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hyperthyroxinemia, familial dysalbuminemic

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014448:  hyperthyroxinemia, familial dysalbuminemic
MESH:D050010: 
NCIT:C131813: 
SCTID:237547004: