Autosomal recessive hyperinsulinism due to SUR1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
NESIDIOBLASTOSIS OF PANCREAS
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
HYPERINSULINISM, CONGENITAL
HHF1
PHHI
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Number of Symptoms 11
OrphanetNr: 79643
OMIM Id: 256450
ICD-10: E16.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Diazoxide-resistant diffuse hyperinsulinism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002173) Hypoglycemic seizures 19 / 7739
2
(HPO:0001325) Hypoglycemic coma 9 / 7739
3
(HPO:0000842) Hyperinsulinemia 39 / 7739
4
(HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
5
(HPO:0000819) Diabetes mellitus 131 / 7739
6
(HPO:0001520) Large for gestational age 34 / 7739
7
(HPO:0001943) Hypoglycemia 131 / 7739
8
(OMIM) Insulin deficiency (may develop later in life) 3 / 7739
9
(OMIM) Islet cell hyperplasia, diffuse 7 / 7739
10
(OMIM) Focal adenomatous hyperplasia of beta cells (uncommon) 3 / 7739
11
(OMIM) Mental retardation due to repeated episodes of hypoglycemia 6 / 7739

Associated genes:

ABCC8;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low ...
Clinical Description OMIM The term nesidioblastosis (meaning neoformation of islets of Langerhans from pancreatic duct epithelium) was coined by Laidlaw (1938) to describe the diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. 'Nesidio' comes ...
Genotype-Phenotype Correlations OMIM Kassem et al. (2010) reported a young girl with severe neonatal hypoglycemia due to a missense mutation in the GCK gene (138079.0015; see HHF3, 602485), in whom mean islet cell areas in both the head and the tail of ...
Molecular genetics OMIM In 16 affected individuals from 9 consanguineous families with hyperinsulinemic hypoglycemia, Thomas et al. (1995) identified homozygosity for 2 different splice site mutations in the sulfonylurea receptor gene ABCC8 (see 600509.0001 and 600509.0002).

In probands from 25 ...

Population genetics OMIM Bruining (1990) estimated that the incidence of PHHI is 1 in 50,000 live births in a randomly mating population. In a Saudi Arabian population in which 51% of births occurred to parents who were first or second cousins, Mathew ...