Disease ID | Source | Name | Description |
616000 | OMIM | Analbuminemia (ANALBA) | A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. The disease is caused by variants affecting the gene represented in this entry. |
615999 | OMIM | Hyperthyroxinemia, familial dysalbuminemic (FDAH) | A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. The disease is caused by variants affecting the gene represented in this entry. |