hyperthyroxinemia, familial dysalbuminemic
Findings
No curated finding names hyperthyroxinemia, familial dysalbuminemic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.
Definition from the Mondo Disease Ontology (MONDO:0014448), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Euthyroid hyperthyroxinemiaHPOHP:0008247
- 3 of 3 reported patients
- Increased circulating free T4 concentrationHPOHP:0033077
- 1 of 1 reported patient
- Abnormal circulating free T4 concentrationHPOHP:0033076
- 0 of 2 reported patients
- Abnormal circulating thyroid-stimulating hormone concentrationHPOHP:0031097
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALBHGNC:399
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: hyperthyroxinemia, familial dysalbuminemic
- Also called
- bisalbuminemiadysalbuminemic hyperthyroxinemiadysalbuminemic hypertriiodothyroninemiafamilial Dysalbuminemic hyperthyroidismfamilial Dysalbuminemic hyperthyroxinemia