Tehran University of Medical Sciences

Science Communicator Platform

Share By
Overview of Clinical Presentation: Pathologic and Radiologic Findings of Gaucher Disease Publisher



Badv RS ; Rezaei Z ; Rostami P
Authors

Source: Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation Published:2025


Abstract

Gaucher disease (GD), like other lysosomal storage disorders, is a multisystem disease. Beta glucosidase deficiency leads to the progressive intralysosomal accumulation of glucosylceramide and other degraded substrates, causing cell damage and dysfunction. The exact cause of GD remains unknown despite the identification of the exact pathologic and genetic causes of the disease. Clinical heterogenicity results in variability of signs and symptoms among patients with the same mutation. On the contrary, patients with the same clinical manifestations may have very different genetic mutations. Therefore, a broad spectrum of presentation severity, from perinatal lethal to asymptomatic disease, is expected [1]. © 2025 The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.
Related Docs
View other Related Docs
1. Novel Mutation of Slc37a4 in a Glycogen Storage Disease Type Ib Patient With Neutropenia, Horseshoe Kidney, and Arteriovenous Malformation: A Case Report, Immunologic Research (2023)
2. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
3. Overview of Patients With Gaucher Disease From Iran, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
Experts (# of related papers)
View all Related Experts
Parastoo Rostami (3)
Shahriar Nafissi (3)
Other Related Docs
4. Identification of Eleven Different Mutations Including Six Novel, in the Arylsulfatase B Gene in Iranian Patients With Mucopolysaccharidosis Type Vi, Molecular Biology Reports (2019)
5. A Case Series: Congenital Hyperinsulinism, International Journal of Endocrinology and Metabolism (2016)
6. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3, Journal of Clinical Neuromuscular Disease (2018)
7. Phenotypic Diversity of Chronic Granulomatous Disease Within a Family Carrying the Same Ncf1 Gene Mutation, Iranian Journal of Allergy, Asthma and Immunology (2026)
8. Molecular Genetic Study of Glutaric Aciduria, Type I: Identification of a Novel Mutation, Journal of Cellular Biochemistry (2019)
9. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
10. A Cohort of Iranian Patients With Congenital Myasthenic Syndrome Due to Glycosylation Defects, Muscle and Nerve (2026)
11. A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria, Meta Gene (2018)
12. Late-Onset Pompe Disease in Iran: A Clinical and Genetic Report, Muscle and Nerve (2017)
13. A Novel Homozygous Rag1 Mutation Is Associated With Severe Combined Immunodeficiency and Neurological Presentations, Allergologia et Immunopathologia (2021)
14. Niemann-Pick Type a Disease With New Mutation: A Case Report, Journal of Medical Case Reports (2022)
15. Identification of a Novel Homozygous Mutation of the Bckdhb Gene in an Iranian Patient With Maple Syrup Disease Using Next-Generation Sequencing, Human Gene (2023)
16. Gaucher Disease: An Updated Guide to Diagnosis and Management and Patients Presentation, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
17. Genetics of Gne Myopathy in the Non-Jewish Persian Population, European Journal of Human Genetics (2016)
18. Association of a Point Mutation(M.9176T>G) of the Mt-Atp6 Genewith Leigh Syndrome: A Case Report, Biomedical Research and Therapy (2020)
19. High Occurrence of a Missense Variant (C.471C>A) in the Fgf23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect, Human Mutation (2025)
20. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort, Biochemical Genetics (2024)