ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (IGHD2)

Question 1

What is  ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (IGHD2)?

Accepted Answer

rare
autosomal dominant
mutations in the gene for growth hormone (GH1)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wachstumshormonmangel, isolierter, Typ II

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 173100

Question 4

Which enzymes are involved?

Accepted Answer

Somatotropin

Disease	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (IGHD2)
Synonym	IGHD II
OMIM	173100 OMIM = Online Mendelian Inheritance of Men
Orphanet	231679
Protein (UniProt)	Somatotropin
Gene locus	17q23.3
ICD	E23.0
Summary	rare autosomal dominant mutations in the gene for growth hormone (GH1)
Laboratory findings
Symptoms	dwarfism onset, childhood onset, infancy