Raras
Buscar doenças, sintomas, genes...
Hipoalfalipoproteinemia
ORPHA:31153CID-10 · E78.6CID-11 · 5C81.0DOENÇA RARA

Distúrbio metabólico caracterizado pela deficiência de lipoproteína de alta densidade (alfa) no sangue.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Distúrbio metabólico caracterizado pela deficiência de lipoproteína de alta densidade (alfa) no sangue.

Publicações científicas
369 artigos
Último publicado: 2026 Apr 1
Medicamentos
17 registrados
DESLORATADINE, AMLODIPINE BESYLATE, LEVOCETIRIZINE DIHYDROCHLORIDE

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17 medicamentos registrados
Ver detalhes, fases e interações →
DESLORATADINEAMLODIPINE BESYLATELEVOCETIRIZINE DIHYDROCHLORIDELEVOCETIRIZINEMETOPROLOLAMLODIPINEPANTOPRAZOLEBENAZEPRIL HYDROCHLORIDEQUETIAPINE FUMARATEPANTOPRAZOLE SODIUM
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E78.6
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🩸
Sangue
6 sintomas
🫘
Rins
5 sintomas
🫃
Digestivo
4 sintomas
👁️
Olhos
4 sintomas
😀
Face
3 sintomas
❤️
Coração
3 sintomas

+ 22 sintomas em outras categorias

Características mais comuns

Dor abdominal
Linfadenopatia crônica não infecciosa
Aterosclerose acelerada
Fraqueza muscular distal
Esplenomegalia
Aterosclerose
54sintomas
Sem dados (54)

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

Dor abdominalAbdominal pain
Linfadenopatia crônica não infecciosaChronic noninfectious lymphadenopathy
Aterosclerose aceleradaAccelerated atherosclerosis
Fraqueza muscular distalDistal muscle weakness
EsplenomegaliaSplenomegaly

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico369PubMed
Últimos 10 anos96publicações
Pico202515 papers
Linha do tempo
2026Hoje · 2026🧪 1976Primeiro ensaio clínico📈 2025Ano 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

2 genes identificados com associação a esta condição.

LCATPhosphatidylcholine-sterol acyltransferaseDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
HDL remodeling
MECANISMO DE DOENÇA

Lecithin-cholesterol acyltransferase deficiency

A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
117.3 TPM
Cerebelo
88.0 TPM
Tireoide
74.1 TPM
Nervo tibial
68.3 TPM
Cervix Endocervix
63.3 TPM
OUTRAS DOENÇAS (2)
fish eye diseaseNorum disease
HGNC:6522UniProt:P04180
ABCA1Phospholipid-transporting ATPase ABCA1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to apolipoproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apolipoproteins

LOCALIZAÇÃO

Cell membraneEndosome

VIAS BIOLÓGICAS (2)
PPARA activates gene expressionNR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
MECANISMO DE DOENÇA

Tangier disease

An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy.

OUTRAS DOENÇAS (2)
hypoalphalipoproteinemia, primary, 1Tangier disease
HGNC:29UniProt:O95477

Medicamentos e terapias

DESLORATADINEPhase 1

Mecanismo: Histamine H1 receptor antagonist

AMLODIPINE BESYLATEPhase 1

Mecanismo: Voltage-gated L-type calcium channel blocker

LEVOCETIRIZINE DIHYDROCHLORIDEPhase 1

Mecanismo: Histamine H1 receptor antagonist

LEVOCETIRIZINEPhase 1

Mecanismo: Histamine H1 receptor antagonist

METOPROLOLPhase 1

Mecanismo: Beta-1 adrenergic receptor antagonist

AMLODIPINEPhase 1

Mecanismo: Voltage-gated L-type calcium channel blocker

PANTOPRAZOLEPhase 1

Mecanismo: Potassium-transporting ATPase inhibitor

BENAZEPRIL HYDROCHLORIDEPhase 1

Mecanismo: Angiotensin-converting enzyme inhibitor

QUETIAPINE FUMARATEPhase 1

Mecanismo: Serotonin 2a (5-HT2a) receptor antagonist

PANTOPRAZOLE SODIUMPhase 1

Mecanismo: Potassium-transporting ATPase inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

275 variantes patogênicas registradas no ClinVar.

🧬 LCAT: NM_000229.2(LCAT):c.949_950del (p.Met317fs) ()
🧬 LCAT: GRCh37/hg19 16q22.1(chr16:67538639-69583342)x1 ()
🧬 LCAT: NM_000229.2(LCAT):c.1159C>T (p.Gln387Ter) ()
🧬 LCAT: GRCh37/hg19 16q22.1(chr16:67322830-69368947)x1 ()
🧬 LCAT: GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 353 variantes classificadas pelo ClinVar.

53
282
18
Patogênica (15.0%)
VUS (79.9%)
Benigna (5.1%)
VARIANTES MAIS SIGNIFICATIVAS
ABCA1: NM_005502.4(ABCA1):c.5383-2A>T [Likely pathogenic]
ABCA1: NM_005502.4(ABCA1):c.2745_2754del (p.Val916fs) [Likely pathogenic]
APOA1: NM_000039.3(APOA1):c.478G>T (p.Glu160Ter) [Pathogenic]
APOA1: NM_000039.3(APOA1):c.-21+22G>A [Uncertain significance]
APOA1: NM_000039.3(APOA1):c.20C>A (p.Thr7Asn) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 31
1Fase 110
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Hipoalfalipoproteinemia

🗺️

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

78 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
99 papers (10 anos)
#1

Exercise training for the management of dyslipidaemia. A position statement from Exercise and Sports Science Australia (ESSA).

Journal of science and medicine in sport2025 Nov 11

This position stand will aim to summarise the effect of different lipid markers on cardiovascular disease (CVD) progression; determine the exercise prescription (ExRx) to optimise favourable lipid profile changes; ascertain if an optimal exercise prescription exists for different types of dyslipidaemias; and provide recommendations for ExRx for dyslipidaemia. Synthesis of published literature on exercise training and lipid profiles. Total cholesterol (TC), high density lipoprotein (HDL-C), low density lipoprotein (LDL-C), triglycerides (TG) and very low density lipoprotein (VLDL-C) respond favourably to exercise training, but the effect sizes are moderate compared to lipid lowering medication (LLM). Apolipoproteins respond favourably to exercise training, but less evidence currently exists. A combination (CT) of aerobic (AT) and resistance (RT) training is optimal to improve lipid profile. For dyslipidaemia and hyperlipidaemia, one should consider greater emphasis on AT, whilst for hypoalphalipoproteinemia RT may be prioritised. Lipid changes observed with exercise are modest but offer a valuable complement to dietary therapy and may delay onset or reduce initial dose of dyslipidaemia medication in people treated for primary CVD prevention. Each extra week of exercise training appears to induce a -0.5 mg/dl reduction in TC. Session time, exercise intensity and frequency should be increased in this order for programme progression. Lipids and apolipoproteins respond favourably to exercise training and the effect size is moderate. Both AT and CT improved all lipids, only HDL was improved with RT, so CT appears optimal. It appears that greater exercise programme volume, defined primarily by longer session (minutes) and programme (weeks) times, and hence cardiorespiratory fitness, seems to lead to further improvements in lipid profile.

#2

Association between indoor air pollution exposure and dyslipidemia among Chinese adults: The role of leisure-time physical activity.

Ecotoxicology and environmental safety2025 Oct 15

Dyslipidemia, a major factor for cardiovascular diseases, has been linked to air pollution exposure. However, evidence on the association between indoor air pollution (IAP) from solid fuel use and dyslipidemia remains limited, as does the potential mitigating role of leisure-time physical activity (LTPA). This cross-sectional study analyzed data from 69,680 adults in the China Multi-Ethnic Cohort (CMEC). IAP exposure was assessed based on self-reported solid fuel use for cooking and heating. Dyslipidemia was defined using blood lipid measurements. LTPA was quantified in metabolic equivalent task-hours per week (MET-h/week). Multivariable logistic regression and interaction analyses were conducted to evaluate associations and synergistic effects. Each 10 MET-h/day increase in LTPA was associated with a 9 % reduction in the prevalence of high non-HDL-C (OR = 0.91, 95 % CI: 0.84-0.98) and a 13 % reduction in hypertriglyceridemia (OR = 0.87, 95 % CI: 0.82-0.92). Solid fuel use for cooking was significantly associated with an increased prevalence of hypertriglyceridemia (OR = 1.14, 95 % CI: 1.09-1.20) and hyperbetalipoproteinemia (OR = 1.20, 95 % CI: 1.13-1.28), while, solid fuel use for heating was linked to higher prevalence of hypertriglyceridemia (OR = 1.34, 95 % CI: 1.27-1.42) and hypoalphalipoproteinemia (OR = 1.13, 95 % CI: 1.05-1.21). LTPA attenuated these associations, with significant multiplicative and additive-scale interactions observed (e.g., for heating fuel use and LTPA on dyslipidemia: P-interaction < 0.05, RERI = 0.18, 95 % CI: 0.08-0.27). Participants using solid fuels and engaging in low LTPA had the highest prevalence of dyslipidemia. Moreover, subgroup analyses confirmed stronger adverse effects of IAP in low-LTPA individuals. Household solid fuel use is associated with dyslipidemia, particularly hypertriglyceridemia and hyperbetalipoproteinemia. LTPA may mitigate these associations, highlighting the dual importance of clean energy adoption and physical activity (PA) promotion in reducing dyslipidemia burden. Public health strategies should target high- populations, such as rural communities with limited access to clean fuels.

#3

Global prevalence of dyslipidemias in the general adult population: a systematic review and meta-analysis.

Journal of health, population, and nutrition2025 Aug 26

Global regional variations in dyslipidemia prevalence underscore the need for an updated global overview of the magnitude of dyslipidemia over time. To estimate the global prevalence of dyslipidemia in adults, considering scientific evidence published in the last 20 years, while analyzing associated sociodemographic and geographic factors. A systematic review and meta-analysis were conducted following PRISMA guidelines. The bibliographic search was performed in PubMed, SCOPUS, Web of Science, and EMBASE, including observational studies published between 2000 and 2025 that reported the prevalence of dyslipidemia components in general adult populations, including hypertriglyceridemia, hypercholesterolemia, hypoalphalipoproteinemia or low high-density lipoprotein cholesterol (HDL-C) levels (< 40 mg/dL for men and < 50 mg/dL for women), and elevated low-density lipoprotein cholesterol (LDL-C). Statistical analyses included meta-analysis with random effects models, stratified analyses by sex and country, and meta-regression by publication year. A total of 206 studies were included, primarily cross-sectional (98.5%). The global prevalence was 28.8% for hypertriglyceridemia, 24.1% for hypercholesterolemia, 38.4% for low HDL-C, and 18.93% for high LDL-C. Men presented a higher prevalence of hypertriglyceridemia (33.8% vs. 24.5% in women), while women showed a higher frequency of low HDL-C (40.5% vs. 34.1% in men). The highest prevalences of low HDL-C and mixed dyslipidemia patterns were observed in the Middle East and Latin America. Temporal trends revealed a progressive increase in hypertriglyceridemia and low HDL-C, with a decrease in hypercholesterolemia and high LDL-C. There is an epidemiological transition in the dyslipidemia profile, from classic hypercholesterolemia toward a predominance of hypertriglyceridemia and low HDL-C, with important differences by sex and region. These findings significantly affect cardiovascular prevention and health policies addressing residual risk beyond LDL-C control.

#4

Metabolic Syndrome Prevalence and Its Components in Adolescents from Western Mexico.

Pediatric reports2025 Aug 08

To evaluate the predictive risk factors associated with the prevalence of metabolic syndrome (MetS) in adolescents from the western region of Mexico. An analytical cross-sectional study was conducted with a sample of 516 adolescents. Anthropometric data, blood pressure, and biochemical determinations were obtained. The diagnosis of MetS was based on the criteria proposed by de Ferranti in 2004. The triglyceride-glucose index (TyG index) was calculated, where a value >4.68 indicates insulin resistance (IR). Risk factors associated with MetS were evaluated using a logistic regression model. The statistical analysis was performed with the level of statistical significance established was p < 0.05. The MetS prevalence was 17.2% among adolescents. One out of every two adolescents with obesity presented with MetS. Abdominal obesity and dyslipidemia are the most common components. Predictors of MetS included male sex, early adolescence, waist-to-height ratio (WHtR) > 0.5, increased body fat percentage, and TyG Index > 4.68 (IR). In the sex-specific analysis, a WHtR > 0.5 and IR were associated with MetS in female adolescents. In male adolescents, IR and body fat percentage were associated with MetS. The WHtR was associated with IR, and hypertriglyceridemia was associated with elevated alanine aminotransferase. In this study, two out of ten adolescents presented with MetS. In boys, a high prevalence of abdominal obesity, hypoalphalipoproteinemia, insulin resistance and MetS was observed. The risk of developing MetS is greater in preadolescent boys with abdominal obesity, high levels of body fat, and a TyG index > 4.68.

#5

Changes in physical activity before and after the diagnosis of dyslipidemia and the risk of atrial fibrillation: a population-based study in South Korea.

Preventive medicine reports2025 Sep

While physical activity is known to influence atrial fibrillation risk in the general population, evidence is limited among patients newly diagnosed with dyslipidemia. This study aimed to evaluate the association between changes in physical activity before and after dyslipidemia diagnosis and atrial fibrillation risk. Using the Korean National Health Insurance Service database, we identified 441,509 Korean adults newly diagnosed with dyslipidemia between 2011 and 2015, free of atrial fibrillation at baseline and with complete data. Metabolic equivalent tasks (METs)-min/week were calculated before and after dyslipidemia diagnosis. Participants were followed up until atrial fibrillation, death, or December 31, 2021. During 3,164,996 person-years of follow-up, 6003 patients developed atrial fibrillation. Increasing physical activity from inactive to ≥1000 MET-min/week was associated with reduced atrial fibrillation risk (adjusted hazard ratio [aHR], 0.85; 95 % confidence interval [CI], 0.81-0.90), compared with inactive. Conversely, decreasing physical activity from ≥1000 MET-min/week to inactive was associated with increased atrial fibrillation risk (aHR, 1.23; 95 % CI, 1.15-1.31). These results were consistent regardless of statin use, hypoalphalipoproteinemia, and hyperlipidemia status. Encouraging newly diagnosed dyslipidemia patients to increase their physical activity levels may help reduce their risk of atrial fibrillation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC104 artigos no totalmostrando 96

2025

Exercise training for the management of dyslipidaemia. A position statement from Exercise and Sports Science Australia (ESSA).

Journal of science and medicine in sport
2025

Association between indoor air pollution exposure and dyslipidemia among Chinese adults: The role of leisure-time physical activity.

Ecotoxicology and environmental safety
2025

Global prevalence of dyslipidemias in the general adult population: a systematic review and meta-analysis.

Journal of health, population, and nutrition
2025

Metabolic Syndrome Prevalence and Its Components in Adolescents from Western Mexico.

Pediatric reports
2025

Changes in physical activity before and after the diagnosis of dyslipidemia and the risk of atrial fibrillation: a population-based study in South Korea.

Preventive medicine reports
2025

The overlooked role of high-density lipoprotein in adrenal stress adaptation: the HDL/SCARB1 axis as a regulator of stress-induced steroidogenesis.

Current opinion in endocrinology, diabetes, and obesity
2025

Residential Greenness and the Incidence of Dyslipidemia in Chinese Adults: A Large Prospective Cohort Study.

Environment &amp; health (Washington, D.C.)
2025

Spectrum and Correlates of Dyslipidemia in People Living with HIV on Dolutegravir-Based Regimen Attending Kabutare Hospital, Southern Rwanda: A Cross-Sectional Study.

HIV/AIDS (Auckland, N.Z.)
2025

Sex differences in the prevalence and profile of metabolic syndrome: results of a screening program from Western Mexico in self-appointed healthy adults.

Endokrynologia Polska
2025

The nonlinear association between temperature anomaly and serum lipid profiles: A nationwide longitudinal panel study.

Environmental research
2025

Cardiometabolic Risk in Chronic Spinal Cord Injury: A Systematic Review with Meta-Analysis and Temporal and Geographical Trends.

Journal of clinical medicine
2025

Deciphering the association of cholesteryl ester transfer protein (CETP) gene polymorphisms with high-density lipoprotein cholesterol (HDL-c) levels in the Bangladeshi population.

Biochemistry and biophysics reports
2025

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Nutrients
2025

A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.

Journal of clinical lipidology
2025

Positive correlation between n- 6 : n- 3 PUFA ratio intake with serum oxHDL/HDL-c ratio in patients with coronary artery disease.

Coronary artery disease
2024

Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

JACC. Case reports
2024

Glycemic Control and Cardiometabolic Risk in Black Zimbabweans with Type 2 Diabetes Mellitus.

Diabetes, metabolic syndrome and obesity : targets and therapy
2024

Longitudinal analysis of clinical and laboratory biomarkers in a patient with familial lecithin: cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: A case study.

Journal of clinical lipidology
2024

Improvement of metabolic syndrome and its components in patients who underwent transsphenoidal resection for pituitary adenoma.

Acta neurochirurgica
2024

Interleukin 6 polymorphisms are associated with cardiovascular risk factors in premature coronary artery disease patients and healthy controls of the GEA Mexican study.

Experimental and molecular pathology
2023

A decreased level of high-density lipoprotein is a possible risk factor for type 2 diabetes mellitus: A review.

Health science reports
2023

Microarray analysis identifies human apoA-IMilano and apoA-II as determinants of the liver gene expression related to lipid and energy metabolism.

Experimental cell research
2024

Increased carotid intima-media thickness and cardiometabolic risk factors are associated with IL-6 gene polymorphisms in Mexican individuals: The Genetics of Atherosclerotic Disease Mexican study.

Biomolecules &amp; biomedicine
2023

A machine learning approach to personalized predictors of dyslipidemia: a cohort study.

Frontiers in public health
2022

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Frontiers in genetics
2023

Prevalencia de glucosa alterada en ayuno y dislipidemia entre pacientes mexicanos con VIH naïve a tratamiento antirretroviral.

Cirugia y cirujanos
2023

Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c Levels in Mexican Adults.

Nutrients
2023

Very low HDL levels: clinical assessment and management.

Archives of endocrinology and metabolism
2022

[An abnormal lipid profile: when to perform additional research for a genetic cause?].

Nederlands tijdschrift voor geneeskunde
2022

Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International journal of molecular sciences
2023

Association of Urinary Zinc Concentrations with Dyslipidemia and Its Subtypes: Baseline Data from the Chinese Multi-Ethnic Cohort (CMEC) Study.

Biological trace element research
2022

Differential distribution of gene polymorphisms associated with hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia among Native American and Mestizo Mexicans.

World journal of hepatology
2022

Association of the rs17574 DPP4 Polymorphism with Premature Coronary Artery Disease in Diabetic Patients: Results from the Cohort of the GEA Mexican Study.

Diagnostics (Basel, Switzerland)
2022

Associations of typical antibiotic residues with elderly blood lipids and dyslipidemia in West Anhui, China.

Ecotoxicology and environmental safety
2022

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal of lipid research
2023

Beneficial effects of fish and fish peptides on main metabolic syndrome associated risk factors: Diabetes, obesity and lipemia.

Critical reviews in food science and nutrition
2021

Food Consumption and Metabolic Risks in Young University Students.

International journal of environmental research and public health
2021

Lipid and Lipoprotein Profile in HIV-Infected and Non-Infected Diabetic Patients: A Comparative Cross-Sectional Study Design, Southwest Ethiopia.

HIV/AIDS (Auckland, N.Z.)
2021

Identification of the RORα Transcriptional Network Contributes to the Search for Therapeutic Targets in Atherosclerosis.

Biological &amp; pharmaceutical bulletin
2021

Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.

Pharmacology research &amp; perspectives
2021

The rs12617336 and rs17574 Dipeptidyl Peptidase-4 Polymorphisms Are Associated With Hypoalphalipoproteinemia and Dipeptidyl Peptidase-4 Serum Levels: A Case-Control Study of the Genetics of Atherosclerotic Disease (GEA) Cohort.

Frontiers in genetics
2021

Interferon Regulatory Factor 5 (IRF5) Gene Haplotypes Are Associated with Premature Coronary Artery Disease. Association of the IRF5 Polymorphisms with Cardiometabolic Parameters. The Genetics of Atherosclerotic Disease (GEA) Mexican Study.

Biomolecules
2021

Cardiometabolic Factors in Pediatric Patients with Chronic Diseases.

Archives of medical research
2021

Polygenic scores for dyslipidemia: the emerging genomic model of plasma lipoprotein trait inheritance.

Current opinion in lipidology
2020

No benefit of HDL mimetic CER-001 on carotid atherosclerosis in patients with genetically determined very low HDL levels.

Atherosclerosis
2020

Epstein-Barr virus-induced gene 3 (EBI3) single nucleotide polymorphisms and their association with central obesity and risk factors for cardiovascular disease: The GEA study.

Cytokine
2020

Rare Diseases Related with Lipoprotein Metabolism.

Advances in experimental medicine and biology
2020

Associations between residential greenness and blood lipids in Chinese Uyghur adults.

Environment international
2020

Dyslipidemia prevalence, awareness, treatment and control in Mexico: results of the Ensanut 2012.

Salud publica de Mexico
2020

Is long-term PM1 exposure associated with blood lipids and dyslipidemias in a Chinese rural population?

Environment international
2020

LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

Atherosclerosis
2020

R230C but not - 565C/T variant of the ABCA1 gene is associated with type 2 diabetes in Mexicans through an effect on lowering HDL-cholesterol levels.

Journal of endocrinological investigation
2020

Long-term effects of ambient air pollutants to blood lipids and dyslipidemias in a Chinese rural population.

Environmental pollution (Barking, Essex : 1987)
2020

Epidemiology and prevalence of hyperuricemia among men and women in Chinese rural population: The Henan Rural Cohort Study.

Modern rheumatology
2019

Is Hyperuricemia, an Early-Onset Metabolic Disorder, Causally Associated with Cardiovascular Disease Events in Han Chinese?

Journal of clinical medicine
2019

The rs2066808 Polymorphism Located Near the IL-23A Gene Is Associated with Premature Coronary Artery Disease in Mexican Population (GEA Study).

DNA and cell biology
2019

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Lipids in health and disease
2020

Selective Correction of Genotype Yield by Probucol in HDL-Deficient Mice Propagation.

Journal of atherosclerosis and thrombosis
2019

Paraoxonase-1 activities in individuals with different HDL circulating levels: Implication in reverse cholesterol transport and early vascular damage.

Atherosclerosis
2019

HIV disease, metabolic dysfunction and atherosclerosis: A three year prospective study.

PloS one
2018

Association between chronic hepatitis B infection and metabolic syndrome.

Journal of diabetes and metabolic disorders
2019

Progress in finding pathogenic DNA copy number variations in dyslipidemia.

Current opinion in lipidology
2018

Raet1e Polymorphisms Are Associated with Increased Risk of Developing Premature Coronary Artery Disease and with Some Cardiometabolic Parameters: The GEA Mexican Study.

Mediators of inflammation
2018

Relation of High-Density Lipoprotein Charge Heterogeneity, Cholesterol Efflux Capacity, and the Expression of High-Density Lipoprotein-Related Genes in Mononuclear Cells to the HDL-Cholesterol Level.

Lipids
2018

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

Journal of clinical lipidology
2018

Hypoalphalipoproteinemia and BRAFV600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.

Arteriosclerosis, thrombosis, and vascular biology
2018

High density lipoprotein cholesterol and cancer: Marker or causative?

Progress in lipid research
2018

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Journal of lipid research
2018

A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia.

Journal of clinical lipidology
2018

Hepatic Overexpression of Endothelial Lipase Lowers High-Density Lipoprotein but Maintains Reverse Cholesterol Transport in Mice: Role of Scavenger Receptor Class B Type I/ATP-Binding Cassette Transporter A1-Dependent Pathways.

Arteriosclerosis, thrombosis, and vascular biology
2018

[Association of leptin with cardiometabolic factors in schoolchildren and adolescents with congenital adrenal hyperplasia].

Gaceta medica de Mexico
2018

Lipidomics Analysis of Behavioral Variant Frontotemporal Dementia: A Scope for Biomarker Development.

Frontiers in neurology
2018

Association between cardiorespiratory fitness and metabolic risk factors in a population with mild to severe obesity.

BMC obesity
2018

ATP-binding cassette transporter A1: A promising therapy target for prostate cancer.

Molecular and clinical oncology
2017

The association between serum 25-hydroxyvitamin D3 concentration and serum lipids in the rural population of China.

Lipids in health and disease
2017

Structural determinants in ApoA-I amyloidogenic variants explain improved cholesterol metabolism despite low HDL levels.

Biochimica et biophysica acta. Molecular basis of disease
2017

Heritability, parental transmission and environment correlation of pediatric-onset type 2 diabetes mellitus and metabolic syndrome-related traits.

Diabetes research and clinical practice
2017

Association of ATP-Binding Cassette Transporter A1 (ABCA1)-565 C/T Gene Polymorphism with Hypoalphalipoproteinemia and Serum Lipids, IL-6 and CRP Levels.

Avicenna journal of medical biotechnology
2016

Nutrition, insulin resistance and dysfunctional adipose tissue determine the different components of metabolic syndrome.

World journal of diabetes
2016

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Frontiers in neurology
2017

Small HDL subclasses become cholesterol-poor during postprandial period after a fat diet intake in subjects with high triglyceridemia increases.

Clinica chimica acta; international journal of clinical chemistry
2016

Association of apolipoprotein E polymorphism with plasma lipid disorders, independent of obesity-related traits in Vietnamese children.

Lipids in health and disease
2016

A randomized, placebo-controlled, double-blind study on the effects of (-)-epicatechin on the triglyceride/HDLc ratio and cardiometabolic profile of subjects with hypertriglyceridemia: Unique in vitro effects.

International journal of cardiology
2016

Ages at Onset of 5 Cardiometabolic Diseases Adjusting for Nonsusceptibility: Implications for the Pathogenesis of Metabolic Syndrome.

American journal of epidemiology
2016

[Clinical Application of Methods for the Qualitative Evaluation of Lipid Abnormalities].

Rinsho byori. The Japanese journal of clinical pathology
2016

DIAGNOSTIC PERFORMANCE OF WAIST CIRCUMFERENCE MEASUREMENTS FOR PREDICTING CARDIOMETABOLIC RISK IN MEXICAN CHILDREN.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2015

Gene-based therapies in lipidology: current status and future challenges.

Current opinion in lipidology
2016

Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone.

Molecular &amp; cellular proteomics : MCP
2015

[Nicotinic acid increases cellular transport of high density lipoprotein cholesterol in patients with hypoalphalipoproteinemia].

Revista medica de Chile
2016

Early coronary artery disease--Usual and unusual suspects.

International journal of cardiology
2016

Dose-related antihyperglycemic and hypolipidemic effects of two novel thiazolidin-4-ones in a rodent model of metabolic syndrome.

Journal of diabetes
2015

Inflammatory Cytokine Profile Associated with Metabolic Syndrome in Adult Patients with Type 1 Diabetes.

Journal of diabetes research
2015

Beta2-adrenergic activity modulates vascular tone regulation in lecithin:cholesterol acyltransferase knockout mice.

Vascular pharmacology
2015

Therapeutic ultrasound: Increased HDL-Cholesterol following infusions of acoustic microspheres and apolipoprotein A-I plasmids.

Atherosclerosis
2015

Effect of open-label infusion of an apoA-I-containing particle (CER-001) on RCT and artery wall thickness in patients with FHA.

Journal of lipid research
2015

Hepatic lipase (LIPC) C-514T gene polymorphism is associated with cardiometabolic parameters and cardiovascular risk factors but not with fatty liver in Mexican population.

Experimental and molecular pathology
Ver todos os 104 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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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. Exercise training for the management of dyslipidaemia. A position statement from Exercise and Sports Science Australia (ESSA).
    Journal of science and medicine in sport· 2025· PMID 41298153mais citado
  2. Association between indoor air pollution exposure and dyslipidemia among Chinese adults: The role of leisure-time physical activity.
    Ecotoxicology and environmental safety· 2025· PMID 41061450mais citado
  3. Global prevalence of dyslipidemias in the general adult population: a systematic review and meta-analysis.
    Journal of health, population, and nutrition· 2025· PMID 40859400mais citado
  4. Metabolic Syndrome Prevalence and Its Components in Adolescents from Western Mexico.
    Pediatric reports· 2025· PMID 40863717mais citado
  5. Changes in physical activity before and after the diagnosis of dyslipidemia and the risk of atrial fibrillation: a population-based study in South Korea.
    Preventive medicine reports· 2025· PMID 40832618mais citado
  6. How urban park exposure shapes dyslipidemia risk: Evidence from mobility data in Seoul, South Korea.
    Soc Sci Med· 2026· PMID 41962501recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:31153(Orphanet)
  2. MONDO:0017773(MONDO)
  3. GARD:18801(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q5959167(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

Compêndio · Raras BR

Hipoalfalipoproteinemia

ORPHA:31153 · MONDO:0017773
CID-10
E78.6 · Deficiências de lipoproteínas
CID-11
Medicamentos
17 registrados
MedGen
UMLS
C0151691
EuropePMC
Wikidata
Papers 10a
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