IGSF3, immunoglobulin superfamily member 3, 3321

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835612
Disease: LACRIMAL DUCT DEFECT
LACRIMAL DUCT DEFECT 		0.400 GermlineCausalMutation phenotype ORPHANET Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. 24372406 2014
CUI: C1835612
Disease: LACRIMAL DUCT DEFECT
LACRIMAL DUCT DEFECT 		0.400 CausalMutation phenotype CLINVAR
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		0.300 GermlineCausalMutation phenotype ORPHANET Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. 24372406 2014
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		0.300 GermlineCausalMutation disease ORPHANET Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. 24372406 2014
CUI: C0022906
Disease: Lacrimal Duct Obstruction
Lacrimal Duct Obstruction 		0.300 Biomarker disease CTD_human
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.100 Biomarker disease HPO
CUI: C0155241
Disease: Lacrimal mucocele
Lacrimal mucocele 		0.100 Biomarker disease HPO
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		0.100 Biomarker disease HPO
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		0.010 Biomarker disease BEFREE Three patients relapsed within 21.5 months, and 3 progressed: 1 to multiple myeloma, 1 to systemic amyloidosis and another to systemic LCDD. 31825549 2019
CUI: C0281479
Disease: Primary Systemic Amyloidosis
Primary Systemic Amyloidosis 		0.010 Biomarker disease BEFREE Three patients relapsed within 21.5 months, and 3 progressed: 1 to multiple myeloma, 1 to systemic amyloidosis and another to systemic LCDD. 31825549 2019
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		0.010 Biomarker disease BEFREE The patient was diagnosed as FS induced osteomalacia secondary to monoclonal gammopathy of renal significance (MGRS) (IgA-κ type) and LCDD. 30200082 2018
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		0.010 Biomarker disease BEFREE Although few cases of LCDD with isolated symptoms of tubulointerstitial nephropathy, rather than glomerular symptoms have been reported. 30200082 2018
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		0.010 Biomarker disease BEFREE The patient was diagnosed as FS induced osteomalacia secondary to monoclonal gammopathy of renal significance (MGRS) (IgA-κ type) and LCDD. 30200082 2018
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		0.010 Biomarker disease BEFREE Although few cases of LCDD with isolated symptoms of tubulointerstitial nephropathy, rather than glomerular symptoms have been reported. 30200082 2018
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		0.010 GeneticVariation disease BEFREE We reported a rare case of adult acquired FS with hypophosphatemic osteomalacia secondary to LCDD associated with MGRS and the patient was successfully treated with bortezomib. 30200082 2018
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies 		0.010 Biomarker group BEFREE The patient was diagnosed as FS induced osteomalacia secondary to monoclonal gammopathy of renal significance (MGRS) (IgA-κ type) and LCDD. 30200082 2018
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		0.010 Biomarker disease BEFREE The patient was diagnosed as FS induced osteomalacia secondary to monoclonal gammopathy of renal significance (MGRS) (IgA-κ type) and LCDD. 30200082 2018
CUI: C4727947
Disease: Hypophosphataemic osteomalacia
Hypophosphataemic osteomalacia 		0.010 GeneticVariation disease BEFREE We reported a rare case of adult acquired FS with hypophosphatemic osteomalacia secondary to LCDD associated with MGRS and the patient was successfully treated with bortezomib. 30200082 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Biochemical experiments demonstrate that, in the developing brain, IGSF3 is in a complex with the tetraspanin TSPAN7, a membrane protein mutated in several forms of X-linked intellectual disabilities. 27328461 2017