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 Octreotide 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 253)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 31.3 ABCC8 INS KCNJ11
2 hyperinsulinemic hypoglycemia 30.7 ABCC8 HNF4A INS KCNJ11 SST
3 hyperinsulinism 30.5 ABCC8 HNF4A INS KCNJ11 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 usher syndrome, type ic 30.1 ABCC8 KCNJ11
8 vipoma 30.1 CHGA SST
9 insulinoma 30.1 ABCC8 CHGA INS SST
10 zollinger-ellison syndrome 30.1 CHGA SST
11 neonatal diabetes mellitus 30.1 ABCC8 INS KCNJ11
12 diabetes mellitus 30.0 ABCC8 HNF4A INS KCNJ11 SST
13 gastrinoma 29.9 CHGA INS SST
14 maturity-onset diabetes of the young 29.9 ABCC8 HNF4A INS KCNJ11
15 monogenic diabetes 29.9 ABCC8 HNF4A INS KCNJ11
16 hyperglycemia 29.8 ABCC8 INS KCNJ11 SST
17 insulinomatosis and diabetes mellitus 29.7 ABCC8 CHGA INS SST
18 hyperinsulinemic hypoglycemia, familial, 7 12.5
19 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.4
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 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.2
27 ovarian cancer 11.1
28 horns in sheep 10.9
29 munchausen by proxy 10.4 ABCC8 KCNJ11
30 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
31 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
32 fibromyalgia 10.3
33 hirata disease 10.3 ABCC8 INS
34 fanconi-bickel syndrome 10.3 ABCC8 INS
35 maturity-onset diabetes of the young, type 10 10.3 INS KCNJ11
36 maturity-onset diabetes of the young, type 2 10.3 HNF4A INS
37 duodenal somatostatinoma 10.3 INS SST
38 postgastrectomy syndrome 10.3 INS SST
39 cantu syndrome 10.3 ABCC8 KCNJ11
40 pancreatic endocrine carcinoma 10.3 INS SST
41 maturity-onset diabetes of the young, type 3 10.3 HNF4A INS
42 hyperpituitarism 10.3 INS SST
43 dumping syndrome 10.3 INS SST
44 functional gastric disease 10.2 INS SST
45 gastrointestinal neuroendocrine benign tumor 10.2 CHGA SST
46 gastrointestinal neuroendocrine tumor 10.2 CHGA SST
47 gastric neuroendocrine neoplasm 10.2 CHGA SST
48 pituitary carcinoma 10.2 CHGA SST
49 pancreatic agenesis 10.2 ABCC8 INS KCNJ11
50 thiamine-responsive megaloblastic anemia syndrome 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
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
3
lanreotide Approved Phase 4 108736-35-2
4
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
5
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
6
Verapamil Approved Phase 4 52-53-9 2520
7
Liraglutide Approved Phase 4 204656-20-2 44147092
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Hormones Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Angiopeptin Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
14 Vasodilator Agents Phase 4,Phase 2,Phase 3
15 Incretins Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 HIV Protease Inhibitors Phase 4
17 Anti-Arrhythmia Agents Phase 4,Early Phase 1
18 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
19
protease inhibitors Phase 4
20 calcium channel blockers Phase 4
21 Sitagliptin Phosphate Phase 4
22 Dipeptidyl-Peptidase IV Inhibitors Phase 4
23 Calcium, Dietary Phase 4
24 Cardiac Glycosides Phase 4,Phase 2
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 2,Phase 1,Early Phase 1,Not Applicable 141758-74-9 15991534
34
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
35
tannic acid Approved Phase 1, Phase 2 1401-55-4
36
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
37
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
38
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
39
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
40 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
41 Anti-Obesity Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
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 Antibiotics, Antitubercular Phase 1, Phase 2
48 Immunologic Factors Phase 1, Phase 2,Early Phase 1
49 Antifungal Agents Phase 1, Phase 2
50 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 41)
# 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 Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
6 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
7 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
8 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
9 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
10 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
11 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
12 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
13 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
14 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
15 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
16 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
17 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
18 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
19 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
20 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
21 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
22 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
23 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
24 Fluorodopa F 18 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 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
27 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
28 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
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 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
32 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
33 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
34 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
35 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
36 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
37 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
38 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
39 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
40 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
41 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, Spleen, Pituitary

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 314)
# Title Authors Year
1
Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism. ( 30817313 )
2019
2
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia. ( 30246418 )
2019
3
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism. ( 30311139 )
2019
4
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. ( 30343978 )
2019
5
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8. ( 30730840 )
2019
6
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. ( 30797057 )
2019
7
News: FDA Reviews NDA for 18F-FDOPA in Congenital Hyperinsulinism. ( 30824673 )
2019
8
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism. ( 30873120 )
2019
9
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
10
CORRIGENDUM FOR "Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2". ( 29538671 )
2018
11
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
12
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2018
13
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
14
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
15
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
16
Genetic characteristics of patients with congenital hyperinsulinism. ( 29750770 )
2018
17
Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism. ( 29503277 )
2018
18
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
19
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. ( 29558846 )
2018
20
Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience. ( 29599801 )
2018
21
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
22
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
23
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
24
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F <i> <i>ABCC8</i> </i> mutation. ( 29739729 )
2018
25
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. ( 30026763 )
2018
26
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. ( 30029695 )
2018
27
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
28
Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism. ( 30086540 )
2018
29
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". ( 30097611 )
2018
30
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. ( 30186238 )
2018
31
The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. ( 30246438 )
2018
32
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( 30247666 )
2018
33
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions. ( 30386300 )
2018
34
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. ( 30462810 )
2018
35
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism. ( 30577875 )
2018
36
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
37
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
38
Congenital Hyperinsulinism. ( 29131920 )
2017
39
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. ( 28242437 )
2017
40
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
41
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
42
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
43
Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. ( 28701683 )
2017
44
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
45
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
46
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
47
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
48
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy. ( 29246172 )
2017
49
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
50
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
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 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_000352.4(ABCC8): c.1562G> A (p.Arg521Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368114790 GRCh37 Chromosome 11, 17464335: 17464335
2 ABCC8 NM_000352.4(ABCC8): c.1562G> A (p.Arg521Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368114790 GRCh38 Chromosome 11, 17442788: 17442788
3 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
4 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
5 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
6 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
7 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
8 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
9 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
10 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
11 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
12 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
13 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
14 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
15 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
16 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
17 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
18 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
19 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh37 Chromosome 11, 17416719: 17416719
20 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh38 Chromosome 11, 17395172: 17395172
21 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
22 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh38 Chromosome 11, 17395888: 17395890
23 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh38 Chromosome 11, 17386949: 17386954
24 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh37 Chromosome 11, 17408496: 17408501
25 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
26 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
27 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
28 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
29 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
30 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
31 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
32 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
33 ABCC8 NM_001287174.1(ABCC8): c.683G> A (p.Gly228Asp) single nucleotide variant Pathogenic rs863225280 GRCh37 Chromosome 11, 17483269: 17483269
34 ABCC8 NM_001287174.1(ABCC8): c.683G> A (p.Gly228Asp) single nucleotide variant Pathogenic rs863225280 GRCh38 Chromosome 11, 17461722: 17461722
35 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
36 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
37 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
38 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
39 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
40 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
41 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
42 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
43 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
44 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
45 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
46 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
47 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
48 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
49 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17409173: 17409173
50 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17387626: 17387626

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 8.62 ABCC8 KCNJ11

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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