isolated growth hormone deficiency type IB
Findings
No curated finding names isolated growth hormone deficiency type IB 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 low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
Definition from the Mondo Disease Ontology (MONDO:0013006), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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 response to growth hormone stimulation testHPOHP:0000824
- 5 of 5 reported patients
- MicropenisHPOHP:0000054
- 3 of 3 reported patients · Male
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 5 of 5 reported patients
- AcromicriaHPOHP:0031878
- 2 of 5 reported patients
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.
Where it sits
Other names
5 names
Resolves to: isolated growth hormone deficiency type IB
- Also called
- congenital IGHD type IBcongenital isolated GH deficiency type IBcongenital isolated growth hormone deficiency type IBdwarfism of Sindhgrowth hormone deficiency, isolated, type IB