HHF2
MCID: HYP604
MIFTS: 62

Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2)

Categories: Blood diseases, Endocrine 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 58 13 74
Congenital Hyperinsulinism 25 54 26 76 74
Persistent Hyperinsulinemic Hypoglycemia of Infancy 58 25 54 76
Familial Hyperinsulinism 25 54 30 6
Nesidioblastosis 58 77 56 74
Phhi 58 25 54 76
Hhf2 58 12 54 76
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 58 12 54
Familial Hyperinsulinemic Hypoglycemia 2 12 76 15
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 12 60
Chi 25 54
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 60
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 60
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 60
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 60
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 60
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 58
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 54
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 60
Persistent Hyperinsulinemia Hypoglycemia of Infancy 26
Hyperinsulinemic Hypoglycemia, Persistent 58
Hypoglycemia Hyperinsulinemic of Infancy 54
Hyperinsulinemic Hypoglycemia Familial 2 54
Hyperinsulinemia Hypoglycemia of Infancy 26
Persistent Hyperinsulinemic Hypoglycemia 26
Hyperinsulinemic Hypoglycemia Familial 54
Familial Hyperinsulinemic Hypoglycemia 38
Infancy Hyperinsulinemia Hypoglycemia 26
Congenital Isolated Hyperinsulinism 54
Nesidioblastosis of Pancreas 54
Hyperinsulinism, Congenital 58
Hyperinsulinism Congenital 54
Hyperinsulinism, Neonatal 58
Hyperinsulinism, Familial 58
Neonatal Hyperinsulinism 26
Phhi Hypoglycemia 26
Hi-C 17

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

33
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

NIH Rare Diseases : 54 Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas 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 congenital hyperinsulinism, is related to hypoglycemia and hyperinsulinemic hypoglycemia. 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 Glycolysis / Gluconeogenesis and Fatty acid degradation. The drugs Somatostatin and lanreotide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and pancreatic islet, 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemia attributed to... more...

Description from OMIM: 601820
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 266)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 31.3 ABCC8 INS KCNJ11
2 hyperinsulinemic hypoglycemia 30.7 ABCC8 HNF4A INS KCNJ11 SST
3 zollinger-ellison syndrome 30.3 CHGA SST
4 acute insulin response 30.3 ABCC8 INS KCNJ11
5 islet cell tumor 30.3 CHGA INS SST
6 glucagonoma 30.2 CHGA SST
7 vipoma 30.2 CHGA SST
8 usher syndrome, type ic 30.1 ABCC8 KCNJ11
9 insulinoma 30.1 ABCC8 CHGA INS SST
10 maturity-onset diabetes of the young 30.1 ABCC8 HNF4A INS KCNJ11
11 neonatal diabetes mellitus 30.1 ABCC8 INS KCNJ11
12 hyperinsulinism 30.0 ABCC8 HNF4A INS KCNJ11 SST
13 diabetes mellitus 30.0 ABCC8 HNF4A INS KCNJ11 SST
14 gastrinoma 30.0 CHGA INS SST
15 monogenic diabetes 29.8 ABCC8 HNF4A INS KCNJ11
16 hyperglycemia 29.8 ABCC8 INS KCNJ11 SST
17 insulinomatosis and diabetes mellitus 29.6 ABCC8 CHGA INS SST
18 hyperinsulinemic hypoglycemia, familial, 7 12.5
19 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.5
20 hyperinsulinemic hypoglycemia, familial, 1 12.2
21 hyperinsulinemic hypoglycemia, familial, 3 11.7
22 hyperinsulinemic hypoglycemia, familial, 5 11.7
23 hyperinsulinemic hypoglycemia, familial, 4 11.7
24 hyperinsulinemic hypoglycemia, familial, 6 11.4
25 mahvash disease 11.2
26 ovarian cancer 11.1
27 horns in sheep 10.9
28 munchausen by proxy 10.4 ABCC8 KCNJ11
29 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
30 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
31 fibromyalgia 10.4
32 hirata disease 10.3 ABCC8 INS
33 fanconi-bickel syndrome 10.3 ABCC8 INS
34 maturity-onset diabetes of the young, type 10 10.3 INS KCNJ11
35 maturity-onset diabetes of the young, type 2 10.3 HNF4A INS
36 duodenal somatostatinoma 10.3 INS SST
37 postgastrectomy syndrome 10.3 INS SST
38 cantu syndrome 10.3 ABCC8 KCNJ11
39 pancreatic endocrine carcinoma 10.3 INS SST
40 maturity-onset diabetes of the young, type 3 10.3 HNF4A INS
41 hyperpituitarism 10.3 INS SST
42 dumping syndrome 10.3 INS SST
43 functional gastric disease 10.2 INS SST
44 gastrointestinal neuroendocrine benign tumor 10.2 CHGA SST
45 gastrointestinal neuroendocrine tumor 10.2 CHGA SST
46 gastric neuroendocrine neoplasm 10.2 CHGA SST
47 pituitary carcinoma 10.2 CHGA SST
48 pancreatic agenesis 10.2 ABCC8 INS KCNJ11
49 thiamine-responsive megaloblastic anemia syndrome 10.2 ABCC8 INS KCNJ11
50 diabetes mellitus, transient neonatal, 1 10.2 ABCC8 INS KCNJ11

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001649
8 pancreatic islet-cell hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004510
9 progressive neurologic deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002344
10 hypoketotic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001985
11 hypoglycemia 33 hallmark (90%) HP:0001943
12 reduced pancreatic beta cells 33 hallmark (90%) HP:0006274
13 abnormal circulating fatty-acid concentration 33 hallmark (90%) HP:0004359
14 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
15 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
16 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
17 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
18 vitamin b1 deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0100503
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
21 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713
22 large for gestational age 60 33 occasional (7.5%) Occasional (29-5%) HP:0001520
23 secondary growth hormone deficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0008240
24 decreased circulating cortisol level 60 33 occasional (7.5%) Occasional (29-5%) HP:0008163
25 drowsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002329
26 abnormal brain fdg positron emission tomography 60 33 occasional (7.5%) Occasional (29-5%) HP:0012658
27 cognitive impairment 60 Frequent (79-30%)
28 hyperinsulinemia 60 Very frequent (99-80%)
29 abnormality of fatty-acid metabolism 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Growth Other:
large for gestational age

Endocrine Features:
hyperinsulinemic hypoglycemia

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ABCC8 ATP6V0A1 CHGA HNF4A KCNJ11

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 ATP6V0A1 ATP6V0A4 CHGA EIF3B HNF4A INS

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 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
2
lanreotide Approved Phase 4 108736-35-2
3
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
4
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
7
Verapamil Approved Phase 4 52-53-9 2520
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Angiopeptin Phase 4
10 Hormones Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
12 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
14 Incretins Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
15 Vasodilator Agents Phase 4,Phase 2,Phase 3
16 Sitagliptin Phosphate Phase 4
17 Calcium, Dietary Phase 4
18
protease inhibitors Phase 4
19 HIV Protease Inhibitors Phase 4
20 Anti-Arrhythmia Agents Phase 4,Early Phase 1
21 Dipeptidyl-Peptidase IV Inhibitors Phase 4
22 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
23 Cardiac Glycosides Phase 4,Phase 2
24 calcium channel blockers Phase 4
25
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
26
Glucagon Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 16941-32-5
27
Dopamine Approved Phase 3,Phase 2,Phase 1 62-31-7, 51-61-6 681
28 Antihypertensive Agents Phase 2, Phase 3
29 Glucagon-Like Peptide 1 Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Dopamine Agents Phase 3,Phase 2,Phase 1
32 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
33
Exenatide Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
34
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
35
tannic acid Approved Phase 1, Phase 2 1401-55-4
36
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
37
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 5284616 6436030
39
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
40 Anti-Obesity Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
41 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
42 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
43 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
44 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
45 Pharmaceutical Solutions Phase 2
46 pancreatin Phase 2,Not Applicable
47 Antifungal Agents Phase 1, Phase 2
48 Immunologic Factors Phase 1, Phase 2,Early Phase 1
49 Anti-Bacterial Agents Phase 1, Phase 2
50 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 Pasireotide in the Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT03514576 Phase 4 Pasireotide 0.3 MG/ML
3 Treatment of Hypoglycemia Following Gastric Bypass Surgery Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
4 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
5 Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon in Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
6 Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
7 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
8 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Unknown status NCT03189953 Phase 1, Phase 2
9 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
10 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
11 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
12 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
13 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
14 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
15 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
16 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
17 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
18 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
19 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
20 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
21 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
22 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
23 GLP1R-imaging in Hypoglycemia Unknown status NCT03182192 Phase 1
24 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
25 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
26 Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
27 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
28 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
29 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
30 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
31 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
32 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
33 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
34 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
35 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
36 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
37 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
38 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
39 Application of Raw Corn Starch on Patients With Insulinoma Recruiting NCT03930368 Not Applicable
40 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
41 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
42 Role of Neural and Hormonal Regulation Factors on Insulin Secretion After Gastric Bypass Surgery Recruiting NCT00992901 Early Phase 1 Exendin-(9-39);Atropine;GLP-1 and GIP
43 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo

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 30 HNF4A

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

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

42
Pancreas, Brain, Pancreatic Islet, Testes, Prostate, Pituitary, Heart

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 316)
# Title Authors Year
1
Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism. ( 30817313 )
2019
2
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. ( 29558846 )
2019
3
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation ( 29739729 )
2019
4
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2019
5
Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism. ( 30086540 )
2019
6
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". ( 30097611 )
2019
7
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia. ( 30246418 )
2019
8
The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. ( 30246438 )
2019
9
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism. ( 30311139 )
2019
10
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. ( 30343978 )
2019
11
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8. ( 30730840 )
2019
12
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. ( 30797057 )
2019
13
News: FDA Reviews NDA for 18F-FDOPA in Congenital Hyperinsulinism. ( 30824673 )
2019
14
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism. ( 30873120 )
2019
15
A Newborn with Congenital Hyperinsulinism. ( 31002010 )
2019
16
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. ( 31110826 )
2019
17
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2018
18
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
19
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
20
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
21
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
22
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
23
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2018
24
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2. ( 29329447 )
2018
25
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
26
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
27
Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism. ( 29503277 )
2018
28
CORRIGENDUM FOR "Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2". ( 29538671 )
2018
29
Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience. ( 29599801 )
2018
30
Genetic characteristics of patients with congenital hyperinsulinism. ( 29750770 )
2018
31
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
32
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. ( 30026763 )
2018
33
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. ( 30029695 )
2018
34
Congenital hyperinsulinism treated by surgical resection of the hyperplastic lesion which had been preoperatively diagnosed by 18F-DOPA PET examination in Japan: a nationwide survey. ( 30076450 )
2018
35
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. ( 30186238 )
2018
36
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( 30247666 )
2018
37
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions. ( 30386300 )
2018
38
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. ( 30462810 )
2018
39
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism. ( 30577875 )
2018
40
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. ( 27967291 )
2017
41
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years. ( 28163940 )
2017
42
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. ( 28242437 )
2017
43
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. ( 28270372 )
2017
44
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. ( 28328534 )
2017
45
Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient. ( 28410602 )
2017
46
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
47
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
48
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
49
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). ( 28532504 )
2017
50
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

76 (show all 17)
# 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 top 50) (show all 140)
# 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.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
3 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
4 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
5 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
6 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
7 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
8 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
9 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
10 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
11 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
12 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
13 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
14 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
15 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17409173: 17409173
16 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17387626: 17387626
17 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
18 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
19 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
20 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh38 Chromosome 11, 17397055: 17397055
21 ABCC8 NM_000352.4(ABCC8): c.1332+17G> C single nucleotide variant Uncertain significance rs193922395 GRCh37 Chromosome 11, 17470046: 17470046
22 ABCC8 NM_000352.4(ABCC8): c.1332+17G> C single nucleotide variant Uncertain significance rs193922395 GRCh38 Chromosome 11, 17448499: 17448499
23 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
24 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh38 Chromosome 11, 17395852: 17395852
25 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
26 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
27 ABCC8 NM_000352.4(ABCC8): c.1562G> A (p.Arg521Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368114790 GRCh37 Chromosome 11, 17464335: 17464335
28 ABCC8 NM_000352.4(ABCC8): c.1562G> A (p.Arg521Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368114790 GRCh38 Chromosome 11, 17442788: 17442788
29 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
30 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
31 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
32 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
33 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
34 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
35 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
36 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
37 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
38 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
39 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
40 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
41 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
42 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
43 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
44 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
45 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh37 Chromosome 11, 17416719: 17416719
46 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh38 Chromosome 11, 17395172: 17395172
47 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
48 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh38 Chromosome 11, 17395888: 17395890
49 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh38 Chromosome 11, 17386949: 17386954
50 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh37 Chromosome 11, 17408496: 17408501

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:

38
# 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

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

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

# Name GO ID Score Top Affiliating Genes
1 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.26 ATP6V0A1 ATP6V0A4
2 proton-transporting V-type ATPase, V0 domain GO:0033179 9.16 ATP6V0A1 ATP6V0A4
3 inward rectifying potassium channel GO:0008282 8.96 ABCC8 KCNJ11
4 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 8.62 ATP6V0A1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 transferrin transport GO:0033572 9.4 ATP6V0A1 ATP6V0A4
2 ATP hydrolysis coupled proton transport GO:0015991 9.37 ATP6V0A1 ATP6V0A4
3 insulin receptor signaling pathway GO:0008286 9.33 ATP6V0A1 ATP6V0A4 INS
4 vacuolar acidification GO:0007035 9.32 ATP6V0A1 ATP6V0A4
5 negative regulation of blood vessel diameter GO:0097756 9.26 CHGA INS
6 regulation of insulin secretion GO:0050796 9.13 ABCC8 HNF4A KCNJ11
7 negative regulation of insulin secretion GO:0046676 8.8 ABCC8 CHGA KCNJ11

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.16 ATP6V0A1 ATP6V0A4
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.96 ATP6V0A1 ATP6V0A4
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.32 KCNJ11

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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