SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Genome sequencing identifies an attenuated, cardiac-predominant form of mucolipidosis type IIIα/β as the potential cause of a genetically elusive, ring-like arrhythmogenic non-dilated left ventricular cardiomyopathy.HeartRhythm case reports · 2026Article
- Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.Orphanet journal of rare diseases · 2026Article
- Review
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.Molecular genetics and metabolism reports · 2025Article
- Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.International journal of molecular sciences · 2025Article
- Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.International journal of molecular sciences · 2025Article
- Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.BMC pediatrics · 2024Article
- The mucolipidosis III-causing mutation inGenes & diseases · 2024Article
- Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.Genome medicine · 2024Article
- [Importance of lysosomal storage diseases in rheumatology].Zeitschrift fur Rheumatologie · 2024Review
- Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.BMC ophthalmology · 2023Article
- CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.Journal of clinical medicine · 2023Article
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations.Frontiers in pediatrics · 2023Article
- GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.Nature communications · 2022Article
- Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.Orphanet journal of rare diseases · 2022Review
- Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients.Journal of clinical medicine · 2022Article
- Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma are rare autosomal recessive lysosomal storage disorders. Data on the natural course of the diseases are scarce. These data are important for counseling, therapies development, and improvement of outcome. The aim of this study is to gain knowledge on the natural history of ML by obtaining data on survival, symptom onset, presenting symptoms, diagnosis, and pathogenic variants associated with the MLII or MLIII phenotype.
methodsA systematic review on all published MLII and MLIII cases between 1968 and August 2019 was performed.
resultsThree hundred one articles provided data on 843 patients. Median age at diagnosis: 0.7 for MLII and 9.0 years for MLIII. Median survival: 5.0 for MLII and 62.0 years for MLIIIII. Median age of death: 1.8 for MLII and 33.0 years for MLIII. Most frequent causes of death in all ML were pulmonary and/or cardiac complications. Pathogenic variants were described in 388 patients (GNPTAB: 571, GNPTG 179).
conclusionThis review provides unique insights into the natural history of MLII and MLIII, with a clear genotype-phenotype correlation with the most frequent pathogenic variant c.3503_3504del in MLII and in MLIII alpha/beta c.22A>G for GNPTAB. All pathogenic GNPTG variants resulted in MLIII gamma.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.