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loading...| Preferred Name |
Congenital hyperinsulinism due to HNF4A deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_263455 |
| alternative_term |
Hyperinsulinemic hypoglycemia due to HNF4A deficiency |
| definition |
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:E16.1 |
| label |
Congenital hyperinsulinism due to HNF4A deficiency |
| notation |
ORPHA:263455 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_263455 |
| prefLabel |
Congenital hyperinsulinism due to HNF4A deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_263455 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI |