HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4

Question 1

What is  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4?

Accepted Answer

rare
autosomal recessive
mutation in the TSHB gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Thyreoideastimulierendes Hormon-Mangel, isolierter; CHNG4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 275100

Question 4

Which enzymes are involved?

Accepted Answer

Thyrotropin subunit beta

Disease	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4
Synonym	THYROID-STIMULATING HORMONE DEFICIENCY; TSH DEFICIENCY
OMIM	275100 OMIM = Online Mendelian Inheritance of Men
Orphanet	90674
Protein (UniProt)	Thyrotropin subunit beta
Gene locus	1p13.2
ICD	E03.1
Summary	rare autosomal recessive mutation in the TSHB gene
Laboratory findings	Thyroid-stimulating hormone (TSH) normal/dec (serum)
Symptoms	growth retardation, poor growth hernia hoarse cry hypothyroidism hypotonia macroglossia, large/protuding tongue mental retardation omphalocele (exomphalos) onset, infancy onset, neonatal screaming or crying, abnormal