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GNPTAB and developmental delay are reported together in 2 articles.
Gene
GNPTAB
- HGNC
- HGNC:29670
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
12co-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
2 records shown · first 60Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
PMID 34342781 | PMCID PMC8333150 | DOI 10.1186/s43141-021-00204-4 · Journal, genetic engineering & biotechnology · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GNPTAB | “Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Affected patients are characterized by skeletal deformities and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “BACKGROUND: Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “ML II diagnosis established by clinical assessment, biochemical evaluation of enzymes, electron microscopy examination of gingival inclusion bodies, and molecular study of GNPTAB gene using targeted next-generation sequencing panel in 8 patients form 8 unrelated Egyptian families. All patients were homozygous for their corresponding mutations and the parents were consanguineous.” | 0.80 | saudi_context_rules_v1 |
Mucolipidosis II: first report from Saudi Arabia.
PMID 24060719 | PMCID PMC6078501 | DOI 10.5144/0256-4947.2013.382 · Annals of Saudi medicine · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GNPTAB | “RESULTS: The MLII diagnosis was confirmed by assaying enzyme activities in fibroblasts, which showed a severe reduction in hydrolyzed substrates compared to controls, and by identifying a pathogenic homozygous GNPTAB gene mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “BACKGROUND AND OBJECTIVES: Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “One of the children died at 2 months of age due to severe pulmonary hypertension, and the other two children were still alive at 12 months and 18 months of age, respectively.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Mucolipidosis II: first report from Saudi Arabia. DESIGN AND SETTINGS: This is a case series study conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2008-2012. PATIENTS AND METHODS: We described three unrelated Saudi children who presented with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities.” | 0.95 | saudi_context_rules_v1 |