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PGAP3 and primary congenital glaucoma are reported together in 1 article.
Gene
PGAP3
- HGNC
- HGNC:23719
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
intellectual disability 3cleft lip and palate 2developmental delay 2epilepsy 1obesity 1primary congenital glaucoma 1
Reported variants (articles · ClinVar status)
Phenotype
Primary congenital glaucoma
70articles
70mentions
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
1 records shown · first 60Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
PMID 38558875 | PMCID PMC10981546 | DOI 10.1155/2024/3561555 · Case reports in genetics · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAP3 | “Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | cleft lip and palate | “Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.Ser107Leu | “Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4.” | 0.95 | hgvs_regex_v1 |