Uma doença metabólica hereditária que acontece devido a um problema no transporte de íons de magnésio.
Introdução
O que você precisa saber de cara
Uma doença metabólica hereditária que acontece devido a um problema no transporte de íons de magnésio.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 39 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 90 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients (PubMed:29499166, PubMed:30388404). Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary
Cell membraneBasolateral cell membraneCell membrane, sarcolemmaCell projection, axonMelanosome
Charcot-Marie-Tooth disease, axonal, type 2DD
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:18188451, PubMed:28028216). Involved in the maintenance of ion gradients along the nephron. In the thick ascending limb (TAL) of Henle's loop, facilitates sodium paracellular permeability from the interstitial compartment to the lumen, contributing to the lumen-
Cell junction, tight junctionCell membrane
Hypomagnesemia 5, renal, with or without ocular involvement
A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.
Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity)
Cell membrane
Hypomagnesemia 6
A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic.
May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase
Membrane
Hypomagnesemia 2
A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.
Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:16234325, PubMed:18188451, PubMed:28028216). Involved in the maintenance of ion gradients along the nephron. In the thick ascending limb (TAL) of Henle's loop, facilitates sodium paracellular permeability from the interstitial compartment to the lumen, contribut
Cell junction, tight junctionCell membrane
Hypomagnesemia 3
A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia.
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alte
Cell membraneMembraneCell projection, axonCytoplasmic vesiclePerikaryonEndoplasmic reticulumCell projection, dendriteCell junctionSynapsePresynaptic cell membranePresynapse
Episodic ataxia 1
An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:34607910). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagD/RRAGD is in its active form when GDP-bound RagD/RRAGD forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GT
CytoplasmNucleusLysosome membrane
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy.
EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941)
Membrane
Hypomagnesemia 4
A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.
Bifunctional protein that combines an ion channel with an intrinsic kinase domain, enabling it to modulate cellular functions either by conducting ions through the pore or by phosphorylating downstream proteins via its kinase domain (PubMed:14576148, PubMed:16636202, PubMed:18258429, PubMed:18365021). Crucial for Mg(2+) homeostasis. Has an important role in epithelial Mg(2+) transport and in the active Mg(2+) absorption in the gut and kidney (PubMed:14576148). However, whether TRPM6 forms functi
Cell membraneApical cell membraneNucleus
Hypomagnesemia 1
A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage.
Variantes genéticas (ClinVar)
278 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
43 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração do transporte de magnésio
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Second allogeneic stem cell transplantation for XMEN disease.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is due to an inherited defect in immunity from loss-of-function mutations in the magnesium transporter 1 gene (MAGT1). Patients can present as adults with XMEN disease from a delayed diagnosis or lack of genetic diagnosis. Allogeneic stem-cell transplantation is curative in XMEN disease, but the mortality is high, especially in adults. Defective N-glycosylation of platelet glycoproteins impairs platelet aggregation and risks fatal mucosal haemorrhage (such as posterior epistaxis with airway obstruction and haemorrhagic shock requiring intubation) early during post-transplant aplasia. Maintaining a platelet level of at least 30×109/L until engraftment could avoid life-threatening haemorrhage. This is the first report of a successful second allogeneic stem-cell transplant in XMEN disease. Allogeneic stem-cell transplant in adults with XMEN disease should be considered as a curative option in patients with suitable donors.
NIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.
Metabolic reprogramming is a hallmark of cancer that promotes tumor progression and immune evasion. Here, we identify a NIPAL1-driven metabolic-epigenetic circuit in esophageal squamous cell carcinoma (ESCC) that facilitates tumor growth and suppresses antitumor immunity. Mechanistically, NIPAL1 recruits the tyrosine kinase HCK to phosphorylate LDHA at Y10, enhancing glycolysis and lactate production. Lactate accumulation promotes p300-mediated histone H3K18 lactylation (H3K18la), which transcriptionally activates NIPAL1 expression, establishing a self-sustaining NIPAL1-HCK-p-LDHA-lactate-p300-H3K18la loop. This axis functions independently of NIPAL1's canonical magnesium transporter activity and promotes immune escape by impairing CD8+ T cell function. Pharmacological inhibition of HCK or p300 disrupts this loop and restores antitumor immunity, sensitizing tumors to anti-PD-1 therapy. Clinically, expression of NIPAL1, p-LDHA (Y10), and H3K18la correlates with response to immune checkpoint blockade. Our findings reveal a previously unrecognized NIPAL1-HCK-H3K18la signaling loop that integrates tumor metabolism to immune regulation, offering promising targets to improve immunotherapy efficacy in ESCC.
The SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
Magnesium ion (Mg2+), particularly its free intracellular form, is indispensable for regulating diverse cellular functions. This critical role implies the existence of dedicated transporters and channels in the plasma membrane that coordinate Mg2+ uptake, intracellular storage, and efflux to maintain homeostasis. Although numerous molecular entities responsible for such Mg2+ transport have been reported over the past decades, there is still limited knowledge of their precise functions and disease implications. This review focuses on the solute carrier family 41 (SLC41), which consists of three isoforms (A1, A2, and A3) that share homology with the prokaryotic magnesium transporter E (MgtE) Mg2+ transporter family. Accumulating evidence has established SLC41A1 as the Na+/Mg2+ exchanger-a predominant Mg2+-efflux system. By contrast, the subcellular site of SLC41A2-mediated Mg2+ flux remains undefined, with potential roles at either the plasma membrane or organellar membranes, and SLC41A3 facilitates Na+-dependent Mg2+ efflux from mitochondria. Additionally, several studies have reported the association between SLC41s and diseases, including Parkinson's disease, hepatocellular carcinoma, and nephronophthisis-related ciliopathies. By synthesizing current knowledge, this review aims to enhance the understanding of SLC41 transporters in health and disease and to explore their potential as therapeutic targets for clinical intervention.
Chronic magnesium supplementation in a patient with relapsing severe hypomagnesaemia due to a novel TRPM6 variant diagnosed in adulthood.
A man in his late 50s presented with muscle cramps due to severe hypomagnesaemia. Extensive evaluation established the diagnosis of adult-onset familial hypomagnesaemia with secondary hypocalcaemia (HOMG1, OMIM #602014). As expected, due to impaired gastrointestinal absorption, oral magnesium supplementation proved insufficient to maintain stable serum magnesium concentrations, leading to recurrent emergency department presentations and the need for alternative supplementation routes. Intravenous magnesium two times a week was effective for over 3 years, until device infections and venous occlusions rendered intravenous access unfeasible. Subcutaneous magnesium infusion provided an alternative, although local pain required concomitant anaesthetics, and recurrent allergic reactions to these agents introduced additional challenges. Hypomagnesaemia is a common clinical finding and often secondary to proton pump inhibitor or excessive alcohol use. This case illustrates a rare presentation of severe and relapsing hypomagnesaemia in adult-onset HOMG1, with an overview of the successes and complexities of long-term parenteral magnesium supplementation.
Calcium and magnesium deficiency induces stress granule formation to maintain magnesium homeostasis.
Hypocalcemia and hypomagnesemia frequently occur under pathological conditions such as Crohn's disease or during diuretic treatment. However, how the combined deficiency of Ca2+ and Mg2+ affects cellular physiology has remained unclear. In this study, we focused on this issue and found that Ca2+/Mg2+ deprivation is a potent driver of stress granule (SG) formation. When SG formation was inhibited by G3BP1/2 knockdown, Ca2+/Mg2+ deprivation caused a further decrease in intracellular Mg2+ levels and an increase in cell death, indicating that SGs function to mitigate Mg2+ loss and protect cells from death under cation-deficient conditions. Furthermore, we found that the expression of the Mg2+ transporter MAGT1 is upregulated in an SG-dependent manner, and that MAGT1 knockdown further decreases intracellular Mg2+ levels and increases cell death. Collectively, our results demonstrate that SG formation acts as an adaptive mechanism to maintain Mg2+ homeostasis during Ca2+/Mg2+ deficiency.Key words: stress granule, MAGT1, magnesium, calcium.
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bioRxiv : the preprint server for biologyParadoxes in magnesium transport in type 1 Bartter's syndrome and Gitelman's syndrome: a modeling analysis.
American journal of physiology. Renal physiologyMRS2 missense variation at Asp216 abrogates inhibitory Mg2+ binding, potentiating cell migration and apoptosis resistance.
Protein science : a publication of the Protein SocietyThe neuroprotective potential of magnesium in Parkinson's disease.
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Scientific reportsHow the kidney regulates magnesium: a modelling study.
Royal Society open scienceMagnesium Transporter MgtA revealed as a Dimeric P-type ATPase.
bioRxiv : the preprint server for biologyOptimizing nutrient transporters to enhance disease resistance in rice.
Journal of experimental botanyPotential of the Blue Calm® food supplement in the treatment of alcohol withdrawal-induced anxiety in adult zebrafish (Danio rerio).
Neurochemistry internationalRare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.
BMJ case reportsEvaluation and Management of Hyponatremia in Heart Failure.
Current heart failure reportsMagnesium Disorders: Core Curriculum 2024.
American journal of kidney diseases : the official journal of the National Kidney FoundationRenal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
NefrologiaMultiple electrolyte disorders triggered by proton pump inhibitor-induced hypomagnesemia: Case reports with a mini-review of the literature.
Clinical nephrology. Case studiesProphylactic vitamin C supplementation regulates DNA demethylation to protect against cisplatin-induced acute kidney injury in mice.
Biochemical and biophysical research communicationsThe Structural Basis for Metal Ion Transport in the SLC11/NRAMP Family.
ChimiaLong-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.
The American journal of case reportsAdult-onset neurodegeneration in XMEN disease.
Journal of neuroimmunologyUrinary Klotho Excretion: A Key Regulator of Sodium Homeostasis in Chronic Kidney Disease Stage 2-4.
Medical science monitor basic researchDose response of running on blood biomarkers of wellness in generally healthy individuals.
PloS oneIntegrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Nature geneticsContribution of thick ascending limb and distal convoluted tubule to glucose-induced hypercalciuria in healthy controls.
American journal of physiology. Renal physiologyRatiometric Fluorescent Sensors Illuminate Cellular Magnesium Imbalance in a Model of Acetaminophen-Induced Liver Injury.
Journal of the American Chemical SocietyMagnesium Status, Genetic Variants of Magnesium-Related Ion Channel Transient Receptor Potential Membrane Melastatin 6 (TRPM6) and the Risk of Gestational Diabetes Mellitus in Chinese Pregnant Women: A Nested Case-Control Study.
Molecular nutrition & food researchGRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
EpilepsiaDecreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia.
Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyCD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of MAGT1 Deficiency.
Therapeutic advances in allergy and rhinologyAn integrated approach to evaluate the functional effects of disease-associated NMDA receptor variants.
NeuropharmacologyOxidative stress responses and their alterations in the Nrf2-NMDA receptor pathway in the brain of suicide victims.
Journal of physiology and pharmacology : an official journal of the Polish Physiological SocietyIntrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Orphanet journal of rare diseasesGenotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
Scientific reportsRegulation of corA, the Magnesium, Nickel, Cobalt Transporter, and Its Role in the Virulence of the Soft Rot Pathogen, Pectobacterium versatile Strain Ecc71.
MicroorganismsXdfA, a novel membrane-associated DedA family protein of Xanthomonas campestris, is required for optimum virulence, maintenance of magnesium, and membrane homeostasis.
mBioFunction of TRP channels in monocytes/macrophages.
Frontiers in immunologyMAGT1 Deficiency Dysregulates Platelet Cation Homeostasis and Accelerates Arterial Thrombosis and Ischemic Stroke in Mice.
Arteriosclerosis, thrombosis, and vascular biologyDyshomeostasis of Iron and Its Transporter Proteins in Cypermethrin-Induced Parkinson's Disease.
Molecular neurobiologyMetalloglycobiology: The power of metals in regulating glycosylation.
Biochimica et biophysica acta. General subjectsImprovement effect of biochar on soil microbial community structure and metabolites of decline disease bayberry.
Frontiers in microbiologyDrugs acting at TRPM7 channels inhibit seizure-like activity.
Epilepsia openIdentification of host regulators of Mycobacterium tuberculosis phenotypes uncovers a role for the MMGT1-GPR156 lipid droplet axis in persistence.
Cell host & microbeTRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells.
Frontiers in bioscience (Landmark edition)MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Journal of thrombosis and haemostasis : JTHEpigenetic activation of the TUSC3 gene as a potential therapy for XMEN disease.
The Journal of allergy and clinical immunologyA case report of Gitelman syndrome in children.
MedicineIon channels in dry eye disease.
Indian journal of ophthalmologyMetal ratios as possible biomarkers for amyotrophic lateral sclerosis.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.
CEN case reportsPrader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.
International journal of molecular sciencesA case of advanced breast cancer with Gitelman syndrome.
International cancer conference journalNeurologic Improvement in Acute Cerebral Ischemia: Frequency, Magnitude, Predictors, and Clinical Outcomes.
NeurologyLimiting Mrs2-dependent mitochondrial Mg2+ uptake induces metabolic programming in prolonged dietary stress.
Cell reportsThe Rationale for Vitamin, Mineral, and Cofactor Treatment in the Precision Medical Care of Autism Spectrum Disorder.
Journal of personalized medicineInsulin decreases epileptiform activity in rat layer 5/6 prefrontal cortex in vitro.
Synapse (New York, N.Y.)Magnesium Homeostasis: Lessons from Human Genetics.
Clinical journal of the American Society of Nephrology : CJASNFunctional characteristics and therapeutic potential of SLC41 transporters.
Journal of pharmacological sciencesMagnesium reabsorption in the kidney.
American journal of physiology. Renal physiologyFurosemide rescues hypercalciuria in familial hypomagnesaemia with hypercalciuria and nephrocalcinosis model.
Acta physiologica (Oxford, England)A Mini Review on the Various Facets Effecting Brain Delivery of Magnesium and Its Role in Neurological Disorders.
Biological trace element researchDetection of TRPM6 and TRPM7 Proteins in Normal and Diseased Cardiac Atrial Tissue and Isolated Cardiomyocytes.
International journal of molecular sciencesFormulation and evaluation of magnesium sulphate nanoparticles for improved CNS penetrability.
Naunyn-Schmiedeberg's archives of pharmacologyHormetic activation of nano-sized rare earth element terbium on growth, PSII photochemistry, antioxidant status and phytohormone regulation in Lemnaminor.
Plant physiology and biochemistry : PPBRestoring cellular magnesium balance through Cyclin M4 protects against acetaminophen-induced liver damage.
Nature communicationsAdvances in multi-omics study of biomarkers of glycolipid metabolism disorder.
Computational and structural biotechnology journalToxicity Effects and Mechanisms of MgO Nanoparticles on the Oomycete Pathogen Phytophthora infestans and Its Host Solanum tuberosum.
ToxicsPrader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.
American journal of medical genetics. Part AMICU1 and MICU2 potentiation of Ca2+ uptake by the mitochondrial Ca2+ uniporter of Trypanosoma cruzi and its inhibition by Mg2.
Cell calciumFamilial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.
CEN case reportsPharmacological agents selectively acting on the channel moieties of TRPM6 and TRPM7.
Cell calciumN-methyl-D-aspartate receptor antagonists in improving cognitive deficits following traumatic brain injury: a systematic review.
Brain injuryThe Therapeutic Effects of Magnesium in Insulin Secretion and Insulin Resistance.
Advanced biomedical researchTransient receptor potential melastatin 7 and their modulators.
European journal of pharmacologyThe genetic spectrum of Gitelman(-like) syndromes.
Current opinion in nephrology and hypertensionTRPM7 Modulates Human Pancreatic Stellate Cell Activation.
CellsTRPM7 deficiency exacerbates cardiovascular and renal damage induced by aldosterone-salt.
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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.
- Second allogeneic stem cell transplantation for XMEN disease.
- NIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.
- The SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
- Chronic magnesium supplementation in a patient with relapsing severe hypomagnesaemia due to a novel TRPM6 variant diagnosed in adulthood.
- Calcium and magnesium deficiency induces stress granule formation to maintain magnesium homeostasis.
- Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report.
- Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( TRPM6 ) Gene.
- Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder.
- Calculated plasma medial effective concentration of propofol with and without magnesium sulfate at loss of consciousness.
- Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309848(Orphanet)
- MONDO:0017765(MONDO)
- GARD:21357(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18966986(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
