HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22
Disease: Septo-Optic Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909173
rs121909173
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.710 GeneticVariation UNIPROT A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. 26781211 2016
dbSNP: rs121909173
rs121909173
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.710 GeneticVariation BEFREE The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple hypopituitarism, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical SOD phenotype. 18852528 2008
dbSNP: rs121909173
rs121909173
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.710 GeneticVariation UNIPROT A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. 14561704 2003
dbSNP: rs121909173
rs121909173
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease:
Septo-Optic Dysplasia 		0.710 GeneticVariation UNIPROT Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. 11136712 2001