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SMPD1 and Niemann-Pick disease are reported together in 3 articles.
Gene
SMPD1
- HGNC
- HGNC:11120
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Niemann-Pick disease
21articles
21mentions
9co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.
PMID 38595885 | PMCID PMC11002711 | DOI 10.7759/cureus.55883 · Cureus · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMPD1 | “The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.” | 0.95 | saudi_context_rules_v1 |
Preimplantation genetic diagnosis for Niemann-Pick disease type B.
PMID 15612058 | DOI 10.1002/pd.1050 · Prenatal diagnosis · 2004 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMPD1 | “BACKGROUND: Acid sphingomyelinase (ASM) deficient Niemann-Pick disease (NPD) is an autosomal recessive disorder caused by mutations in the ASM gene (SMPD1).” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “Preimplantation genetic diagnosis for Niemann-Pick disease type B.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PGD | “Given the difficult management of the disease, we opted for a preventive approach to the suffering families by screening the whole SMPD1 gene for mutations followed by Preimplantation Genetic Diagnosis (PGD).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “NPD type B is the most common type in Saudi Arabia with a frequency of 1:40 000 to 1:100 000. The phenotype of Saudi Type B patients is more severe than patients reported from the West. Two mutations specific to Saudi patients have been inherited in the SMPD1 gene. CONCLUSIONS: This report reveals a new SMPD1 mutation responsible for similar Saudi severe phenotype, and the prevention of this disorder by PGD.” | 0.95 | saudi_context_rules_v1 |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
PMID 12369017 | PMCID PMC378582 | DOI 10.1086/345074 · American journal of human genetics · 2002 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMPD1 | “Mutation analysis of the acid sphingomyelinase (ASM) gene (designated "SMPD1") was performed on 228 patients (324 unique alleles), and several novel, "common" mutations were found.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We have collected demographic and/or mutation information on a worldwide sample of 394 patients with type B Niemann-Pick disease (NPD). Among these were the L137P, fsP189, and L549P mutations, which accounted for approximately 75% of the alleles in Turkish patients, the H421Y and K576N mutations, which accounted for approximately 85% of the alleles in Saudi Arabian patients, the S379P, R441X, R474W, and F480L mutations, which accounted for approximately 55% of the alleles in Portuguese/Brazilian patients, and the A196P mutation, which accounted for approximately 42% of the alleles in Scottish/English patients. In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | L137P | “Among these were the L137P, fsP189, and L549P mutations, which accounted for approximately 75% of the alleles in Turkish patients, the H421Y and K576N mutations, which accounted for approximately 85% of the alleles in Saudi Arabian patients, the S379P, R441X, R474W, and F480L mutations, which accounted for approximately 55% of the alleles in Portuguese/Brazilian patients, and the A196P mutation, which accounted for approximately 42% of the alleles in Scottish/English patients.” | 0.82 | literature_variant_regex_v2 |