rs75002628

This is a variant in the ALB gene that changes a arginine to an proline.

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ClinVar annotation

Pathogenic
1 submitter18 publications

Hyperthyroxinemia, familial dysalbuminemic (FDAH)

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Research that mentions this SNP (2)

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Relationship between arginase genes polymorphisms and preschool wheezing phenotypes
OtherPinar Gokmirza Ozdemir et al.(2021)· Pediatric Pulmonology

This is a 2025 conference proceedings from the 6th Ege Endocrinology and Genetics Symposium containing 107 abstracts of case reports and clinical studies. Papers describe genetic endocrine disorders including thyroid hormone resistance (THRB variants, rs60864230), familial dysalbuminemic hyperthyroxinemia (ALB rs750002628), skeletal dysplasias (NPR2, CLCN7), growth disorders, gonadal dysgenesis, lipodystrophy, obesity syndromes, and metabolic disorders. Multiple studies reported novel and rare genetic variants with clinical phenotype-genotype correlations.

Traits studied:46,XY gonadal dysgenesisAcrodysostosisCongenital hypothyroidismEndocrine disordersFamilial dysalbuminemic hyperthyroxinemiaGrowth disordersLipodystrophyMetabolic disordersObesityOsteopetrosisShort statureSkeletal dysplasiaThyroid hormone resistance-β
PubMedDOIMetascience Observatory
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An Identical Missense Mutation in the Albumin Gene Results in Familial Dysalbuminemic Hyperthyroxinemia in Eight Unrelated Families
Case reportSunthornthepvarakul T. et al.(1994)· Biochemical and Biophysical Research Communications

Case report of a 24-year-old Afghan woman presenting with thyrotoxicosis who was diagnosed with Graves' disease but also found to carry familial dysalbuminemic hyperthyroxinemia (FDH) caused by the ALB c.725G>A (p.Arg242His) variant. The variant causes discordant thyroid function tests with elevated T4 but normal or only mildly elevated FT3, complicating clinical diagnosis. The patient's daughter also inherited the variant.

Traits studied:Familial dysalbuminemic hyperthyroxinemia (FDH)Graves' diseaseThyrotoxicosis
PubMedDOIMetascience Observatory

About ALB

This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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