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Síndrome de útero duplo-hemivagina-agenesia renal
ORPHA:3411CID-10 · Q51.2CID-11 · LD2F.1YOMIM 192050DOENÇA RARA

Útero duplo, hemivagina e agenesia renal é uma anomalia urogenital congênita rara caracterizada pela presença de útero duplo (didelfo, bicorno ou septo completo ou parcial), obstrução cérvico-vaginal unilateral (obstruída hemivagina-comunicante, não comunicante ou septada e atresia cervical unilateral) e anomalias renais ipsilaterais (agenesia renal e/ou outras anomalias do trato urinário). Os pacientes geralmente são diagnosticados na puberdade após a menarca devido a dismenorreia grave recorrente, dor pélvica crônica, corrimento mucopurulento excessivo e fétido, spotting e sangramento intermenstrual (dependendo da existência de comunicações uterinas ou vaginais). febre, dispareunia e massa abdominal, pélvica ou vaginal palpável (mucocolpos ou piocolpos) também podem estar presentes.

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Introdução

O que você precisa saber de cara

📋

Útero duplo, hemivagina e agenesia renal é uma anomalia urogenital congênita rara caracterizada pela presença de útero duplo (didelfo, bicorno ou septo completo ou parcial), obstrução cérvico-vaginal unilateral (obstruída hemivagina-comunicante, não comunicante ou septada e atresia cervical unilateral) e anomalias renais ipsilaterais (agenesia renal e/ou outras anomalias do trato urinário). Os pacientes geralmente são diagnosticados na puberdade após a menarca devido a dismenorreia grave recorrente, dor pélvica crônica, corrimento mucopurulento excessivo e fétido, spotting e sangramento intermenstrual (dependendo da existência de comunicações uterinas ou vaginais). febre, dispareunia e massa abdominal, pélvica ou vaginal palpável (mucocolpos ou piocolpos) também podem estar presentes.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
60
pacientes catalogados
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q51.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Hidrocolpos
Muito frequente (99-80%)
90%prev.
Dor crônica
Muito frequente (99-80%)
90%prev.
Apresentação pélvica
Muito frequente (99-80%)
90%prev.
Metrorragia
Muito frequente (99-80%)
90%prev.
Anormalidade do colo do útero
Muito frequente (99-80%)
90%prev.
Dispareunia
Muito frequente (99-80%)
12sintomas
Muito frequente (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

HidrocolposHydrocolpos
Muito frequente (99-80%)90%
Dor crônicaChronic pain
Muito frequente (99-80%)90%
Apresentação pélvicaBreech presentation
Muito frequente (99-80%)90%
MetrorragiaMetrorrhagia
Muito frequente (99-80%)90%
Anormalidade do colo do úteroAbnormality of the uterine cervix
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202483 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de útero duplo-hemivagina-agenesia renal

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports2026 Mar 17

Adenosine-to-inosine RNA editing by ADAR1 prevents aberrant innate immunity activation by modifying endogenous double-stranded RNA. Mice carrying a left-handed double-stranded RNA (Z-RNA) binding-deficient mutation develop Aicardi-Goutières syndrome (AGS)-like encephalopathy, characterized by ventricular enlargement, gliosis, calcification, and white matter degeneration with a type I interferon (IFN) signature. However, the mechanisms underlying encephalopathy development remain unknown. Here, we show that pathology was most severe in periventricular regions where IFN-stimulated gene (ISG) expression was elevated and ependymal cells were lost, accompanied by higher IFN-α levels in cerebrospinal fluid than in sera. Blocking type I IFN signaling fully reversed these abnormalities, which was not achieved by deleting downstream PKR or ZBP1. Microglial elimination partially alleviated the encephalopathy without suppressing ISGs. In contrast, neuron- or astrocyte-specific ADAR1 dysfunction evoked robust ISG expression and recapitulated AGS-like encephalopathy, with astrocytic dysfunction causing particularly severe effects. These findings identify aberrant multicellular IFN signaling as the central driver of AGS-like encephalopathy.

#2

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 10

The human developmental disorder 3MC syndrome (Malpuech, Michels, Mingarelli, and Carnevale) features skeletal deformities associated with a deficiency of the pattern recognition molecule collectin-11 (CL-11), yet the underlying molecular and cellular mechanisms remain uncertain. Here, we demonstrate that CL-11 deletion alone does not produce skeletal abnormalities in mice; however, combined deficiencies of CL-11 with complement components MASP-2 (lectin pathway), complement factors B, or C3 (alternative pathway amplification) result in marked vertebral bone loss and spinal curvature by 12 wk of age. Ex vivo osteoclast (OCL) differentiation from bone marrow-derived cells of these double-knockout mice was profoundly impaired but was substantially restored by CL-11 supplementation. This dependence on CL-11 and complement was recapitulated in human OCLs derived from induced pluripotent stem cell lines. CL-11 and the membrane attack complex (C5b-9) colocalized to OCLs and their precursors in normal bone from embryonic development through to adulthood. Together, these findings identify CL-11 as a key regulator of osteoclastogenesis and bone homeostasis acting in concert with complement-mediated signaling, and they nominate CL-11 as a potential therapeutic target in conditions involving dysregulated osteoclast function and bone remodeling.

#3

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 24

Chromatin loading of the hexameric replicative helicase MCM2-7 complex requires coordinated interactions with the origin recognition complex (ORC), CDC6, and CDT1. MCM2-7 not bound to DNA forms a single hexamer (SH) with an open DNA entry gate between MCM2 and MCM5. Two MCM2-7 SHs can be loaded sequentially to form the double hexamer (DH) that encircles the DNA duplex. Activated MCM2-7 then unwinds DNA and initiates DNA replication. Our cryoelectron microscopy analyses show that a fraction of human MCM2-7 without DNA exists as DH. Unexpectedly, we find that the MCM3 winged helix domain (WHD) docks on MCM2 in both DNA-free DH and SH, creating a safety latch across the DNA entry gate to block DNA entry into the central channel. The safety latch can be opened by ORC-CDC6 binding. Perturbing this latch by structure-based or disease-related mutations of MCM3 causes replication defects and DNA damage checkpoint activation. Shortening the MCM3 linker between the helicase domain and WHD alleviates the cell cycle defects of the latch-strengthening mutation. Our findings uncover a regulated step in MCM2-7 loading with implications for human diseases.

#4

Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)2026 Mar 01

Acute coronary syndrome (ACS) includes a spectrum of clinical conditions, with increasing recognition of myocardial infarction with non-obstructive coronary arteries (MINOCA). Among its potential etiologies, Takotsubo syndrome (TTS) and spontaneous coronary artery dissection (SCAD) present with overlapping clinical features, posing diagnostic challenges. We present a case of a 56-year-old postmenopausal woman with recurrent chest pain and elevated troponin levels, initially diagnosed with TTS based on apical ballooning and a lack of obstructive coronary artery disease. However, persistent symptoms and echocardiographic wall motion abnormalities prompted further evaluation with cardiac magnetic resonance imaging (CMR), which demonstrated subendocardial late gadolinium enhancement (LGE) in the right coronary artery (RCA) and left anterior descending (LAD) artery territories, raising suspicion for an ischemic etiology. A subsequent coronary angiogram with optical coherence tomography (OCT) confirmed SCAD of the LAD, establishing an overlapping diagnosis of TTS and MINOCA due to SCAD. This case underscores the essential role of the multimodal imaging in refining MINOCA diagnoses and highlights the potential interplay between TTS and SCAD. Further research is needed to clarify their shared pathophysiology and improve diagnostic and therapeutic approaches in similar cases..

#5

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

Journal of clinical medicine2026 Feb 24

Background: Patients with single-ventricle physiology represent a high-risk group for heart transplantation. Due to complex anatomical and physiological challenges, including multiple prior sternotomies, pulmonary artery abnormalities, and systemic consequences of altered circulation, they represent both a surgical and a clinical challenge. We aimed to analyze perioperative challenges, as well as early and long-term complications, in this specific group of patients. Methods: We performed a retrospective data analysis of a high-volume heart transplant center, focusing on patients with single-ventricle physiology who were scheduled for heart transplantation due to end-stage heart failure. We retrospectively analyzed the period from the beginning of the transplant program in November 1985 to the end of November 2024. Results: Among 1553 transplanted patients (adults and children), 29 were transplanted due to congenital heart disease (congenital valvular disease not included). In this group, nine patients were transplanted due to end-stage heart failure in the course of single-ventricle physiology. Age at transplantation ranged from 7 to 31 years (median, 17 years), and body weight ranged from 15 to 69 kg (median, 47.9 kg). All nine patients referred for heart transplantation presented with single-ventricle physiology. Their underlying congenital heart defects were heterogeneous and included hypoplastic left heart syndrome (HLHS), double-outlet left ventricle (DOLV), transposition of the great arteries (TGA) with associated ventricular septal defects (VSDs), atrial septal defects (ASDs), valvular abnormalities such as tricuspid and or pulmonary valve atresia or stenosis, systemic or atrioventricular valve regurgitation, and vascular abnormalities, including right-sided aortic arch, aortic coarctation, and pulmonary artery hypoplasia, stenosis, or occlusion, as well as associated pulmonary vascular abnormalities such as left pulmonary artery stenosis and MAPCAs. All patients had previously undergone staged palliative procedures, including Norwood, Hemi-Fontan, Fontan, bidirectional Glenn, modified Blalock-Taussig shunts, Bjork-Fontan, or pulmonary artery banding, often with repeated interventions such as balloon angioplasty, stent placement, or MAPCA closure. Extracardiac comorbidities were common and included coagulopathies, protein-losing enteropathy, hepatic dysfunction, and chronic venous insufficiency. Preoperative functional status was markedly impaired in all patients (NYHA III-IV, INTERMACS 3-4), with severely reduced exercise capacity and thrombotic events in several individuals. Perioperative transplant surgical strategies included femoral cannulation in four cases and standard aortic and caval cannulation in five cases. Pulmonary artery reconstruction was required in all patients. Extended donor pulmonary arteries were applied in eight cases, while a bifurcated Dacron prosthesis was utilized in one patient. Perioperative mortality was 33%, with three deaths attributed to bleeding and hemodynamic instability, while overall mortality was 44% including one late death unrelated to transplantation. Protein-losing enteropathy, although persistent in the immediate postoperative period, resolved in all surviving patients, underscoring the transformative impact of transplantation. Conclusions: These findings emphasize the importance of individualized surgical planning, extended donor pulmonary artery harvesting, and careful preoperative coordination. Heart transplantation remains a viable and life-extending option for selected single-ventricle patients, despite the significant technical and clinical challenges involved.

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2026

Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2026

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports
2026

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

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[Clinical and imaging characteristics of carotid artery dissection-induced stroke in young adults associated with elongated styloid process].

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2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

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2026

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Proceedings of the National Academy of Sciences of the United States of America
2026

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

Proceedings of the National Academy of Sciences of the United States of America
2026

Interplay of Lifestyle Social Determinants and Isolation in the Risk of Metabolic Syndrome Among Spanish Workers.

Cureus
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Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

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Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

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Left Ventricular Rupture Due to Congenital Partial Defect of the Left Ventricular Free Wall.

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The Journal of pathology
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[Randomized, double-blind, double-simulated, parallel controlled clinical trial of Dingkundan Oral Liquid in treating primary dysmenorrhea with cold coagulation and blood stasis].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

The Journal of biological chemistry
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Ascher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.

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The effect of a sustainable diet and time-restricted eating and probiotic in heart failure with reduced ejection fraction patients: study protocol for a randomized, double-blind, and placebo-controlled trial.

Nutrition journal
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Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Gene
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A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.

The Journal of dermatology
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Radiologie (Heidelberg, Germany)
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Antiphospholipid antibodies and subclinical interstitial lung disease in the MESA cohort.

Respiratory research
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Severe Neurodevelopmental Disorder due to Klinefelter Syndrome and CACNA1C Variant: A Case Report.

Case reports in pediatrics
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Lambert-Eaton myasthenic syndrome presenting with occult mediastinal small cell carcinoma and positivity for anti-CV2/CRMP5 and anti-SOX1 antibodies: a case report.

BMC neurology
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Frequency of Persistent Left Superior Vena Cava and Its Impact on Outcomes in Children Undergoing Congenital Heart Surgery.

Brazilian journal of cardiovascular surgery
2026

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

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Probiotics Decrease C-Reactive Protein Levels in Depression Depending on Metabolic Syndrome Presence or Antidepressant Treatment - Secondary Results of a Randomized Clinical Trial.

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Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Diagnostics (Basel, Switzerland)
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Effects of the Sodium-Glucose Cotransporter-2 Inhibitor Velagliflozin on Insulin Concentrations in Horses With Insulin Dysregulation.

Journal of veterinary internal medicine
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Supercharged Hypercoagulability: A Case of Heparin-Induced Thrombocytopenia With Thrombosis in a Patient With Double Heterozygous Factor V Leiden and Prothrombin Mutations.

Case reports in hematology
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Multisystem Phenotypic Spectrum in Pediatric Heterotaxy Syndrome: A Case Series.

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Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study.

BMC ophthalmology
2026

Myelodysplastic neoplasms with unbalanced whole-arm translocation der(5;19)(p10;q10): association with double-hit TP53 mutations.

International journal of hematology
2025

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

Epilepsia open
2026

Prenatal Diagnosis of Fetal Heart Malformation With Abnormal Number of Pulmonary Artery Branches as the Initial Clue.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2025

The effect of hormonal contraceptives combined with vitamin D3 supplements on sexual dysfunction in women with polycystic ovary syndrome: a randomized double-blind placebo-controlled trial.

Archives of gynecology and obstetrics
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Does Initiation of Disease Modifying Therapy in Patients With Radiologically Isolated Syndrome Reduce their Risk of Conversion to Multiple Sclerosis? A Critically Appraised Topic.

The neurologist
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Knowledge, Attitude, and Practice of Polycystic Ovarian Syndrome Diagnosis among Health Care Providers in Addis Ababa, Ethiopia.

BMC women's health
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Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.

G3 (Bethesda, Md.)
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New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.

Journal of medical genetics
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Gene editing for collagen disorders: current advances and future perspectives.

Gene therapy
2025

Hypoplastic right heart with heterotaxy has worse five-year transplant-free survival than the hypoplastic left heart syndrome: a thirteen-year single-centre experience.

Cardiology in the young
2025

Preference for double-patch technique in adult patients with partial anomalous pulmonary venous return.

Cardiovascular journal of Africa
2025

Case of a Middle-Aged Woman with Sick Sinus Syndrome and Cor Triatriatum Dexter.

Brazilian journal of cardiovascular surgery
2025

Characterization and Prognostic Value of Longitudinal Strain in the Different Patterns of Takotsubo Syndrome.

Echocardiography (Mount Kisco, N.Y.)
2025

The Double-Edged Nature of the Gonadotropin-Releasing Hormone Agonist (GnRHa) Long Protocol: A Case of Paradoxical Ovarian Hyperstimulation During the Expected Downregulation Phase.

Journal of clinical medicine
2025

Double aortic arch in Honduras: an unusual cause of dysphagia in an adult patient. A case report.

Archivos peruanos de cardiologia y cirugia cardiovascular
2025

Germline mutations in B-cell non-Hodgkin lymphoma-associated hemophagocytic lymphohistiocytosis (LA-HLH) and patient outcomes.

Seminars in oncology
2025

[Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2026

Efficacy and Safety of Obeldesivir in High-Risk Nonhospitalized Patients With COVID-19 (BIRCH): A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2025

ADAR1 haploinsufficiency and sustained picornaviral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy.

mBio
2025

[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Inactivation of Thyroid Hormone Transporters Mct8/Oatp1c1 in Mouse Brain Endothelial Cells Causes Region-Specific Alterations in Central Thyroid Hormone Signaling.

Thyroid : official journal of the American Thyroid Association
2025

KMT2C and KMT2D regulate skeletal development through stage-specific epigenetic control of chondrogenesis.

bioRxiv : the preprint server for biology
2025

Dephosphorylation of connexin 43 ratio in forensic autopsy cases of sudden cardiac death without coronary artery involvement: a marker of early ischemic injury in cardiomyocytes.

Legal medicine (Tokyo, Japan)
2026

A Cytokine Storm Unveiled: Diagnostic Challenges of Macrophage Activation Syndrome in the Context of Undiagnosed Systemic Lupus Erythematosus in an Adolescent.

Annals of African medicine
2025

Double Trouble: Drug-Induced Autoimmune Hepatitis (AIH)-Primary Biliary Cholangitis (PBC) Overlap Syndrome Triggered by Hydralazine.

Cureus
2025

Targeted limbic self-neuromodulation for alleviating central sensitization symptoms in fibromyalgia.

BMC medicine
2025

Lethal Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

Double Trouble: Hemophagocytic Lymphohistiocytosis in a Recent COVID-19 Infection Associated With Epstein-Barr Virus (EBV) Reactivation.

Cureus
2025

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Italian journal of pediatrics
2025

Can plaque-identifying toothpastes inspire better oral hygiene among orthodontic patients?

Evidence-based dentistry
2025

Double Checkrein Deformity of the Hallux Involving Both Flexor and Extensor Tendons: A Case Report.

JBJS case connector
2025

A Case of IgA Nephropathy With Membranoproliferative Glomerulonephritis-Like Features.

Nephrology (Carlton, Vic.)
2025

Age Differences in Aortic Stenosis.

Reviews in cardiovascular medicine
2025

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

Molecular genetics &amp; genomic medicine
2025

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Genome medicine
2025

Effects of Chenpi Jiaosu on serum metabolites and intestinal microflora in a dyslipidemia population: a randomized controlled pilot trial.

Frontiers in endocrinology
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Efficacy of Add-On Agomelatine on Agitation, Aggression, and Neuroprotection in Alzheimer's Disease: A Randomized, Blinded, Controlled Trial.

The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry
2025

The cardiovascular effects of interleukin-6 inhibition in patients with severe coronavirus-19 infection.

The Journal of international medical research
2025

A novel tool to identify covert syndromes in children with cleft lips and palate.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
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A Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial.

International journal of molecular sciences
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Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.

Cureus
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Parameter selection and optimization of a computational network model of blood flow in single-ventricle patients.

Journal of the Royal Society, Interface
2025

A New Ten-Step Surgical Approach to Mayer-Rokitansky-Küster-Hauser Syndrome-A Preliminary Report of Three Cases.

Journal of clinical medicine
2025

Pathogenesis and therapeutic effect of sitagliptin in experimental diabetic model of COVID-19.

Biochimica et biophysica acta. Molecular basis of disease
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Associated Coalitions of Tarsal Bones: Review of the Literature and Presentation of a Classification.

The Journal of the American Academy of Orthopaedic Surgeons
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Global Burden of Complex Regional Pain Syndrome in At-Risk Populations: Estimates of Prevalence From 35 Countries Between 1993 and 2023.

Anesthesia and analgesia
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A Case Report of Systemic Capillary Leak Syndrome: When More Than One Inciting Factor Exists, the Question Is Who Pulls the Trigger?

Cureus
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Transseptal approach for pseudoaneurysms at the aortic root in Loeys-Dietz syndrome.

Interdisciplinary cardiovascular and thoracic surgery
2024

Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study.

Annals of pediatric cardiology
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Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

European thyroid journal
2025

Triple mosaic variants of PURA in a patient with multiple congenital anomalies.

Journal of human genetics
2024

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

BMJ open
2025

Exploring the various functions of PHD finger protein 20: beyond the unknown.

Toxicological research
2024

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Genes
2024

Brugada Syndrome and Kawasaki Disease in a Two-Year-Old: A Case of Double Jeopardy.

Cureus
2024

Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.

Cureus
2024

Evans syndrome as a presentation in systemic lupus erythematous, coexisting with Hashimoto's thyroiditis and pernicious anemia: a case report.

Journal of medical case reports
2024

Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.

Central-European journal of immunology
2024

Complete bicorporeal uterus, double cervix, longitudinal obstructing vaginal septum: an integrated approach for one-stop diagnosis and ultrasound-guided endoscopic hymen-sparing treatment.

Facts, views &amp; vision in ObGyn
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The Significance of Detecting an Unusual Myeloblast Immunophenotype in a Presumptive Clinical Diagnosis of Myelodysplastic Syndromes.

Archives of pathology &amp; laboratory medicine
2025

Co-occurrence of a previously unreported double-headed accessory psoas major with an unusually positioned accessory iliacus muscle: case report.

Folia morphologica
2025

Topical application of the Hedgehog inhibitor patidegib in patients with Gorlin syndrome: a phase II trial.

The British journal of dermatology
2024

The effect of sulforaphane on markers of inflammation and metabolism in virally suppressed HIV patients.

Frontiers in nutrition
2025

Disease-associated B cells and immune endotypes shape adaptive immune responses to SARS-CoV-2 mRNA vaccination in human SLE.

Nature immunology
2025

Twin atrioventricular nodes and accessory pathways in congenital heart diseases with abnormal atrioventricular connections: Association with the developmental hierarchy of cardiac morphology.

Heart rhythm
2025

Effect of Lingual Nerve Block and Localised Somatosensory Abnormalities in Patients With Burning Mouth Syndrome-A Randomised Crossover Double-Blind Trial.

Journal of oral rehabilitation
2024

The cGAS-STING pathway is an in vivo modifier of genomic instability syndromes.

bioRxiv : the preprint server for biology
2025

A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.

American journal of medical genetics. Part A
2024

Successful repair of infracardiac total anomalous pulmonary venous connection with nonconfluent bilateral pulmonary veins.

Asian cardiovascular &amp; thoracic annals
2024

The Double Bell's: Unraveling Idiopathic Bilateral Facial Paralysis in a 31-Year-Old.

Cureus
2024

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS).

Journal of clinical immunology
2024

Efficacy and safety of a lipid-containing artificial tear compared with a non-lipid containing tear: a randomized clinical trial.

BMC ophthalmology
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The efficacy of expanded non-invasive prenatal testing (NIPT) in a high-risk twin pregnancies cohort.

Acta obstetricia et gynecologica Scandinavica
2024

Tracheal Stenosis Associated With Operation for Pneumothorax With Marfan Syndrome: A Case Report.

Cureus
2025

Optimizing sacral screw fixation in patients with caudal regression syndrome.

Spine deformity
2024

Evaluation of tracheal diameter and angles in fetuses with double aortic arch using prenatal ultrasound: implications for postnatal management.

Frontiers in medicine
2024

Constrictive Pericarditis and Protein-Losing Enteropathies: Exploring the Heart-Gut Axis.

Journal of clinical medicine
2024

Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.

BMC pregnancy and childbirth
2024

Double-Outlet Right Ventricle With Intact Ventricular Septum and Left Atrioventricular Valve Regurgitation in a Patient With Right Atrial Isomerism.

World journal for pediatric &amp; congenital heart surgery
2025

Reverse double switch operation for the borderline left ventricle.

The Journal of thoracic and cardiovascular surgery
2024

Double-orifice mitral valve associated with mild mitral stenosis and coarctation of the aortic isthmus: A rare case of incomplete form of Shone's syndrome.

Echocardiography (Mount Kisco, N.Y.)
2024

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder.

Journal of cachexia, sarcopenia and muscle
2025

Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.

Journal of applied genetics
2024

Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.

Genetics
2024

Lung ultrasound to predict the duration of respiratory support in newborn infants with respiratory distress.

Acta paediatrica (Oslo, Norway : 1992)
2024

Percutaneous transcatheter treatment for partial anomalous pulmonary right venous connection to the superior caval vein without atrial septal defect.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2024

Double Cortex Syndrome: An Unusual Cause of Seizures.

Cureus
2024

Neonatal lupus erythematosus presenting with effusions: A 13-year retrospective study.

Clinical rheumatology
2024

Phase 1 dose escalation study of the MDM2 inhibitor milademetan as monotherapy and in combination with azacitidine in patients with myeloid malignancies.

Cancer medicine
2024

Recombinant human nerve growth factor (cenegermin) for moderate-to-severe dry eye: phase II, randomized, vehicle-controlled, dose-ranging trial.

BMC ophthalmology
2024

Cardiovascular risk reduction in type 2 diabetes: What the non-specialist needs to know about current guidelines.

Diabetes, obesity &amp; metabolism
2024

Metabolic and endocrine changes induced by cinnamon in women with polycystic ovarian syndrome: A pilot study.

Avicenna journal of phytomedicine
2024

[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2024

[Humoral Immunity Abnormalities in Advanced Maternal-Age Women With Recurrent Spontaneous Abortion: A Single Center Study].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2024

Serotonin Syndrome-Mimicking Manifestations in a Patient with Systemic Lupus Erythematosus.

Journal of clinical medicine
2024

In Search of Mouse Models for Exfoliation Syndrome.

American journal of ophthalmology
2025

Double Trouble: A Case Report of Caudal Duplication Syndrome.

Urology
2024

Prenatal Maternal Psychological Distress During the COVID-19 Pandemic and Newborn Brain Development.

JAMA network open
2024

Rare Complications of CSF Diversion: Paradoxical Neuroimaging Findings in a Double, Chiasmic Case Report.

Diagnostics (Basel, Switzerland)
2024

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Advances in experimental medicine and biology
2024

Clinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Advances in experimental medicine and biology
2024

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.

Cureus
2024

How to treat monogenic SLE?

Best practice &amp; research. Clinical rheumatology
2024

[Blood count abnormalities in the association of sickle cell disease and malaria in clinical hematology at the CNHU-HKM in Cotonou (Bénin)].

Medecine tropicale et sante internationale
2024

Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).

Intractable &amp; rare diseases research
2024

Relationship between diagnosis of conus arteriosus malformation and genetic diagnosis results in fetal cardiac axis abnormalities by echocardiography during middle pregnancy.

Frontiers in cardiovascular medicine
2024

Enhanced Bone Marrow Aspirate Concentrate (BMAC) Preparation Strategy in the Management of Chondromalacia Patella: A Case Report.

Cureus
2024

[Randomized,double-blind,parallel controlled,multicenter clinical trial of effectiveness and safety of Shexiang Zhuifeng Zhitong Ointment in alleviating pain in knee osteoarthritis(syndrome of cold-dampness obstruction)].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2024

Detection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative non-invasive prenatal testing result in the first trimester.

Taiwanese journal of obstetrics &amp; gynecology
2024

Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity.

Frontiers in immunology
2024

Combining Double-Dose and High-Dose Pulsed Dapsone Combination Therapy for Chronic Lyme Disease/Post-Treatment Lyme Disease Syndrome and Co-Infections, Including Bartonella: A Report of 3 Cases and a Literature Review.

Microorganisms
2024

Anamorelin for the Treatment of Cancer Anorexia-Cachexia Syndrome.

Current oncology reports
2024

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

European journal of human genetics : EJHG
2024

Surgical treatment for recurrent patellar dislocation with severe torsional deformities: Double-level derotational osteotomy may not have a clear advantage over single-level derotational osteotomy in improving clinical and radiological outcomes.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2024

Metabolic Status Influences Probiotic Efficacy for Depression-PRO-DEMET Randomized Clinical Trial Results.

Nutrients
2024

Clinical implications of dextrocardia based on four visceroatrial situs studies.

Pediatrics and neonatology
2024

Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome.

Neuropathology and applied neurobiology
2024

A randomized double-blind, placebo-controlled trial to evaluate the safety and efficacy of live Bifidobacterium longum CECT 7347 (ES1) and heat-treated Bifidobacterium longum CECT 7347 (HT-ES1) in participants with diarrhea-predominant irritable bowel syndrome.

Gut microbes
2024

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome.

iScience
2024

A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer.

International journal of molecular sciences
2024

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.

Molecular and cellular endocrinology
2024

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Prenatal diagnosis
2024

Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.

Pediatric dermatology
2025

Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.

Orbit (Amsterdam, Netherlands)
2024

Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.

Cureus
2024

Phase 2 study of the efficacy and safety of ponsegromab in patients with cancer cachexia: PROACC-1 study design.

Journal of cachexia, sarcopenia and muscle
2024

The bidirectional relationship of depression and disturbances in B cell homeostasis: Double trouble.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2024

Giant coronary sinus aneurysm: an incidental discovery in a case of acute coronary syndrome.

BMJ case reports
2024

Tonghua Liyan granules in the treatment of Laryngopharyngeal reflux disease with stagnation of phlegm and qi syndrome: a randomized, double-blind, placebo-controlled study.

Frontiers in pharmacology
2024

CD19-CAR-DNT cells (RJMty19) in patients with relapsed or refractory large B-cell lymphoma: a phase 1, first-in-human study.

EClinicalMedicine
2024

TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.

PLoS genetics
2024

Ocular motor and vestibular dysfunction in central nervous system lymphoma.

European journal of neurology
2024

Metabolic Abnormalities Following Tirzepatide Monotherapy in Japanese Patients with Type 2 Diabetes: A Phase 3 SURPASS J-mono Post Hoc Analysis.

Diabetes therapy : research, treatment and education of diabetes and related disorders
2023

Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD.

Frontiers in endocrinology
2024

Innate Immune Activation and Mitochondrial ROS Invoke Persistent Cardiac Conduction System Dysfunction after COVID-19.

bioRxiv : the preprint server for biology
2024

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

Life science alliance
2024

Anatomical and physiological diagnostic discrepancies in fetuses with single-ventricle congenital heart disease in a contemporary cohort.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

[Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Unmet needs in epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review.

Epilepsy research
2024

Long-Term Bowel Vaginoplasty With a Single Yang-Monti Tube.

Urology practice
2023

Case Report: Imaging features of a new type double inferior vena cava malformation and review.

Frontiers in cardiovascular medicine
2023

Cannabidiol versus placebo as adjunctive treatment in early psychosis: study protocol for randomized controlled trial.

Trials
2023

Nano-curcumin effects on nicotine dependence, depression, anxiety and metabolic parameters in smokers: A randomized double-blind clinical study.

Heliyon
2023

AGE AND GENDER-SPECIFIC FEATURES OF CYTOGENETIC CHANGES IN BUCCAL EPITHELIUM IN INDIVIDUALS RESIDING IN THE «SICK BUILDING».

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2024

Question Mark Ear: An Unusual Anomaly and a Novel Surgical Technique for Reconstruction.

The Journal of craniofacial surgery
2023

Glomerular lipidosis as a feature of renal-limited macrophage activation syndrome in a transplanted kidney: a case report.

BMC nephrology
2023

Mesencephalic trigeminal nucleus neurons with collaterals to both eyelid and masseter muscles shown by fluorescent double-labeling, revealing a potential mechanism for Marcus Gunn Syndrome.

PloS one
2024

Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.

European journal of pediatrics
2024

Unstable angina as a result of coronary steal syndrome due to escape flow from a double large coronary-pulmonary artery fistula.

Acta cardiologica
2024

Lower Socioeconomic Status is Associated with an Increased Incidence and Spectrum of Major Congenital Heart Disease and Associated Extracardiac Pathology.

Pediatric cardiology
2023

Diverse ultrasound image features of unilateral genital tract obstruction with ipsilateral renal anomaly syndrome on genitourinary system segmental sequential ultrasound screening and the accuracy of ultrasonic diagnosis.

Quantitative imaging in medicine and surgery
2024

[Ascher syndrome: More than just a lip disorder].

Semergen
2023

An Interesting Case of Dengue Encephalitis With Parkinsonism Sequela.

Cureus
2023

Experimental study on physical exercise in diabetes: pathophysiology and therapeutic effects.

European journal of translational myology
2023

Myelodysplastic Syndrome After Anti-CD19 Chimeric Antigen Receptor T-cell Therapy: A Case Series.

Cureus
2023

Herlyn-Werner-Wunderlich syndrome: A fertility-sparing approach to a rare mullerian anomaly.

JBRA assisted reproduction
2023

Association of per- and polyfluoroalkyl substances with hepatic steatosis and metabolic dysfunction-associated fatty liver disease among patients with acute coronary syndrome.

Ecotoxicology and environmental safety
2024

Mammalian DNA ligases; roles in maintaining genome integrity.

Journal of molecular biology
2023

Antiviral efficacy of RAY1216 monotherapy and combination therapy with ritonavir in patients with COVID-19: a phase 2, single centre, randomised, double-blind, placebo-controlled trial.

EClinicalMedicine
2023

Short- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study.

Frontiers in pediatrics
2023

Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features.

Journal of clinical immunology
2023

Clinical outcomes of vanishing twin syndrome and selective fetal reduction after double embryos transferred in IVF pregnancy: A propensity score matching study.

European journal of obstetrics, gynecology, and reproductive biology
2023

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

Human genetics
2023

Double nutcracker syndrome in a patient with circumaortic venous ring: a rare case report.

Journal of ultrasonography
2024

The effect of Ding-kun-dan comparing with Marvelon on primary dysmenorrhea: A prospective, double-blind, multicenter, randomized controlled trial.

Journal of ethnopharmacology
2023

Case Report: Incidental finding of Zinner syndrome in an asymptomatic 53-year-old Palestinian male.

Frontiers in urology
2023

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Molecular genetics &amp; genomic medicine
2023

Characterization of ultrasound and postnatal pathology in fetuses with heterotaxy syndrome.

Frontiers in cardiovascular medicine

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Doenças relacionadas

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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.

  1. Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Gouti&#xe8;res syndrome-like encephalopathy.
    Cell reports· 2026· PMID 41855203mais citado
  2. Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41774788mais citado
  3. A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41719335mais citado
  4. Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.
    Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)· 2026· PMID 41863107mais citado
  5. Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
    Journal of clinical medicine· 2026· PMID 41827132mais citado
  6. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
    Orphanet J Rare Dis· 2023· PMID 38042851recente
  7. The Human Phenotype Ontology in 2024: phenotypes around the world.
    Nucleic Acids Res· 2024· PMID 37953324recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3411(Orphanet)
  2. OMIM OMIM:192050(OMIM)
  3. MONDO:0008636(MONDO)
  4. GARD:1910(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q28439901(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

Síndrome de útero duplo-hemivagina-agenesia renal
Compêndio · Raras BR

Síndrome de útero duplo-hemivagina-agenesia renal

ORPHA:3411 · MONDO:0008636
Prevalência
<1 / 1 000 000
Casos
60 casos conhecidos
Herança
Unknown
CID-10
Q51.2 · Outra duplicação do útero
CID-11
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1860549
Wikidata
Wikipedia
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