Autosomal dominant isolated somatotropin deficiency

Synonyms

Growth hormone deficiency, isolated autosomal dominant; IGHD II; Idiopathic Growth Hormone Deficiency Type II; Isolated Growth Hormone Deficiency, Type II; Isolated growth hormone deficiency type 2; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant

Modes of inheritance

Autosomal dominant inheritance

Autosomal dominant inheritance

MedGen UID: 141047, Concept ID: C0443147, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

(Orphanet)