Rat Death
Arab rat death
Arab rat deth
Athrombin
Athrombin-K
Athrombin-k
Athrombine-K
Athrombine-k
BRD-A24514565-001-02-2
BRD-A24514565-236-01-6
BRN 1293536
BSPBio_002026
Bio-0586
Brumolin
C01541
C19H16O4
CBDivE_002127
CBDivE_013236
CBKinase1_000192
CBKinase1_012592
CHEBI:10033
CHEMBL1464
CID6691
CO-Rax
Caswell No. 903
Choice
Choice (TN)
Co-Rax
Co-rax
Compound 42
Coumadin
Coumadin Tabs
Coumafen
Coumafene
Coumafene [French]
Coumaphen
Coumaphene
Coumarins
Coumefene
Cov-R-Tox
Cov-R-tox
D-Con
D08682
DB00682
DL-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin
Dethmor
Dethnel
Dicusat E
Dicusat e
DivK1c_000444
EINECS 201-377-6
EINECS 226-907-3
EPA Pesticide Chemical Code 086002
Eastern states duocide
Fasco fascrat powder
Frass-Ratron
Frass-ratron
HMS1921K07
HMS2092C20
HMS501G06
HSDB 1786
I14-0958
IDI1_000444
Jantoven
KBio1_000444
KBio2_000674
KBio2_003242
KBio2_005810
KBio3_001526
KBioGR_000901
KBioSS_000674
Killgerm sewarin p
Kumader
Kumadu
Kumatox
Kypfarin
LS-55083
Latka 42
Latka 42 [Czech]
Liqua-tox
MLS001304042
Maag Rattentod Cum
Maag rattentod cum
Mar-Frin
Mar-frin
Marevan
Martin'S mar-frin
Martin's mar-frin
 
Maveran
MolPort-001-787-822
Mouse pak
NCGC00094810-01
NCGC00094810-02
NCGC00159398-03
NCGC00178855-01
NINDS_000444
NSC 59813
NSC59813
PS104_SUPELCO
Panwarfin
Place-Pax
Place-pax
Prothromadin
RAX
RCR grey squirrel killer concentrate
RCRA waste no. P001
Rat & mice bait
Rat and mice bait
Rat-B-gon
Rat-Gard
Rat-Kill
Rat-Mix
Rat-O-cide #2
Rat-O-cide no. 2
Rat-Ola
Rat-Trol
Rat-a-way
Rat-alpha-way
Rat-b-gon
Rat-beta-gon
Rat-gard
Rat-kill
Rat-mix
Rat-o-cide #2
Rat-ola
Rat-trol
Ratorex
Ratox
Ratoxin
Ratron
Ratron G
Ratron g
Rats-no-more
Ratten-Koederrohr
Ratten-koederrohr
Rattenstreupulver Neu Schacht
Rattenstreupulver neu schacht
Rattenstreupulver new schacht
Rattentraenke
Rattunal
Rcra waste number P001
Ro-Deth
Ro-deth
Rodafarin
Rodafarin C
Rodafarin c
Rodex
Rodex blox
Rosex
Rough & ready mouse mix
Rough and ready mouse mix
SMP1_000316
SMR000718754
SPBio_000870
SPECTRUM1500613
STK364490
Sakarat
Sewarin
Sofarin
Solfarin
Sorexa Plus
Sorexa plus
Spectrum2_000935
Spectrum3_000583
Spectrum4_000381
Spectrum5_001751
Spectrum_000194
Spray-trol brand roden-trol
Temus W
Temus w
Tintorane
Tox-Hid
Tox-hid
Twin light rat away
UNII-5Q7ZVV76EI
Vampirinip II
Vampirinip III
Vampirinip iii
W.A.R.F. 42
WARF compound 42
WLN: T66 BOVJ DYR&1V1 EQ
Waran
Warf 10
Warf 42
Warfarat
Warfarin (INN)
Warfarin (and salts of)
Warfarin Plus
Warfarin Q
Warfarin [BSI:ISO]
Warfarin [INN:BAN]
Warfarin plus
Warfarin plus [discontinued]
Warfarin sodium
Warfarin titrated to an INR of 2.5-3.0
Warfarin(R)
Warfarina
Warfarina [INN-Spanish]
Warfarine
Warfarine [INN-French]
Warfarine [ISO-French]
Warfarinum
Warfarinum [INN-Latin]
Warficide
Warfilone
Zoocoumarin
Zoocoumarin [Netherlands and USSR]
Zoocoumarin [Russian]
delta-Con
nchembio.307-comp19
rac-Warfarin
warfarin
2
Histamine Phosphateapproved103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
3
Imipramineapproved2750-49-73696
Synonyms:
1-(3-Dimethylaminopropyl)-4,5-dihydro-2,3,6,7-dibenzazepine
10,11-Dihydro-5-(3-(dimethylamino)propyl)-5H-dibenz[b,f]azepine
10,11-Dihydro-N,N-dimethyl-5H-dibenz[b,f]azepine-5-propanamine
10,11-dihydro-N,N-Dimethyl-5H-dibenz[b,F]azepine-5-propanamine
113-52-0 (mono-hydrochloride)
2,2'-(3-Dimethylaminopropylimino)bibenzyl
2,2'-(3-Dimethylaminopropylimino)dibenzyl
3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine
3-(5,6-dihydrobenzo[b][1]benzazepin-11-yl)-N,N-dimethylpropan-1-amine
3-(5H-DIBENZO[b,F]azepin-5-yl)-N,N-dimethylpropan-1-amine
5,6-Dihydro-N-(3-(dimethylamino)propyl)-11H-dibenz(b,e)azepine
5,6-Dihydro-N-[3-(dimethylamino)propyl]-11H-dibenz[b,e]azepine
5-(3-(Dimethylamino)propyl)-10,11-dihydro-5H-dibenz(b,f)azepine
5-(3-Dimethylaminopropyl)-10,11-dihydro-5H-dibenzo(b,f)azepine
5-[3-(dimethylamino)Propyl]-10,11-dihydro-5H-dibenz[b,F]azepine
50-49-7
5H-Dibenz(b,f)azepine,5-[3-(dimethylamino)propyl]-10,11-dihydro-mixed with ethyl alcohol
5H-Dibenz(b,f)azepine-5-propanamine, 10,11-dihydro-N,N-dimethyl- (9CI)
AB00053486
AC1L1GIE
Antideprin
BIDD:GT0116
BPBio1_000313
BRD-K38436528-003-05-5
BRN 0256892
BSPBio_000283
BSPBio_002172
Berkomine
C07049
CAS-113-52-0
CCRIS 9173
CHEBI:47499
CHEMBL11
CID3696
CPD-11438
Censtim
Censtin
Chimoreptin
D08070
DB00458
DB08002
DPID
Declomipramine
Dimipressin
DivK1c_000559
Dpid
Dyna-Zina
Dyna-zina
Dynaprin
EINECS 200-042-1
Estraldine
Eupramin
Feinalmin
G-22355
HMS2089G08
HSDB 3100
IDI1_000559
IM
Imavate
Imidobenzyle
Imilanyle
Imipramin
Imipramina
Imipramina [INN-Spanish]
Imipramina [Italian]
Imipramine
Imipramine (INN)
Imipramine Hcl
Imipramine [INN:BAN]
Imipraminum
Imipraminum [INN-Latin]
Imiprin
Imizin
Imizine
Imizinum
 
Impramine
InChI=1/C19H24N2/c1-20(2)14-7-15-21-18-10-5-3-8-16(18)12-13-17-9-4-6-11-19(17)21/h3-6,8-11H,7,12-15H2,1-2H
Intalpram
Iramil
Irmin
Janimine
Janimine (hydrochloride)
KBio1_000559
KBio2_001395
KBio2_003963
KBio2_006531
KBio3_001392
KBioGR_000391
KBioSS_001395
L000739
LS-60467
Lofepramine
Lopac-I-7379
Lopac0_000702
Melipramin
Melipramine
MolPort-001-783-692
N-(.gamma.-Dimethylaminopropyl)iminodibenzyl
N-(3-Dimethylaminopropyl)-o-iminodibenzyl
N-(gamma-Dimethylaminopropyl)iminodibenzyl
N-(γ-dimethylaminopropyl)iminodibenzyl
NCGC00015563-01
NCGC00015563-02
NCGC00015563-03
NCGC00015563-09
NCGC00024253-03
NCGC00024253-04
NINDS_000559
NSC 169866
NSC169866
Nelipramin
Norchlorimipramine
Norfranil
Oprea1_200908
Pramine
Prazepine
Presamine
Prestwick0_000072
Prestwick1_000072
Prestwick2_000072
Prestwick3_000072
Promiben
Psychoforin
SK-Pramine
SPBio_001059
SPBio_002204
Sk-Pramine
Spectrum2_000990
Spectrum3_000466
Spectrum4_000016
Spectrum5_000864
Spectrum_000915
Surmontil
Surplix
Teperine
Timolet
Tipramine
Tofranil
Tofranil (TN)
Tofranil (free base)
Tofranil (hydrochloride)
Tofranil base
Tofranil, Base
Tofranil, base
Tofranil-PM (imipramine pamoate)
Tofranil-Pm
Tofraniln A
Trimipramine Maleate
UNII-OGG85SX4E4
WLN: T C676 BN&T&J B3N1&1
imipramine
nchembio747-comp8
4
Loratadineapproved9979794-75-53957
Synonyms:
1-Piperidenecarboxylic acid, 4-(8-chloro-5,6-duhydro-11H-benzo [5,6]cyclohepta[1,2-b]-pyridin-11-ylidene)-, ethyl ester
1-Piperidinecarboxylic acid, 4-(8-chloro-5,6-dihydro-11H-benzo(5,6)cyclohepta(1,2-b)pyridin-11-ylidene)-, ethyl ester
1-Piperidinecarboxylic acid, 4-(8-chloro-5,6-dihydro-11H-benzo[5,6]cyclohepta[1,2-b]pyridin-11-ylidene)-, ethyl ester
1-piperidinecarboxylic acid,4-(8-chloro-5,6-dihydro-11H-benzo(5,6)cyclohepta(1,2-b)pyridin-11-ylidene)-,ethyl ester
4-(8-Chloro-5,6-dihydro-11H-benzo(5,6)cyclohepta(1,2-b)pyridin-11-ylidene)-1-piperidinecarboxylic Acid Ethyl Ester
4-(8-Chloro-5,6-dihydro-11H-benzo[5,6]cyclohepta[1,2-b]pyridin-11-ylidene-1-piperidinecarboxylic acid ethyl ester
4-(8-chloro-5,6-dihydro-11H-benzo[5,6]cycloheptal[1,2-b]pyridin-11-ylidene-1-piperidinecarboxylic acid ethyl ester
79794-75-5
AC-2086
AC1L1H3E
Aerotina
Alarin
Alavert
Alavert, Claritin, Loratadine
Alerpriv
Allertidin
Amantadine
Anhissen
BB_SC-2109
BIDD:GT0198
BRD-K82795137-001-02-3
BRD-K82795137-001-10-6
BSPBio_002300
Bedix Loratadina
Biloina
Bonalerg
C22H23ClN2O2
CHEMBL998
CID3957
CPD000058255
Children's Claritin
Civeran
Claratyne
Claratyne Cold
Claratyne Decongestant
Clarinase
Clarinase Reperabs
Claritin
Claritin (TN)
Claritin D
Claritin Hives Relief
Claritin Hives Relief Reditab
Claritin Reditabs
Claritin reditab
Claritine
Clarityn
Clarityne
Clarityne Dy Repetabs
Clarityne-D
Clarium
Cronopen
D00364
D017336
DB00455
DivK1c_000792
EU-0100680
Ethyl 4-(8-chloro-5,6-dihydro-11H-benzo(5,6)cyclohepta(1,2-b)pyridin-11-ylidene)-1-piperidinecarboxylate
Flonidan
Fristamin
HMS2051G11
HMS2090O18
HMS2093I15
HMS502H14
HSDB 3578
Histaloran
I14-0747
IDI1_000792
KBio1_000792
KBio2_001976
KBio2_004544
KBio2_007112
KBio3_001520
KBioGR_000693
KBioSS_001976
Klaritin
L 9664
L000667
L0223
L9664_SIGMA
LS-114660
 
Lergy
Lertamine
Lesidas
Lisino
Lopac-L-9664
Lopac0_000680
Loracert
Loradex
Loradif
Loranox
Lorantis
Lorastine
Loratadina
Loratadina [Spanish]
Loratadine
Loratadine (JAN/USAN/INN)
Loratadine Redidose
Loratadine Wyeth Brand
Loratadine [USAN:BAN:INN]
Loratadinum
Loratadinum [Latin]
Loratidine
Loratyne
Loraver
Lorfast
Loritine
Lowadina
MLS000069647
MLS000758260
MLS001148466
MolPort-002-507-846
NCGC00015619-01
NCGC00015619-02
NCGC00015619-06
NCGC00015619-10
NCGC00023125-02
NCGC00023125-04
NCGC00023125-05
NCGC00023125-06
NCGC00023125-07
NCI60_041473
NINDS_000792
NSC721075
Nularef
Oprea1_027965
Optimin
Polaratyne
Pylor
Restamine
Rhinase
Rinomex
Roletra
S1358_Selleck
SAM001246987
SMR000058255
SPBio_001548
SPECTRUM1503712
STK574925
Sanelor
Sch 29851
Sch-29851
Sch29851
Sensibit
Sinhistan Dy
Sohotin
Spectrum2_001584
Spectrum3_000740
Spectrum4_000177
Spectrum5_001650
Spectrum_001496
TL8005389
Tadine
Talorat Dy
Tocris-1944
UNII-7AJO3BO7QN
Velodan
Versal
Wyeth Brand of Loratadine
ZINC00537931
Zeos
ethyl 4-(8-chloro-5,6-dihydro-11H-benzo[5,6]cyclohepta[1,2-b]pyridin-11-ylidene)piperidine-1-carboxylate
loratadine
5
Histamineapproved103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
6
Pseudoephedrineapproved60690-82-47028
Synonyms:
( )-Pseudoephedrine
(+) threo-2-(methylamino)-1-phenyl-1-propanol
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
pseudoéphédrine
trans-Ephedrine
ψ-ephedrine
7
Ephedrineapproved606299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
8Anticoagulants2516
9Platelet Aggregation Inhibitors2419
10Antidepressive Agents2666
11Anti-Allergic Agents1490
12Neurotransmitter Agents17734
13Antidepressive Agents, Tricyclic293
14Quetiapine Fumarate413111974-72-2
15Histamine H1 Antagonists, Non-Sedating354
16Dermatologic Agents5674
17Antipruritics864
18Histamine Antagonists946
19Histamine H1 Antagonists782
20Antipsychotic Agents2359

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ongoing WARfarin and Coronary STENTingUnknown statusNCT00722319
2Effectiveness of Qufeng Shengshi Fang on Treatment of Allergic Rhinitis.Not yet recruitingNCT02653339

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Genetic Tests for Waardenburg Syndrome, Type 1

About this section

Genetic tests related to Waardenburg Syndrome, Type 1:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 127
2 Waardenburg Syndrome Type I24 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

About this section

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

36
Eye, Skin, Testes, Heart

Publications for Waardenburg Syndrome, Type 1

About this section

Articles related to Waardenburg Syndrome, Type 1:

(show all 11)
idTitleAuthorsYear
1
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. (23378733)
2013
2
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. (20664692)
2010
3
Waardenburg syndrome type 1. (16638435)
2006
4
Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. (12666593)
2003
5
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. (9067759)
1997
6
Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers. (7590754)
1995
7
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. (7825605)
1995
8
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1). (7833953)
1994
9
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. (7902163)
1993
10
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. (8490648)
1993
11
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. (1303193)
1992

Variations for Waardenburg Syndrome, Type 1

About this section

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

70 (show all 21)
id Symbol AA change Variation ID SNP ID
1PAX3p.Phe45LeuVAR_003790
2PAX3p.Pro50LeuVAR_003793rs104893650
3PAX3p.Arg56LeuVAR_003794rs267606931
4PAX3p.Ile59PheVAR_003795
5PAX3p.Ile59AsnVAR_003796
6PAX3p.Val60MetVAR_003797
7PAX3p.Met62ValVAR_003798
8PAX3p.Gly81AlaVAR_003800rs587776586
9PAX3p.Lys85GluVAR_003802
10PAX3p.Gly99AspVAR_003803
11PAX3p.Phe238SerVAR_003804
12PAX3p.Val265PheVAR_003805
13PAX3p.Arg271GlyVAR_003806
14PAX3p.Arg270CysVAR_013619
15PAX3p.Ser73LeuVAR_013640
16PAX3p.Gln391HisVAR_013641
17PAX3p.Gly48ArgVAR_017533
18PAX3p.Val78MetVAR_017534
19PAX3p.Trp266CysVAR_017536
20PAX3p.Arg271CysVAR_017537
21PAX3p.Arg271HisVAR_017538rs774528745

Clinvar genetic disease variations for Waardenburg Syndrome, Type 1:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PAX3NM_181459.3(PAX3): c.415A> T (p.Lys139Ter)SNVPathogenicrs876661317GRCh38Chr 2, 222295564: 222295564
2PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)SNVPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
3PAX3PAX3, 1-BP DEL, 556CdeletionPathogenicChr na, -1: -1
4PAX3PAX3, 18-BP DEL, EX2deletionPathogenicChr na, -1: -1
5PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)SNVPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
6PAX3PAX3, 14-BP DEL, EX2deletionPathogenicChr na, -1: -1
7PAX3PAX3, 1-BP DELdeletionPathogenicChr na, -1: -1
8PAX3PAX3, 2-BP DEL, 556CAdeletionPathogenicChr na, -1: -1
9PAX3NM_181457.3(PAX3): c.242G> C (p.Gly81Ala)SNVPathogenicrs587776586GRCh37Chr 2, 223161776: 223161776
10PAX3PAX3, 5-BP DEL, EX5deletionPathogenicChr na, -1: -1
11PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)SNVPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
12PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)SNVPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851

Expression for genes affiliated with Waardenburg Syndrome, Type 1

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

Pathways for genes affiliated with Waardenburg Syndrome, Type 1

About this section

GO Terms for genes affiliated with Waardenburg Syndrome, Type 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:00017559.9EDN3, SOX10
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.3MITF, PAX3, SOX10
3melanocyte differentiationGO:00303189.3EDN3, MITF, SOX10
4positive regulation of transcription, DNA-templatedGO:00458939.2MITF, PAX3, SOX10
5transcription from RNA polymerase II promoterGO:00063668.6MITF, PAX3, SOX10

Sources for Waardenburg Syndrome, Type 1

About this section
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