growth hormone insensitivity with immune dysregulation 1, autosomal recessive
MONDO:0100211Mondo
Findings
No curated finding names growth hormone insensitivity with immune dysregulation 1, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient · Infantile onset
- Lymphocytic interstitial pneumoniaHPOHP:0006527
- 1 of 1 reported patient · Childhood onset
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- Severe short statureHPOHP:0003510
- 1 of 1 reported patient
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Very frequent (80% to 99% of cases)
- Severe postnatal growth retardationHPOHP:0008850
- Very frequent (80% to 99% of cases)
- Chronic lung diseaseHPOHP:0006528
- Frequent (30% to 79% of cases)
- Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentrationHPOHP:0045046
- Frequent (30% to 79% of cases)
Reported absent (1)
- Reduced circulating growth hormone concentrationHPOHP:0034323
Show the remaining 19
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- Hashimoto thyroiditisHPOHP:0000872
- Frequent (30% to 79% of cases)
- Increased circulating prolactin concentrationHPOHP:0000870
- Frequent (30% to 79% of cases)
- Marked delay in bone ageHPOHP:0003799
- Frequent (30% to 79% of cases)
- Pulmonary fibrosisHPOHP:0002206
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- STAT5BHGNC:11367
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Also called
- growth hormone insensitivity due to postreceptor defectLaron syndrome due to postreceptor defectLaron syndrome with immunodeficiencyLaron-like syndromeshort stature due to STAT5b deficiency