Cytoscape Web
Click node...

Hyperinsulinism-hyperammonemia syndrome
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Fibronectin glomerulopathy
Autosomal dominant hypohidrotic ectodermal dysplasia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Pseudohypoaldosteronism type 2E
Synonym(s):
- HI/HA syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLUD1 P00367138130
No signs/symptoms info available.