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EPG5 and cardiomyopathy are reported together in 3 articles.

Gene

EPG5

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

618articles

618mentions

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.

3 records shown · first 60

PMID 33120733 | PMCID PMC7581136 | DOI 10.1097/MD.0000000000022302 · Medicine · 2020 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.”	0.98	hgnc_dict_v1
phenotype	cardiomyopathy	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2
phenotype	neurodevelopmental disorder	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2

PMID 29983806 | PMCID PMC6026433 | DOI 10.3889/oamjms.2018.271 · Open access Macedonian journal of medical sciences · 2018 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5.”	0.98	hgnc_dict_v1
phenotype	cardiomyopathy	“The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts.”	0.98	phenotype_alias_lexicon_v2
phenotype	Gaucher disease	“CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“A Saudi Infant with Vici Syndrome: Case Report and Literature Review. Only 78 cases have been reported to date. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease.”	0.95	saudi_context_rules_v1

PMID 26917586 | PMCID PMC4766378 | DOI 10.1093/brain/awv393 · Brain : a journal of neurology · 2016 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5.”	0.98	hgnc_dict_v1
phenotype	cardiomyopathy	“In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).”	0.98	phenotype_alias_lexicon_v2
phenotype	neurodevelopmental disorder	“EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.”	0.93	phenotype_alias_lexicon_v2