Amish, Mennonite, and Hutterite
Genetic Disorder Database

Familial dysalbuminemic hyperthyroxinemia

Disorder
OMIM #: #615999  (Click to access OMIM database)
Disorder: Familial dysalbuminemic hyperthyroxinemia 
Also known as: FDH, EUTHYROID HYPERTHYROXINEMIA 1 
Clinical
Phenotype: elevated serum thyroxine, elevated free-thyroxine index, hyperthyroidism refractory to treatment 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: OMIM *103600 
Mutations
1     
Gene: ALB
Base Change:
Amino Acid Change:
Last updated: 2017-08-09 

References
Weiss RE, Sunthornthepvarakul T, Angkeow P, Marcus-Bagley D, Cox N, Alper CA, Refetoff S.. (1995) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.. J Clin Endocrinol Metab 116-121.
PubMed ID: 7829599 

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