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ALDH7A1 and intellectual disability are reported together in 3 articles.
Gene
ALDH7A1
- HGNC
- HGNC:877
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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
3 records shown · first 60Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
PMID 39763688 | PMCID PMC11701133 | DOI 10.3389/fpsyt.2024.1501238 · Frontiers in psychiatry · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH7A1 | “Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.” | 0.98 | phenotype_alias_lexicon_v2 |
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
PMID 37393059 | DOI 10.1016/j.gene.2023.147599 · Gene · 2023 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH7A1 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “RESULTS: Clinical investigations determined that developmental delay, intellectual disability and seizures were manifested by most patients in early childhood.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | OCLN | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| gene | IQSEC2 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
PMID 22728861 | DOI 10.1017/s0317167100014050 · The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH7A1 | “Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “As adults, despite the same genetic background and early treatment with pyridoxine, their degree of intellectual disability (ID) differed widely.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Variability of phenotype in two sisters with pyridoxine dependent epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Although epilepsy was well controlled upon treatment with pyridoxine, thiamine, phenytoin and carbamazepine since early infancy, both had developmental delay with prominent speech delay as children.” | 0.98 | phenotype_alias_lexicon_v2 |