congenital enterocyte heparan sulfate deficiency
ORPHA: 103910
Overview
Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life
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 congenital enterocyte heparan sulfate deficiency, sourced from HPO and Orphanet clinical annotations.
Weight lossDiarrheaProtein-losing enteropathyHypoalbuminemiaAbnormal circulating polysaccharide concentrationEdemaDehydrationHematocheziaAbdominal distentionAbnormal circulating protein concentration
Classification & Codes
Orphanet Code
ORPHA:103910congenital enterocyte heparan sulfate deficiency
| Orphanet | ORPHA:103910 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO