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IFIH1 and developmental delay are reported together in 2 articles.
Gene
IFIH1
- HGNC
- HGNC:18873
8articles
8mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
developmental delay 2COVID-19 1MERS 1epilepsy 1intellectual disability 1primary congenital glaucoma 1rheumatoid arthritis 1systemic lupus erythematosus 1
Reported variants (articles · ClinVar status)
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 60Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.
PMID 38976295 | DOI 10.55563/clinexprheumatol/aa6drm · Clinical and experimental rheumatology · 2024 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFIH1 | “Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Despite these interventions, a partial response to treatment was observed, and cumulative disease damage primarily manifested as growth failure and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RNASEH2A | “Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes.” | 0.98 | hgnc_dict_v1 |
| gene | RNASEH2C | “Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes.” | 0.98 | hgnc_dict_v1 |
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
PMID 29239743 | DOI 10.1016/j.pediatrneurol.2017.09.002 · Pediatric neurology · 2018 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFIH1 | “Homozygous mutations were identified in RNASEH2B (54.2%), RNASEH2A (20.8%), RNASEH2C (8.3%), SAMHD1 (8.3%), TREX1 (4.2%), and heterozygous mutations in IFIH1 (4.2%), with c.356A>G (p.Asp119Gly) in RNASEH2B being the most frequent mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Patients presented with developmental delay (24 cases, 100%); spasticity (24 cases, 100%); speech delay (23 cases, 95.8%); profound intellectual disability (21 cases, 87.5%); truncal hypotonia (21 cases, 87.5%); seizures (eighteen cases, 75%); and epileptic encephalopathy (15 cases, 62.5%).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RNASEH2B | “Homozygous mutations were identified in RNASEH2B (54.2%), RNASEH2A (20.8%), RNASEH2C (8.3%), SAMHD1 (8.3%), TREX1 (4.2%), and heterozygous mutations in IFIH1 (4.2%), with c.356A>G (p.Asp119Gly) in RNASEH2B being the most frequent mutation.” | 0.98 | hgnc_dict_v1 |
| gene | RNASEH2A | “Homozygous mutations were identified in RNASEH2B (54.2%), RNASEH2A (20.8%), RNASEH2C (8.3%), SAMHD1 (8.3%), TREX1 (4.2%), and heterozygous mutations in IFIH1 (4.2%), with c.356A>G (p.Asp119Gly) in RNASEH2B being the most frequent mutation.” | 0.98 | hgnc_dict_v1 |