Amish, Mennonite, and Hutterite
Genetic Disorder Database

Thyroid Dyshormonogenesis 1

Disorder
OMIM #: #274400  (Click to access OMIM database)
Disorder: Thyroid Dyshormonogenesis 1 
Also known as: TDH1
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1, IODINE ACCUMULATION, TRANSPORT OR TRAPPING DEFECT 
Clinical
Phenotype: congenital hypothyroidism, growth deficiency, macroglossia, developmental delay/mental retardation, hernia, goiter, dry skin, lethargy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: SLC5A5
Base Change: G>A, at nucleotide 1183
Amino Acid Change: gly 395 --> arg
Last updated: 2018-07-20 

References
Couch RM, Dean HJ, and Winter JS. (1985) Congenital hypothyroidism caused by defective iodide transport. J Pediatr 106(6): 950-953.
PubMed ID: 3998954 
Kosugi S, Bhayana S, and Dean HJ. (1999) A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab 84(9): 3248-3253.
PubMed ID: 10487695 

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