Hyperinsulinemic hypoglycemia of infancy
| Disorder | |
|---|---|
| OMIM #: | #256450 (Click to access OMIM database) |
| Disorder: | Hyperinsulinemic hypoglycemia of infancy |
| Also known as: | ERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY PHHI HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA NESIDIOBLASTOSIS OF PANCREAS HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS HYPERINSULINISM, CONGENITAL |
| Clinical | |
| Phenotype: | persistent hypoglycemia, hyperinsulinemia, islet cell hyperplasia; seizures, developmental delay, loss of consciousness due to hypoglycemia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant/recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ABCC8 |
| Base Change: | C>T, at nucleotide 2995 |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
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