Congenital enterocyte heparan sulfate deficiency

Orpha code: 103910OMIM code:

Definicja

A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.

Disease data
Klasyfikacja

Disease

Kod ORPHA
103910
Kod OMIM
-
Kod ICD10
P78.3
Kod ICD11
-

No additional description.

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