IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. 26302767 2015
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND The IGSF1 deficiency syndrome: characteristics of male and female patients. 24108313 2013
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 GeneticVariation disease UNIPROT Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease MGD Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 CausalMutation disease CLINVAR
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease CTD_human
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease MGD Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease CTD_human Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE Human loss-of-function mutations in IGSF1 cause central hypothyroidism, hypoprolactinemia, and macroorchidism. 31650157 2020
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 AlteredExpression disease BEFREE The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways. 28262687 2017
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 Biomarker disease BEFREE Collectively, these results indicate that impairments in pituitary TRH receptor expression and/or downstream signaling underlie central hypothyroidism in IGSF1 deficiency syndrome. 28324000 2017
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE Mutations in the immunoglobulin superfamily, member 1 gene (IGSF1/Igsf1) cause an X-linked form of central hypothyroidism. 28686733 2017
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE Mutations of IGSF1 should therefore be considered in males with isolated hypopituitarism that includes TSH deficiency. 27146357 2016
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 Biomarker disease BEFREE IGSF1 deficiency represents the most common genetic cause of central hypothyroidism and is associated with multiple other characteristics. 26840047 2016
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE Pathogenic mutations in the IGSF1 gene (on Xq26.2) are associated with X-linked central hypothyroidism and testicular enlargement in males. 25527509 2015
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE As this syndrome was discovered in patients with CeH, it is unknown whether IGSF1 mutations might also cause delayed puberty without CeH. 25354429 2015
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 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: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 Biomarker disease BEFREE Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. 24108313 2013
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 Biomarker disease GENOMICS_ENGLAND In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight. 24108313 2013
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.400 GeneticVariation disease BEFREE Collectively, our observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling. 23143598 2012
CUI: C0271586
Disease: Prolactin Deficiency, Isolated
Prolactin Deficiency, Isolated 		0.300 Biomarker phenotype GENOMICS_ENGLAND In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight. 24108313 2013
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		0.300 Biomarker disease GENOMICS_ENGLAND The IGSF1 deficiency syndrome: characteristics of male and female patients. 24108313 2013
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.300 Biomarker disease GENOMICS_ENGLAND The IGSF1 deficiency syndrome: characteristics of male and female patients. 24108313 2013