Niemann-Pick disease
SaudiVarKB evidence summary derived from retained literature mentions.
19Phenotype mentions
19Publications
9Associated gene records
18Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| H421Y | H421Y | 2 | 2 |
| rs1800592 | rs1800592 | 1 | 1 |
| rs10011540 | rs10011540 | 1 | 1 |
| rs3811791 | rs3811791 | 1 | 1 |
| rs1805081 | rs1805081 | 1 | 1 |
| rs1805082 | rs1805082 | 1 | 1 |
| rs45539933 | rs45539933 | 1 | 1 |
| rs2270565 | rs2270565 | 1 | 1 |
| W533R | W533R | 1 | 1 |
| L137P | L137P | 1 | 1 |
| L549P | L549P | 1 | 1 |
| K576N | K576N | 1 | 1 |
| S379P | S379P | 1 | 1 |
| R441X | R441X | 1 | 1 |
| R474W | R474W | 1 | 1 |
| F480L | F480L | 1 | 1 |
| A196P | A196P | 1 | 1 |
| W32X | W32X | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 4 | 4 |
| Saudi Arabia | Cohort 492 | 1 | 1 |
| Population record | Cohort 85 | 1 | 1 |
| Saudi Arabia | Cohort 394 | 1 | 1 |
| Population record | Cohort 2,020 | 1 | 1 |
| Saudi Arabia | Cohort 125 | 1 | 1 |
Supporting publications
19 records- 2026Targeting Pathways Implicated in Cholesterol Metabolism for Novel Cancer Therapy.Cancers1 mentions
- 2026Nano-Based Therapeutics in Rare Disease Management: Current Perspectives, Challenges, and Unmet Needs.Current neuropharmacology1 mentions
- 2024Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.Cureus1 mentions
- 2024CffDNA screening for Niemann-pick disease, type C1: a case series.Frontiers in medicine1 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
- 2022Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.Wellcome open research1 mentions
- 2022A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.Children (Basel, Switzerland)1 mentions
- 2019Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation.European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V1 mentions
- 2018Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].Molecular genetics and metabolism1 mentions
- 2018Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.JIMD reports1 mentions
- 2018Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.BMC medical genetics1 mentions
- 2016Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.Molecular genetics and metabolism1 mentions
- 2011Education and imaging. Hepatobiliary and pancreatic: Niemann-Pick disease.Journal of gastroenterology and hepatology1 mentions
- 2007Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.Journal of inherited metabolic disease1 mentions
- 2005Idiopathic nodular panniculitis in Niemann-Pick disease.Journal of the European Academy of Dermatology and Venereology : JEADV1 mentions
- 2004Preimplantation genetic diagnosis for Niemann-Pick disease type B.Prenatal diagnosis1 mentions
- 2002The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.American journal of human genetics1 mentions
- 2000Type A Niemann-Pick disease.Journal of the European Academy of Dermatology and Venereology : JEADV1 mentions
- 1990Prevalence of different types of lysosomal storage diseases in Saudi Arabia.Journal of inherited metabolic disease1 mentions