ALB, albumin, 213

N. diseases: 1198; N. variants: 21
Disease: Hyperthyroxinemia, Familial Dysalbuminemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease CLINVAR
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease BEFREE (125)I-T4 binding to both serum and albumin in affected individuals was markedly increased, comparable with known familial dysalbuminemic hyperthyroxinemia cases. 24646103 2014
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. 10946882 2000
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE Familial dysalbuminaemic hyperthyroxinaemia is an important cause of discordant thyroid function test results (due to an inherited albumin variant); however, the diagnosis can be challenging. 26169058 2016
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease BEFREE Familial dysalbuminemic hyperthyroxinemia (FDH) is a syndrome associated with euthyroidism and increased binding of T4 to serum albumin. 8288714 1994
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia. 31582975 2019
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. 24494774 2014
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. 8064810 1994
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease CTD_human A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. 8064810 1994
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE A variant albumin was confirmed in both patients by a screening test for FDH and by reverse-flow electrophoresis. 3767254 1986
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. 29676214 2018
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease BEFREE Aspirin, salicylate, warfarin, and chloride, anions that have minimal stereochemical resemblance to the iodothyronines but bind to albumin cationic groups, inhibited T4 binding to FDH sera at concentrations that had little or no effect on binding in normal sera. 2370303 1990
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE DNA analysis of the patient revealed R218H, a mutation in the serum albumin gene associated with FDH, which was also present in the patient's euthyroid father and brother. 11743520 2001
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease BEFREE F = free; FDH = familial dysalbuminemic hyperthyroxinemia; HPLC = high-performance liquid chromatography; HSA = human serum albumin; PCR = polymerase chain reaction; SITSH = syndrome of inappropriate secretion of TSH; T = total; T3 = triiodothyronine; T4 = thyroxine; TSH = thyroid-stimulating hormone; WT = wild-type. 28816534 2017
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease UNIPROT Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 9589637 1998
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease BEFREE Here we show linkage between FDH and the albumin gene in a large Amish family of Swiss descent, using as markers a SacI polymorphism in the coding sequence of the albumin gene and the group-specific component (Gc) gene, located less than 1 centimorgan from the albumin gene. 7829599 1995
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE Here, we report a pregnant Japanese woman with FDH caused by the mutant albumin R218P. 15068631 2004
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. 27834068 2017
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease GENOMICS_ENGLAND Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. 27834068 2017
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease UNIPROT In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects. 9329347 1997
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease CTD_human In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects. 9329347 1997
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects. 9329347 1997
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease UNIPROT In every individual with FDH, the mutation was associated with the Sac I+ polymorphism in the albumin gene, strongly suggesting a founder effect. 8048949 1994
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 Biomarker disease CTD_human In every individual with FDH, the mutation was associated with the Sac I+ polymorphism in the albumin gene, strongly suggesting a founder effect. 8048949 1994
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 GeneticVariation disease BEFREE In this study a protein expression system was used to synthesize recombinant human serum albumin containing a mutation that has been shown to result in familial dysalbuminemic hyperthyroxinemia. 7575519 1995