Hyperinsulinism, Focal malady

MalaCards: Hyperinsulinism, Focal, also known as hyperinsulinism, is related to hyperinsulinism and persistent hyperinsulinemic hypoglycemia of infancy. An important gene associated with Hyperinsulinism, Focal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Inwardly rectifying K+ channels and Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics. The compounds cibenzoline and mgadp have been mentioned in the context of this disorder.

hyperinsulinism, focal 30 hyperinsulinism 43

Diseases related to hyperinsulinism, focal by text searches and GeneDecks gene sharing:

(show all 49)

id	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinism	36.4	KCNJ11, ABCC8
2	persistent hyperinsulinemic hypoglycemia of infancy	32.5	ABCC8, KCNJ11
3	acute insulin response	29.2	KCNJ11, ABCC8
4	hypoglycemia	28.3	ABCC8, KCNJ11
5	hyperinsulinemic hypoglycemia	26.4	KCNJ11, ABCC8
6	diabetes, permanent neonatal	12.5	KCNJ11, ABCC8
7	leucine-sensitive hypoglycemia of infancy	12.5	KCNJ11, ABCC8
8	pancreatic agenesis	12.5	ABCC8, KCNJ11
9	permanent neonatal diabetes mellitus	12.5	KCNJ11, ABCC8
10	transient neonatal diabetes mellitus	12.5	ABCC8, KCNJ11
11	hypoglycemia of infancy	12.5	ABCC8, KCNJ11
12	neonatal diabetes mellitus	12.5	KCNJ11, ABCC8
13	diabetes, type 2	12.5	KCNJ11, ABCC8
14	hyperammonemia with hypoornithinemia	12.4	ABCC8, KCNJ11
15	recessive developmental delay, small stature, microcephaly and brain calcifications	12.4	KCNJ11, ABCC8
16	beckwith-wiedemann syndrome	12.4	KCNJ11, ABCC8
17	glucose intolerance	12.4	ABCC8, KCNJ11
18	gestational diabetes	12.3	KCNJ11, ABCC8
19	insulinoma	12.2	KCNJ11, ABCC8
20	epilepsy syndrome	12.2	KCNJ11, ABCC8
21	type 2 diabetes mellitus	12.1	KCNJ11, ABCC8
22	hyperglycemia	12.0	KCNJ11, ABCC8
23	bartter disease	11.8	KCNJ11, ABCC8
24	hyperinsulinism-hyperammonemia syndrome	9.1
25	obesity	8.4
26	insulin resistance	8.2
27	pancreatitis	8.0
28	polycystic ovary syndrome	7.5
29	hypertension	7.0
30	glud1-related hyperinsulinism	7.0
31	abcc8-related hyperinsulinism	6.6
32	diabetes mellitus	6.6
33	familial hyperinsulinism multi-gene panels	6.6
34	gck-related hyperinsulinism	6.6
35	hadh-related hyperinsulinism	6.6
36	hyperandrogenism	6.6
37	hyperinsulinism due to glucokinase deficiency	6.6
38	hyperinsulinism due to glutamodehydrogenase deficiency	6.6
39	hyperinsulinism, diffuse	6.6
40	kcnj11-related hyperinsulinism	6.6
41	11p15-p14 deletion syndrome	6.1
42	3-hydroxyacyl-coa dehydrogenase deficiency	6.1
43	hnf4a-related hyperinsulinism	6.1
44	hepatitis	6.1
45	congenital central hypoventilation syndrome	5.2
46	central hypoventilation syndrome	5.2
47	glycogen storage disease	5.2
48	hyperlipoproteinemia	5.2
49	ovarian disease	5.2

Approved drugs:

Drug clinical trials:

Articles related to hyperinsulinism, focal:

id	Title	Authors	Year	Affiliating Genes
1	Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. (9769320)	Verkarre V.... Junien C.	1998	ABCC8, KCNJ11
2	Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. (10189991)	Fournet J.C.... Junien C.	1998	ABCC8, KCNJ11

Genes related to hyperinsulinism, focal according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KCNJ11	potassium inwardly-rectifying channel, subfamily J, member 11	11.0	Publications
2	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	11.0	Publications

Pathways related to hyperinsulinism, focal according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Inwardly rectifying K+ channels38	9.3	ABCC8, KCNJ11
2	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics34	9.2	KCNJ11, ABCC8
3	Type II diabetes mellitus20	9.2	ABCC8, KCNJ11
4	Potassium transporters- outward current10	9.1	KCNJ11, ABCC8
5	Antiarrhythmic Pathway, Pharmacodynamics34	9.1	KCNJ11, ABCC8
6	Development_Leptin signaling via PI3K-dependent pathway41	9.0	ABCC8, KCNJ11
7	Development Leptin signaling via PI3K-dependent pathway10	8.8	ABCC8, KCNJ11

Compounds related to hyperinsulinism, focal according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	cibenzoline32	9.5	ABCC8, KCNJ11
2	mgadp32	9.5	ABCC8, KCNJ11
3	repaglinide32 42 9 9	12.4	KCNJ11, ABCC8
4	glimepiride32 34 9 9	12.4	ABCC8, KCNJ11
5	gliclazide32 34 9 9	12.4	KCNJ11, ABCC8
6	nateglinide32 42 9 9	12.4	ABCC8, KCNJ11
7	Glyburide9 9	10.4	ABCC8, KCNJ11
8	diazoxide32 42 9 9	12.4	ABCC8, KCNJ11
9	sulfonylurea32	9.4	ABCC8, KCNJ11
10	katp32	9.4	KCNJ11, ABCC8
11	tolbutamide32 34 9 9	12.3	KCNJ11, ABCC8
12	glibenclamide32 34	10.3	ABCC8, KCNJ11
13	metformin32 34 9 9	12.3	KCNJ11, ABCC8
14	pip232	9.2	ABCC8, KCNJ11
15	potassium32 9 18 9	12.2	ABCC8, KCNJ11
16	lysine32	9.1	ABCC8, KCNJ11
17	magnesium32 9 18 9	12.1	ABCC8, KCNJ11
18	aspartate32	9.0	ABCC8, KCNJ11
19	leucine32	8.8	KCNJ11, ABCC8

Cellular components related to hyperinsulinism, focal according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel complex	GO:008076	9.1	KCNJ11, ABCC8

Biological processes related to hyperinsulinism, focal according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:071805	9.1	KCNJ11, ABCC8
2	synaptic transmission	GO:007268	9.1	KCNJ11, ABCC8
3	regulation of insulin secretion	GO:050796	9.0	KCNJ11, ABCC8
4	energy reserve metabolic process	GO:006112	8.8	KCNJ11, ABCC8

Molecular functions related to hyperinsulinism, focal according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:044325	9.1	KCNJ11, ABCC8