HHF2
MCID: HYP604
MIFTS: 55

Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 54 13 69
Persistent Hyperinsulinemic Hypoglycemia of Infancy 23 50 24 66
Congenital Hyperinsulinism 50 25 66 69
Familial Hyperinsulinism 23 50 24 29
Phhi 23 50 66
Hhf2 50 66
Fhi 23 24
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 56
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 56
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 56
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 50
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 56
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 56
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 56
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 50
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 56
Persistent Hyperinsulinemia Hypoglycemia of Infancy 25
Hypoglycemia Hyperinsulinemic of Infancy 50
Hyperinsulinemic Hypoglycemia Familial 2 50
Hyperinsulinemia Hypoglycemia of Infancy 25
Persistent Hyperinsulinemic Hypoglycemia 25
Familial Hyperinsulinemic Hypoglycemia 2 66
Hyperinsulinemic Hypoglycemia Familial 50
Infancy Hyperinsulinemia Hypoglycemia 25
Nesidioblastosis of Pancreas 50
Hyperinsulinism Congenital 50
Neonatal Hyperinsulinism 25
Phhi Hypoglycemia 25
Hyperinsulinemia 24
Hyperinsulinism 69

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance autosomal recessive inheritance heterogeneous


GeneReviews:

23
Penetrance Autosomal recessive fhi demonstrates nearly complete penetrance. some splice variants, particularly the abcc8 pathogenic variant common in the ashkenazi jewish population, present with markedly variable clinical severity; some homozygous individuals may be asymptomatic...

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 601820
ICD10 via Orphanet 34 E16.1
MedGen 40 C2931833

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

NIH Rare Diseases : 50 familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). in infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. mutations in at least seven genes have been found to cause this condition. it is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern. last updated: 12/21/2011

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 2, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 7 and hyperinsulinemic hypoglycemia, familial, 3, and has symptoms including seizures, vomiting and diarrhea. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Glucose / Energy Metabolism and Integration of energy metabolism. The drugs lanreotide and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and pancreatic islet, and related phenotypes are growth/size/body region and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 66 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.

Description from OMIM: 601820
GeneReviews: NBK1375

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

Diseases in the Hyperinsulinemic Hypoglycemia family:

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

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

(show top 50) (show all 95)
id Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 7 12.2
2 hyperinsulinemic hypoglycemia, familial, 3 12.2
3 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.1
4 fuchs' heterochromic uveitis 11.7
5 hyperinsulinemic hypoglycemia 11.2
6 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.9
7 hyperinsulinemic hypoglycemia, familial, 1 10.9
8 retinal vasculitis 10.8
9 noonan syndrome 3 10.3 ABCC8 KCNJ11
10 microcephaly, short stature, and impaired glucose metabolism 10.3 ABCC8 HADH
11 hemorrhagic fever 10.3 ABCC8 IGF2 KCNJ11
12 hyperinsulinism 10.3
13 diaphanospondylodysostosis 10.2 ABCC8 GCK
14 deafness, autosomal recessive 66 10.2 ABCC8 INS KCNJ11
15 post-vaccinal encephalitis 10.2 GAST SCT
16 nosophobia 10.2 ABCC8 GCK KCNJ11
17 tabes dorsalis 10.2 MEN1 SCT SST
18 wells-jankovic syndrome 10.2 SST VIP
19 neutral lipid storage disease with myopathy 10.2 IGF2 INS
20 urethra clear cell adenocarcinoma 10.2 INS MEN1 SST
21 breast fibroadenoma 10.2 IGF2 INS
22 choline deficiency disease 10.2 INS SST VIP
23 chudley-mccullough syndrome 10.2 GLUD1 INS SLC16A1
24 pemphigus foliaceus 10.2 MEN1 SST
25 tricuspid valve stenosis 10.1 GAST SCT SST
26 image syndrome 10.1 GLUD1 INS
27 abducens palsy 10.1 HADH HADHA
28 labyrinthine unilateral reactive loss 10.1 ABCC8 GCK INS KCNJ11
29 thrombophilia 10.1 IGF2 INS MEN1 SST
30 non-syndromic intellectual disability 10.1 ABCC8 GCK INS KCNJ11
31 antidepressant type abuse 10.1 GCK INS KCNJ11
32 focal segmental glomerulosclerosis 8 10.1 ABCC8 GCK INS KCNJ11
33 breast malignant eccrine spiradenoma 10.1 GAST MEN1 SCT
34 distal muscular dystrophy 10.1 ABCC8 GCK INS KCNJ11
35 mitochondrial complex ii deficiency 10.1 CHGA MEN1 SST
36 cowden syndrome 3 10.1 CHGA MEN1 SST
37 gerstmann syndrome 10.1 CHGA IGF2 INS
38 microphthalmia, syndromic 8 10.1 GCG INS
39 cardioauditory syndrome of sanchez cascos 10.1 CHGA MEN1 SST
40 autoimmune pancreatitis 10.1 CHGA GAST
41 adult brain stem glioma 10.1 GAST SCT VIP
42 retinal vascular occlusion 10.1 GAST INS SCT SST
43 parathyroid carcinoma 10.0 CHGA MEN1 SCT
44 edict syndrome 10.0 IGF2 INS SST
45 paranasal sinus cancer, adult 10.0 GAST INS MEN1 SST
46 gastric leiomyosarcoma 10.0 GCG IGF2
47 prostate leiomyosarcoma 10.0 GCG IGF2
48 sweat gland cancer 10.0 GAST SST VIP
49 mosaic trisomy 13 10.0 ABCC8 GCK HNF4A INS KCNJ11
50 acantholytic squamous cell skin carcinoma 10.0 GCG IGF2

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

Symptoms by clinical synopsis from OMIM:

601820

Clinical features from OMIM:

601820

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 vomiting 56 32 Frequent (79-30%) HP:0002013
3 diarrhea 56 32 Frequent (79-30%) HP:0002014
4 agitation 56 32 Occasional (29-5%) HP:0000713
5 lethargy 56 32 Very frequent (99-80%) HP:0001254
6 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
7 global developmental delay 56 32 Occasional (29-5%) HP:0001263
8 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
9 microcephaly 56 32 Frequent (79-30%) HP:0000252
10 pallor 56 32 Very frequent (99-80%) HP:0000980
11 coma 56 32 Very frequent (99-80%) HP:0001259
12 hyperinsulinemic hypoglycemia 56 32 Very frequent (99-80%) HP:0000825
13 secondary growth hormone deficiency 56 32 Occasional (29-5%) HP:0008240
14 neonatal hypoglycemia 56 32 Very frequent (99-80%) HP:0001998
15 decreased circulating cortisol level 56 32 Occasional (29-5%) HP:0008163
16 tachycardia 56 32 Very frequent (99-80%) HP:0001649
17 drowsiness 56 32 Occasional (29-5%) HP:0002329
18 abnormal brain fdg positron emission tomography 56 32 Occasional (29-5%) HP:0012658
19 pancreatic islet-cell hyperplasia 56 32 Very frequent (99-80%) HP:0004510
20 large for gestational age 56 32 Occasional (29-5%) HP:0001520
21 abnormality of fatty-acid metabolism 56 32 Very frequent (99-80%) HP:0004359
22 progressive neurologic deterioration 56 32 Very frequent (99-80%) HP:0002344
23 hypoketotic hypoglycemia 56 32 Very frequent (99-80%) HP:0001985
24 vitamin b1 deficiency 56 32 Frequent (79-30%) HP:0100503
25 cognitive impairment 56 Frequent (79-30%)
26 hypoglycemia 32 HP:0001943
27 hyperinsulinemia 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 HADHA HNF4A IGF2 INS KCNJ11 MEN1
2 endocrine/exocrine gland MP:0005379 10.06 ABCC8 CHGA GAST GCK GLUD1 HADH
3 homeostasis/metabolism MP:0005376 10.06 GAST GCK GLUD1 HADH HADHA HNF4A
4 liver/biliary system MP:0005370 9.5 IGF2 INS MEN1 SLC16A1 GCK HADHA
5 mortality/aging MP:0010768 9.44 CHGA GAST GCK HADHA HNF4A IGF2

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 113)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2
Octreotide Approved, Investigational Phase 4,Phase 2 83150-76-9 383414 6400441
3
Somatostatin Approved Phase 4,Phase 2 38916-34-6, 51110-01-1 53481605
4
Menthol Approved Phase 4 2216-51-5 16666
5
Cilnidipine Approved Phase 4 132203-70-4 5282138
6
Nifedipine Approved Phase 4 21829-25-4 4485
7
Benzocaine Approved Phase 4,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
8
Metformin Approved Phase 4 657-24-9 14219 4091
9 tannic acid Approved, Nutraceutical Phase 4,Phase 1,Phase 2
10 Angiopeptin Phase 4
11 Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
12 Hormones Phase 4,Phase 1,Phase 2,Early Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
14 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
15 insulin Phase 4,Phase 2
16 Insulin, Globin Zinc Phase 4,Phase 2
17 Vasodilator Agents Phase 4,Phase 2,Phase 3
18 calcium channel blockers Phase 4
19 Calcium, Dietary Phase 4
20 Tocolytic Agents Phase 4
21
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
22
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
23
Nelfinavir Approved Phase 3 159989-64-7 64143
24
Nevirapine Approved Phase 3 129618-40-2 4463
25
Zidovudine Approved Phase 3 30516-87-1 35370
26
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
27 Antihypertensive Agents Phase 2, Phase 3
28 Anti-HIV Agents Phase 3
29 Anti-Infective Agents Phase 3,Phase 1,Phase 2
30 Antimetabolites Phase 3
31 Anti-Retroviral Agents Phase 3
32 Antiviral Agents Phase 3
33 Cytochrome P-450 CYP3A Inducers Phase 3
34 HIV Protease Inhibitors Phase 3
35 Lamivudine, zidovudine drug combination Phase 3
36 Nucleic Acid Synthesis Inhibitors Phase 3
37
protease inhibitors Phase 3
38 Reverse Transcriptase Inhibitors Phase 3
39 Dopamine Agents Phase 3,Phase 2,Phase 1
40 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
41 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
42
Exenatide Approved, Investigational Phase 1, Phase 2,Early Phase 1 141758-74-9 15991534
43
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
44
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
45
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
46
Pancrelipase Approved Phase 2 53608-75-6
47
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
48
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
49 glucagon Phase 1, Phase 2, Early Phase 1
50 Glucagon-Like Peptide 1 Phase 1, Phase 2, Early Phase 1

Interventional clinical trials:

(show top 50) (show all 89)
id Name Status NCT ID Phase
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4
2 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4
3 A Study of the Effects of Exercise Intensity on Insulin Sensitivity in Overweight Youth Completed NCT00755547 Phase 4
4 Diet, Obesity and Genes (DiOGenes) Completed NCT00390637 Phase 4
5 The Effects of Cilnidipine on Metabolic Syndrome Improvement Completed NCT00325936 Phase 4
6 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Recruiting NCT02409238 Phase 4
7 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3
8 Evaluating the Effectiveness of a Community Exercise Program to Reduce the Risk of Metabolic Syndrome Among Black Americans Completed NCT00783445 Phase 3
9 Combination Treatment With and Without Protease Inhibitors for Women Who Begin Therapy for HIV Infection During Pregnancy Completed NCT00017719 Phase 3
10 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3
11 Effects of Leptin Replacement in Children Unknown status NCT00659828 Phase 2
12 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism Completed NCT02604485 Phase 2
13 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2
14 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2
15 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2
16 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2
17 The Medical College of Georgia PLAY Project: Exercise Dose and Insulin Sensitivity in Obese Children Completed NCT00108901 Phase 2
18 Study of Aramchol in Patients With Fatty Liver Disease or Nonalcoholic Steatohepatitis Completed NCT01094158 Phase 2
19 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Recruiting NCT02937558 Phase 2
20 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2
21 Sirolimus for the Treatment of Hyperinsulinism Recruiting NCT02524639 Phase 1, Phase 2
22 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Active, not recruiting NCT01468454 Phase 2
23 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Active, not recruiting NCT00674440 Phase 2
24 Pasireotide in Hyperinsulinemic Hypoglycemia Not yet recruiting NCT03053284 Phase 2
25 Insulin Resistance in Pulmonary Arterial Hypertension Terminated NCT00825266 Phase 2
26 Health of Young European Families and Fish Consumption Unknown status NCT00315770 Phase 1
27 Fluorodopa F 18 in Congenital Hyperinsulinism Recruiting NCT02021604 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
30 Reducing Disparities in Late Life Depression and Metabolic Syndrome Unknown status NCT01428791
31 Metabolic Syndrome as Modifiable Risk Factor for Breast Cancer Unknown status NCT01172886
32 Adipokines as Predictors of the Metabolic Syndrome in ALL Survivors Unknown status NCT00566566
33 Ginsenoside Improve Metabolic Syndrome Unknown status NCT02034136
34 Role of the Stress in the Development of the Metabolic Syndrome Unknown status NCT01538082
35 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
36 Physical Activity, Insulin Resistance and Function of Fat Tissue in the Offspring of Patients With Type 2 Diabetes Completed NCT00268541
37 Glucose Metabolism and Sleep in People With Family History of Type 2 Diabetes. Completed NCT00720889
38 Effects of a Comprehensive Weight Management Program on Obese Adolescents and Children Completed NCT00409422
39 A Family Based Intervention to Reduce the Risk of Type 2 Diabetes in Children Completed NCT01146314
40 Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism Completed NCT00465751 Early Phase 1
41 Insulin Resistance and Breast Cancer Completed NCT00304941
42 Endothelial Function in Young Hispanic Adults at Risk for Type 2 Diabetes Completed NCT01926938
43 Sleep Loss and Energy Metabolism in People With Family History of Type 2 Diabetes. Completed NCT00724087
44 Sleep Loss and Glucose Metabolism in People With Family History of Type 2 Diabetes. Completed NCT00721019
45 Does Class of Dietary Fat Affect Insulin Resistance? Completed NCT01541592
46 Family-Centered Diabetes Project - Sharing Wisdom Completed NCT00438126
47 Family Linkage Study of Obstructive Sleep Apnea (OSA) in Iceland Completed NCT00083798
48 Inflammatory Profiles of Children at High Risk for Atherosclerosis Completed NCT00115232
49 Insulin Resistance and Insulin Secretion Completed NCT00073294
50 Metabolic Effects of Subchronic Dopamine D2 Receptor Blockade by Antipsychotic Drugs in Healthy Humans Completed NCT00625170

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

id Genetic test Affiliating Genes
1 Familial Hyperinsulinism 29 24 UCP2

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

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

39
Brain, Pancreas, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Leu147Pro VAR_001557 rs28936678
2 KCNJ11 p.Lys67Asn VAR_026506
3 KCNJ11 p.Trp91Arg VAR_026507
4 KCNJ11 p.Pro254Leu VAR_026513
5 KCNJ11 p.Arg34His VAR_031329
6 KCNJ11 p.Gly40Asp VAR_031330
7 KCNJ11 p.Phe55Leu VAR_031335
8 KCNJ11 p.Ala101Asp VAR_031336
9 KCNJ11 p.Ser116Pro VAR_031337
10 KCNJ11 p.Gly134Ala VAR_031338
11 KCNJ11 p.Arg136Leu VAR_031339
12 KCNJ11 p.His259Arg VAR_031345
13 KCNJ11 p.Pro266Leu VAR_031346
14 KCNJ11 p.Arg301His VAR_031347
15 KCNJ11 p.Gly156Arg VAR_073683
16 KCNJ11 p.Asp204Glu VAR_073685
17 KCNJ11 p.Glu282Lys VAR_073687

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

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
2 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
3 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
4 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
5 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
6 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
7 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
8 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
9 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
10 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
11 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
12 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
13 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
14 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
15 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
16 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
17 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
18 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
19 ABCC8 NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417439: 17417441
20 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
21 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
22 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
23 ABCC8 ABCC8, EX13DEL deletion Pathogenic
24 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
25 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
26 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195
27 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560
28 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
29 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
30 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
31 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
32 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
33 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
34 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
35 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
36 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
37 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
38 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
39 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
40 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
41 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh37 Chromosome 11, 17464266: 17464266
42 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.19 GCG GLUD1 HNF4A INS UCP2
2
Show member pathways
12.07 ABCC8 GCG INS KCNJ11
3
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12.05 ABCC8 GCG GCK INS KCNJ11
4
Show member pathways
11.61 GCK HNF4A INS
5
Show member pathways
11.34 ABCC8 GCK HNF4A INS KCNJ11
6 10.81 ABCC8 GCK HADH HNF4A INS KCNJ11
7
Show member pathways
10.37 HADH HADHA
8 10.18 GAST SCT VIP

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 CHGA GAST GCG IGF2 INS SCT
2 mitochondrion GO:0005739 9.28 ABCC12 ABCC8 GCK GLUD1 HADH HADHA
3 ATP-sensitive potassium channel complex GO:0008282 8.96 ABCC8 KCNJ11

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.77 ABCC8 HADH HADHA KCNJ11 SST
2 response to insulin GO:0032868 9.63 ABCC8 HADH HADHA
3 cellular response to glucose stimulus GO:0071333 9.58 KCNJ11 MEN1 UCP2
4 glucose homeostasis GO:0042593 9.56 GCK HNF4A INS SLC16A1
5 cellular glucose homeostasis GO:0001678 9.51 ABCC8 GCK
6 negative regulation of insulin secretion GO:0046676 9.5 ABCC8 HADH KCNJ11
7 negative regulation of gluconeogenesis GO:0045721 9.49 GCK INS
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.48 IGF2 INS
9 glucose metabolic process GO:0006006 9.46 GCK IGF2 INS KCNJ11
10 negative regulation of vasodilation GO:0045908 9.43 CHGA INS
11 positive regulation of glycogen biosynthetic process GO:0045725 9.13 GCK IGF2 INS
12 regulation of insulin secretion GO:0050796 9.1 ABCC8 GCG GCK HNF4A KCNJ11 SLC16A1

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

id Name GO ID Score Top Affiliating Genes
1 NAD+ binding GO:0070403 9.32 GLUD1 HADH
2 insulin-like growth factor receptor binding GO:0005159 9.26 IGF2 INS
3 hormone activity GO:0005179 9.17 GAST GCG IGF2 INS SCT SST
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADH HADHA
5 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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48 NDF-RT
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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