Raras
Buscar doenças, sintomas, genes...
Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita
ORPHA:2255CID-10 · Q87.8CID-11 · KB60.2YOMIM 600001DOENÇA RARA

Diabetes mellitus sindrômico raro, caracterizado por agenesia pancreática parcial, diabetes mellitus e anomalias cardíacas (incluindo transposição dos grandes vasos, defeitos do septo ventricular ou atrial, estenose pulmonar ou persistência do canal arterial).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Diabetes mellitus sindrômico raro, caracterizado por agenesia pancreática parcial, diabetes mellitus e anomalias cardíacas (incluindo transposição dos grandes vasos, defeitos do septo ventricular ou atrial, estenose pulmonar ou persistência do canal arterial).

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
10
pacientes catalogados
Início
All ages
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q87.8
🇧🇷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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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
12 sintomas
❤️
Coração
8 sintomas
📏
Crescimento
7 sintomas
🧠
Neurológico
6 sintomas
🫘
Rins
2 sintomas
🦴
Ossos e articulações
1 sintomas

+ 16 sintomas em outras categorias

Características mais comuns

90%prev.
Diabetes mellitus neonatal insulino-dependente
Muito frequente (99-80%)
90%prev.
Insuficiência pancreática exócrina
Muito frequente (99-80%)
75%prev.
Hérnia diafragmática congênita
Frequência: 3/4
55%prev.
Déficit de crescimento
Frequente (79-30%)
55%prev.
Retardo do crescimento intrauterino
Frequente (79-30%)
55%prev.
Deficiência intelectual
Frequente (79-30%)
54sintomas
Muito frequente (2)
Frequente (13)
Ocasional (31)
Muito raro (4)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.

Diabetes mellitus neonatal insulino-dependenteNeonatal insulin-dependent diabetes mellitus
Muito frequente (99-80%)90%
Insuficiência pancreática exócrinaExocrine pancreatic insufficiency
Muito frequente (99-80%)90%
Hérnia diafragmática congênitaCongenital diaphragmatic hernia
Frequência: 3/475%
Déficit de crescimentoFailure to thrive
Frequente (79-30%)55%
Retardo do crescimento intrauterinoIntrauterine growth retardation
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202249 papers
Linha do tempo
2026Hoje · 2026📈 2022Ano 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

GATA6Transcription factor GATA-6Disease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activati

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
Formation of definitive endodermCardiogenesisDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsSurfactant metabolismFactors involved in megakaryocyte development and platelet production
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
121.3 TPM
Glândula adrenal
65.6 TPM
Fallopian Tube
61.2 TPM
Aorta
54.6 TPM
Artéria coronária
51.1 TPM
OUTRAS DOENÇAS (11)
conotruncal heart malformationstetralogy of fallotpancreatic hypoplasia-diabetes-congenital heart disease syndromeatrial septal defect 9
HGNC:4174UniProt:Q92908

Variantes genéticas (ClinVar)

175 variantes patogênicas registradas no ClinVar.

🧬 GATA6: GRCh38/hg38 18q11.1-23(chr18:20966775-80255845)x3 ()
🧬 GATA6: NM_005257.6(GATA6):c.1405G>A (p.Gly469Arg) ()
🧬 GATA6: NM_005257.6(GATA6):c.1486A>T (p.Lys496Ter) ()
🧬 GATA6: NM_005257.6(GATA6):c.1429-2A>G ()
🧬 GATA6: NM_005257.6(GATA6):c.1481_1487del (p.Lys494fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 47 variantes classificadas pelo ClinVar.

31
14
2
Patogênica (66.0%)
VUS (29.8%)
Benigna (4.3%)
VARIANTES MAIS SIGNIFICATIVAS
GATA6: NM_005257.6(GATA6):c.1405G>A (p.Gly469Arg) [Likely pathogenic]
GATA6: NM_005257.6(GATA6):c.1115_1122del (p.Val372fs) [Likely pathogenic]
GATA6: NM_005257.6(GATA6):c.1104_1105insACGCTCCCGGTGCC (p.Pro369fs) [Pathogenic]
GATA6: NM_005257.6(GATA6):c.1135+1G>A [Likely pathogenic]
GATA6: NM_005257.6(GATA6):c.1135+2T>C [Likely pathogenic]

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 hipoplasia pancreática-diabetes-cardiopatia congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita

Centros para Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences2026 Mar 16

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a highly prevalent and progressive liver condition that is increasingly recognized for its systemic cardiometabolic impacts. MASLD increases the risk of cardiovascular and renal complications mainly through shared mechanisms, such as insulin resistance, low-grade inflammation, oxidative stress, atherogenic dyslipidemia, and a procoagulant state. Although these interrelated processes drive multisystem damage, MASLD remains often underdiagnosed in cardiology and nephrology settings and is excluded from the recently proposed framework for cardiovascular-kidney-metabolic (CKM) syndrome. Increasing recognition of the bidirectional interconnections between MASLD, cardiovascular disease, and chronic kidney disease suggests the need for an expanded cardiovascular-kidney-liver-metabolic (CKLM) model. Integrating MASLD into this framework supports earlier identification using non-invasive screening tools, encourages coordinated multidisciplinary care, and highlights the potential of pharmacotherapies, such as glucagon-like peptide-1 receptor agonists and sodium-glucose co-transporter 2 inhibitors, with cross-organ benefits. This review aims to reframe MASLD within this broader multisystem context and explore the implications of its integration into an expanded CKLM framework, with the goal of improving clinical outcomes and addressing multimorbidity.

#2

Pathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.

Poultry science2026 Feb 15

Fowl adenoviruses (FAdVs) are important pathogens affecting poultry worldwide. Different serotypes cause distinct disease syndromes in domestic chickens, including gizzard erosions (GE), inclusion body hepatitis (IBH), and hepatitis-hydropericardium syndrome (HHS). Despite the economic impact, the evaluation of pathogenicity and genomic features of Brazilian isolates has not yet been assessed. This study aimed to investigate the pathogenic characteristics and whole-genome features of two FAdV Brazilian isolates, BRMSA3762 (FAdV-1) and BRMSA3761 (FAdV-11). For this, pathogenicity was evaluated through inoculation of day-old specific-pathogen-free chickens and embryos. Infected birds were macroscopically and histologically examined in trachea, heart, proventriculus, gizzard, liver, pancreas, duodenum, kidney, and bursa of Fabricius. Also, we analyzed viral distribution in tissues and cloacal virus shedding through real-time PCR. Furthermore, whole-genome sequencing enabled phylogenetic reconstruction and recombination analyses. Results revealed that FAdV-1 was pathogenic, causing severe erosions in the gizzard and a slight alteration in the heart tissue, while FAdV-11 exhibited higher virulence and affected several tissues, including pancreas, liver, gizzard, bursa, and heart. Both viruses were detected in all tissues 8 days post-inoculation, and viral excretion through cloaca occurred throughout the entire experimental period. Differences were established in viral titers, with FAdV-11 demonstrating a higher viral load in tissues and cloacal shedding. In addition, both isolates demonstrated to be pathogenic in SPF chicken embryos. Genomic analysis revealed that BRMSA3762 clustered with sequences from other countries in the Americas, showing no evidence of recombination. Surprisingly, BRMSA3761 clustered with sequences isolated in Europe and the Middle East and was identified as a putative recombinant showing a genetic arrangement closely related to Iranian and Lebanese sequences. Collectively, our findings provide important insights into the pathogenicity of Brazilian fowl adenovirus isolates and contribute to the current understanding of their genetic diversity.

#3

International Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG.

United European gastroenterology journal2026 Feb

This international, multidisciplinary consensus report represents the first effort to systematically define and characterize fatty pancreas. A key outcome of this endeavor was the recommendation to adopt "fatty pancreas" as the standardized and inclusive term to describe all forms of fat accumulation in the pancreas. This terminological consensus provides a critical foundation for unified reporting and clinical communication. Another major contribution of the report is the consensus on diagnostic imaging findings, which was based on radiological and endoscopic modalities. The proposed criteria aim to enhance consistency in clinical assessment and support the development of standardized research protocols. In addition to establishing terminology and diagnostic frameworks, the report also synthesizes current knowledge across a wide range of relevant domains. These include the etiology and epidemiology of fatty pancreas, as well as its associations with alcohol consumption, smoking, acute and chronic pancreatitis, pancreatic exocrine insufficiency, type 2 diabetes mellitus, and surgical outcomes. The potential links between fatty pancreas and neoplastic conditions such as intraductal papillary mucinous neoplasms and pancreatic cancer are also addressed, alongside the current understanding of its metabolic implications (beta-cell function and glucose homeostasis) and treatment strategies. Throughout the consensus process, a consistent theme emerged: the limited availability of high-quality, prospective clinical data. Therefore, many of the recommendations in this report are based on expert consensus rather than strong empirical evidence. As such, the statements require rigorous prospective validation before they can be adopted into routine clinical practice. This underscores a critical need for further research, particularly studies aimed at clarifying causal relationships, validating diagnostic tools, and determining the clinical relevance of fatty pancreas across diverse patient populations. This report serves as both a summary of our current understanding and a roadmap for future investigations, aiming to close existing knowledge gaps and guide evidence-based clinical practice in this emerging field.

#4

Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro-Oxidative and Pro-Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction.

Journal of extracellular vesicles2026 Feb

Extracellular vesicles (EV) are emerging regulators of metabolic homeostasis through their bioactive cargo. This study first investigated the lipidomic profile and functional effects of plasma EV derived from adiponectin-knockout (KO) mice to identify EV-associated lipid signatures linked to metabolic dysfunction. Lipidomic profiling revealed that KO EV were enriched in sphingolipids and polyunsaturated phospholipids compared to wild-type (WT) EV. To evaluate functional consequences, recipient cell assays were conducted using macrophages, skeletal muscle cells, and pancreatic beta cells. KO EV showed an increased uptake in RAW 264.7 macrophages and induced elevated reactive oxygen species (ROS) and activation of NF-κB and IRF inflammatory pathways. In L6 skeletal muscle cells, WT EV increased ATP production, while KO EV failed to elicit this effect. Furthermore, KO EV impaired glucose-stimulated insulin secretion in INS-1 pancreatic beta cells. These findings suggested that altered lipid composition in EV from KO mice contributes to oxidative stress, inflammation, and impaired metabolic regulation in recipient cells. Next, translational relevance was established by documenting that plasma EV from patients with metabolic syndrome exhibited lipidomic remodeling features in parallel to the murine KO phenotype, in particular enriched PUFA-containing lipids. Together, these findings identify a conserved adiponectin-EV lipid composition axis regulating oxidative stress, inflammation, and impaired metabolic regulation. The new knowledge presented in this study has implications for biomarker discovery and therapeutic targeting in metabolic disease.

#5

Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.

JGH open : an open access journal of gastroenterology and hepatology2026 Jan

Previous studies have shown an increased prevalence of eosinophilic gastrointestinal disease (EGID) in pediatric liver and heart transplant recipients. However, EGID after other solid organ and bone marrow transplantations has not been extensively evaluated. The purpose of this study is to determine relationships between subsets of EGID with different solid organ and bone marrow transplants in pediatric patients. We performed a single-center retrospective chart review of pediatric patients with transplant and EGID between 2007 and 2023. For comparison between transplant groups, ANOVA was used for statistical analysis of continuous variables, and Fisher's exact test was used for categorical variables. There were 30 patients with EGID (eosinophilic esophagitis [EoE] = 21; eosinophilic gastritis [EoG] = 4; EoE + EoG = 3; EoE + eosinophilic colitis [EoC] = 1; eosinophilic duodenitis [EoD] = 1) and history of transplant (liver = 15; heart = 9; bone marrow = 3; multivisceral liver + small bowel + pancreas = 2; kidney = 1). When comparing the transplant groups, there was a significant difference in EoE + EoG incidence (p = 0.011), specifically, EoE + EoG was present in 2 (100%) multivisceral and in 1/15 (7%) liver transplant patients. A statistically significant difference in the presence of gastroesophageal reflux (GER) and oral allergy syndrome between groups was noted (p = 0.036, p = 0.033). There was no significant difference in the symptoms leading to EGID work-up: incidence; morphologic features; achievement of histologic remission; medications; or family history of atopy between groups. This retrospective biopsy-confirmed cohort demonstrates that EGID subtype varies by transplant type, with higher rates of EoE + EoG in multivisceral recipients. Findings are exploratory and hypothesis-generating; larger multicenter studies including more non-liver and non-heart transplant patients are needed.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences
2026

Pathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.

Poultry science
2026

Redox-Driven Precision Medicine for Life-Course Prevention of Cardiovascular-Kidney-Metabolic Syndrome.

Antioxidants (Basel, Switzerland)
2026

Heart failure with preserved ejection fraction beyond the heart: exploring the heart-liver-pancreas axis.

ESC heart failure
2026

Milky Plasma, Murky Diagnosis: Urgent Plasma Exchange for Severe Hypertriglyceridemia-Induced Hyperviscosity Without Pancreatitis, but With Myocardial Infarction.

Journal of clinical apheresis
2026

Revisiting the Safety of Short-term Systemic Corticosteroids: Safety of short-term systemic corticosteroids.

Biomedical journal
2026

Use of semaglutide after acute coronary syndrome: an exploratory retrospective study.

Journal of cardiovascular medicine (Hagerstown, Md.)
2026

International Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG.

United European gastroenterology journal
2026

Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro-Oxidative and Pro-Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction.

Journal of extracellular vesicles
2026

Targeting GLP1 receptor for reducing global cardiovascular risk.

Journal of translational medicine
2026

Coronary Artery Calcium Score Is Associated with Steatotic Liver Disease, Fatty Pancreas, and Benign Pancreaticobiliary Disorders, Independent of Metabolic Syndrome.

Metabolic syndrome and related disorders
2026

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Molecular genetics and metabolism
2026

Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.

JGH open : an open access journal of gastroenterology and hepatology
2026

Olezarsen reduces all-cause health services utilization and improves the treatment experience of patients with familial chylomicronemia syndrome.

Journal of clinical lipidology
2026

From multiple spleens to absence: Insights from two cases of heterotaxy syndromes.

Radiology case reports
2025

Inflammation-Insulin Resistance Crosstalk and the Central Role of Myokines.

International journal of molecular sciences
2025

Identification of Pancreatic Neuroendocrine Tumor During Evaluation for Severe Valvulopathy in a Patient With a History of Lung Carcinoid Tumor: A Case Report.

Cureus
2026

Highlights of Cardiovascular Disease Prevention Studies Presented at the 2025 American Heart Association Scientific Sessions.

Current atherosclerosis reports
2025

Clinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targeted APOC3 antisense oligonucleotide.

American journal of preventive cardiology
2025

Coronary Artery Calcium Score Is Associated with Acute Pancreatitis Independent of Metabolic Syndrome.

Metabolic syndrome and related disorders
2025

CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.

Acta neuropathologica communications
2025

The Clinical Value of the AST-to-ALT Ratio in Predicting Severity, Complications, and Prognosis in Acute Pancreatitis.

Gastroenterology research and practice
2025

[Effects of electroacupuncture on early enteral nutrition tolerance and autonomic nerve activity in patients with acute pancreatitis].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Neonatal duodenal atresia with heterotopic pancreas: a case report and literature review.

Frontiers in pediatrics
2025

Cholestasis as a complication in Kawasaki disease: an atypical clinical presentation.

European journal of medical research
2026

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome.

Diabetologia
2025

A novel prognostic nomogram for elderly patients with severe fever with thrombocytopenia syndrome.

BMC geriatrics
2025

Anti-apoC-III Therapies and Implications for Treatment of Pancreatitis and Cardiovascular Disease.

Current atherosclerosis reports
2025

Acute Pancreatitis Presenting as Inferior Wall Myocardial Ischaemia: A Case Report.

Cureus
2026

AIMN, ITANET, SIE joint position paper for the recognition, prevention and management of NET carcinoid syndrome and crises during peptide receptor radionuclide therapy.

European journal of nuclear medicine and molecular imaging
2026

Carcinoid Syndrome Impacts Long-Term Outcomes After Hepatectomy for Small Bowel Neuroendocrine Tumor Liver Metastasis.

Annals of surgical oncology
2025

The X-Age Project to construct a Chinese aging clock.

Nature aging
2025

[Identification of an adenocarcinoma in the context of non-infectious paraneoplastic endocarditis].

Revue medicale de Liege
2025

Diagnostic Dilemma of a Neuroendocrine Tumour Complicated by Simultaneous Retroperitoneal Fibrosis and Carcinoid Heart Disease in a Perimenopausal Woman.

Cureus
2025

Exploring the multifaceted roles of GLP-1 receptor agonists; a comprehensive review.

Frontiers in clinical diabetes and healthcare
2025

Rare Case of Acute Pancreatitis Presenting With ST-Segment Elevation.

Journal of investigative medicine high impact case reports
2025

Surgical management of hiatal hernia in a 3-year-old child with asplenia syndrome, congenital heart disease, thoracic scoliosis, and intestinal malrotation: A case report.

International journal of surgery case reports
2025

Non-bacterial thrombotic endocarditis leading to the diagnosis of pancreatic adenocarcinoma.

BMJ case reports
2025

Incretin-based therapy: An update focusing on the major revolution in cardiovascular-kidney-metabolic health.

Journal of the Chinese Medical Association : JCMA
2025

A case of distal bile duct cancer in a patient with polysplenia syndrome and ventral pancreatic malrotation.

Clinical journal of gastroenterology
2025

CARDIAL-MS (CArdio-Renal-DIAbetes-Liver-Metabolic Syndrome): a new proposition for an integrated multisystem metabolic disease.

Diabetology &amp; metabolic syndrome
2025

GLP-1R in diabetes mellitus: from basic discovery to therapeutics development.

Frontiers in pharmacology
2025

Imaging Manifestations of Alcohol Use-associated Disorders and Diseases.

Radiographics : a review publication of the Radiological Society of North America, Inc
2025

Serum Biomarkers in Atlantic Salmon for Differential Diagnosis of Cardiomyopathy Syndrome and Pancreas Disease: Proteomic Identification of Serum Fibrinogen to Enhance Troponin Immunoassay as Optimal Diagnostic Approach.

Journal of fish diseases
2025

Multiorgan Imaging for Interorgan Crosstalk in Cardiometabolic Diseases.

Circulation research
2025

Pathomorphological features of systemic manifestations of severe acute pancreatitis complicated by abdominal compartment syndrome.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2026

Symptom Management for Well-Differentiated Gastroenteropancreatic Neuroendocrine Tumors: ASCO Guideline.

JCO oncology practice
2025

Advances in Metabolomics: A Comprehensive Review of Type 2 Diabetes and Cardiovascular Disease Interactions.

International journal of molecular sciences
2025

Relationship between stress hyperglycaemic ratio (SHR) and critical illness: a systematic review.

Cardiovascular diabetology
2025

Beyond body mass index: exploring the role of visceral adipose tissue in intensive care unit outcomes.

BJA open
2025

The multifaceted role of agents counteracting metabolic syndrome: A new hope for gastrointestinal cancer therapy.

Pharmacology &amp; therapeutics
2025

Concomitant abdominal organ transplantation alongside lung transplantation: An ISHLT transplant database analysis.

JHLT open
2025

Clinical Characteristics and Outcomes of Takotsubo Syndrome Patients with Gastrointestinal Diseases: A Systematic Review.

International journal of cardiology. Heart &amp; vasculature
2025

Familial chylomicronemia syndrome and treatments to target hepatic APOC3 mRNA.

Atherosclerosis
2025

Emerging agents targeting triglycerides.

Current opinion in lipidology
2025

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

Communications biology
2025

Highlights of Cardiovascular Disease Prevention Studies Presented at the 2024 American Heart Association Scientific Sessions.

Current atherosclerosis reports
2025

O-GlcNAcylation attenuates ischemia-reperfusion-induced pulmonary epithelial cell ferroptosis via the Nrf2/G6PDH pathway.

BMC biology
2025

Myocarditis and neutrophil-mediated vascular leakage but not cytokine storm associated with fatal murine leptospirosis.

EBioMedicine
2025

Molecular Therapeutics in Development to Treat Hyperlipoproteinemia.

Molecular diagnosis &amp; therapy
2024

Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study.

Medicina (Kaunas, Lithuania)
2024

Case Report: Catastrophic antiphospholipid syndrome in a pediatric patient after percutaneous treatment of aortic re-coarctation.

Frontiers in pediatrics
2024

Analysis of associated malformations by computed tomography in adults with polysplenia syndrome: A pilot study.

PloS one
2024

Therapeutic endoscopic retrograde cholangiopancreatography in a patient with asplenia-type heterotaxy syndrome: A case report.

World journal of gastrointestinal surgery
2024

Rhabdomyolysis in Severe Fever With Thrombocytopenia Syndrome: Associations With Acute Kidney Injury and Mortality.

Journal of medical virology
2024

Percutaneous Coronary Intervention and Long-Term Management of Acute Myocardial Infarction in a Hemophilia Patient: Overcoming Bleeding Challenges.

Yonsei medical journal
2024

The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.

International journal of molecular sciences
2024

Exploring Carcinoid Syndrome in Neuroendocrine Tumors: Insights from a Multidisciplinary Narrative Review.

Cancers
2024

Heart rate variability in acute pancreatitis: a narrative review.

Translational gastroenterology and hepatology
2025

Diagnosis and Management of Thoracolumbar Spinal Disorders Presenting as Cardiac, Gastrointestinal, and Other False Pain Syndromes.

Clinical spine surgery
2024

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.

Nature communications
2025

Metabolic syndrome is linked to most cancers incidence.

Heart and vessels
2024

Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.

Annals of the American Thoracic Society
2024

Biomarkers to Inform Prognosis and Treatment for Unresectable or Metastatic GEP-NENs.

JAMA oncology
2024

Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
2025

Non-Sugar-Sweetened Beverages and Risk of Chronic Diseases: An Umbrella Review of Meta-analyses of Prospective Cohort Studies.

Nutrition reviews
2024

Insulin Resistance, Obesity, and Lipotoxicity.

Advances in experimental medicine and biology
2025

Beyond weight loss: the potential of glucagon-like peptide-1 receptor agonists for treating heart failure with preserved ejection fraction.

Heart failure reviews
2024

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Arteriosclerosis, thrombosis, and vascular biology
2024

Delayed peak antibody titers after the second dose of SARS-CoV-2 vaccine in solid organ transplant recipients: Prospective cohort study.

Vaccine
2024

Unveiling the multifaceted role of adropin in various diseases (Review).

International journal of molecular medicine
2024

How Similar Are Drug Data and Disease Self-report? Estimating the Prevalence of Chronic Diseases in Less Developed Settings.

Archives of Iranian medicine
2024

CircARCN1 aggravates atherosclerosis by regulating HuR-mediated USP31 mRNA in macrophages.

Cardiovascular research
2024

Physiotherapy to Alleviate Chest Complications in Acute Pancreatitis With Comorbidities: A Rare Case of Young Female.

Cureus
2024

Scorpion-Induced Acute Coronary Syndrome: A Stinging Complication.

Journal of investigative medicine high impact case reports
2024

A case of pancreatoblastoma in a child with Simpson-Golabi-Behmel syndrome: Highlighting the importance of alpha fetoprotein monitoring.

Pediatric blood &amp; cancer
2024

Risk factors and early prediction of cardiorenal syndrome type 3 among acute kidney injury patients: a cohort study.

Renal failure
2024

[Clinical data analysis of 117 patients with ruptured abdominal aortic aneurysm].

Zhonghua nei ke za zhi
2024

Role of biomarkers in antimicrobial stewardship: physicians' perspectives.

The Korean journal of internal medicine
2024

Association of nirmatrelvir-ritonavir with post-acute sequelae and mortality in patients admitted to hospital with COVID-19: a retrospective cohort study.

The Lancet. Infectious diseases
2024

Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome.

The New England journal of medicine
2024

Sedentary lifestyle, physical activity, and gastrointestinal diseases: evidence from mendelian randomization analysis.

EBioMedicine
2024

Asprosin: its function as a novel endocrine factor in metabolic-related diseases.

Journal of endocrinological investigation
2024

Drug target Mendelian randomization supports apolipoprotein C3-lowering for lipoprotein-lipid levels reductions and cardiovascular diseases prevention.

Atherosclerosis
2024

Impact of Delta SARS-CoV-2 Infection on Glucose Metabolism: Insights on Host Metabolism and Virus Crosstalk in a Feline Model.

Viruses
2024

Multimodality Imaging in Metabolic Syndrome: State-of-the-Art Review.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

Impact of Frailty on Short-Term Outcomes of Hepatic Lobectomy in Patients with Intrahepatic Cholangiocarcinoma: Evidence from the US Nationwide Inpatient Sample 2005-2018.

Digestive surgery
2024

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.

Endocrinology, diabetes &amp; metabolism case reports
2024

Repotrectinib in a Patient With NTRK Fusion-Positive Pancreatic Carcinoma and Congenital Long QT Syndrome.

JCO precision oncology
2024

Metabolic syndrome is linked to the incidence of pancreatic cancer.

EClinicalMedicine
2023

In Silico and In Vivo Evaluation of the Maqui Berry (Aristotelia chilensis (Mol.) Stuntz) on Biochemical Parameters and Oxidative Stress Markers in a Metabolic Syndrome Model.

Metabolites
2023

Association of autoimmune pancreatitis with Raghib syndrome.

Clinical case reports
2023

The value of neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, red cell distribution width, and their combination in predicting acute pancreatitis severity.

European review for medical and pharmacological sciences
2023

Case Report: Acute cerebral infarction as the initial manifestation of malignant tumors with trousseau syndrome in the elderly.

Frontiers in oncology
2024

Cancer-related arterial thromboembolic events.

Archives of cardiovascular diseases
2023

Adherence to recommended vaccination policies for pre- and post-solid organ transplantation patients: A national questionnaire survey in Japan.

Vaccine
2023

Association of Cardiovascular Disease and Pancreatitis: What Came First, the Chicken or the Egg?

Journal of clinical medicine
2024

Cardiac complications caused by biliary diseases: A review of clinical manifestations, pathogenesis and treatment strategies of cholecardia syndrome.

Pharmacological research
2023

Prevalence and clinical characteristics of increased pancreatic enzymes in patients with severe fever with thrombocytopenia syndrome.

PLoS neglected tropical diseases
2024

Effects of irisin and exercise on adropin and betatrophin in a new metabolic syndrome model.

Biotechnic &amp; histochemistry : official publication of the Biological Stain Commission
2023

Hemophagocytic Lymphohistiocytosis and Pancreatic Cancer: A Rare Association.

Journal of community hospital internal medicine perspectives
2023

Severe hypertriglyceridemia: Existing and emerging therapies.

Pharmacology &amp; therapeutics
2023

Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database.

Journal of Korean medical science
2023

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

European journal of translational myology
2024

Longitudinal Outcomes Associated With Metabolic Dysfunction-Associated Steatotic Liver Disease: A Meta-analysis of 129 Studies.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2023

Is neuropilin-1 the neuroimmune initiator of multi-system hyperinflammation in COVID-19?

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2023

Metastatic well differentiated serotonin-producing pancreatic neuroendocrine tumor with carcinoid heart disease: a case report.

Journal of gastrointestinal oncology
2023

Influence of intermittent fasting on autophagy in the liver.

Bioscience trends
2023

Construction and validation of machine learning models for sepsis prediction in patients with acute pancreatitis.

BMC surgery
2023

Intercellular cross-talk through lineage-specific gap junction of cancer-associated fibroblasts related to stromal fibrosis and prognosis.

Scientific reports
2023

Urinary 5-Hydroxyindolacetic Acid Measurements in Patients with Neuroendocrine Tumor-Related Carcinoid Syndrome: State of the Art.

Cancers
2023

Insights Into Clinical Outcomes of Acute Pancreatitis With Concomitant Acute Myocardial Infarction Using the National Inpatient Sample Database.

The American journal of cardiology
2023

Epidemiology of small intestinal bacterial overgrowth.

World journal of gastroenterology
2023

Chronic Pancreatitis and Risk of Atherosclerotic Cardiovascular Disease: A US Cohort Propensity-Matched Study.

Pancreas
2023

The Role of Extracellular Heat Shock Proteins in Cardiovascular Diseases.

Biomedicines
2023

[Connotation of distal bleeding based on modern pathophysiological mechanism and application of Huangtu Decoction for acute coronary syndrome complicated with acute upper gastrointestinal hemorrhage in critical care medicine].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2023

Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options.

Metabolites
2023

The critical role of pancreatic stone protein/regenerating protein in sepsis-related multiorgan failure.

Frontiers in medicine
2023

Long-term post-acute sequelae of COVID-19 infection: a retrospective, multi-database cohort study in Hong Kong and the UK.

EClinicalMedicine
2023

QT prolongation, torsades des pointes, and cardiac arrest after 4 mg of IV ondansetron.

The American journal of emergency medicine
2023

Associations of cholecystectomy with the risk of colorectal cancer: a Mendelian randomization study.

Chinese medical journal
2023

[Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2023

Diagnosis and management of neuroendocrine tumours.

Clinical medicine (London, England)
2023

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Nature medicine
2023

Targeting Epigenetic Changes Mediated by Members of the SMYD Family of Lysine Methyltransferases.

Molecules (Basel, Switzerland)
2023

Gastrointestinal Consequences of Type 2 Diabetes Mellitus and Impaired Glycemic Homeostasis: A Mendelian Randomization Study.

Diabetes care
2023

No evidence for the benefit of PPIs in the treatment of acute pancreatitis: a systematic review and meta-analysis.

Scientific reports
2023

C-terminal agrin fragment as a biomarker of muscle wasting and weakness: a narrative review.

Journal of cachexia, sarcopenia and muscle
2021

Case Report: COVID-19 with cytokine storm in a 16-year-old patient: if heart failures comes think about levosimendan.

F1000Research
2023

Association of obesity and cardiovascular disease and progress in pharmacotherapy: what is next for obesity?

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation
2023

Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.

eLife
2022

The effect of anemia on the severity and prognosis of patients with acute pancreatitis: A single-center retrospective study.

Medicine
2023

Acute Pancreatitis and Myocardial Infarction: A Narrative Review.

Cardiology
2022

The relationship between chronic immune response and neurodegenerative damage in long COVID-19.

Frontiers in immunology
2022

Polysplenia syndrome revealed in adulthood by pancreatic and vascular malformations: a case report.

The Pan African medical journal
2022

Anti-Inflammatory Activation of Phellodendri Chinensis Cortex is Mediated by Berberine Erythrocytes Self-Assembly Targeted Delivery System.

Drug design, development and therapy
2022

HETEROTAXY SYNDROME IN COVID-19 PATIENT WITH PULMONARY EMBOLISM AND AORTIC ANEURYSM: A RARE ACCIDENTAL COMBINATION (RADIOLOGICAL ASSESSMENT).

Problemy radiatsiinoi medytsyny ta radiobiolohii
2022

Potential use of the S-protein-Angiotensin converting enzyme 2 binding pathway in the treatment of coronavirus disease 2019.

Frontiers in public health
2023

Recent Developments in Islet Biology: A Review With Patient Perspectives.

Canadian journal of diabetes
2023

[Hypertriglyceridemic pancreatitis and cardiac tamponade in a 26-year-old woman].

Innere Medizin (Heidelberg, Germany)
2022

Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report.

BMC cardiovascular disorders
2022

Novel Classification of Thrombotic Disorders Based on Molecular Hemostasis and Thrombogenesis Producing Primary and Secondary Phenotypes of Thrombosis.

Biomedicines
2022

The combination of ulinastatin and somatostatin reduces complication rates in acute pancreatitis: a systematic review and meta-analysis of randomized controlled trials.

Scientific reports
2022

Ferroptosis and its emerging roles in acute pancreatitis.

Chinese medical journal
2022

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Orphanet journal of rare diseases
2022

Pancreatic cancer with multiple liver metastasis complicating multi-organ infarcts from marantic endocarditis and Trousseau's syndrome.

Clinical medicine (London, England)
2022

A Case of Primary Insular Ovarian Carcinoid Tumor with Hyperandrogenism and Carcinoid Heart Disease.

The American journal of case reports
2022

Effectiveness and safety of fibrinolytic therapy in critically ill patients with COVID-19 with ARDS: protocol for a prospective meta-analysis.

BMJ open
2022

AMPK: The key to ischemia-reperfusion injury.

Journal of cellular physiology
2022

Interaction between Sars-CoV-2 structural proteins and host cellular receptors: From basic mechanisms to clinical perspectives.

Advances in protein chemistry and structural biology
2023

A randomized, double-blind, crossover study of the effect of the fluoroquinolone moxifloxacin on glucose levels and insulin sensitivity in young men and women.

Diabetes, obesity &amp; metabolism
2022

SepsEast Registry indicates high mortality associated with COVID-19 caused acute respiratory failure in Central-Eastern European intensive care units.

Scientific reports
2022

Heart Failure and Pancreas Exocrine Insufficiency: Pathophysiological Mechanisms and Clinical Point of View.

Journal of clinical medicine
2022

Changes in the Incidence Rates of Gastrointestinal Diseases Due to the COVID-19 Pandemic in South Korea: A Long-Term Perspective.

Journal of personalized medicine
2022

Organ-Specific Glucose Uptake: Does Sex Matter?

Cells
2022

Appraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.

EBioMedicine
2022

Case report: hypoglycemia secondary to methimazole-induced insulin autoimmune syndrome in young Taiwanese woman with Graves' disease.

Medicine
2022

B cell-derived cfDNA after primary BNT162b2 mRNA vaccination anticipates memory B cells and SARS-CoV-2 neutralizing antibodies.

Med (New York, N.Y.)
2022

New-onset COVID-19-related diabetes: an early indicator of multi-organ injury and mortally of SARS-CoV-2 infection.

Current medicine (Cham, Switzerland)
2022

Development and external validation of models to predict acute respiratory distress syndrome related to severe acute pancreatitis.

World journal of gastroenterology
2022

Islet Biology During COVID-19: Progress and Perspectives.

Canadian journal of diabetes
2022

Mitral valvuloplasty with left atrial appendage closure and pacemaker implantation in a dog with severe myxomatous mitral valve degeneration: a case report.

BMC veterinary research
2022

Paracrine Role of the Endothelium in Metabolic Homeostasis in Health and Nutrient Excess.

Frontiers in cardiovascular medicine
2022

Immature granulocytes: Innovative biomarker for SARS‑CoV‑2 infection.

Molecular medicine reports
2022

Effect of red beetroot juice on oxidative status and islet insulin release in adult male rats.

Diabetology &amp; metabolic syndrome
2022

Acute Neurological Manifestations of COVID-19 Patients From Three Tertiary Care Hospitals in Qatar.

Cureus
2022

Pancreaticoduodenectomy in a Patient With Marfan Syndrome.

Pancreas
2022

Understanding the molecular basis of anorexia and tissue wasting in cancer cachexia.

Experimental &amp; molecular medicine
2022

Solid Organ Transplantation in SARS-CoV-2 Recovered Transplant Candidates: a Comprehensive Review of Recent Literature.

Current transplantation reports
2022

Worsening Postural Tachycardia Syndrome Is Associated With Increased Glucose-Dependent Insulinotropic Polypeptide Secretion.

Hypertension (Dallas, Tex. : 1979)
2022

Adenocarcinoma of the Gastroesophageal Junction Masquerading as Mallory-Weiss Syndrome.

Case reports in gastroenterology
2022

Protein expression of transmembrane protease serine 4 in the gastrointestinal tract and in healthy, cancer, and SARS‑CoV‑2 infected lungs.

Molecular medicine reports
2022

Elevation in creatine kinase isoenzyme-MM associated with hepatocellular carcinoma: a case report and review of literature.

Clinical journal of gastroenterology
2022

Lipoprotein profile of pleural and peritoneal transudates in dogs and cats.

Journal of veterinary internal medicine
2022

Is NMDA-Receptor-Mediated Oxidative Stress in Mitochondria of Peripheral Tissues the Essential Factor in the Pathogenesis of Hepatic Encephalopathy?

Journal of clinical medicine
2021

Physiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.

Advances in experimental medicine and biology
2022

Clinical and genetic features of four patients with Pearson syndrome: An observational study.

Medicine
2022

Cholangitis secondary to obstructive choledocholithiases in an elderly woman with heterotaxy syndrome with polysplenia: report of a case and brief review of the literature.

Clinical journal of gastroenterology
2022

GLP-1a: Going beyond Traditional Use.

International journal of molecular sciences
2022

Solid Organ Transplantation From SARS-CoV-2-infected Donors to Uninfected Recipients: A Single-center Experience.

Transplantation direct
2021

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Frontiers in endocrinology
2022

Multiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
2022

Multimodality imaging of developmental splenic anomalies: tips and pitfalls.

Clinical radiology
2022

Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.

Acta physiologica (Oxford, England)
2022

Postmortem findings in COVID-19 fatalities: A systematic review of current evidence.

Legal medicine (Tokyo, Japan)
2021

Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.

Journal of clinical lipidology
2021

Verification of the Impact of Blood Glucose Level on Liver Carcinogenesis and the Efficacy of a Dietary Intervention in a Spontaneous Metabolic Syndrome Model.

International journal of molecular sciences
2021

Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.

Molecular genetics and metabolism
2022

LECT-2 amyloidosis: what do we know?

Journal of investigative medicine : the official publication of the American Federation for Clinical Research

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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. MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
    Science China. Life sciences· 2026· PMID 41854965mais citado
  2. Pathogenicity and genomic characterization of Brazilian fowl adenovirus serotypes 1 and 11.
    Poultry science· 2026· PMID 41759469mais citado
  3. International Multidisciplinary Consensus Report on Definitions, Diagnostic Criteria, and Management of Fatty Pancreas: A Joint Statement Endorsed by EPC, APA, EASD, EASL, ESGAR, ESGE, ESP, ESPCG, ESPEN, ESPGHAN, IAP, JPS, KPBA, LAPSG, and UEG.
    United European gastroenterology journal· 2026· PMID 41689768mais citado
  4. Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro-Oxidative and Pro-Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction.
    Journal of extracellular vesicles· 2026· PMID 41656969mais citado
  5. Eosinophilic Gastrointestinal Disease After Pediatric Organ and Bone Marrow Transplantation.
    JGH open : an open access journal of gastroenterology and hepatology· 2026· PMID 41602586mais citado
  6. Complications of lipodystrophy syndromes.
    Presse Med· 2021· PMID 34728268recente
  7. Differential diagnosis of the association of gastrointestinal symptoms and ST segment elevation, in the absence of chest pain.
    Am J Emerg Med· 2021· PMID 34111833recente
  8. Development of a severe mesenteric traction syndrome during major abdominal surgery is associated with increased postoperative morbidity: Secondary data analysis on prospective cohorts.
    Langenbecks Arch Surg· 2020· PMID 31820096recente
  9. Disease Associated Mutations in K(IR) Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.
    Biomolecules· 2019· PMID 31731488recente
  10. Clinical Outcome of Extraanatomic Bypass for Midaortic Syndrome Caused by Takayasu Arteritis.
    Ann Thorac Surg· 2020· PMID 31557481recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2255(Orphanet)
  2. OMIM OMIM:600001(OMIM)
  3. MONDO:0010802(MONDO)
  4. GARD:347(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q11902953(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 hipoplasia pancreática-diabetes-cardiopatia congênita
Compêndio · Raras BR

Síndrome de hipoplasia pancreática-diabetes-cardiopatia congênita

ORPHA:2255 · MONDO:0010802
Prevalência
<1 / 1 000 000
Casos
10 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1838780
Wikidata
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