lysosomal storage disease
HP:0003541 · SaudiVarKB evidence summary derived from retained literature mentions.
50Phenotype mentions
50Publications
21Associated gene records
21Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| GLA | HGNC:4296 | 3 | 3 |
| CTNS | HGNC:2518 | 3 | 3 |
| GLB1 | HGNC:4298 | 2 | 2 |
| NPC1 | HGNC:7897 | 2 | 2 |
| GALNS | HGNC:4122 | 2 | 2 |
| ARSB | HGNC:714 | 2 | 2 |
| LIPA | HGNC:6617 | 1 | 1 |
| FUCA1 | HGNC:4006 | 1 | 1 |
| MAN2B1 | HGNC:6826 | 1 | 1 |
| SUMF1 | HGNC:20376 | 1 | 1 |
| HEXB | HGNC:4879 | 1 | 1 |
| GBA1 | HGNC:4177 | 1 | 1 |
| ANTXR2 | HGNC:21732 | 1 | 1 |
| AGA | HGNC:318 | 1 | 1 |
| MBOAT7 | HGNC:15505 | 1 | 1 |
| IDUA | HGNC:5391 | 1 | 1 |
| NEU1 | HGNC:7758 | 1 | 1 |
| GNPTAB | HGNC:29670 | 1 | 1 |
| MCOLN1 | HGNC:13356 | 1 | 1 |
| ASAH1 | HGNC:735 | 1 | 1 |
| NAGLU | HGNC:7632 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| C163S | C163S | 1 | 1 |
| p.Asn177Ser | p.Asn177Ser | 1 | 1 |
| c.758_778del | c.758_778del | 1 | 1 |
| c.785A>G | c.785A>G | 1 | 1 |
| p.Gln262Arg | p.Gln262Arg | 1 | 1 |
| p.D528N | p.D528N | 1 | 1 |
| c.1307A>G | c.1307A>G | 1 | 1 |
| p.Y436C | p.Y436C | 1 | 1 |
| V97G | V97G | 1 | 1 |
| c.171C>G | c.171C>G | 1 | 1 |
| c.245+1G>A | c.245+1G>A | 1 | 1 |
| c.145C>T | c.145C>T | 1 | 1 |
| c.451G>T | c.451G>T | 1 | 1 |
| c.914+4A>G | c.914+4A>G | 1 | 1 |
| Y251X | Y251X | 1 | 1 |
| c.3488_3488delC | c.3488_3488delC | 1 | 1 |
| c.1759C>T | c.1759C>T | 1 | 1 |
| c.3503_3504delTC | c.3503_3504delTC | 1 | 1 |
| c.889C>T | c.889C>T | 1 | 1 |
| p.Arg297* | p.Arg297* | 1 | 1 |
| R112L | R112L | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 6 | 6 |
| Saudi Arabia | — | 2 | 2 |
| Population record | — | 1 | 1 |
| Population record | Cohort 3 | 1 | 1 |
| Population record | Cohort 24 | 1 | 1 |
| Population record | Cohort 19 | 1 | 1 |
| Population record | Cohort 1 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Population record | Cohort 1,190 | 1 | 1 |
| Saudi Arabia | Cohort 6 | 1 | 1 |
| Population record | Cohort 478 | 1 | 1 |
| Saudi Arabia | Cohort 40 | 1 | 1 |
| Population record | Cohort 163 | 1 | 1 |
| Saudi Arabia | Cohort 50 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 18 | 1 | 1 |
| Population record | Cohort 8 | 1 | 1 |
| Population record | Cohort 2,020 | 1 | 1 |
| Saudi Arabia | Cohort 221 | 1 | 1 |
Supporting publications
50 records- 2026Nasopharyngeal Cystine Crystal Deposition Postrenal Transplant: Case Report and Review of a Rare Cystinosis Manifestation.International journal of surgical pathology1 mentions
- 2026Neuroimaging Spectrum of GM1 Gangliosidosis with Description of Novel Imaging Signs.AJNR. American journal of neuroradiology1 mentions
- 2026Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease.Journal of inherited metabolic disease1 mentions
- 2026Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.Case reports in ophthalmology1 mentions
- 2026Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology1 mentions
- 2025Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences1 mentions
- 2025Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.Orphanet journal of rare diseases1 mentions
- 2025Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.Neurology international1 mentions
- 2024A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation.Journal of biomolecular structure & dynamics1 mentions
- 2024Airway management of a child with mucopolysaccharidosis undergoing cervical spine surgery: A case report.Saudi journal of anaesthesia1 mentions
- 2024Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.Cureus1 mentions
- 2024Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.Therapeutics and clinical risk management1 mentions
- 2023The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.International journal of molecular sciences1 mentions
- 2023Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.Diseases (Basel, Switzerland)1 mentions
- 2023Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.Scientific reports1 mentions
- 2023An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.Cell communication and signaling : CCS1 mentions
- 2022Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.Journal of proteome research1 mentions
- 2022Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.Wellcome open research1 mentions
- 2022Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases1 mentions
- 2022A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.Cureus1 mentions
- 2021The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.Molecular genetics & genomic medicine1 mentions
- 2021Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.Molecular genetics and metabolism1 mentions
- 2021Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.Journal, genetic engineering & biotechnology1 mentions
- 2021Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Human mutation1 mentions
- 2021Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report.SAGE open medical case reports1 mentions
- 2020Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.International journal of molecular sciences1 mentions
- 2020Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2019Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.Orphanet journal of rare diseases1 mentions
- 2019Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.BMC medical genetics1 mentions
- 2018The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.Journal of community genetics1 mentions
- 2018Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2018Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.Human mutation1 mentions
- 2018Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.Journal of child neurology1 mentions
- 2017A novel mutation and in vivo confocal microscopic findings in Fabry disease.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2017Infantile cystinosis: From dialysis to renal transplantation.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2016Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2016VaProS: a database-integration approach for protein/genome information retrieval.Journal of structural and functional genomics1 mentions
- 2015Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.Cardiology in the young1 mentions
- 2015Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.Pediatrics and neonatology1 mentions
- 2015Gaucher disease. Unusual presentation and mini-review.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2015Krabbe Disease in the Arab World.Journal of pediatric genetics1 mentions
- 2014Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Molecular genetics and metabolism1 mentions
- 2014Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2013A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.Gene1 mentions
- 2012Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.Brain & development1 mentions
- 2012Anesthetic management in children with Hurler's syndrome undergoing emergency ventriculoperitoneal shunt surgery.Saudi journal of anaesthesia1 mentions
- 2007Fucosidosis and anesthesia.Saudi medical journal1 mentions
- 2004Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.Human mutation1 mentions
- 2003Fabry kidney disease.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 1998Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience.Annals of Saudi medicine1 mentions