isolated growth hormone deficiency type IA
Findings
No curated finding names isolated growth hormone deficiency type IA yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009876), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 1 of 1 reported patient
- Depressed nasal ridgeHPOHP:0000457
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Persistent open anterior fontanelleHPOHP:0004474
- 1 of 1 reported patient
- Prolonged neonatal jaundiceHPO
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GH1HGNC:4261
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- RNPC3HGNC:18666
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: isolated growth hormone deficiency type IA
- Also called
- congenital IGHD type IAcongenital isolated GH deficiency type IAcongenital isolated growth hormone deficiency type IAgrowth hormone deficiency, isolated, type IAIllig-type growth hormone deficiencyprimordial dwarfismsexual ateleiotic dwarfism