acid-labile subunit deficiency
ORPHA: 140941
Overview
hereditary disease of the endocrine system
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acid-labile subunit deficiency, sourced from HPO and Orphanet clinical annotations.
MicrognathiaDelayed pubertyDelayed skeletal maturationInsulin resistanceGrowth delayTruncal obesityDecreased circulating serum insulin-like growth factor 1 concentration
Classification & Codes
Orphanet Code
ORPHA:140941acid-labile subunit deficiency
| Orphanet | ORPHA:140941 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO