THYROID HORMONE METABOLISM, ABNORMAL (THMA)

Question 1

What is  THYROID HORMONE METABOLISM, ABNORMAL (THMA)?

Accepted Answer

very rare

autosomal recessive

mutation in the SECISBP2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 609698

Question 3

Which enzymes are involved?

Accepted Answer

Selenocysteine insertion sequence-binding protein 2

Disease	THYROID HORMONE METABOLISM, ABNORMAL (THMA)
OMIM	609698 OMIM = Online Mendelian Inheritance of Men
Orphanet	171706
Protein (UniProt)	Selenocysteine insertion sequence-binding protein 2
Gene locus
ICD	E03.1
Summary	very rare autosomal recessive mutation in the SECISBP2 gene
Laboratory findings	Selenium decreased (serum) Thyroxine (T4) inc (serum) Triiodothyronine (T3) dec (serum)
Symptoms	bone age, delayed developmental delay growth retardation, poor growth onset, childhood short stature