Transtorno caracterizado por vários graus de surdez e pequenos defeitos nas estruturas decorrentes da crista neural, incluindo anomalias de pigmentação dos olhos, cabelos e pele. A WS é classificada em quatro fenótipos clínicos e genéticos.
Introdução
O que você precisa saber de cara
Transtorno caracterizado por vários graus de surdez e pequenos defeitos nas estruturas decorrentes da crista neural, incluindo anomalias de pigmentação dos olhos, cabelos e pele. A WS é classificada em quatro fenótipos clínicos e genéticos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 125 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting down
NucleusCytoplasmLysosome membrane
Waardenburg syndrome 2A
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box
NucleusCytoplasm
Waardenburg syndrome 2D
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
Melanosome membraneMelanosome
Albinism, oculocutaneous, 1A
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via
Cell membraneCytoplasmCytoplasm, cytoskeletonCell projection, lamellipodiumCell projection, filopodiumSecreted
Hyperpigmentation with or without hypopigmentation, familial progressive
A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087)
Nucleus
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.
Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system
Cell membrane
Waardenburg syndrome 4A
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcript
CytoplasmNucleusMitochondrion outer membrane
Waardenburg syndrome 2E
An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.
Endothelins are endothelium-derived vasoconstrictor peptides
Secreted
Hirschsprung disease 4
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Variantes genéticas (ClinVar)
781 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,460 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
25 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Waardenburg
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Publicações mais relevantes
Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.
Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities, accounting for 2-5% of congenital deafness. While molecular testing is the diagnostic gold standard, clinical recognition remains crucial in low-resource or conflict-affected environments where specialized services are unavailable. We report a Syrian male in his early 20s who presented to the otorhinolaryngology clinic seeking exemption from military service, citing long-standing right-sided hearing loss. The patient and his family had never pursued medical evaluation for his pigmentary features or hearing problem. Examination revealed a white forelock, heterochromia iridis, synophrys, broad nasal root, and dystopia canthorum (W Index 2.2). Pure-tone audiometry demonstrated severe unilateral sensorineural hearing loss. Systematic neurological, ophthalmological, and musculoskeletal assessments were normal. Due to the lack of access to genetic testing, a clinical diagnosis of WS type I was made, and the patient was referred for genetic counseling. This case highlights diagnostic challenges in conflict-affected, resource-limited settings. Despite striking phenotypic features, the patient remained undiagnosed until adulthood. Missed opportunities included the absence of childhood hearing screening, delayed recognition of pigmentary signs, and a lack of educational or psychosocial support. Literature indicates that phenotypic diagnosis is reliable when multiple major criteria are present, yet diagnostic delays significantly affect quality of life. This report underscores the importance of timely recognition of WS in low-resource contexts. Strengthening primary care awareness, implementing basic audiological and pigmentary screening, and integrating psychosocial support may help mitigate diagnostic delays and improve long-term outcomes for patients with rare genetic disorders.
Role of SoxE transcription factors in development and disease.
Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders. SoxE proteins play critical roles during the development of multiple tissues in vertebrate embryos, including the neural crest, inner ear, cartilages, and glia cells of diverse origins, heart, gonads, and gastrointestinal tract. Because they recognize the same DNA sequence, possess conserved functional domains, and have overlapping expression profiles, SoxE proteins act partly redundantly in many contexts. However, Sox8, Sox9, and Sox10 also have many unique and tissue-specific functions. In particular, Sox9 plays an essential role in chondrogenesis, whereas Sox10 is a central regulator of pigment and glia cells. The highly context-specific regulation of different sets of target genes by SoxE factors is due to their ability to interact and cooperate with many other proteins including other transcription factors, cofactors, and enzymes, which modulate their regulatory activity. The activity of SoxE proteins is also frequently altered in a context-dependent fashion by post-translational modifications such as phosphorylation, acetylation, and SUMOylation.
Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.
Waardenburg syndrome (WS) is a genetically heterogenous condition characterized by variable clinical features including congenital sensorineural hearing loss, pigmentation differences, dysmorphic features including dystopia canthorum, and other manifestations. Pathogenic variants in WS genes, including PAX3, MITF, SOX10, EDNRB, EDN3, and KITLG, account for approximately 3% of congenital hearing loss cases. The genetic heterogeneity, variable expressivity, and different subtypes of WS have made diagnosis challenging. Recent literature suggests that W-index measurements evaluating for dystopia canthorum may not accurately differentiate between WS Types 1 and 2. This retrospective chart review investigated genotype-phenotype correlations in patients with WS at the Children's Hospital of Philadelphia. This study included 56 patients with a clinical or genetic diagnosis of WS. In addition, data was collected from 1744 patients with hearing loss and W-index measurements. Phenotypic characteristics were recorded for all 56 patients and an additional 230 patients with an elevated W-index (> 1.95) lacking a diagnosis of WS to determine the predictiveness of the W-index for WS. This study updates genotype-phenotype correlations in WS, characterizes novel variants, investigates the utility and predictiveness of W-index values in children with hearing loss, and provides rationale for increasing the W-index cutoff for dystopia canthorum to reduce negative testing results.
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Paired box (PAX) genes encode a family of nine transcription factors that function as master regulators of embryogenesis, organogenesis, and lineage specification. Their tightly regulated spatial and temporal expression is essential for the development of multiple organ systems, including the central nervous system, eyes, kidneys, immune system, musculoskeletal system, and endocrine organs. Germline mutations of PAX genes result in a broad and often pleiotropic spectrum of human disease, reflecting the developmental programs governed by each family member. Pathogenic variants in PAX genes underlie diverse congenital disorders such as aniridia (PAX6), renal coloboma syndrome (PAX2), otofaciocervical syndrome with immunodeficiency (PAX1), Waardenburg syndrome (PAX3), maturity-onset diabetes of the young (PAX4), and tooth agenesis (PAX9). These conditions frequently demonstrate variable expressivity, incomplete penetrance, and overlapping phenotypes, which make it challenging to be clinically recognized. Beyond embryogenesis and embryologic development, emerging evidence indicates that several PAX proteins remain active in postnatal tissue maintenance, adult stem cell regulation, immune function, and regenerative responses (particularly PAX7 in skeletal muscle satellite cells and PAX5 in B-cell homeostasis), further expanding their clinical relevance. This review provides a synopsis of the major, clinically relevant, germline PAX gene mutations, emphasizing genotype-phenotype correlations, developmental mechanisms, and disease classification across the organ systems. By integrating molecular genetics with human pathology, we highlight the diagnostic implications of PAX genes as central determinants of congenital disease and provide a framework for understanding how alterations in the developmental transcriptional networks translate into human pathology.
SOX10 Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases.
Waardenburg syndrome (WS) is a complex genetic disorder primarily characterized by auditory and pigmentary abnormalities, resulting from neural crest cell migration disorders. We reported 2 genetically confirmed SOX10-mutant WS cases illustrating critical management principles. Both patients underwent early auditory intervention (case 1: cochlear implantation at age 3; case 2: hearing aids from age 2), resulting in preserved age-appropriate language acquisition. Each case manifested delayed puberty with biochemical evidence of hypogonadotropic hypogonadism, necessitating gonadotropin therapy to potentiate virilization and preserve fertility. Multidisciplinary care and emerging therapeutic approaches offer hope for better management. Further studies are warranted to improve the diagnosis, treatment, and quality of life of patients with WS.
Publicações recentes
A Rare Co-occurrence: Down Syndrome with Waardenburg Syndrome.
A 37-year-old asymptomatic African-American female with fundus spots.
Waardenburg-Shah Syndrome: Diagnostic and Surgical Challenges in a Resource-Limited Setting - A Rare Case Report.
Radiological phenotyping in patients with SOX10 pathogenic variants: insights into neck, brain and temporal bones abnormalities.
Role of SoxE transcription factors in development and disease.
📚 EuropePMC587 artigos no totalmostrando 195
Role of SoxE transcription factors in development and disease.
Developmental dynamics : an official publication of the American Association of AnatomistsFoveal Hypoplasia in Waardenburg Syndrome.
OphthalmologyRevisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.
American journal of medical genetics. Part ACochlear duct length variability in prelingual sensorineural hearing loss: Emphasis on Waardenburg syndrome and implications for cochlear implantation.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDelayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.
Science progressEpigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Current issues in molecular biology[Waardenburg syndrome type 1 in a black woman].
Journal francais d'ophtalmologieSOX10 Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases.
JCEM case reports[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryGenetics of Waardenburg Syndrome in Africa: A Systematic Review.
International journal of molecular sciencesLong-Term Hearing, Language, and Educational Outcomes After Cochlear Implantation in Children With Waardenburg Syndrome.
CureusMorphological evidence suggestive of a hierarchical mode of glial cell diversification and intrinsic developmental plasticity within the murine enteric nervous system.
Frontiers in neuroscienceWhole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.
Biochemical geneticsAnalysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.
Scientific reportsA novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Frontiers in geneticsAssociation of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.
Biomedical reportsMild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.
Frontiers in pediatricsGenetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
The Journal of dermatologyDevelopmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.
Translational psychiatryPigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota.
Cureus[Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryClinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Molecular genetics & genomic medicineVestibular Deficit in Patients with Waardenburg Syndrome.
BiomedicinesAssociation of PAX3 Gene Polymorphism with Three-Dimensional Nasal Root Morphology.
International journal of molecular sciencesBilateral vestibular hypofunction in children.
International journal of pediatric otorhinolaryngologyFull length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.
Scientific reportsWaardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.
American journal of medical genetics. Part AWaardenburg Syndrome in a Family.
International journal of trichologyWaardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
International journal of molecular sciences[Exploration of the pathogenic mechanism of a novel c.661_664dup (p.P222Lfs*60) variant of SOX10 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
Annals of human genetics[Mechanisms of enhanced noise susceptibility in waardenburg syndrome Sox10 p.S100Rfs*9 mutant mice].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryWaardenburg Syndrome With T-Lymphoblastic Lymphoma: A Case Report.
Pediatric blood & cancerThe Diverse Genetic Landscape of Hearing Impairment in South African Families.
Clinical geneticsPathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.
Neurogastroenterology and motilityCongenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
Journal of child neurologyWaardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars.
BMJ case reportsEtiologies of Early-Onset Hearing Impairment in Rwanda.
GenesConcurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
Ophthalmic geneticsA novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Human molecular geneticsUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet journal of rare diseasesIdentification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Scientific reportsAudiologic Outcomes After Cochlear Implantation in Prelingually Deaf Children Who Have Combined Anomalies or Disabilities.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologySyndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ear, nose, & throat journalComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
The application of clinical geneticsCase of sapphire eyes with hearing loss: Waardenburg syndrome type 1 in a young girl.
Archives of disease in childhoodComprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.
Journal of personalized medicineWaardenburg Syndrome: A Rare Disorder with an Uncommon Manifestation in a Neonate.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPWaardenburg Syndrome: A Report of a Rare Case.
CureusCochlear implantation in syndromic patients: difficulties and lessons learnt.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryGenetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
Molecular syndromologyConcurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case.
CureusAuditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis.
Frontiers in neurologyAn unusual iris in Waardenburg syndrome.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.
Animals : an open access journal from MDPIMultimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Scientific reportsPAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.
G3 (Bethesda, Md.)Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.
CureusAsymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
Ophthalmic geneticsDeciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Orphanet journal of rare diseasesCurrent phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Frontiers in geneticsClinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.
Journal of clinical medicineWaardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
BMC medical genomicsA novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Molecular biology reportsWaardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaHeterochromia caused by Waardenburg syndrome in a 2-month-old infant.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneGenetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Pigment cell & melanoma researchA novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Molecular genetics & genomic medicineWaardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.
Clinical dysmorphologyWaardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Audiology researchLoss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.
Scientific reportsPAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.
Biochemical and biophysical research communicationsIdentification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.
Molecular syndromology[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCochlear Implantation in Children with Additional Disabilities: A Systematic Review.
Children (Basel, Switzerland)Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis.
International journal of pediatric otorhinolaryngologyAcetylation reprograms MITF target selectivity and residence time.
Nature communicationsA gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.
World journal of pediatrics : WJPAssociation of autism spectrum disorder with Waardenburg syndrome in a toddler.
BMJ case reportsTime-resolved quantitative proteomic analysis of the developing Xenopus otic vesicle reveals putative congenital hearing loss candidates.
iScienceOutcomes of Cochlear implantation in early-deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis.
Laryngoscope investigative otolaryngologyRWC Update: Subretinal Cysticercosis; Pars Plana Vitrectomy for Proliferative Diabetic Retinopathy; Waardenburg Syndrome With Pseudo-Choroidal Melanocytosis.
Ophthalmic surgery, lasers & imaging retinaModeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.
Pigment cell & melanoma researchA 22q13.1 duplication in mosaicism including SOX10.
American journal of medical genetics. Part AA novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.
BMC medical genomicsPax3 deficiency diminishes melanocytes in the developing mouse cochlea.
Research squarePhenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Genetics in medicine : official journal of the American College of Medical GeneticsA De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.
The journal of international advanced otology[Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUnilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.
Case reports in ophthalmologyRole of Twins in Waardenburg Syndrome: 1916 - present/Twin Research Reviews: MZ Twins' Different Dermatoglyphics; Twins with Sagittal Suture Crainosynostosis; Blood Pressure in Female Twins; MZ Twins' Education and Political Knowledge/Media Reports: Twins Created by Reciprocal In Vitro Fertilization; Reared-Apart Triplets' Limited TV Series; Abducted Twin Infants; Winkelvoss Twins Charged by the Securities and Exchange Commission; Going From 'Me' to 'We'.
Twin research and human genetics : the official journal of the International Society for Twin StudiesWhite coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.
Animal geneticsIdentification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing.
Functional & integrative genomicsTwo induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers.
Stem cell researchChildhood Hearing Impairment in Senegal.
GenesProgressive scoliosis associated with microphthalmia with limb anomalies: A case report.
MedicineDiagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.
Yi chuan = HereditasArtificial intelligence and machine learning tools for high-performance microalgal wastewater treatment and algal biorefinery: A critical review.
The Science of the total environment[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryOcular Manifestations in Patients with Sensorineural Hearing Loss.
Journal of ophthalmic & vision researchA unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy.
Cell researchQuantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Human geneticsWaardenburg syndrome type 1 with unilateral glaucoma.
The Indian journal of medical researchMolecular etiology study of hearing loss in 13 Chinese Han families.
Frontiers in neurologyPORCN-related microphthalmia with limb anomalies: Case report and literature review.
American journal of medical genetics. Part AIdentification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Molecular genetics & genomic medicineA comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
BMC medical genomicsA Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPBilateral cochlear implantation in a child with Waardenburg syndrome: A case report.
Frontiers in pediatricsWaardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCase report: Exotropia in waardenburg syndrome with novel variations.
Frontiers in geneticsCase report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C.
Frontiers in pediatricsRhegmatogenous Retinal Detachment in Waardenburg Syndrome: A Case Report.
Korean journal of ophthalmology : KJOHearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.
Translational pediatricsNR2F1 regulates a Schwann cell precursor-vs-melanocyte cell fate switch in a mouse model of Waardenburg syndrome type IV.
Pigment cell & melanoma researchCommentary: Waardenburg syndrome: Genetics and ocular features.
Indian journal of ophthalmologyWaardenburg Syndrome Type 1.
Indian journal of ophthalmologyWaardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.
Journal of medical case reportsIris Heterochromia and Choroidal Hypopigmentation in Waardenburg Syndrome.
OphthalmologyNeurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.
BMJ case reportsEstablishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.
Stem cell researchBiallelic variants in PAX3 cause Klein syndrome.
Clinical geneticsBiallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Journal of the European Academy of Dermatology and Venereology : JEADV[Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryAssociation of type II Waardenburg syndrome with hypermetropic amblyopia.
International journal of ophthalmologyExome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Communications biologyIsolated Right Superior Vena Cava Drained to Left Atrium in a Child with Waardenburg Syndrome and Neurofibromatosis Type I.
Journal of the Saudi Heart AssociationWaardenburg-Shah syndrome rare and challenging case report from Somalia.
International journal of surgery case reportsHearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.
Frontiers in cell and developmental biologySox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.
Molecular neurobiologyGenetic etiology of hearing loss in Iran.
Human geneticsHearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.
Omics : a journal of integrative biologyEtiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.
Frontiers in pediatricsEstablishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome.
Stem cell researchPerioperative Care of a Patient With Waardenburg Syndrome.
Journal of medical casesGeneration of a heterozygous SOX10 knockout human embryonic stem cell line using CRISPR/Cas9 technology.
Stem cell researchSOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Journal of medical genetics[Application of next generation sequencing in 3 Waardenburg syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryMolecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Human genetics[Waardenburg's Syndrome Type IIA with Partial Albinism].
Klinische Monatsblatter fur AugenheilkundeWaardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
BMC medical genomicsCase Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.
Frontiers in geneticsSOX10 ablation severely impairs the generation of postmigratory neural crest from human pluripotent stem cells.
Cell death & diseaseA Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development.
Frontiers in cell and developmental biologyA Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
Molecular syndromologyIdentification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Molecular genetics & genomic medicine[Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in PAX3 gene].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryClinical phenocopies of albinism.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNerve-associated Schwann cell precursors contribute extracutaneous melanocytes to the heart, inner ear, supraorbital locations and brain meninges.
Cellular and molecular life sciences : CMLSA novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.
BMC neurologyClinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.
European journal of medical geneticsWaardenburg syndrome diagnosed in a 35-year-old lady.
Orbit (Amsterdam, Netherlands)High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.
Frontiers in geneticsAnalysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Human geneticsSOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
Journal of the Endocrine SocietyCRISPR/Cas9-mediated correction of MITF homozygous point mutation in a Waardenburg syndrome 2A pig model.
Molecular therapy. Nucleic acidsCorpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I.
Surgical neurology internationalWaardenburg Syndrome Associated With Bilateral Nasolacrimal Duct Obstruction.
Journal of pediatric ophthalmology and strabismusA novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.
International journal of pediatric otorhinolaryngologyIdentification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
Journal of clinical laboratory analysisA novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.
Endocrinology, diabetes & metabolism case reportsA de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.
International journal of pediatric otorhinolaryngologyEstablishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.
Stem cell researchPhenotypic similarities in pigs with SOX10c.321dupC and SOX10c.325A>T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome.
Journal of genetics and genomics = Yi chuan xue baoCase Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1.
Frontiers in geneticsDepigmented patches in a child.
JAAD case reportsGenetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Gene therapyKallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Frontiers in endocrinologyFrameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
PloS oneFour mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
BMC pediatricsMITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
BioMed research international[Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryEstablishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.
Stem cell researchCan Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
American journal of medical genetics. Part AHereditary Hearing Impairment with Cutaneous Abnormalities.
GenesMolecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.
BiomoleculesNovel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis.
Frontiers in geneticsWaardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.
Bioscience reportsHearing and speech performance after cochlear implantation in children with Waardenburg syndrome.
CoDASOral manifestation of Waardenburg syndrome: a case report and review of the literature.
BJR case reportsTargeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.
The Journal of international medical researchNovel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.
International journal of pediatric otorhinolaryngology[Identification of a novel mutation of SOX10 gene and analysis of the phenotype].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryWaardenburg Syndrome Type-II in Twin Siblings: An Unusual Audio-Pigmentary Disorder.
CureusA novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Human genome variationA follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
Molecular genetics & genomic medicineKIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs.
American journal of translational researchPhenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
American journal of medical genetics. Part ADoes SNAI2 mutation cause human piebaldism and Waardenburg syndrome?
American journal of medical genetics. Part AJuvenile Open-angle Glaucoma With Waardenburg Syndrome: A Case Report.
Journal of glaucomaOutcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationIdentification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryEtiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology[Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.
Neural plasticityAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.
- Role of SoxE transcription factors in development and disease.Developmental dynamics : an official publication of the American Association of Anatomists· 2026· PMID 41879230mais citado
- Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.
- Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
- SOX10 Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases.
- A Rare Co-occurrence: Down Syndrome with Waardenburg Syndrome.
- A 37-year-old asymptomatic African-American female with fundus spots.
- Waardenburg-Shah Syndrome: Diagnostic and Surgical Challenges in a Resource-Limited Setting - A Rare Case Report.
- Radiological phenotyping in patients with SOX10 pathogenic variants: insights into neck, brain and temporal bones abnormalities.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3440(Orphanet)
- MONDO:0018094(MONDO)
- GARD:5525(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1151801(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
