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 57 13 70
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 25 20 58 72
Congenital Hyperinsulinism 25 20 43 72 70
Familial Hyperinsulinism 25 20 58 29 6
Phhi 57 25 20 58 72
Nesidioblastosis 57 73 54 70
Hhf2 57 12 20 72
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57 12 20
Familial Hyperinsulinemic Hypoglycemia 2 12 72 15
Chi 25 20 58
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 12 58
Hyperinsulinemic Hypoglycemia, Persistent 57 6
Familial Hyperinsulinemic Hypoglycemia 58 36
Congenital Isolated Hyperinsulinism 20 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 57
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 20
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 58
Persistent Hyperinsulinemia Hypoglycemia of Infancy 43
Hypoglycemia, Hyperinsulinemic, Familial, Type 2 39
Hypoglycemia Hyperinsulinemic of Infancy 20
Hyperinsulinemic Hypoglycemia Familial 2 20
Hyperinsulinemia Hypoglycemia of Infancy 43
Persistent Hyperinsulinemic Hypoglycemia 43
Hyperinsulinemic Hypoglycemia Familial 20
Infancy Hyperinsulinemia Hypoglycemia 43
Nesidioblastosis of Pancreas 20
Hyperinsulinism, Congenital 57
Hyperinsulinism Congenital 20
Hyperinsulinism, Neonatal 57
Hyperinsulinism, Familial 57
Neonatal Hyperinsulinism 43
Phhi Hypoglycemia 43
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

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® 57 601820
OMIM Phenotypic Series 57 PS256450
KEGG 36 H01267
MESH via Orphanet 45 D044903
ICD10 via Orphanet 33 E16.1
UMLS via Orphanet 71 C0027773 C1257959 C2931834 more
MedGen 41 C2931833
UMLS 70 C0027773 C2931833 C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

GARD : 20 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 hyperinsulinemic hypoglycemia, familial, 6. 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 pancreas, pancreatic islet and brain, and related phenotypes are hyperhidrosis and pallor

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.

MedlinePlus Genetics : 43 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 : 72 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 : 73 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 547)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 32.7 H4-16 H2AC18
2 hyperinsulinemic hypoglycemia, familial, 6 32.5 KCNJ11 ABCC8
3 hypoglycemia 31.6 SST KCNJ11 INS ABCC8
4 hyperinsulinism 31.6 SST LOC110121471 KCNJ11 INS HNF4A ABCC8
5 hyperinsulinemic hypoglycemia, familial, 1 31.4 LOC110121471 KCNJ11 H4C8 H4C6 H4C4 H4C3
6 insulinoma 31.0 SST INS GAST ABCC8
7 hyperglycemia 31.0 SST KCNJ11 INS HNF4A ABCC8
8 permanent neonatal diabetes mellitus 30.9 LOC110121471 KCNJ11 INS HNF4A ABCC8
9 diabetes mellitus, permanent neonatal, 1 30.9 KCNJ11 INS ABCC8
10 acute insulin response 30.8 KCNJ11 INS ABCC8
11 islet cell tumor 30.8 SST INS GAST
12 glucose intolerance 30.8 SST KCNJ11 INS ABCC8
13 monogenic diabetes 30.8 KCNJ11 INS HNF4A ABCC8
14 beckwith-wiedemann syndrome 30.8 KCNJ11 INS H2AC18 ABCC8
15 transient neonatal diabetes mellitus 30.8 LOC110121471 KCNJ11 INS H2AC18 ABCC8
16 maturity-onset diabetes of the young, type 1 30.7 KCNJ11 INS HNF4A ABCC8
17 glucagonoma 30.6 SST GAST
18 multiple endocrine neoplasia, type i 30.5 SST INS H2AC18 GAST
19 munchausen by proxy 30.5 KCNJ11 ABCC8
20 neonatal diabetes 30.5 KCNJ11 INS ABCC8
21 asphyxia neonatorum 30.4 KCNJ11 INS ABCC8
22 gestational diabetes 30.3 KCNJ11 INS HNF4A ABCC8
23 maturity-onset diabetes of the young, type 2 30.3 KCNJ11 INS HNF4A ABCC8
24 maturity-onset diabetes of the young, type 3 30.3 KCNJ11 INS HNF4A ABCC8
25 hyperinsulinemic hypoglycemia, familial, 7 30.3 KCNJ11 ABCC8
26 dumping syndrome 30.3 SST INS GAST
27 gastrinoma 30.2 SST INS GAST
28 maturity-onset diabetes of the young 30.1 SST KCNJ11 INS HNF4A H2AC18 ABCC8
29 fanconi-bickel syndrome 29.9 INS ABCC8
30 hyperinsulinemic hypoglycemia 29.8 SST LOC110121471 KCNJ11 INS HNF4A H4C8
31 disease of mental health 29.3 SST INS HNF4A H4C8 H4C6 H4C4
32 leukemia, acute myeloid 29.1 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
33 primary hyperoxaluria 29.0 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
34 hyperoxaluria, primary, type i 29.0 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
35 retinitis pigmentosa 28.9 INS H4C8 H4C6 H4C4 H4C3 H4C2
36 hyperinsulinemic hypoglycemia, familial, 5 11.7
37 fuchs' heterochromic uveitis 11.5
38 hyperinsulinemic hypoglycemia, familial, 4 11.5
39 atypical fanconi syndrome-neonatal hyperinsulinism syndrome 11.1
40 mahvash disease 11.1
41 insulinomatosis and diabetes mellitus 11.0
42 ovarian cancer 10.9
43 retinal vasculitis 10.9
44 osteoarthritis 10.5
45 autosomal recessive disease 10.5
46 factitious disorder 10.4 KCNJ11 INS ABCC8
47 gastrointestinal neuroendocrine benign tumor 10.4 SST GAST
48 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 KCNJ11 HNF4A ABCC8
49 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 HNF4A ABCC8
50 non-functioning pancreatic endocrine tumor 10.4 SST GAST

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 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
3 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
4 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
5 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
6 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
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%) HP:0004510
9 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
10 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0004359
12 hypoglycemia 31 hallmark (90%) HP:0001943
13 reduced pancreatic beta cells 31 hallmark (90%) HP:0006274
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 58 31 frequent (33%) Frequent (79-30%) 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%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
4
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
5 Dopamine Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 Radiopharmaceuticals Phase 3
8 Sodium Potassium Chloride Symporter Inhibitors Phase 3
9 diuretics Phase 3
10
Pancrelipase Approved, Investigational Phase 2 53608-75-6
11
Diazoxide Approved Phase 2 364-98-7 3019
12
Levodopa Approved Phase 2 59-92-7 6047
13
Glucagon Approved Phase 1, Phase 2 16941-32-5
14
tannic acid Approved Phase 1, Phase 2 1401-55-4
15
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
16 Dihydroxyphenylalanine Phase 2
17 Gastrointestinal Agents Phase 2
18 pancreatin Phase 2
19 Antineoplastic Agents, Hormonal Phase 2
20 Glucagon-Like Peptide 1 Phase 1, Phase 2
21
Exenatide Approved, Investigational Phase 1 141758-74-9 15991534
22
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
23
Octreotide Approved, Investigational Phase 1 83150-76-9 6400441 383414
24
Somatostatin Approved, Investigational Phase 1 38916-34-6, 51110-01-1 53481605
25
Lactitol Approved, Investigational Phase 1 585-86-4 157355
26 Anti-Obesity Agents Phase 1
27 Glycoside Hydrolase Inhibitors Phase 1
28 Cardiac Glycosides Phase 1
29 Incretins Phase 1
30 insulin Phase 1
31 Insulin, Globin Zinc Phase 1
32
Insulin aspart Approved 116094-23-6 16132418
33
Canagliflozin Approved 842133-18-0
34
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
35
Cysteine Approved, Nutraceutical Early Phase 1 52-90-4 5862
36
gastric inhibitory polypeptide Investigational 100040-31-1
37 Hypoglycemic Agents
38 Sodium-Glucose Transporter 2 Inhibitors
39 Nutrients
40 Fluorides

Interventional clinical trials:

(show all 40)
# 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 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Completed NCT03777176 Phase 3 dasiglucagon
3 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
4 18F-DOPA II - PET Imaging Optimization Recruiting NCT04706910 Phase 3 18F-DOPA;Furosemide Injection
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Active, not 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 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)
8 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
9 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
10 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
11 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
12 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
13 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
14 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
15 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
16 An Open-Label Multiple-Dose Study of RZ358 in Patients With Congenital Hyperinsulinism Recruiting NCT04538989 Phase 2 RZ358 Sequential Group Cohort 1;RZ358 Sequential Group Cohort 2;RZ358 Sequential Group Cohort 3;RZ358 Sequential Group Cohort 4
17 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 2 18F-Fluoro Dopa Imaging
18 A Phase 2, Multiple Ascending Dose, Open-label, Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of HM15136 Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI) Not yet recruiting NCT04732416 Phase 2 HM15136
19 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinemic Hypoglycemia Not yet recruiting NCT04652479 Phase 2 Avexitide
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 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
22 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
23 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
24 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
25 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
26 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
27 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
28 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Unknown status NCT03930368
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 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
32 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Completed NCT04330196
33 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
34 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
35 Canagliflozin: a New Therapeutic Option in Patients That Present Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y-gastric By-pass Recruiting NCT04720859 Canagliflozin 300 MG Oral Tablet
36 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
37 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Recruiting NCT04334161
38 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
39 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
40 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia No longer available NCT02533219 18 F-DOPA

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

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 246)
# Title Authors PMID Year
1
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6 57 25
8923010 1996
2
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 25 57 6
15579781 2004
3
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. 57 6 25
9356020 1997
4
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 57 6
31464105 2019
5
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 6 57
20685672 2010
6
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. 57 6
19357197 2009
7
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 57 6
18596924 2008
8
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 57 6
15562009 2005
9
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. 57 6
11395395 2001
10
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 25 6 61
10334322 1999
11
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 6 25 61
10338089 1999
12
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 25 6
21716120 2011
13
Genetic heterogeneity in familial hyperinsulinism. 25 6
9618169 1998
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. 61 6
10615958 2000
15
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 61 6
9648840 1998
16
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 6 61
7716548 1995
17
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 6 61
7847376 1995
18
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. 6
33046911 2020
19
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. 6
32027066 2020
20
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions. 6
30386300 2018
21
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 6
28442472 2017
22
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 6
27908292 2016
23
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 6
27682711 2016
24
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 6
27573238 2016
25
Clinical and genetic characterization of congenital hyperinsulinism in Spain. 6
27188453 2016
26
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. 6
26431509 2015
27
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 6
26180531 2015
28
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 6
25201519 2014
29
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 6
25117148 2014
30
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 6
24686051 2014
31
Congenital hyperinsulinism. 6
25323548 2014
32
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 6
24401662 2014
33
Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 6
24145932 2013
34
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. 6
23067144 2013
35
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 6
23345197 2013
36
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 6
23275527 2013
37
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. 6
23261959 2013
38
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. 6
23652837 2013
39
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 6
24616771 2013
40
GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. 6
22855730 2012
41
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 6
22311976 2012
42
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. 61 25
21956412 2011
43
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 6
21812132 2011
44
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 6
21422196 2011
45
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 6
21378087 2011
46
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. 6
20943781 2011
47
[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]. 6
21835061 2011
48
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex. 6
20427569 2010
49
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 6
19475716 2009
50
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. 6
18767144 2009

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

6 (show top 50) (show all 260)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) SNV Pathogenic 211230 rs780957825 GRCh37: 11:17408758-17408758
GRCh38: 11:17387211-17387211
2 KCNJ11 NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) SNV Pathogenic 8665 rs28936678 GRCh37: 11:17409199-17409199
GRCh38: 11:17387652-17387652
3 KCNJ11 NM_001166290.2(KCNJ11):c.-16-210C>A SNV Pathogenic 8673 rs104894236 GRCh37: 11:17409603-17409603
GRCh38: 11:17388056-17388056
4 KCNJ11 NM_000525.3(KCNJ11):c.-134G>T SNV Pathogenic 8674 rs387906398 GRCh37: 11:17409772-17409772
GRCh38: 11:17388225-17388225
5 KCNJ11 NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) SNV Pathogenic 8675 rs104894237 GRCh37: 11:17408878-17408878
GRCh38: 11:17387331-17387331
6 KCNJ11 NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) SNV Pathogenic 8677 rs104894248 GRCh37: 11:17408863-17408863
GRCh38: 11:17387316-17387316
7 KCNJ11 NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) SNV Pathogenic 8684 rs1404429785 GRCh37: 11:17409173-17409173
GRCh38: 11:17387626-17387626
8 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
9 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) SNV Pathogenic 435558 rs766891274 GRCh37: 11:17409233-17409233
GRCh38: 11:17387686-17387686
10 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
11 ABCC8 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) SNV Pathogenic 188931 rs72559716 GRCh37: 11:17416719-17416719
GRCh38: 11:17395172-17395172
12 ABCC8 NM_000352.5(ABCC8):c.2695-1G>C SNV Pathogenic 371626 rs1057517420 GRCh37: 11:17430065-17430065
GRCh38: 11:17408518-17408518
13 ABCC8 NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) SNV Pathogenic 235633 rs139964066 GRCh37: 11:17424218-17424218
GRCh38: 11:17402671-17402671
14 ABCC8 NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) SNV Pathogenic 495835 rs200670692 GRCh37: 11:17498262-17498262
GRCh38: 11:17476715-17476715
15 ABCC8 NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) Deletion Pathogenic 370210 rs1057516317 GRCh37: 11:17424284-17424284
GRCh38: 11:17402737-17402737
16 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) SNV Pathogenic 217846 rs863225280 GRCh37: 11:17483269-17483269
GRCh38: 11:17461722-17461722
17 ABCC8 NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) SNV Pathogenic 632619 rs367850779 GRCh37: 11:17424217-17424217
GRCh38: 11:17402670-17402670
18 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) SNV Pathogenic 370163 rs1057516281 GRCh37: 11:17419891-17419891
GRCh38: 11:17398344-17398344
19 ABCC8 NM_001287174.2(ABCC8):c.1176+2T>C SNV Pathogenic 633026 rs750586210 GRCh37: 11:17474664-17474664
GRCh38: 11:17453117-17453117
20 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) SNV Pathogenic 633027 rs1564977373 GRCh37: 11:17483257-17483257
GRCh38: 11:17461710-17461710
21 KCNJ11 NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) Microsatellite Pathogenic 988945 GRCh37: 11:17408745-17408747
GRCh38: 11:17387198-17387200
22 ABCC8 NM_001287174.2(ABCC8):c.2222+1G>T SNV Pathogenic 552779 rs1554923999 GRCh37: 11:17448595-17448595
GRCh38: 11:17427048-17427048
23 ABCC8 NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) Deletion Pathogenic 157696 rs587783169 GRCh37: 11:17426107-17426107
GRCh38: 11:17404560-17404560
24 ABCC8 NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) SNV Pathogenic 9086 rs387906407 GRCh37: 11:17417157-17417157
GRCh38: 11:17395610-17395610
25 ABCC8 NM_000352.6(ABCC8):c.2117-2A>T SNV Pathogenic 962983 GRCh37: 11:17448703-17448703
GRCh38: 11:17427156-17427156
26 ABCC8 NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) SNV Pathogenic 996301 GRCh37: 11:17434248-17434248
GRCh38: 11:17412701-17412701
27 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) Deletion Pathogenic 196880 rs151344624 GRCh37: 11:17417435-17417437
GRCh38: 11:17395888-17395890
28 ABCC8 NM_000352.6(ABCC8):c.3989-9G>A SNV Pathogenic 9088 rs151344623 GRCh37: 11:17418602-17418602
GRCh38: 11:17397055-17397055
29 ABCC8 , LOC110121471 NM_000352.5(ABCC8):c.2292-1G>A SNV Pathogenic 9090 rs1564905676 GRCh37: 11:17436158-17436158
GRCh38: 11:17414611-17414611
30 ABCC8 NM_000352.6(ABCC8):c.3446_3447GT[1] (p.Val1150fs) Microsatellite Likely pathogenic 550226 rs1263082097 GRCh37: 11:17426167-17426168
GRCh38: 11:17404620-17404621
31 KCNJ11 NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) SNV Likely pathogenic 435556 rs750414160 GRCh37: 11:17408771-17408771
GRCh38: 11:17387224-17387224
32 ABCC8 NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) SNV Likely pathogenic 35616 rs137852676 GRCh37: 11:17417399-17417399
GRCh38: 11:17395852-17395852
33 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Likely pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
34 ABCC8 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) SNV Likely pathogenic 188905 rs541269678 GRCh37: 11:17428964-17428964
GRCh38: 11:17407417-17407417
35 ABCC8 NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) SNV Likely pathogenic 633028 rs1382448285 GRCh37: 11:17432064-17432064
GRCh38: 11:17410517-17410517
36 KCNJ11 NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs) Microsatellite Likely pathogenic 556063 rs1554901829 GRCh37: 11:17409273-17409276
GRCh38: 11:17387726-17387729
37 KCNJ11 NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) SNV Likely pathogenic 557258 rs587783669 GRCh37: 11:17409141-17409141
GRCh38: 11:17387594-17387594
38 KCNJ11 NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) SNV Likely pathogenic 557416 rs954727530 GRCh37: 11:17409539-17409539
GRCh38: 11:17387992-17387992
39 KCNJ11 NM_000525.3(KCNJ11):c.290dup (p.His97fs) Duplication Likely pathogenic 557649 rs1554901854 GRCh37: 11:17409348-17409349
GRCh38: 11:17387801-17387802
40 KCNJ11 NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) Duplication Likely pathogenic 553023 rs1554901690 GRCh37: 11:17408867-17408868
GRCh38: 11:17387320-17387321
41 KCNJ11 NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) SNV Likely pathogenic 551187 rs1371185696 GRCh37: 11:17409079-17409079
GRCh38: 11:17387532-17387532
42 KCNJ11 NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) Duplication Likely pathogenic 555247 rs1337406718 GRCh37: 11:17408574-17408575
GRCh38: 11:17387027-17387028
43 KCNJ11 NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) SNV Likely pathogenic 8683 rs74339576 GRCh37: 11:17408737-17408737
GRCh38: 11:17387190-17387190
44 KCNJ11 NM_000525.3(KCNJ11):c.718dup (p.Met240fs) Duplication Likely pathogenic 555590 rs1554901718 GRCh37: 11:17408920-17408921
GRCh38: 11:17387373-17387374
45 KCNJ11 NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro) SNV Likely pathogenic 694392 rs1591695840 GRCh37: 11:17409274-17409274
GRCh38: 11:17387727-17387727
46 ABCC8 NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) SNV Likely pathogenic 587475 rs1564890766 GRCh37: 11:17427094-17427094
GRCh38: 11:17405547-17405547
47 ABCC8 NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) SNV Likely pathogenic 587515 rs149331388 GRCh37: 11:17418531-17418531
GRCh38: 11:17396984-17396984
48 ABCC8 NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) SNV Likely pathogenic 157683 rs368114790 GRCh37: 11:17464335-17464335
GRCh38: 11:17442788-17442788
49 KCNJ11 NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) SNV Likely pathogenic 211228 rs797045637 GRCh37: 11:17408773-17408773
GRCh38: 11:17387226-17387226
50 KCNJ11 NM_000525.4(KCNJ11):c.79C>T SNV Likely pathogenic 211226 rs752507753 GRCh37: 11:17409560-17409560
GRCh38: 11:17388013-17388013

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

72 (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
14.2 SST INS H4C8 H4C6 H4C4 H4C3
2
Show member pathways
13.89 INS H4C8 H4C6 H4C4 H4C3 H4C2
3
Show member pathways
13.87 HNF4A H4C8 H4C6 H4C4 H4C3 H4C2
4
Show member pathways
13.85 INS H4C8 H4C6 H4C4 H4C3 H4C2
5
Show member pathways
13.83 INS H4C8 H4C6 H4C4 H4C3 H4C2
6
Show member pathways
13.63 INS HNF4A H4C8 H4C6 H4C4 H4C3
7
Show member pathways
13.54 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
8
Show member pathways
13.34 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
9
Show member pathways
13.3 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
10
Show member pathways
13.2 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
11
Show member pathways
13.17 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
12
Show member pathways
13.14 H4C8 H4C6 H4C4 H4C3 H4C2 H4C14
13
Show member pathways
12.9 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
14
Show member pathways
12.72 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
15
Show member pathways
12.69 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
16 12.58 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
17
Show member pathways
12.57 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
18
Show member pathways
12.43 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
19
Show member pathways
12.41 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
20
Show member pathways
12.39 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
21
Show member pathways
12.12 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
22
Show member pathways
11.97 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
23
Show member pathways
11.91 KCNJ11 INS HNF4A ABCC8
24 11.85 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
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 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.34 HNF4A H4C8 H4C6 H4C4 H4C3 H4C2
2 extracellular region GO:0005576 10.28 SST INS H4C8 H4C6 H4C4 H4C3
3 nucleoplasm GO:0005654 10.27 HNF4A H4C8 H4C6 H4C4 H4C3 H4C2
4 extracellular exosome GO:0070062 10.25 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
5 protein-containing complex GO:0032991 10.15 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
6 host cell nucleus GO:0042025 10.1 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
7 chromosome, telomeric region GO:0000781 10.03 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
8 nuclear chromosome GO:0000228 9.93 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
9 chromosome GO:0005694 9.77 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
10 inward rectifying potassium channel GO:0008282 9.48 KCNJ11 ABCC8
11 nucleosome GO:0000786 9.44 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15

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 10.31 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
2 negative regulation of gene expression, epigenetic GO:0045814 10.3 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
3 negative regulation of megakaryocyte differentiation GO:0045653 10.29 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
4 regulation of megakaryocyte differentiation GO:0045652 10.27 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
5 CENP-A containing nucleosome assembly GO:0034080 10.26 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
6 telomere organization GO:0032200 10.23 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
7 telomere capping GO:0016233 10.21 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
8 DNA-templated transcription, initiation GO:0006352 10.18 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
9 DNA replication-independent nucleosome assembly GO:0006336 10.15 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
10 DNA replication-dependent nucleosome assembly GO:0006335 10.1 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
11 nucleosome assembly GO:0006334 10.03 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
12 double-strand break repair via nonhomologous end joining GO:0006303 9.93 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
13 chromatin silencing at rDNA GO:0000183 9.73 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
14 regulation of insulin secretion GO:0050796 9.72 KCNJ11 HNF4A ABCC8
15 inorganic cation transmembrane transport GO:0098662 9.56 KCNJ11 ABCC8
16 cellular protein metabolic process GO:0044267 9.44 INS H4C8 H4C6 H4C4 H4C3 H4C2

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 10.35 SST KCNJ11 INS HNF4A H4C8 H4C6
2 RNA binding GO:0003723 10.03 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
3 DNA binding GO:0003677 10 HNF4A H4C8 H4C6 H4C4 H4C3 H4C2
4 protein domain specific binding GO:0019904 9.73 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
5 hormone activity GO:0005179 9.61 SST INS GAST
6 protein heterodimerization activity GO:0046982 9.44 H4C8 H4C6 H4C4 H4C3 H4C2 H4C15
7 cation-transporting ATPase activity GO:0019829 9.4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....