Forma de displasia ectodérmica ligada ao cromossomo X que resulta de mutações no gene que codifica a ectodisplasina.
Introdução
O que você precisa saber de cara
Forma de displasia ectodérmica ligada ao cromossomo X que resulta de mutações no gene que codifica a ectodisplasina.
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
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 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
2 genes identificados com associação a esta condição. Padrão de herança: X-linked recessive.
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity) Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R Binds only to the receptor EDA2R
Cell membraneSecreted
Ectodermal dysplasia 1, hypohidrotic, X-linked
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6
Membrane
Variantes genéticas (ClinVar)
598 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 — Displasia ectodérmica hipohidrótica ligada ao X
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
21 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Prenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.
X-linked hypohidrotic ectodermal dysplasia (HED) is a rare congenital hereditary disorder primarily affecting ectodermal-derived organs, including hair, sweat glands, and teeth. This case report presents a prenatal diagnosis of HED in a fetus without a familial history or parental phenotypic manifestations. The critical prenatal ultrasound finding was an abnormality in the alveolar bone. Genetic testing confirmed the fetus as a hemizygote for a mutation in the ectodysplasin A gene. This comprehensive study delineates the prenatal ultrasound observations, genetic testing outcomes, and post-mortem pathological findings associated with this syndrome. We also highlight essential considerations for early diagnosis through prenatal ultrasound examinations.
Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
Here, we systematically investigated the effects of EDA1 variants on apoptosis, migration, and adhesion in ameloblast-like LS8 cells and identified downstream effectors of the EDA-NF-κB pathway through RNA sequencing (RNA-seq) combined with in vivo and in vitro validation. LS8 cells were transiently transfected with four constructs: wild-type (Wt) EDA1, nonsyndromic tooth agenesis-associated EDA1 variant (EDA1-A259E), X-linked hypohidrotic ectodermal dysplasia-associated EDA1 variant (EDA1-H252L), or empty vector control (pCMV-C-FLAG). We used flow cytometry, wound-healing assay, and cell counting kit 8 assay to assess cell apoptosis, migration, and adhesion, respectively. High-throughput RNA-seq was used to identify differentially expressed genes, which were subsequently validated through quantitative polymerase chain reaction and immunoblotting. Spatiotemporal Fosb expression patterns were comparatively analyzed in Wt and Tabby mouse tooth germs through in situ hybridization by using RNAscope. Wt EDA1 transiently enhances cellular migratory capacity, a function compromised in the pathogenic EDA1 variants. The EDA-NF-κB pathway operates through FOSB-mediated transcriptional regulation, as evidenced by coordinated suppression of Fosb expression at transcriptional and translational levels in the mutant models. Therefore, FOSB is a candidate downstream effector in EDA1-mediated odontogenesis. These results provide mechanistic insights into ectodermal dysplasia pathogenesis.
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial. Affected fetuses can be identified by the number of tooth germs during a routine ultrasound scan in mid-gestation. To understand the attitudes of female XLHED carriers towards prenatal treatment and ultrasonographic screening of the fetus, we analyzed an earlier and a very recent survey among those women and the actual decisions of potential trial participants. Initial analyses were based on a self-administered survey of 167 female XLHED carriers conducted in 2011. A similar questionnaire was completed 12 years later by 72 female XLHED carriers aged 18-45 years. Subsequently, both the path to diagnosis and further decision-making of the first 33 pregnant women screened for participation in the EDELIFE trial were investigated. Most women diagnosed with XLHED considered this disease as an obstacle to having children: About one third had decided not to have children, another third would monitor their pregnancy using invasive genetic testing. In both surveys, a small number of women stated that they would consider termination of pregnancy depending on the test result. When it came to participating in the clinical trial, 80% were likely to take part (17% moderately likely, 63% very likely). Among the first pregnant women screened for this trial, 48% underwent invasive tests, while 52% relied on non-invasive tooth germ imaging for fetal XLHED diagnosis. One pregnancy with an affected fetus was terminated, another one resulted in a miscarriage, one woman declined to participate in the trial, and 12 women (80%) decided to have the affected fetuses treated. Ultrasound-based screening and prenatal treatment of the fetus are viewed positively by the vast majority of female XLHED carriers.
Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare monogenic disorder characterized by hypohidrosis, hypotrichosis, and hypodontia, caused primarily by pathogenic variants in the EDA gene. XLHED predominantly affects males due to its X-linked recessive inheritance, while female carriers may exhibit variable phenotypes due to random X-inactivation. Early diagnosis is critical for timely counseling and emerging therapeutic interventions. We report a rare prenatal diagnosis of XLHED in dizygotic dichorionic male twins during a dichorionic diamniotic pregnancy. At 24 weeks' gestation, ultrasonographic anomalies-facial dysmorphisms, oligodontia, and hypoechogenic skin-raised suspicion for ectodermal dysplasia. Non-invasive prenatal test and targeted next-generation sequencing (NGS) of Cell-free DNA identified an hemizygous EDA deletion (c.612_629del; p.Ile205_Gly210del) with 52% variant allele frequency. This in-frame deletion affects a highly conserved region in the TNF homology domain of ectodysplasin-A1, likely compromising protein function. The variant was confirmed in both fetuses via genetic analysis on amniotic fluid and in the heterozygous state in the mother, consistent with X-linked recessive inheritance. Family history revealed a maternal uncle with XLHED. Additional heterozygous variants were also identified in CPT2, GBA1, GJB2, and SMN1 genes. Following comprehensive genetic counseling, the mother opted for abortion. This case underscores the value of applying advanced genomic technologies-cfDNA-based NGS-for prenatal diagnosis of rare genetic disorders. The identification of apathogenic EDA variant expands the mutational spectrum of XLHED and supports early diagnosis for informed reproductive decisions and potential access to emerging prenatal therapies. Broader application of such technologies may improve outcomes in future pregnancies at risk for monogenic disorders.
A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during the prenatal period. Although a prenatal ultrasonographic examination will detect early signs of the disease, there are few reports on specific prenatal ultrasonographic features of ectodermal dysplasia. Genetic diagnosis can confirm the disease, but the numerous gene variants that cause ectodermal dysplasia have not been fully identified. Our case was a multiparous woman carrying a single male fetus who underwent a fetal ultrasound examination at 23 weeks of gestation. The examination revealed thin alveolar bone, with no presence of hypoechoic tooth germ tissue in both the upper and lower alveolar bones. The seven-year-old male proband in this family manifested a clinical phenotype of sparse hair and underdeveloped teeth, and trio-based whole-exome sequencing (WES) performed on both parents and the proband revealed a novel and likely pathogenic variant of the EDA gene (NM_001399.4: c.806G > T, p.Gly269Val) associated with X-linked HED (XLHED; OMIM:305100). Based on the results of the fetal ultrasound examination and the results of the proband's genetic testing, the couple ultimately decided to terminate the pregnancy. The DNA of the fetal skin tissue after the induced abortion was extracted for Sanger sequencing, and it was confirmed that the fetus possessed ectodermal dysplasia generated by the afore-mentioned EDA gene mutation. Our study suggested that prenatal ultrasonography constituted an effective method for screening ectodermal dysplasia during pregnancy. In addition, our findings expanded the range of EDA variants in XLHED patients; and this discovery may now assist potential patients in receiving an accurate diagnosis, allowing them to make appropriate reproductive decisions.
Publicações recentes
Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
Prenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.
A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease.
📚 EuropePMC160 artigos no totalmostrando 93
Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
Frontiers in cell and developmental biologyPrenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
GenesPrenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.
Journal of clinical ultrasound : JCUA novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
BMC pregnancy and childbirthX-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease.
Molecular genetics and metabolism reportsAttitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
Orphanet journal of rare diseasesAn Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia.
CureusEDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
GenesX-linked hypohidrotic ectodermal dysplasia with a deletion in exon 2 of the EDA gene: a case report and literature review.
European journal of dermatology : EJDA Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Clinical, cosmetic and investigational dermatologyCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchA missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
PloS oneTranscription factor FoxO1 regulates myoepithelial cell diversity and growth.
Scientific reportsRare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1.
CureusThe oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant.
HeliyonIdentification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Oral diseasesX-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments.
CureusNovel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.
Clinical and experimental dermatologyA Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
International journal of molecular sciencesA novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.
Archives of oral biologyA call for implementing augmented intelligence in pediatric dermatology.
Pediatric dermatologyNext generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.
Italian journal of dermatology and venereologyEctodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.
The Journal of investigative dermatologyProtocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
GenesCongenital Nail Disorders among Children with Suspected Ectodermal Dysplasias.
GenesEctodysplasin A1 Deficiency Leads to Osteopetrosis-like Changes in Bones of the Skull Associated with Diminished Osteoclastic Activity.
International journal of molecular sciencesRare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern.
Diagnostics (Basel, Switzerland)Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.
Frontiers in geneticsFunctional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.
Frontiers in geneticsThree Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.
Frontiers in geneticsReproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia.
Journal of the European Academy of Dermatology and Venereology : JEADVPrenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
Advances in experimental medicine and biologyEctodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
American journal of medical genetics. Part AUnderstanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.
Journal of cellular biochemistryA novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.
Molecular genetics and metabolism reportsTwo novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.
Molecular genetics & genomic medicine[Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
Italian journal of pediatricsGenetic analysis of a possible case of canine X-linked ectodermal dysplasia.
The Journal of small animal practicePrenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.
Journal of clinical ultrasound : JCU[Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsX-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.
Animals : an open access journal from MDPINo evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
Orphanet journal of rare diseasesExome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyA novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia.
Clinical and experimental dermatologyMethods for the Administration of EDAR Pathway Modulators in Mice.
Methods in molecular biology (Clifton, N.J.)[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsX-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.
Boletin medico del Hospital Infantil de MexicoSafety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
British journal of clinical pharmacologyA novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.
MedicineThe characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review.
American journal of medical genetics. Part ANatural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Orphanet journal of rare diseasesEDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Orphanet journal of rare diseasesAn unusual manifestation of X-linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma.
Clinical and experimental dermatologyA novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.
Cellular & molecular biology lettersA novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
Archives of oral biologyProsthetic rehabilitation of a child with X-linked hypohidrotic ectodermal dysplasia: a case report and 12-month follow-up.
General dentistryX-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Journal of the European Academy of Dermatology and Venereology : JEADVNovel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.
The Journal of dermatologyNovel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
Cytogenetic and genome researchX-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities.
Topics in companion animal medicinePrenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model.
The Journal of pharmacology and experimental therapeuticsA de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.
G3 (Bethesda, Md.)Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Prenatal diagnosisA frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.
Animal geneticsDental Management and Prosthetic Rehabilitation of Patients Suffering from Hypohidrotic Ectodermal Dysplasia: A Report of Two Case Histories.
The International journal of prosthodonticsUpper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryMutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.
Genetic testing and molecular biomarkersCombined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionGenetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.
Journal of clinical laboratory analysisDefective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice.
Journal of dental researchPrenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
The New England journal of medicineA microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Nature medicineFirst report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.
Clinica chimica acta; international journal of clinical chemistryNovel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
GenesA novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.
Clinical and experimental dermatologyX-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
Cytogenetic and genome researchMutation detection and prenatal diagnosis of XLHED pedigree.
PeerJEctodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway.
Journal of cellular and molecular medicineAutomatic recognition of the XLHED phenotype from facial images.
American journal of medical genetics. Part AEctodysplasin A protein promotes corneal epithelial cell proliferation.
The Journal of biological chemistryHypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.
Geburtshilfe und FrauenheilkundeDelayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes.
The Journal of dermatologyA Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype.
G3 (Bethesda, Md.)Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED).
Social science & medicine (1982)Ectodysplasin A Pathway Contributes to Human and Murine Skin Repair.
The Journal of investigative dermatologyIdentification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.
Genetics and molecular research : GMR[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].
Archivos argentinos de pediatriaPrenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR.
The AnalystNovel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
Oral diseasesDental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care.
The International journal of prosthodonticsCase of X-linked hypohidrotic ectodermal dysplasia with a novel EDA missense mutation.
The Journal of dermatologyA novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
Journal of geneticsAssociações
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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.
- Prenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.
- Transcriptome analysis identifies EDA1 variants disrupt FOSB-mediated regulation of odontogenic epithelial cell behaviors during dental germ development.
- Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.
- Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
- A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
- X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:181(Orphanet)
- OMIM OMIM:305100(OMIM)
- MONDO:0010585(MONDO)
- GARD:10427(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
