ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

Question 1

What is  ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B?

Accepted Answer

rare

autosomal recessive

mutation in the GH1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612781

Question 3

Which enzymes are involved?

Accepted Answer

Somatotropin

Disease	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
Synonym	IGHD IB
OMIM	612781 OMIM = Online Mendelian Inheritance of Men
Orphanet	231671
Protein (UniProt)	Somatotropin
Gene locus	17q23.3
ICD	E23.0
Summary	rare autosomal recessive mutation in the GH1 gene
Laboratory findings	Insulin-like growth factor I(IGF-I) dec (urine)
Symptoms	growth retardation, poor growth onset, infancy onset, neonatal short stature