Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERINSULINISM, NEONATAL HYPERINSULINISM, FAMILIAL NESIDIOBLASTOSIS HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY HYPERINSULINISM, CONGENITAL HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT PHHI HHF2 Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency |
| Number of Symptoms | 7 |
| OrphanetNr: | 276580 |
| OMIM Id: |
601820
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| ICD-10: |
E16.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Diazoxide-sensitive diffuse hyperinsulinism
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0000825) | Hyperinsulinemic hypoglycemia | 18 / 7739 | ||||
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(HPO:0000842) | Hyperinsulinemia | 39 / 7739 | ||||
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(HPO:0004510) | Pancreatic islet-cell hyperplasia | 9 / 7739 | ||||
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(HPO:0001520) | Large for gestational age | 34 / 7739 | ||||
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(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
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(OMIM) | Islet cell hyperplasia, diffuse | 7 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Nestorowicz et al. (1997) reported a Palestinian Arab boy, born of first-cousin parents, with severe hyperinsulinemic hypoglycemia diagnosed immediately after birth, which failed to respond to medical treatment with either diazoxide or the somatostatin analog, octreotide, and required ... |
| Molecular genetics OMIM |
Thomas et al. (1996) screened genomic DNA from members of 15 families with hyperinsulinemic hypoglycemia for mutations in the KCNJ11 gene. In a male infant with profound hypoglycemia, born of consanguineous Iranian parents, Thomas et al. (1996) identified ... |