HHF2
MCID: HYP604
MIFTS: 65

Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 56 13 71
Persistent Hyperinsulinemic Hypoglycemia of Infancy 56 24 52 58 73
Congenital Hyperinsulinism 24 52 25 73 71
Familial Hyperinsulinism 24 52 58 29 6
Phhi 56 24 52 58 73
Nesidioblastosis 56 74 54 71
Hhf2 56 12 52 73
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 56 12 52
Familial Hyperinsulinemic Hypoglycemia 2 12 73 15
Chi 24 52 58
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 12 58
Familial Hyperinsulinemic Hypoglycemia 58 36
Congenital Isolated Hyperinsulinism 52 58
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 58
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 58
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 58
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 58
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 58
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 56
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 52
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 58
Persistent Hyperinsulinemia Hypoglycemia of Infancy 25
Hypoglycemia, Hyperinsulinemic, Familial, Type 2 39
Hyperinsulinemic Hypoglycemia, Persistent 56
Hypoglycemia Hyperinsulinemic of Infancy 52
Hyperinsulinemic Hypoglycemia Familial 2 52
Hyperinsulinemia Hypoglycemia of Infancy 25
Persistent Hyperinsulinemic Hypoglycemia 25
Hyperinsulinemic Hypoglycemia Familial 52
Infancy Hyperinsulinemia Hypoglycemia 25
Nesidioblastosis of Pancreas 52
Hyperinsulinism, Congenital 56
Hyperinsulinism Congenital 52
Hyperinsulinism, Neonatal 56
Hyperinsulinism, Familial 56
Neonatal Hyperinsulinism 25
Phhi Hypoglycemia 25
Hi-C 17
Fhi 58

Characteristics:

Orphanet epidemiological data:

58
congenital isolated hyperinsulinism
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;
autosomal dominant hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070218
OMIM 56 601820
OMIM Phenotypic Series 56 PS256450
KEGG 36 H01267
MESH via Orphanet 44 D044903
ICD10 via Orphanet 33 E16.1
UMLS via Orphanet 72 C0027773 C1257959 C2931834 more
MedGen 41 C2931833
UMLS 71 C0027773 C2931833 C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

NIH Rare Diseases : 52 Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancrea s that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia ) that can even occur after eating. In babies and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures , intellectual disability , vision loss, brain damage, and coma. The severity and onset of these episodes varies, even among members of the same family. In about 60% of the cases, the episodes start within the first month of life and are very severe and difficult to manage. In other cases, the disease starts in childhood or later, and the symptoms are mild. Early diagnosis and treatment is important to prevent neurologic damage from hypoglycemia. Congenital hyperinsulinism is caused by mutations in at least 11 different genes , including ABCC8 (responsible for about 45 % of the cases), KCNJ11 , GLUD1 , GCK , HK1 , HADH , HNF4A , HNF1A , SLC16A1 , UCP2 , and PGM1 . Inheritance may be autosomal recessive or autosomal dominant . Some cases are caused by loss of genetic material in a region of chromosome 11 (11p15) that comes from the mother (maternal chromosome ). According to the extent of abnormal beta cells , the disease can be focal (when abnormal beta cells are limited to 1 or a few areas in the pancreas) and diffuse (where the abnormal beta cells are spread throughout the pancreas). The goal of treatment is to manage the hypoglycemia to prevent brain damage. Medications may include diazoxide, octreotide, and glucagon. Surgery to remove part of the pancreas might be required in severe cases. Genetic testing may help to guide the best treatment.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 2, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 3 and hyperinsulinism. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Fatty acid degradation. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and pancreatic islet, and related phenotypes are hyperhidrosis and hypoglycemia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the KCNJ11 gene on chromosome 11p15.1.

Genetics Home Reference : 25 Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.

KEGG : 36 Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations.

UniProtKB/Swiss-Prot : 73 Familial hyperinsulinemic hypoglycemia 2: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

Wikipedia : 74 Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemia attributed to... more...

More information from OMIM: 601820 PS256450
GeneReviews: NBK1375

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 7

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 519)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 33.3 H4C14 H4C13 H4C12 H2AC18
2 hyperinsulinism 31.7 SST KCNJ11 INS HNF4A ABCC8
3 hypoglycemia 31.7 SST KCNJ11 INS GAST ABCC8
4 hyperinsulinemic hypoglycemia 31.5 SST KCNJ11 INS HNF4A H2AC18 ABCC8
5 islet cell tumor 31.2 SST INS GAST
6 hyperinsulinemic hypoglycemia, familial, 1 31.2 KCNJ11 H4C9 H4C8 H4C6 H4C4 H4C3
7 hyperglycemia 31.1 SST KCNJ11 INS HNF4A ABCC8
8 insulinoma 31.1 SST INS GAST ABCC8
9 acute insulin response 31.1 KCNJ11 INS ABCC8
10 glucagonoma 31.0 SST GAST
11 monogenic diabetes 30.9 KCNJ11 INS HNF4A ABCC8
12 beckwith-wiedemann syndrome 30.8 KCNJ11 INS H2AC18 ABCC8
13 munchausen by proxy 30.7 KCNJ11 ABCC8
14 neonatal diabetes mellitus 30.7 KCNJ11 INS HNF4A H2AC18 ABCC8
15 multiple endocrine neoplasia, type i 30.7 SST INS GAST
16 dumping syndrome 30.6 SST INS GAST
17 gastrinoma 30.6 SST INS GAST
18 asphyxia neonatorum 30.6 KCNJ11 INS ABCC8
19 diabetes mellitus, permanent neonatal 4 30.6 KCNJ11 INS ABCC8
20 maturity-onset diabetes of the young, type 2 30.5 KCNJ11 INS HNF4A ABCC8
21 maturity-onset diabetes of the young, type 3 30.5 KCNJ11 INS HNF4A ABCC8
22 maturity-onset diabetes of the young, type 1 30.5 KCNJ11 INS HNF4A ABCC8
23 gestational diabetes 30.5 KCNJ11 INS HNF4A ABCC8
24 hyperinsulinemic hypoglycemia, familial, 7 30.4 KCNJ11 ABCC8
25 diabetes mellitus, permanent neonatal 1 30.4 KCNJ11 INS ABCC8
26 constipation 30.3 SST INS H2AC18 GAST
27 fanconi-bickel syndrome 30.3 INS ABCC8
28 maturity-onset diabetes of the young 30.3 SST KCNJ11 INS HNF4A H2AC18 ABCC8
29 primary hyperoxaluria 28.2 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
30 hyperoxaluria, primary, type i 28.2 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
31 leukemia, acute myeloid 28.1 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
32 retinitis pigmentosa 28.1 INS H4C9 H4C8 H4C6 H4C4 H4C3
33 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 12.4
34 fuchs' heterochromic uveitis 12.2
35 hyperinsulinemic hypoglycemia, familial, 5 11.8
36 hyperinsulinemic hypoglycemia, familial, 4 11.8
37 hyperinsulinemic hypoglycemia, familial, 6 11.5
38 mahvash disease 11.4
39 retinal vasculitis 11.3
40 ovarian cancer 11.3
41 gastrointestinal neuroendocrine benign tumor 10.6 SST GAST
42 osteoarthritis 10.6
43 non-functioning pancreatic endocrine tumor 10.6 SST GAST
44 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.6 KCNJ11 HNF4A ABCC8
45 rectum neuroendocrine neoplasm 10.6 SST GAST
46 maturity-onset diabetes of the young, type 13 10.6 KCNJ11 HNF4A ABCC8
47 maturity-onset diabetes of the young, type 7 10.6 KCNJ11 HNF4A ABCC8
48 maturity-onset diabetes of the young, type 9 10.6 KCNJ11 HNF4A ABCC8
49 maturity-onset diabetes of the young, type 6 10.6 KCNJ11 HNF4A ABCC8
50 maturity-onset diabetes of the young, type 10 10.6 KCNJ11 INS ABCC8

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 2

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
3 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
4 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
5 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
6 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
7 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
8 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004510
9 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000825
10 reduced pancreatic beta cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0006274
11 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
12 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
13 abnormal circulating fatty-acid concentration 31 hallmark (90%) HP:0004359
14 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
15 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
16 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
17 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
18 low levels of vitamin b1 31 frequent (33%) HP:0100503
19 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
20 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
21 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
22 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
23 secondary growth hormone deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008240
24 decreased circulating cortisol level 58 31 occasional (7.5%) Occasional (29-5%) HP:0008163
25 abnormal brain fdg positron emission tomography 58 31 occasional (7.5%) Occasional (29-5%) HP:0012658
26 seizure 31 occasional (7.5%) HP:0001250
27 seizures 58 Occasional (29-5%)
28 cognitive impairment 58 Frequent (79-30%)
29 hyperinsulinemia 58 Very frequent (99-80%)
30 abnormality of fatty-acid metabolism 58 Very frequent (99-80%)
31 vitamin b1 deficiency 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Endocrine Features:
hyperinsulinemic hypoglycemia

Growth Other:
large for gestational age

Abdomen Pancreas:
islet cell hyperplasia, diffuse

Clinical features from OMIM:

601820

GenomeRNAi Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.58 H2AC18 H4C13
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.58 H4C13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 H2AC18 H4C13
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.58 H2AC18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.58 H2AC18 H4C13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.58 H4C14 H4C15
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.58 H4C13
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.58 H2AC18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.58 H2AC18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.58 H4C14 H4C15
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.58 H2AC18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.58 H4C14 H4C15

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 2

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
4
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
5
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
6 Vasodilator Agents Phase 2, Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 Gastrointestinal Agents Phase 3
9 Antineoplastic Agents, Hormonal Phase 3
10
Pancrelipase Approved, Investigational Phase 2 53608-75-6
11
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
12
Glucagon Approved Phase 1, Phase 2 16941-32-5
13
tannic acid Approved Phase 1, Phase 2 1401-55-4
14
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
15 pancreatin Phase 2
16 Polygeline Phase 1, Phase 2
17 lysine Phase 1, Phase 2
18 Radiopharmaceuticals Phase 1, Phase 2
19 Plasma Substitutes Phase 1, Phase 2
20 Blood Substitutes Phase 1, Phase 2
21 Hypoglycemic Agents Phase 1, Phase 2
22 Incretins Phase 1, Phase 2
23 Anti-Obesity Agents Phase 1, Phase 2
24 Glucagon-Like Peptide 1 Phase 1, Phase 2
25
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
26
Levodopa Approved Phase 1 59-92-7 6047
27
Lactitol Approved, Investigational Phase 1 585-88-6, 585-86-4 493591
28 Cardiac Glycosides Phase 1
29 Glycoside Hydrolase Inhibitors Phase 1
30 Insulin, Globin Zinc Phase 1
31 insulin Phase 1
32
Insulin aspart Approved 116094-23-6 16132418
33
Paroxetine Approved, Investigational 61869-08-7 43815
34
Fluoxetine Approved, Vet_approved 54910-89-3 3386
35
Sertraline Approved 79617-96-2 68617
36
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
37
Dopamine Approved 51-61-6, 62-31-7 681
38
Cysteine Approved, Nutraceutical Early Phase 1 52-90-4 5862
39
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
40 Tocotrienol Investigational 6829-55-6
41 Antidepressive Agents
42 Micronutrients
43 Trace Elements
44 Vitamins
45 Antioxidants
46 Nutrients
47 Protective Agents
48 Tocotrienols
49 Tocopherols
50 Dihydroxyphenylalanine

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 Use for Diazoxide in the Initial Management of Hypoglycemia in Infants of Diabetic Mothers and Infants Large for Gestation Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
3 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
4 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
6 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
7 Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behaviour and Weight in Patients With Prader-Willi Syndrome Terminated NCT00175305 Phase 3 Sandostatin LAR
8 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
9 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
10 An Open Label Pilot Study of the Effects of the Glucagon-like Peptide-1 Receptor Antagonist, Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
11 A Phase 2 Proof-of-Concept Study of CSI-Glucagon™ (Continuous Subcutaneous Glucagon Infusion) to Prevent Hypoglycemia With Lower Intravenous Glucose Infusion Rates in Children up to One Year of Age With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
12 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
13 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism (HI) Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
14 Role of GLP-1 in Congenital Hyperinsulinism:Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
15 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
16 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Completed NCT03770637 Phase 2 Glucagon RTU
17 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
18 Visualizing Beta Cells in Patients With T2D Before and After Bariatric Surgery Recruiting NCT03182231 Phase 1, Phase 2
19 68Ga-NODAGA-exendin-4 PET/CT in Patients With AHH - a Prospective Comparative Evaluation of Preoperative Imaging Enrolling by invitation NCT03189953 Phase 1, Phase 2
20 Role of Glucagon-Like Peptide-1 (GLP-1) in Congenital Hyperinsulinism: Effect of Exendin (9-39) on Glucose Requirements to Maintain Euglycemia Terminated NCT00835328 Phase 1, Phase 2 Exendin (9-39);Vehicle
21 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
22 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
23 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
24 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 1
25 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
26 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
27 Visualizing Beta Cells in Patients With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03182192 Phase 1
28 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
29 68Ga-NOTA-exendin-4 PET/CT for the Localization of Insulinoma and Diagnosis of Nesidioblastosis Unknown status NCT02560376 Early Phase 1 68Ga-NOTA-exendin-4
30 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
31 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
32 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
33 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
34 Repercussion of Maternal Lifestyle on Obstetric and Neonatal Outcomes Completed NCT01409382
35 RANDOMIZED CLINICAL STUDY COMPARING THE EFFECT OF ROUX-en-Y GASTRIC BYPASS AND SLEEVE GASTRECTOMY ON REACTIVE HYPOGLYCEMIA Completed NCT01581801
36 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Recruiting NCT03768518
37 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
38 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Active, not recruiting NCT03797222
39 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
40 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
41 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
42 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Not yet recruiting NCT04330196
43 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Not yet recruiting NCT04334161

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

# Genetic test Affiliating Genes
1 Familial Hyperinsulinism 29 HNF4A

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 2:

40
Brain, Pancreas, Pancreatic Islet, Testes, Kidney, Liver, Heart

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 195)
# Title Authors PMID Year
1
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 6 56 24
15579781 2004
2
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. 56 6 24
9356020 1997
3
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. 6 56
19357197 2009
4
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 56 6
18596924 2008
5
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. 56 6
15998776 2005
6
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 56 6
15562009 2005
7
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 56 24 61
8923010 1996
8
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6
7847376 1995
9
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. 24 61
21956412 2011
10
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 56
20685672 2010
11
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 6
19475716 2009
12
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 6
17378627 2007
13
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. 6
14715863 2004
14
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. 61 24
14693719 2004
15
Familial Hyperinsulinism 6
20301549 2003
16
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 56
11395395 2001
17
Molecular biology of adenosine triphosphate-sensitive potassium channels. 24 61
10204114 1999
18
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 24 61
10334322 1999
19
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 24 61
10338089 1999
20
Ions and genes in persistent hyperinsulinaemic hypoglycaemia in infancy: a commentary on the implications for tailoring treatment to disease pathogenesis. 6
9642650 1998
21
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. 24
28681398 2017
22
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 24
28373276 2017
23
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. 24
28318089 2017
24
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. 24
27967291 2017
25
Timing, rates and spectra of human germline mutation. 24
26656846 2016
26
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 24
26691667 2016
27
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. 24
23859901 2013
28
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. 24
22190679 2012
29
Successful treatment of congenital hyperinsulinism with long-acting release octreotide. 24
22048969 2012
30
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 24
21716120 2011
31
Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). 24
21697252 2011
32
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 24
21252247 2011
33
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 24
20164212 2010
34
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. 24
19336674 2009
35
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene. 24
19318379 2009
36
Surgical versus non-surgical treatment of congenital hyperinsulinism. 24
19396028 2009
37
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. 24
19046187 2008
38
How low can I go? The impact of hypoglycemia on the immature brain. 24
18676561 2008
39
Patterns of cerebral injury and neurodevelopmental outcomes after symptomatic neonatal hypoglycemia. 24
18595988 2008
40
[18F]-DOPA positron emission tomography for preoperative localization in congenital hyperinsulinism. 24
18547951 2008
41
Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. 24
18493152 2008
42
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. 24
16380471 2006
43
Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI). 24
16456495 2004
44
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 24
15277402 2004
45
Inhibition of insulin secretion as a new drug target in the treatment of metabolic disorders. 61 54
15180566 2004
46
The genetics of neonatal hyperinsulinism. 24
12566718 2003
47
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 24
11916951 2002
48
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. 61 54
11912517 2002
49
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 24
11489939 2001
50
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 24
11018078 2000

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

6 (show top 50) (show all 249) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys)SNV Pathogenic 435558 rs766891274 11:17409233-17409233 11:17387686-17387686
2 ABCC8 NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)SNV Pathogenic 495835 rs200670692 11:17498262-17498262 11:17476715-17476715
3 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
4 ABCC8 NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)SNV Pathogenic 632619 rs367850779 11:17424217-17424217 11:17402670-17402670
5 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)SNV Pathogenic 633027 rs1564977373 11:17483257-17483257 11:17461710-17461710
6 ABCC8 NM_001287174.2(ABCC8):c.1176+2T>CSNV Pathogenic 633026 rs750586210 11:17474664-17474664 11:17453117-17453117
7 KCNJ11 NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro)SNV Pathogenic 8665 rs28936678 11:17409199-17409199 11:17387652-17387652
8 KCNJ11 NM_001166290.2(KCNJ11):c.-16-210C>ASNV Pathogenic 8673 rs104894236 11:17409603-17409603 11:17388056-17388056
9 KCNJ11 NM_000525.3(KCNJ11):c.-134G>TSNV Pathogenic 8674 rs387906398 11:17409772-17409772 11:17388225-17388225
10 KCNJ11 NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu)SNV Pathogenic 8675 rs104894237 11:17408878-17408878 11:17387331-17387331
11 KCNJ11 NM_000525.3(KCNJ11):c.776A>G (p.His259Arg)SNV Pathogenic 8677 rs104894248 11:17408863-17408863 11:17387316-17387316
12 KCNJ11 NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg)SNV Pathogenic 8684 rs1404429785 11:17409173-17409173 11:17387626-17387626
13 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met)SNV Pathogenic 211230 rs780957825 11:17408758-17408758 11:17387211-17387211
14 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)SNV Pathogenic 217846 rs863225280 11:17483269-17483269 11:17461722-17461722
15 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)deletion Pathogenic 196880 rs151344624 11:17417435-17417437 11:17395888-17395890
16 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)SNV Pathogenic 370163 rs1057516281 11:17419891-17419891 11:17398344-17398344
17 ABCC8 NM_001287174.2(ABCC8):c.2698-1G>CSNV Pathogenic 371626 rs1057517420 11:17430065-17430065 11:17408518-17408518
18 ABCC8 NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)deletion Pathogenic/Likely pathogenic 370210 rs1057516317 11:17424284-17424284 11:17402737-17402737
19 ABCC8 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)SNV Pathogenic/Likely pathogenic 188905 rs541269678 11:17428964-17428964 11:17407417-17407417
20 ABCC8 NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)SNV Pathogenic/Likely pathogenic 235633 rs139964066 11:17424218-17424218 11:17402671-17402671
21 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)SNV Pathogenic/Likely pathogenic 8686 rs267607196 11:17408795-17408795 11:17387248-17387248
22 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)SNV Pathogenic/Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611
23 ABCC8 NM_001287174.2(ABCC8):c.2222+1G>TSNV Pathogenic/Likely pathogenic 552779 rs1554923999 11:17448595-17448595 11:17427048-17427048
24 KCNJ11 NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val)SNV Likely pathogenic 551187 rs1371185696 11:17409079-17409079 11:17387532-17387532
25 KCNJ11 NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs)duplication Likely pathogenic 555247 rs1337406718 11:17408574-17408575 11:17387027-17387028
26 ABCC8 NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)SNV Likely pathogenic 633028 rs1382448285 11:17432064-17432064 11:17410517-17410517
27 ABCC8 NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)SNV Likely pathogenic 587515 rs149331388 11:17418531-17418531 11:17396984-17396984
28 ABCC8 NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)SNV Likely pathogenic 587475 rs1564890766 11:17427094-17427094 11:17405547-17405547
29 KCNJ11 NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs)duplication Likely pathogenic 553023 rs1554901690 11:17408867-17408868 11:17387320-17387321
30 KCNJ11 NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs)short repeat Likely pathogenic 556063 rs1554901829 11:17409273-17409276 11:17387726-17387729
31 KCNJ11 NM_000525.3(KCNJ11):c.868G>A (p.Val290Met)SNV Likely pathogenic 435556 rs750414160 11:17408771-17408771 11:17387224-17387224
32 KCNJ11 NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys)SNV Likely pathogenic 557416 rs954727530 11:17409539-17409539 11:17387992-17387992
33 KCNJ11 NM_000525.3(KCNJ11):c.290dup (p.His97fs)duplication Likely pathogenic 557649 rs1554901854 11:17409348-17409349 11:17387801-17387802
34 KCNJ11 NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter)SNV Likely pathogenic 557258 rs587783669 11:17409141-17409141 11:17387594-17387594
35 KCNJ11 NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro)SNV Likely pathogenic 694392 11:17409274-17409274 11:17387727-17387727
36 ABCC8 NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)SNV Likely pathogenic 35616 rs137852676 11:17417399-17417399 11:17395852-17395852
37 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)SNV drug response 8678 rs5219 11:17409572-17409572 11:17388025-17388025
38 KCNJ11 NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter)SNV Likely pathogenic 242910 rs879253757 11:17409485-17409485 11:17387938-17387938
39 KCNJ11 NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val)SNV Likely pathogenic 211229 rs797045637 11:17408773-17408773 11:17387226-17387226
40 KCNJ11 NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala)SNV Likely pathogenic 211228 rs797045637 11:17408773-17408773 11:17387226-17387226
41 KCNJ11 NM_000525.3(KCNJ11):c.843C>T (p.Leu281=)SNV Conflicting interpretations of pathogenicity 211227 rs116392938 11:17408796-17408796 11:17387249-17387249
42 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.108G>A (p.Val36=)SNV Conflicting interpretations of pathogenicity 211221 rs112070496 11:17409531-17409531 11:17387984-17387984
43 KCNJ11 NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys)SNV Conflicting interpretations of pathogenicity 211226 rs752507753 11:17409560-17409560 11:17388013-17388013
44 ABCC8 NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)SNV Conflicting interpretations of pathogenicity 157683 rs368114790 11:17464335-17464335 11:17442788-17442788
45 KCNJ11 NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=)SNV Conflicting interpretations of pathogenicity 158672 rs8175351 11:17408496-17408496 11:17386949-17386949
46 KCNJ11 NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys)SNV Conflicting interpretations of pathogenicity 36430 rs41282930 11:17408485-17408485 11:17386938-17386938
47 KCNJ11 NM_000525.3(KCNJ11):c.801C>G (p.Leu267=)SNV Conflicting interpretations of pathogenicity 158684 rs5216 11:17408838-17408838 11:17387291-17387291
48 KCNJ11 NM_000525.3(KCNJ11):c.584G>A (p.Arg195His)SNV Conflicting interpretations of pathogenicity 158681 rs5217 11:17409055-17409055 11:17387508-17387508
49 KCNJ11 NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=)SNV Conflicting interpretations of pathogenicity 256362 rs143276279 11:17408544-17408544 11:17386997-17386997
50 ABCC8 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)SNV Conflicting interpretations of pathogenicity 188931 rs72559716 11:17416719-17416719 11:17395172-17395172

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Leu147Pro VAR_001557 rs28936678
2 KCNJ11 p.Lys67Asn VAR_026506 rs747719667
3 KCNJ11 p.Trp91Arg VAR_026507
4 KCNJ11 p.Pro254Leu VAR_026513 rs104894237
5 KCNJ11 p.Arg34His VAR_031329 rs141145502
6 KCNJ11 p.Gly40Asp VAR_031330 rs100187384
7 KCNJ11 p.Phe55Leu VAR_031335 rs134340077
8 KCNJ11 p.Ala101Asp VAR_031336 rs101445453
9 KCNJ11 p.Ser116Pro VAR_031337
10 KCNJ11 p.Gly134Ala VAR_031338
11 KCNJ11 p.Arg136Leu VAR_031339 rs147948369
12 KCNJ11 p.His259Arg VAR_031345 rs104894248
13 KCNJ11 p.Pro266Leu VAR_031346 rs155490167
14 KCNJ11 p.Arg301His VAR_031347 rs74339576
15 KCNJ11 p.Gly156Arg VAR_073683 rs140442978
16 KCNJ11 p.Asp204Glu VAR_073685 rs577757932
17 KCNJ11 p.Glu282Lys VAR_073687 rs267607196

Expression for Hyperinsulinemic Hypoglycemia, Familial, 2

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 2.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 2

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Fatty acid degradation hsa00071
3 D-Glutamine and D-glutamate metabolism hsa00471
4 ABC transporters hsa02010
5 Insulin signaling pathway hsa04910
6 Type II diabetes mellitus hsa04930

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.23 SST INS H4C9 H4C8 H4C6 H4C4
2
Show member pathways
13.91 HNF4A H4C9 H4C8 H4C6 H4C4 H4C3
3
Show member pathways
13.89 INS H4C9 H4C8 H4C6 H4C4 H4C3
4
Show member pathways
13.88 INS H4C9 H4C8 H4C6 H4C4 H4C3
5
Show member pathways
13.87 INS H4C9 H4C8 H4C6 H4C4 H4C3
6
Show member pathways
13.66 INS HNF4A H4C9 H4C8 H4C6 H4C4
7
Show member pathways
13.57 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
8
Show member pathways
13.37 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
9
Show member pathways
13.33 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
10
Show member pathways
13.18 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
11
Show member pathways
13.07 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
12
Show member pathways
13.01 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
13
Show member pathways
12.82 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
14
Show member pathways
12.79 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
15 12.65 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
16
Show member pathways
12.65 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
17
Show member pathways
12.57 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
18
Show member pathways
12.5 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
19
Show member pathways
12.46 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
20
Show member pathways
12.35 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
21
Show member pathways
12.33 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
22
Show member pathways
12.31 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
23
Show member pathways
11.91 KCNJ11 INS HNF4A ABCC8
24 11.91 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
25 11.56 KCNJ11 INS HNF4A ABCC8

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 KCNJ11 H4C9 H4C8 H4C6 H4C4 H4C3
2 nucleus GO:0005634 10.39 HNF4A H4C9 H4C8 H4C6 H4C4 H4C3
3 extracellular region GO:0005576 10.34 SST INS H4C9 H4C8 H4C6 H4C4
4 nucleoplasm GO:0005654 10.32 HNF4A H4C9 H4C8 H4C6 H4C4 H4C3
5 extracellular exosome GO:0070062 10.3 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
6 protein-containing complex GO:0032991 10.22 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
7 nuclear nucleosome GO:0000788 10.18 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
8 nuclear chromosome, telomeric region GO:0000784 10.13 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
9 nuclear chromosome GO:0000228 10.07 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
10 host cell nucleus GO:0042025 10 HNF4A H4C9 H4C8 H4C6 H4C4 H4C3
11 chromosome GO:0005694 9.8 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
12 inward rectifying potassium channel GO:0008282 9.49 KCNJ11 ABCC8
13 nucleosome GO:0000786 9.47 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing by miRNA GO:0060964 10.35 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
2 negative regulation of gene expression, epigenetic GO:0045814 10.34 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
3 negative regulation of megakaryocyte differentiation GO:0045653 10.32 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
4 regulation of megakaryocyte differentiation GO:0045652 10.31 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
5 CENP-A containing nucleosome assembly GO:0034080 10.29 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
6 telomere organization GO:0032200 10.27 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
7 telomere capping GO:0016233 10.25 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
8 DNA-templated transcription, initiation GO:0006352 10.22 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
9 DNA replication-independent nucleosome assembly GO:0006336 10.18 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
10 DNA replication-dependent nucleosome assembly GO:0006335 10.13 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
11 nucleosome assembly GO:0006334 10.07 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
12 double-strand break repair via nonhomologous end joining GO:0006303 9.97 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
13 chromatin silencing at rDNA GO:0000183 9.77 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
14 regulation of insulin secretion GO:0050796 9.73 KCNJ11 HNF4A ABCC8
15 inorganic cation transmembrane transport GO:0098662 9.55 KCNJ11 ABCC8
16 cellular protein metabolic process GO:0044267 9.47 INS H4C9 H4C8 H4C6 H4C4 H4C3

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 KCNJ11 INS HNF4A H4C9 H4C8 H4C6
2 RNA binding GO:0003723 10.07 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
3 DNA binding GO:0003677 10.03 HNF4A H4C9 H4C8 H4C6 H4C4 H4C3
4 protein domain specific binding GO:0019904 9.77 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
5 hormone activity GO:0005179 9.58 SST INS GAST
6 protein heterodimerization activity GO:0046982 9.47 H4C9 H4C8 H4C6 H4C4 H4C3 H4C2
7 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ11 ABCC8

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....