isolated growth hormone deficiency type IA

Term ID

DOID:0060873

Synonyms

• autosomal recessive isolated growth hormone deficiency
• IGHD IA
• Illig-type growth hormone deficiency
• pituitary dwarfism I
• primordial dwarfism
• sexual ateleiotic dwarfism

Definition

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (2)

References

• ICD10CM:E23.0
• OMIM:262400
• ORDO:231662

Ontology

Human Disease   ( DOID:0060873 )