Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
Hyperinsulinism due to focal adenomatous hyperplasia (disorder) |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Structure of transplanted pancreatic islets |
Is a |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
Hypoinsulinemia following procedure (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
2 |
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
|
Pancreatic polypeptidoma |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
2 |
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism). |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
3 |
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
5 |
Hypoglycemia unawareness due to type 2 diabetes mellitus |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
3 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Hyperinsulinemia due to malignant insulinoma |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
2 |
hyperinsulinisme dû à un insulinome bénin |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
2 |
gastrinome du pancréas |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Alstrom syndrome |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
6 |
Metastatic carcinoma to endocrine pancreas (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Primary carcinoma of endocrine pancreas |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
2 |
Malignant glucagonoma of pancreas (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Primary malignant glucagonoma of pancreas |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Glucagonoma of uncertain behavior |
Finding site |
False |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Growth hormone releasing factor-secreting tumor of pancreas |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Gastric inhibitory peptide-secreting tumor of pancreas (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Parathyroid hormone-related peptide-secreting tumor of pancreas (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Familial hyperinsulinemic hypoglycaemia |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Diazoxide-resistant hyperinsulinism (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Diazoxide-sensitive diffuse hyperinsulinism |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Diazoxide-resistant diffuse hyperinsulinism |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |
Diazoxide-resistant focal hyperinsulinism (disorder) |
Finding site |
True |
Endocrine pancreatic structure |
Inferred relationship |
Some |
1 |