ALB, albumin, 213

N. diseases: 1198; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE This patient, who harbored the p.R218P mutation in the albumin gene, is the fifth case report of FDH in Japan. 27904073 2017
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
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
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
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
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 Biomarker disease BEFREE Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. 12743361 2003
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations. 14660816 2003
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE Recent studies have shown that the same mutation in the albumin gene that results in FDH has been found in 13 unrelated families. 12099390 2002
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
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
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE Our studies demonstrated that the point mutation of the albumin gene in a Chinese patient with FDH was similar to that found in western white families, but differed from that in a Japanese family in whom a guanine to cytosine transition at the same position was found. 10526251 1999
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease UNIPROT Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 9589637 1998
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
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
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
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. 8702585 1996
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 Biomarker disease BEFREE The free T4 estimate had been elevated artefactually by the increased affinity of FDH albumin for the analog in a one-step assay. 8548059 1995
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
Hyperthyroxinemia, Familial Dysalbuminemic
0.800 GeneticVariation disease BEFREE The slightly lower pI of the FDH-specific bands is consistent with the His for Arg substitution predicted by a G to A base transition recently reported in codon 218 of the gene for the variant albumin (Alb-FDH). 7852505 1995
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