Iron & Mineral Transport

Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing acrodermatitis enteropathica — a rare autosomal recessive disorder of severe zinc deficiency — when inherited in biallelic form

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Missense variant in ZIP4 zinc transporter causing total loss of intestinal zinc absorption when homozygous; responsible for classical acrodermatitis enteropathica

Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygosity causes acrodermatitis enteropathica, a rare but fully treatable zinc malabsorption disorder

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter, causing autosomal recessive acrodermatitis enteropathica — a treatable zinc malabsorption disorder

Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating a premature stop codon (p.Trp401Ter) that abolishes ZIP4 function and causes autosomal recessive acrodermatitis enteropathica when inherited biallelically; heterozygous carriers retain adequate zinc absorption under normal conditions but warrant monitoring during high-demand states

Pathogenic missense variant in the copper transporter ATP7B; heterozygous carriers are asymptomatic but can pass Wilson disease to children if their partner also carries an ATP7B pathogenic variant

Synonymous coding variant in transferrin receptor 2 with potential splice-modifying activity, associated with age-related macular degeneration in case-control studies via iron-mediated retinal oxidative stress

Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte parameters through the hepcidin-regulatory pathway

Intronic variant in transferrin receptor 2 that tags altered TFR2 expression and iron-sensing function in hepatocytes, associating with lower transferrin saturation and serum iron in the C-allele direction

Master regulator of iron absorption via hepcidin control — the strongest common genetic determinant of iron status