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GLIS3 and primary congenital glaucoma are reported together in 4 articles.

Gene

GLIS3

11articles

11mentions

2variants with confirmed gene link

Most co-reported phenotypes (articles)

Reported variants (articles · ClinVar status)

Phenotype

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.

4 records shown · first 60

PMID 42327870 | PMCID PMC13278721 | DOI 10.14740/jmc5300 · Journal of medical cases · 2026 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	GLIS3	“A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.”	0.98	hgnc_dict_v1
phenotype	primary congenital glaucoma	“A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.”	0.93	phenotype_alias_lexicon_v2
gene	MEST	“Comprehensive imaging and histopathological analysis following a core needle biopsy diagnosed a benign multicystic nephroma with features of a mixed epithelial and stromal tumor (MEST).”	0.98	hgnc_dict_v1
phenotype	diabetes mellitus	“A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.”	0.98	phenotype_alias_lexicon_v2

PMID 40583116 | DOI 10.1080/13816810.2025.2514526 · Ophthalmic genetics · 2025 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	GLIS3	“Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.”	0.98	hgnc_dict_v1
phenotype	primary congenital glaucoma	“Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.”	0.93	phenotype_alias_lexicon_v2
phenotype	diabetes mellitus	“METHODS: We present a case report of two Saudi Arabian siblings with congenital glaucoma, congenital diabetes mellitus, and congenital hypothyroidism.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“METHODS: We present a case report of two Saudi Arabian siblings with congenital glaucoma, congenital diabetes mellitus, and congenital hypothyroidism.”	0.95	saudi_context_rules_v1

PMID 28253873 | PMCID PMC5335837 | DOI 10.1186/s12902-017-0160-z · BMC endocrine disorders · 2017 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	GLIS3	“BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date.”	0.98	hgnc_dict_v1
phenotype	primary congenital glaucoma	“Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.”	0.93	phenotype_alias_lexicon_v2
phenotype	developmental delay	“Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.”	0.98	phenotype_alias_lexicon_v2
phenotype	diabetes mellitus	“BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date.”	0.93	phenotype_alias_lexicon_v2

PMID 27148679 | DOI 10.1002/ajmg.a.37680 · American journal of medical genetics. Part A · 2016 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	GLIS3	“An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).”	0.98	hgnc_dict_v1
phenotype	primary congenital glaucoma	“Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys.”	0.93	phenotype_alias_lexicon_v2
phenotype	diabetes mellitus	“Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys.”	0.95	saudi_context_rules_v1