Hypoglycemia of Infancy malady

MalaCards: Hypoglycemia of Infancy, also known as hypoglycemia, is related to persistent hyperinsulinemic hypoglycemia of infancy and hyperinsulinemic hypoglycemia. An important gene associated with Hypoglycemia of Infancy is ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8), and among its related pathways are Inwardly rectifying K+ channels and Potassium transporters- outward current. The drugs glucose and glucagon and the compounds mgadp and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include pancreatic islet, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

hypoglycemia of infancy 7 hypoglycemia 43

Diseases related to hypoglycemia of infancy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 287)

id	Related Disease	Score	Top Affiliating Genes
1	persistent hyperinsulinemic hypoglycemia of infancy	35.9	GCK, KCNJ11, GLUD1, ABCC8, HADH
2	hyperinsulinemic hypoglycemia	34.5	INS, IGF2, SST, ABCC8
3	leucine-sensitive hypoglycemia of infancy	32.2	GCK, KCNJ11, GLUD1, ABCC8
4	hemangiopericytoma	29.3	VIM, IGF2, SST
5	hypoglycemia	28.6	GCK, SEL1L, VIM, KCNJ11, KCNJ5, INS
6	maturity-onset diabetes of the young	28.1	GCK, KCNJ11, INS, PDX1
7	insulin autoimmune syndrome	28.0	INS, INSR
8	hyperinsulinism-hyperammonemia syndrome	28.0	KCNJ5, INS, GLUD1
9	gastrointestinal stromal tumor	27.9	VIM, ENO2, IGF2, GLUD1
10	glucose intolerance	27.8	GCK, KCNJ11, INS, INSR, ABCC8
11	diabetes mellitus	27.6	GCK, SEL1L, KCNJ11, KCNJ5, INS, INSR
12	type 1 diabetes mellitus	27.3	GCK, INS, INSR, ENO2, IGF2, SST
13	neuroendocrine tumor	27.3	ENO2, SST, KRT19
14	meninges hemangiopericytoma	27.3	VIM, IGF2
15	hyperglycemia	27.1	GCK, KCNJ11, INS, INSR, SST, PDX1
16	beckwith-wiedemann syndrome	26.7	KCNJ11, INS, IGF2, SST, ABCC8
17	malignant fibrous histiocytoma	26.5	VIM, ENO2, IGF2
18	somatostatinoma	26.3	ENO2, SST
19	insulin resistance	26.2	GCK, KCNJ11, INS, INSR, IGF2, GLUD1
20	large cell carcinoma	25.9	ENO2, IGF2, KRT19
21	dumping syndrome	25.8	INS, SST
22	anorexia nervosa	25.6	VIM, INS, INSR, IGF2, SST
23	laron syndrome	25.4	INS, IGF2
24	type 2 diabetes mellitus	25.2	GCK, KCNJ11, KCNJ5, INS, INSR, PDX1
25	hypoxia	25.2	SEL1L, KCNJ11, KCNJ5, INS, INSR, IGF2
26	pancreatic islet cell tumors	25.2	INS, IGF2, SST
27	teratoma	25.2	VIM, ENO2, SST
28	gestational diabetes	24.8	GCK, KCNJ11, INS, INSR, ABCC8
29	leiomyosarcoma	24.8	VIM, INSR, ENO2, IGF2
30	hyperinsulinism	24.8	GCK, KCNJ11, KCNJ5, INS, INSR, IGF2
31	fibrosarcoma	24.7	VIM, INSR, IGF2, PDX1
32	carcinoma	24.6	GCK, SEL1L, VIM, INS, INSR, ENO2
33	duodenitis	24.5	GCK, INS, ENO2, SST, PDX1
34	acute myocardial infarction	24.5	KCNJ11, KCNJ5, INS, GLUD1
35	growth hormone deficiency	24.4	INS, INSR, IGF2, SST
36	acromegaly	24.4	INS, INSR, IGF2, SST
37	insulinoma	24.4	GCK, KCNJ11, KCNJ5, INS, INSR, IGF2
38	myotonic dystrophy	24.3	VIM, INS, INSR, ENO2
39	renal cell carcinoma	24.2	VIM, INSR, ENO2, KRT19
40	myocardial infarction	24.1	KCNJ11, KCNJ5, INS, INSR, GLUD1, PDX1
41	pancreatitis	23.8	GCK, SEL1L, VIM, KCNJ11, KCNJ5, INS
42	meningioma	23.5	VIM, INSR, ENO2, IGF2, SST, KRT19
43	diabetic retinopathy	23.5	VIM, INS, INSR, IGF2, SST
44	obesity	23.3	GCK, KCNJ11, KCNJ5, INS, INSR, IGF2
45	ischemia	23.2	GCK, VIM, KCNJ11, KCNJ5, INS, INSR
46	hepatoblastoma	22.9	VIM, INS, INSR, IGF2, SST, KRT19
47	breast carcinoma	22.8	SEL1L, VIM, INS, INSR, ENO2, IGF2
48	adenocarcinoma	22.3	SEL1L, VIM, INS, INSR, ENO2, IGF2
49	hepatitis	22.3	GCK, VIM, KCNJ5, INS, INSR, ENO2
50	cerebritis	22.2	GCK, VIM, KCNJ5, INS, INSR, ENO2

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 dextrose, dextrose 100% pwdr [va product], glucagon, glucose, glucose liquid

MalaCards organs/tissues related to hypoglycemia of infancy:

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MGI Mouse Phenotypes related to hypoglycemia of infancy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	9.6	ABCC8, GLUD1, SEL1L, KCNJ11
2	liver/biliary system phenotype	MP:0005370	9.0	INS, SEL1L, GCK, PDX1
3	growth/size phenotype	MP:0005378	7.8	GLUD1, PDX1, INS, KRT19, HADH, GCK
4	no phenotypic analysis	MP:0003012	7.6	KRT19, SST, IGF2, INS, KCNJ11
5	homeostasis/metabolism phenotype	MP:0005376	INF	IGF2, GLUD1, SST, PDX1, ABCC8, HADH
6	renal/urinary system phenotype	MP:0005367	INF	GCK, INS, , HADH
7	cellular phenotype	MP:0005384	INF	INS, ENO2, IGF2, PDX1, KRT19, HADH
8	digestive/alimentary phenotype	MP:0005381	INF	INS, IGF2, SST, PDX1, KRT19,

Articles related to hypoglycemia of infancy:

(show all 30)

id	Title	Authors	Year	Affiliating Genes
1	Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. (18339976)	Gussinyer M.... Carrascosa A.	2008	ABCC8
2	Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). (16353670)	Webb M.... James R.F.	2005	PDX1
3	Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy. (15450414)	Saltini G.... Biunno I.	2004	SEL1L
4	Hyperinsulinemic hypoglycemia of infancy: the challenge continues. (15133749)	Dekelbab B.H.... Sperling M.A.	2004	GCK, GLUD1
5	Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. (15356046)	Magge S.N.... Stanley C.A.	2004	GCK, GLUD1, ABCC8
6	The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. (12606521)	Sempoux C.... Rahier J.	2003	IGF2, ABCC8
7	Persistent hyperinsulinemic hypoglycemia of infancy. (14518075)	Cohen M.M.	2003	ABCC8
8	Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. (11912517)	Taguchi T.... Ono J.	2002	ABCC8
9	ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. (12199344)	Darendeliler F.... Gunoz H.	2002	ABCC8, KCNJ11, KCNJ5
10	Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. (11226335)	Cartier E.A.... Shyng S.-L.	2001	ABCC8, KCNJ11, KCNJ5
11	Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. (10993895)	Matsuo M.... Ueda K.	2000	ABCC8
12	Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. (11000331)	Jack M.M.... Bell J.R.	2000	VIM, ENO2, KRT19
13	Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. (11228046)	Someya T.... Seino S.	2000	ABCC8, KCNJ11
14	Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. (10615958)	Tanizawa Y.... Oka Y.	2000	ABCC8, KCNJ11
15	Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. (10567373)	Macfarlane W.M.... Dunne M.J.	1999	KCNJ11, PDX1
16	A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. (10334322)	Otonkoski T.... Thomas P.M.	1999	ABCC8, KCNJ11
17	Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. (10614546)	BaA9 F.... GA1nAPz H.	1999	SST
18	Hyperinsulinemic hypoglycemia of infancy. Recent insights into ATP-sensitive potassium channels, sulfonylurea receptors, molecular mechanisms, and treatment. (10609115)	Sperling M.A.... Menon R.K.	1999	ABCC8, KCNJ5
19	Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. (9648840)	Shyng S.-L.... Nichols C.G.	1998	ABCC8, KCNJ11, KCNJ5
20	Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. (9259578)	de Lonlay P.... Junien C.	1997	INS
21	Long-term diazoxide treatment in persistent hyperinsulinemic hypoglycemia of infancy: a patient report. (9364348)	Darendeliler F.... GA1nAPz H.	1997	SST
22	Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and som atostatin. (9312191)	Kane C.... Dunne M.J.	1997	SST, INS
23	Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. (9041101)	Dunne M.J.... Aguilar-Bryan L.	1997	ABCC8
24	An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. (9100595)	Kukuvitis A.... Polychronakos C.	1997	ABCC8
25	The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy. (8834059)	Thomas P.M.... Gagel R.F.	1996	ABCC8, INS
26	Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. (8923010)	Thomas P.... Lightner E.	1996	ABCC8, KCNJ11, KCNJ5
27	Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. (8751851)	Thomas P.M.... Cote G.J.	1996	ABCC8
28	Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. (7716548)	Thomas P.M.... Bryan J.	1995	ABCC8
29	Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. (7847376)	Thomas P.M.... Mathew P.M.	1995	ABCC8, KCNJ11
30	Linear growth during long-term treatment with somatostatin analog (SMS 201-995) for persistent hyperinsulinemic hypoglycemia of infancy. (2184212)	DeClue T.J.... Bercu B.B.	1990	SST

Genes related to hypoglycemia of infancy according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	11.1	Publications, Summaries
2	KCNJ11	potassium inwardly-rectifying channel, subfamily J, member 11	11.1	Summaries, Publications
3	GCK	glucokinase (hexokinase 4)	11.1	Summaries, Publications
4	GLUD1	glutamate dehydrogenase 1	11.0	Publications
5	SEL1L	sel-1 suppressor of lin-12-like (C. elegans)	11.0	Publications
6	KCNJ5	potassium inwardly-rectifying channel, subfamily J, member 5	11.0	Publications
7	HADH	hydroxyacyl-CoA dehydrogenase	11.0
8	PDX1	pancreatic and duodenal homeobox 1	11.0	Publications
9	ENO2	enolase 2 (gamma, neuronal)	11.0	Publications
10	KRT19	keratin 19	11.0	Publications
11	SST	somatostatin	11.0	Publications
12	VIM	vimentin	11.0	Publications
13	IGF2	insulin-like growth factor 2 (somatomedin A)	11.0	Publications
14	INS	insulin	11.0	Publications

Pathways related to hypoglycemia of infancy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Inwardly rectifying K+ channels38	10.0	KCNJ11, ABCC8
2	Potassium transporters- outward current10	9.6	ABCC8, KCNJ5, KCNJ11
3	Maturity onset diabetes of the young20	9.4	PDX1, GCK, INS
4	Antiarrhythmic Pathway, Pharmacodynamics34	9.4	ABCC8, KCNJ11, KCNJ5
5	Glucose / Energy Metabolism3	INF	PDX1, GLUD1, ENO2, , INS
6	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics34	INF	GCK, KCNJ11, INS, , PDX1, ABCC8
7	Type II diabetes mellitus20	INF	ABCC8, PDX1, , INS, KCNJ11, GCK
8	MODY (Maturity-Onset Diabetes of Young)36	INF	, GCK, INS
9	IRS activation38	INF	INS,

Compounds related to hypoglycemia of infancy according to GeneDecks:

(show top 50)    (show all 122)

id	Compound	Score	Top Affiliating Genes
1	mgadp32	10.0	ABCC8, KCNJ11, KCNJ5
2	pyruvate32	9.7	KRT19, GLUD1, GCK
3	Glyburide9 9	10.7	KCNJ11, ABCC8, KCNJ5
4	i-app32	9.6	PDX1, GCK, INS
5	repaglinide32 42 9 9	12.5	KCNJ11, KCNJ5, INS, ABCC8
6	incretin32	9.5	INS, GCK, PDX1
7	nateglinide32 42 9 9	12.5	KCNJ11, INS, ABCC8, KCNJ5
8	creatinine32	9.5	GCK, KRT19, GLUD1, ENO2
9	phosphoenolpyruvate32 9 9	11.3	KRT19, GLUD1, ENO2, GCK
10	glipizide32 9 9	11.3	ABCC8, SST, INS, KCNJ5
11	potassium32 9 18 9	12.0	GLUD1, ENO2, KCNJ5, ABCC8, KCNJ11, GCK
12	aspartate32	9.0	ABCC8, VIM, KCNJ11, GLUD1, KRT19
13	sulfonylurea32	8.7	KCNJ11, KCNJ5, INS, GLUD1, PDX1, ABCC8
14	carnitine32	8.6	INS, IGF2, GLUD1, HADH
15	atp32	8.6	KRT19, ABCC8, ENO2, KCNJ5, KCNJ11, GCK
16	tolbutamide32 34 9 9	11.5	KCNJ11, SST, ABCC8, INS, KCNJ5, GCK
17	leucine32	8.4	KCNJ11, ENO2, GLUD1, VIM, HADH, ABCC8
18	katp32	8.3	PDX1, ABCC8, GLUD1, GCK, KCNJ11, KCNJ5
19	diazoxide32 42 9 9	11.2	GCK, SST, KCNJ5, INS, KCNJ11, GLUD1
20	glucose32	8.1	KRT19, PDX1, GLUD1, IGF2, KCNJ5, HADH
21	adenylate32	7.6	ENO2, KCNJ5, VIM, IGF2, SST, GCK
22	retinoic acid32 42 18	8.7	GCK, VIM, ENO2, IGF2, SST, KRT19
23	lactate32	6.7	GCK, IGF2, ENO2, INS, VIM, KCNJ5
24	glutamate32	INF	KCNJ11, IGF2, GLUD1, , KCNJ5, HADH
25	glibenclamide32 34	INF	, INS, KCNJ11, ABCC8, KCNJ5
26	gliclazide32 34 9 9	INF	KCNJ11, INS, , ABCC8
27	metformin32 34 9 9	INF	ABCC8, , INS, KCNJ11, GCK
28	octreotide32 42 9 9	INF	SST, IGF2, ENO2, , INS
29	dexamethasone32 42 34 9 9	INF	GLUD1, , ENO2, IGF2, SST, VIM
30	serine32	INF	GLUD1, VIM, IGF2, , INS, PDX1
31	streptozotocin32	INF	SST, , GCK, PDX1, INS, VIM
32	acetylcholine32 9 18 9	INF	SST, VIM, KCNJ5, , ENO2, GLUD1
33	glycogen32 18	INF	VIM, , ENO2, IGF2, KRT19, ABCC8
34	glimepiride32 34 9 9	INF	, INS, KCNJ5, KCNJ11, ABCC8
35	preproinsulin32	INF	, GCK, PDX1, INS
36	valine32	INF	GLUD1, IGF2, , VIM, KCNJ11
37	gaba32 42	INF	, ENO2, SST, GLUD1, VIM
38	2-deoxyglucose32	INF	, GCK, INS, IGF2
39	c-peptide32	INF	PDX1, IGF2, , INS, SST, KCNJ11
40	rapamycin32 42	INF	INS, SST, GLUD1, IGF2, , VIM
41	ibmx32	INF	INS, , ENO2, IGF2, SST
42	vegf32	INF	IGF2, SST, PDX1, KRT19, ENO2,
43	arginine32	INF	ABCC8, SST, GLUD1, IGF2, , INS
44	alanine32	INF	IGF2, GLUD1, GCK, VIM, INS,
45	testosterone32 9 18 9	INF	ENO2, , SST, INS, ABCC8, IGF2
46	hydrocortisone32 9 9	INF	INS, VIM, SST, IGF2,
47	glutamine32	INF	KCNJ11, GLUD1, IGF2, VIM, ENO2, GCK
48	estrogen32	INF	VIM, KCNJ5, INS, , ENO2, KRT19
49	chromium picolinate32	INF	INS, , GCK
50	poly(glu(80)tyr(20))32	INF	INS,

Cellular components related to hypoglycemia of infancy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel complex	GO:008076	9.7	KCNJ11, KCNJ5, ABCC8

Biological processes related to hypoglycemia of infancy according to GeneDecks:

(show all 21)

id	Name	GO ID	Score	Top Affiliating Genes
1	detection of glucose	GO:051594	10.1	PDX1, GCK
2	potassium ion transmembrane transport	GO:071805	10.1	ABCC8, KCNJ11
3	negative regulation of gluconeogenesis	GO:045721	9.8	GCK, INS
4	endocrine pancreas development	GO:031018	9.6	INS, PDX1, GCK
5	regulation of insulin secretion	GO:050796	9.5	INS, KCNJ11, GCK, ABCC8
6	positive regulation of insulin receptor signaling pathway	GO:046628	9.3	IGF2, INS
7	energy reserve metabolic process	GO:006112	9.2	KCNJ11, INS, ABCC8
8	response to drug	GO:042493	9.0	HADH, ENO2, KCNJ11, SST
9	glucose metabolic process	GO:006006	8.4	PDX1, IGF2, ENO2, INS, KCNJ11
10	small molecule metabolic process	GO:044281	8.4	INS, GLUD1, ABCC8, HADH, KCNJ11, GCK
11	activation of protein kinase B activity	GO:032148	INF	, INS
12	positive regulation of MAPK cascade	GO:043410	INF	IGF2, , INS
13	glucose homeostasis	GO:042593	INF	INS, GCK, , PDX1
14	exocrine pancreas development	GO:031017	INF	, PDX1
15	positive regulation of glycogen biosynthetic process	GO:045725	INF	INS, GCK, IGF2,
16	positive regulation of respiratory burst	GO:060267	INF	INS,
17	positive regulation of glycolysis	GO:045821	INF	GCK, INS,
18	positive regulation of mitosis	GO:045840	INF	INS, , IGF2
19	carbohydrate metabolic process	GO:005975	INF	GCK, , ENO2, ABCC8
20	positive regulation of protein kinase B signaling cascade	GO:051897	INF	IGF2, , INS
21	positive regulation of cell proliferation	GO:008284	INF	INS, , PDX1, IGF2

Molecular functions related to hypoglycemia of infancy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	NAD+ binding	GO:070403	9.8	GLUD1, HADH
2	hormone activity	GO:005179	8.3	INS, IGF2, SST
3	insulin-like growth factor receptor binding	GO:005159	INF	INS, , IGF2