short stature due to primary acid-labile subunit deficiency
Findings
No curated finding names short stature due to primary acid-labile subunit deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.
Definition from the Mondo Disease Ontology (MONDO:0014420), read 2026-09-29. CC BY 4.0.
Features
11 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-binding protein acid labile subunit concentrationHPOHP:0045046
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Moderate postnatal growth retardationHPOHP:0008855
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- 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.
- IGFALSHGNC:5468
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: short stature due to primary acid-labile subunit deficiency
- Also called
- acid-labile subunit, deficiency of