LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.120 GeneticVariation disease BEFREE LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss. 21249393 2011
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.120 GeneticVariation disease BEFREE The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with cerebellar hypoplasia); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (IGHD). 12914740 2003
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
0.120 Biomarker disease HPO