Um grupo de doenças hereditárias em que o corpo não consegue processar ou eliminar certas substâncias, como gorduras e açúcares complexos. Elas se acumulam nos tecidos, causando problemas no desenvolvimento mental e malformações nos ossos.
Introdução
O que você precisa saber de cara
Um grupo de doenças hereditárias em que o corpo não consegue processar ou eliminar certas substâncias, como gorduras e açúcares complexos. Elas se acumulam nos tecidos, causando problemas no desenvolvimento mental e malformações nos ossos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 112 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 316 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
4 genes identificados com associação a esta condição.
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage
Lysosome membraneLysosome lumenCell membraneCytoplasmic vesicleLysosome
Sialidosis
Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells.
Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:18794901, PubMed:25720963, PubMed:27623384, PubMed:29019983). Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:25720963, PubMed:29019983). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is importan
Late endosome membraneLysosome membraneCytoplasmic vesicle membraneCell projection, phagocytic cupCytoplasmic vesicle, phagosome membraneCell membrane
Mucolipidosis 4
An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors
SecretedGolgi apparatus
Mucolipidosis type III complementation group C
Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild intellectual disability. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment
Golgi apparatus membrane
Mucolipidosis type II
Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth.
Variantes genéticas (ClinVar)
458 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,737 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 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 — Mucolipidose
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
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
16 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coarse facies, distended abdomen, short stature, and severe physical disability. In a diagnostic odyssey, we report a female patient, born in 2008, daughter of consanguineous parents, with hand contractures and a typical facial appearance since 5 months old. She was clinically diagnosed at 2 years old with contractures and severe dysplasia. Systolic murmur, thickening of mitral and aortic valves, and tricuspid regurgitation were observed. Nine enzymes showed increased levels in plasma, and seven showed decreased levels in fibroblasts. Abnormal sialic acid profile and GAGs (glycosaminoglycans) were detected in urine. No variants were identified during more than a decade of investigation. A whole-genome analysis identified the homozygous nonsense variant NM_001098621.4:c.112C>T (p.Gln38Ter) in the LYSET gene. The patient had not been diagnosed before due to the recent association of the gene with the lysosomal hydrolase labeling pathway. She died in 2018 from respiratory causes. The discovery of the relationship between the LYSET gene and lysosomal biogenesis was determinative of the diagnostic conclusion. Cases of dysostosis multiplex can be highly challenging due to the rarity of the disease and its clinical similarity to mucopolysaccharidosis (MPS) and mucolipidosis II/III (MLII/III). This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P-labeled lysosomal enzymes are altered.
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Lysosomal storage disorders (LSDs) are a diverse group of over 70 rare, inherited metabolic conditions that present significant diagnostic and therapeutic challenges, especially in genetically diverse and resource-limited settings like India. To address the lack of a centralized clinical and genomic data registry for LSDs, we established the first government-supported national LSDs biobank in India. This study describes the infrastructure, sample collection, storage procedures, ethical framework, and expected impact of the biobank on research, diagnostics, and patient care. The study includes biological samples and clinical-genetic data from 530 patients, (526 unrelated individuals and 2 sibling pairs), over a 17-year period (2008-2025). Biological samples including genomic DNA from blood, plasma, and urine precipitate were processed for enzyme and genetic investigations. A centralized webpage has been established to manage the biological sample data including clinical, enzyme and genetic data. The LSD biobank cohort encompasses 8 LSD subgroups across 27 disorders, with the most common being Gaucher disease (n = 70), Tay-Sachs disease (n = 62), Mucolipidosis (ML) II/III (n = 44), and Morquio-A (n = 40). Samples originated from 15 Indian states, with a predominance of pediatric cases. Detailed phenotypic, enzymatic, and genomic profiles were generated. Enzyme assays confirmed markedly reduced activity in most cases, with variable residual activity noted in few LSDs. Genetic analyses using Sanger sequencing, PCR-RFLP, targeted gene panel sequencing, and/ or whole exome sequencing detected causative variants. Notably, c.1469T > C in the IDUA gene (29.4% in Hurler disease), c.230 C > G in the GALNS gene (22.5% in Morquio-A disease), c.1448T > C in the GBA1 gene (56% in Gaucher disease), and c.1385 C > T and c.964G > T in the HEXA gene (11.3% and 8.1% respectively in Tay-Sachs disease) were the most common variants. Several novel, private mutations were also identified, broadening the mutational landscape of LSDs. The present study represents a scalable model for rare disease research in low- and middle-income countries. This resource lays the foundation for genotype-phenotype correlation studies, natural history analyses, and future precision medicine strategies tailored to the Indian population.
Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Sialidosis, also known as Mucolipidosis Type I, is a rare condition caused by defects in the NEU1 gene which causes the accumulation of sialylated peptides, oligosaccharides, and glycoproteins leading to neurological decline. Haematopoetic stem cell transplantation has been performed in the symptomatic phase twice in the literature but has failed to prevent deterioration. We report on a case where a 4-year-old child was diagnosed with pre-symptomatic sialidosis due to investigation following the incidental detection of a cherry-red spot prior to the onset of neurological symptoms. We performed haematopoetic stem cell transplantation with a matched unrelated cord blood unit with optimal timing prior to clinical decline, achieving full donor engraftment with a largely uneventful post-transplant recovery followed by a period of relative clinical stability. However, subsequent neurological decline detailed by clinical history and radiological findings has occurred suggesting a lack of disease responsiveness to transplantation despite optimal timing. We go on to provide supporting laboratory investigations detailing sialidosis fibroblast culture as part of a novel cross-correction assay and compare results to other transplant responsive lysosomal storage disorders such as mucopolysaccharidosis type 1-H and detail a lack of cross-correction in concordance with our clinical findings. We conclude that conventional allogeneic haematopoetic stem cell transplantation is not a viable disease-modifying treatment option in sialidosis, even when performed optimally in the pre-symptomatic phase, and suggest that alternative treatment options must be explored to improve outcomes in this condition.
Pneumothorax as a life-threatening long-term complication with mucolipidosis type II.
A rare encounter mucolipidosis type II alpha/beta: A case report.
Mucolipidosis type II alpha/beta (ML II) (OMIM # 252500), alternatively referred to as Inclusion Cell (I-cell) Disease, is a relatively rare lysosomal storage disorder that is autosomal recessive in inheritance due to the mutation of the GNPTAB (N-acetylglucosamine-1-phosphate transferase sub-units alpha and beta) gene present on chromosome 12q23.3. Currently, there is no cure for this disorder; treatment is both symptomatic and palliative. This report describes the case of a five-year-old patient with ML II with pathogenic variant (t c.3335+1G>A) who presented with aspiration pneumonia and renal insufficiency. The child was born to a consanguineous couple and had a sibling with a similar clinical presentation who passed away at age four due to cardiovascular complications. The patient was treated with continuous positive airway pressure (CPAP) and IV Tazobactam, Piperacillin, and Vancomycin. On follow-up, she was started on Spironolactone 20mg and Captopril 12.5mg daily for mitral regurgitation.
Publicações recentes
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
A rare encounter mucolipidosis type II alpha/beta: A case report.
TRPML1 suppresses pulmonary fibrosis by limiting collagen and elastin deposition.
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Pneumothorax as a life-threatening long-term complication with mucolipidosis type II.
📚 EuropePMC628 artigos no totalmostrando 198
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
Clinical geneticsA rare encounter mucolipidosis type II alpha/beta: A case report.
JPMA. The Journal of the Pakistan Medical AssociationTRPML1 suppresses pulmonary fibrosis by limiting collagen and elastin deposition.
The EMBO journalDevelopment of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Orphanet journal of rare diseasesPneumothorax as a life-threatening long-term complication with mucolipidosis type II.
Pediatrics international : official journal of the Japan Pediatric SocietyFailure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Journal of inherited metabolic diseaseFunctional Trajectory of Childhood Stroke in the Inpatient Rehabilitation Setting.
Archives of rehabilitation research and clinical translationThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II.
Cell communication and signaling : CCSA novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
BMC medical genomicsWhen it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
European journal of pediatricsDifferential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.
The Journal of biological chemistryMucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Journal of pediatric endocrinology & metabolism : JPEMPrevalence of lysosomal storage disease (LSD) in Malaysia.
The Malaysian journal of pathologyGene therapy in cardiac and vascular diseases: a review of approaches to treat genetic and common cardiovascular diseases with novel gene-based therapeutics.
Cardiovascular researchHand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Molecular genetics and metabolism reportsAtypical presentation of mucolipidosis type III.
BMJ case reportsCellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.
International journal of molecular sciencesEstablishing a robust genetic sequencing and gene expression data library in cardiovascularly healthy cats.
Scientific reportsExploring human plasma proteomic variations in mucolipidosis type IV.
Molecular therapy. Methods & clinical developmentLysosomal ion channels and pain.
Pain reports[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].
Zhonghua er ke za zhi = Chinese journal of pediatricsEstablishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.
International journal of molecular sciencesDisruption of Man-6-P-Dependent Sorting to Lysosomes Confers IGF1R-Mediated Apoptosis Resistance.
International journal of molecular sciencesAge-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis II.
Molecular therapy : the journal of the American Society of Gene TherapyTPCs: FROM PLANT TO HUMAN.
Physiological reviewsBiallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.
American journal of medical genetics. Part ATRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.
Journal of the American Society of Nephrology : JASNAtp6v0d2 deficiency partially restores defects in Mcoln1-deficient mouse corpus luteum.
Reproductive and developmental medicineNovel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
International journal of molecular sciencesType 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.
Clinical case reportsTwo GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.
Fetal and pediatric pathologyLYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase.
Molecular biology of the cellDisease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
NeurologyAnalysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
Molecular genetics and metabolismMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
GenesClinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.
BMC pediatricsMolecular Insights into the Regulation of GNPTAB by TMEM251.
bioRxiv : the preprint server for biologyExploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.
Journal of biomolecular structure & dynamicsSYMMETRIC BILATERAL MACULAR ATROPHY IN MUCOLIPIDOSIS TYPE 3: A RARE MANIFESTATION.
Retinal cases & brief reportsMulti-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism.
Molecular genetics and metabolismToward a translational gene therapy for mucolipidosis IV.
Molecular therapy. Methods & clinical developmentTRPML1 gating modulation by allosteric mutations and lipids.
eLifeMucolipidosis III: a rare phenocopy of inherited metabolic cardiomyopathy.
European heart journalLysosomal storage diseases.
Handbook of clinical neurologyThe Pediatric Physiatric Posterior Fossa Symptoms scale: Impairments and outcome in pediatric inpatient rehabilitation for posterior fossa brain tumors.
Neuro-oncologyStructure of a truncated human GlcNAc-1-phosphotransferase variant reveals the basis for its hyperactivity.
The Journal of biological chemistryThe mucolipidosis III-causing mutation in GNPTAB, c.1760G>C, disrupts the development of somites in rats.
Genes & diseasesA blood-brain barrier-penetrant AAV gene therapy improves neurological function in symptomatic mucolipidosis IV mice.
Molecular therapy. Methods & clinical development(S)-ML-SA1 Activates Autophagy via TRPML1-TFEB Pathway.
Chembiochem : a European journal of chemical biologyMultimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant.
Cornea[Importance of lysosomal storage diseases in rheumatology].
Zeitschrift fur RheumatologieAAV-mediated gene therapy for sialidosis.
Molecular therapy : the journal of the American Society of Gene TherapyJuvenile sialidosis: a rare case and review of the literature.
Annals of medicine and surgery (2012)Total hip arthroplasty in patients with common pediatric hip orthopedic pathology.
Journal of children's orthopaedicsA Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesMCOLN1/TRPML1 in the lysosome: a promising target for autophagy modulation in diverse diseases.
AutophagySpecific GAG ratios in the diagnosis of mucopolysaccharidoses.
JIMD reportsLysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
JIMD reportsUnlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology.
Indian journal of pediatricsGene therapy corrects the neurological deficits of mice with sialidosis.
Gene therapyEarly diagnostic clues of mucolipidosis type II: Significance of radiological findings.
American journal of medical genetics. Part ADiscovery and characterization of novel TRPML1 agonists.
Bioorganic & medicinal chemistry lettersExtensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.
Children (Basel, Switzerland)In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
Genetics and molecular biologyTranscriptome dataset of light-dependent expression in the early onset retinal degeneration model, Mcoln1-/- mouse.
Data in briefExamining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease.
CellsLisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
American journal of ophthalmologyPaediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
DiabetologiaShort stature, dysostosis multiplex and storage disorder: mucolipidosis II.
BMJ case reportsUnraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
BMC ophthalmology[Diagnosis of mucolipidosis type Ⅱ suggested by placental pathology: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyBrain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV.
Frontiers in molecular neuroscienceJoint manifestations revealing inborn metabolic diseases in adults: a narrative review.
Orphanet journal of rare diseasesOutcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations.
Frontiers in pediatricsSkeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ceskoslovenska patologieCNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.
Journal of clinical medicineMultiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.
Molecular genetics and metabolism reportsSevere dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.
JIMD reportsMucolipidosis: A mimicker of juvenile idiopathic arthritis.
International journal of rheumatic diseasesAnalysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Journal of inherited metabolic diseaseLYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway.
AutophagyFacial features of lysosomal storage disorders.
Expert review of endocrinology & metabolismOrofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.
JIMD reportsNewborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience.
American journal of medical genetics. Part C, Seminars in medical geneticsGCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.
Nature communicationsThe human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
Science (New York, N.Y.)Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase.
Proceedings of the National Academy of Sciences of the United States of America[Lysosomal enzyme analysis of mucolipidosis type II α/β and type III α/β in two Chinese pedigrees].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
EMBO molecular medicineActivated Endolysosomal Cation Channel TRPML1 Facilitates Maturation of α-Synuclein-Containing Autophagosomes.
Frontiers in cellular neuroscienceAnaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients.
Journal of clinical medicineThe Dictyostelium Model for Mucolipidosis Type IV.
Frontiers in cell and developmental biologyCarpal tunnel syndrome in children: a case report.
The Pan African medical journalCase Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis).
Frontiers in pediatricsCross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Neurology. GeneticsMass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.
Molecular omicsSecondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
Journal of clinical medicineMucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
GenesThe High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.
Journal of pediatric ophthalmology and strabismusPeripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
CellsAnterior megalophthalmos in sisters with Witteveen-Kolk syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusStructural mechanism of allosteric activation of TRPML1 by PI(3,5)P2 and rapamycin.
Proceedings of the National Academy of Sciences of the United States of AmericaThe rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
The Turkish journal of pediatricsLysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Annals of Indian Academy of NeurologyHurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases - Is it Mucolipidosis?
Neurology IndiaClinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.
Clinical dysmorphologyDiagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.
Diagnostics (Basel, Switzerland)Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Journal, genetic engineering & biotechnologyPathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genetics in medicine : official journal of the American College of Medical GeneticsLysosomal calcium and autophagy.
International review of cell and molecular biologyMucolipidosis type II and type III: a systematic review of 843 published cases.
Genetics in medicine : official journal of the American College of Medical GeneticsUDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
The Journal of investigative dermatologyProgress in elucidating pathophysiology of mucolipidosis IV.
Neuroscience lettersMucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
Brain & developmentWhite matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
Metabolic brain diseasePlacental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Molecular genetics and metabolism reportsMCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Human molecular geneticsExploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.
BiomedicinesIn Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV.
OphthalmologyCorneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieTransmembrane 163 (TMEM163) Protein: A New Member of the Zinc Efflux Transporter Family.
BiomedicinesElevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Diagnostics (Basel, Switzerland)Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
NPJ genomic medicineTransgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.
Scientific reportsClinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
Molecular biology reportsIs hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Molecular genetics and metabolism reports[Late onset visual loss due to retinal atrophy in atypical mucolipidosis type IV].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftDetection of aberrant splicing events in RNA-seq data using FRASER.
Nature communicationsProteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.
Orphanet journal of rare diseasesPersistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects.
Neuromuscular disorders : NMDA new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Orphanet journal of rare diseasesBiallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Human mutationPerioperative management of patients with Mucolipidosis II and III: Lessons from a case series.
Paediatric anaesthesiaChemical and pharmacological characterization of the TRPML calcium channel blockers ML-SI1 and ML-SI3.
European journal of medicinal chemistryHip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.
BoneInappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.
JCI insightImbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Disease models & mechanismsDilated cardiomyopathy in mucolipidosis type 2.
Journal of biological regulators and homeostatic agentsMucolipidoses Overview: Past, Present, and Future.
International journal of molecular sciencesA Rare Manifestation of Right Ventricular Dysfunction in an Adult Patient With Mucolipidosis Type III α/β.
The Canadian journal of cardiologyMitochondria-lysosome contacts regulate mitochondrial Ca2+ dynamics via lysosomal TRPML1.
Proceedings of the National Academy of Sciences of the United States of AmericaDifferential diagnosis portfolio of a pediatric rheumatologist: eight cases, eight stories.
Clinical rheumatologyIdentification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Journal of human geneticsDistinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
Journal of the American Society of Nephrology : JASNBlau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.
Archives of rheumatologyNeuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
International journal of molecular sciencesEarly evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.
Disease models & mechanismsThe Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
CellsComprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta ophthalmologicaUpregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells.
BiomoleculesTerm Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome.
Journal of pediatric geneticsShared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
European journal of medical geneticsDevelopment of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
Human gene therapyTracheal and lower airway changes in a patient with mucolipidosis type II.
Pediatric pulmonologyIdentification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
Journal of pediatric endocrinology & metabolism : JPEMDisease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
Human mutationLong-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
American journal of medical genetics. Part AHip Morphology in Mucolipidosis Type II.
Journal of clinical medicineAgonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.
eLifeLysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Prenatal diagnosisNewborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Orphanet journal of rare diseasesCompound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.
International journal of clinical and experimental pathologyNovel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.
Brain & developmentUnique molecular signature in mucolipidosis type IV microglia.
Journal of neuroinflammationStructural insights into group II TRP channels.
Cell calciumTRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway.
Nature communications[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsA neonate with mucolipidosis II and transient secondary hyperparathyroidism.
Journal of pediatric endocrinology & metabolism : JPEMMultiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Molecular genetics and metabolismClinical Characterization of Mucolipidoses II and III: A Multicenter Study.
Journal of pediatric geneticsIdentification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Medical science monitor : international medical journal of experimental and clinical researchCombined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
Human mutationExome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.
Molecular genetics & genomic medicineCraniosynostosis and metabolic bone disorder. A review.
Neuro-ChirurgieTransient Receptor Potential Channels and Metabolism.
Molecules and cellsCharacterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).
Turkish journal of biology = Turk biyoloji dergisiAssociation of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†.
Biology of reproductionSelective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016).
Molecular genetics and metabolism reportsHumoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Genetics and molecular biology[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSleep-disordered breathing in children with mucolipidosis.
American journal of medical genetics. Part AZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice.
Molecular brainDysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish.
iScienceThe lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Human mutationClinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
Skeletal radiologyLysosomal storage disorders: pathology within the lysosome and beyond.
Journal of neurochemistryA genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.
Nature communicationsRare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.
Annals of clinical and laboratory scienceA GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
BMC veterinary researchClinical implementation of gene panel testing for lysosomal storage diseases.
Molecular genetics & genomic medicineDoes the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Clinical dysmorphologyB-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease).
Pediatric researchNeonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).
BMJ case reportsGenetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
Genetic testing and molecular biomarkersI-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.
JIMD reportsGNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
BMC medical geneticsRecycling of Golgi glycosyltransferases requires direct binding to coatomer.
Proceedings of the National Academy of Sciences of the United States of AmericaMucolipidosis type IV in a child.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAssociações
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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.
- The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
- Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
- Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
- Pneumothorax as a life-threatening long-term complication with mucolipidosis type II.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41566634mais citado
- A rare encounter mucolipidosis type II alpha/beta: A case report.
- TRPML1 suppresses pulmonary fibrosis by limiting collagen and elastin deposition.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79212(Orphanet)
- MONDO:0019248(MONDO)
- GARD:18975(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1952032(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