IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.140 Biomarker disease BEFREE Although IGSF1 loss has been noted in human hypothyroidism, this is the first reported phenotype in a family with copy number duplication in the region. 31762227 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.140 Biomarker disease BEFREE Based on a patient with a full deletion of IGSF1 clinically followed from neonate to adulthood, we investigated a common pituitary origin for hypothyroidism and macroorchidism, and the role of IGSF1 as regulator of pituitary hormone secretion. 28262687 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.140 GeneticVariation disease BEFREE Mutations of IGSF1 should therefore be considered in males with isolated hypopituitarism that includes TSH deficiency. 27146357 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.140 GeneticVariation disease BEFREE Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. 26302767 2015
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.140 Biomarker disease HPO