Hyperinsulinemic Hypoglycemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP050 MIFTS: 57	Hyperinsulinemic Hypoglycemia Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Hyperinsulinemic Hypoglycemia

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia:

Name: Hyperinsulinemic Hypoglycemia ¹² ²⁹ ⁶ ¹⁵ ¹⁷ ⁷¹

Islet Cell Hyperplasia ¹² ²⁹ ⁶

Nesidioblastosis ¹² ⁴⁴ ⁷¹

Persistent Hyperinsulinemia Hypoglycemia of Infancy ¹² ⁶

Hyperinsulinemic Hypoglycaemia ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Fetal diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Other disorders of glucose regulation and pancreatic internal secretion

Other disorders of pancreatic internal secretion

Disorder of pancreatic internal secretion, unspecified

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

Disease Ontology ¹² DOID:13317

MeSH ⁴⁴ D046768

NCIt ⁵⁰ C4375

SNOMED-CT ⁶⁷ 42681006

ICD10 ³² E16.9

Orphanet ⁵⁸ ORPHA443095

EFO ¹⁷ EFO_0007318

UMLS ⁷¹ C0027773 C1864903

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Summaries for Hyperinsulinemic Hypoglycemia

Disease Ontology : ¹² A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, also known as islet cell hyperplasia, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 7. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs Glucagon and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : ⁷⁴ Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

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Related Diseases for Hyperinsulinemic Hypoglycemia

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)

#	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinemic hypoglycemia, familial, 1	33.4	KCNJ11 H2AC18 ABCC8
2	hyperinsulinemic hypoglycemia, familial, 7	33.3	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3	hyperinsulinemic hypoglycemia, familial, 2	33.2	SST KCNJ11 INS HNF4A H2AC18 ABCC8
4	hyperinsulinemic hypoglycemia, familial, 6	33.1	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
5	hyperinsulinemic hypoglycemia, familial, 3	32.9	H2AC18 GCK
6	hypoglycemia	31.6	SST SLC16A1 KCNJ11 INSR INS IGF2
7	insulinoma	31.2	SST PDX1 MEN1 MAFA INS GCK
8	dumping syndrome	31.1	SST INS GCG
9	hyperinsulinism	31.1	SST SLC16A1 KCNJ11 INSR INS IGF2
10	fasting hypoglycemia	31.0	INSR IGF2 GLUD1
11	fetal macrosomia	30.8	INSR INS IGF2
12	3-hydroxyacyl-coa dehydrogenase deficiency	30.8	HADH GLUD1 GCK
13	neonatal diabetes	30.7	PDX1 KCNJ11 INS GCK ABCC8
14	beckwith-wiedemann syndrome	30.7	MEN1 KCNJ11 INS IGF2 H2AC18 ABCC8
15	asphyxia neonatorum	30.6	SLC16A1 KCNJ11 INS HADH ABCC8
16	gestational diabetes	30.6	KCNJ11 INSR INS HNF4A GCK GCG
17	factitious disorder	30.5	KCNJ11 INS GCK ABCC8
18	hyperglycemia	30.5	SST PDX1 KCNJ11 INSR INS HNF4A
19	donohue syndrome	30.5	INSR INS GCK
20	glucose intolerance	30.5	SST KCNJ11 INSR INS GCK GCG
21	islet cell tumor	30.5	SST MEN1 INSR INS IGF2 GCG
22	gastrointestinal stromal tumor	30.4	SST MEN1 IGF2 HNF4A
23	multiple endocrine neoplasia, type i	30.4	SST PDX1 MEN1 INS H2AC18 GCG
24	abdominal obesity-metabolic syndrome 1	30.4	INSR INS GCK GCG
25	gastrinoma	30.2	SST MEN1 INS
26	hypoglycemic coma	30.2	INS IGF2 GCG
27	permanent neonatal diabetes mellitus	30.1	PDX1 KCNJ11 INS HNF4A GCKR GCK
28	type 1 diabetes mellitus	30.1	SST PDX1 INSR INS IGF2 HNF4A
29	pituitary gland disease	30.1	SST MEN1 INS H2AC18 GCG
30	meckel diverticulum	29.8	SST GCG
31	teratoma	29.8	SST INS GCG
32	maturity-onset diabetes of the young	29.7	SST SLC16A1 PDX1 MAFA KCNJ11 INS
33	type 2 diabetes mellitus	29.7	SST PDX1 KCNJ11 INSR INS IGF2
34	diabetes mellitus	29.1	SST PMM2 PDX1 MEN1 MAFA KCNJ11
35	hyperinsulinemic hypoglycemia, familial, 5	11.9
36	hyperinsulinemic hypoglycemia, familial, 4	11.9
37	insulinomatosis and diabetes mellitus	11.3
38	3-alpha hydroxyacyl-coa dehydrogenase deficiency	11.3
39	diazoxide-resistant diffuse hyperinsulinism	11.2
40	diazoxide-sensitive diffuse hyperinsulinism	11.2
41	hyperinsulinism due to hnf4a deficiency	11.2
42	diazoxide-resistant hyperinsulinism	11.2
43	hyperinsulinism due to ucp2 deficiency	11.2
44	hyperinsulinism due to hnf1a deficiency	11.2
45	diazoxide-resistant focal hyperinsulinism	11.2
46	microcephaly, short stature, and impaired glucose metabolism 1	11.1
47	mahvash disease	11.1
48	munchausen by proxy	10.4	KCNJ11 GCK ABCC8
49	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	10.4	INSR INS
50	fetal erythroblastosis	10.4	HADH GLUD1

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

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Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	9.64	MEN1
2	Decreased viability	GR00221-A-1	9.64	GCK GCKR INSR
3	Decreased viability	GR00221-A-2	9.64	GCK INSR
4	Decreased viability	GR00221-A-3	9.64	GCK INSR
5	Decreased viability	GR00221-A-4	9.64	GCK GCKR INSR
6	Decreased viability	GR00240-S-1	9.64	SST
7	Decreased viability	GR00249-S	9.64	GCG HADH MAFA
8	Decreased viability	GR00386-A-1	9.64	ALG3 FOXA2 GCG HNF4A SLC16A1
9	Decreased viability	GR00402-S-2	9.64	GLUD1

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.3	ABCC8 ALG3 FOXA2 GCK GLUD1 HADH
2	homeostasis/metabolism	MP:0005376	10.25	ABCC8 FOXA2 GCK GCKR GLUD1 HADH
3	endocrine/exocrine gland	MP:0005379	10.22	ABCC8 FOXA2 GCK GLUD1 HADH HNF4A
4	digestive/alimentary	MP:0005381	10.03	FOXA2 IGF2 INS INSR MEN1 PDX1
5	adipose tissue	MP:0005375	10	FOXA2 HADH INS INSR KCNJ11 SLC16A1
6	liver/biliary system	MP:0005370	10	FOXA2 GCK GCKR HNF4A IGF2 INS
7	mortality/aging	MP:0010768	9.97	ALG3 FOXA2 GCK HNF4A IGF2 INS
8	no phenotypic analysis	MP:0003012	9.5	ABCC8 IGF2 INS KCNJ11 MAFA PDX1
9	renal/urinary system	MP:0005367	9.28	GCK HADH HNF4A IGF2 INS INSR

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Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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

(show all 31)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Glucagon

Approved

Phase 2

16941-32-5

Gastrointestinal Agents

Phase 2

Acarbose

Approved, Investigational

Phase 1

56180-94-0

441184

Octreotide

Approved, Investigational

Phase 1

83150-76-9

383414 6400441

Lactitol

Approved, Investigational

Phase 1

585-86-4

157355

Exenatide

Approved, Investigational

Phase 1

141758-74-9

15991534

Cardiac Glycosides

Phase 1

Glycoside Hydrolase Inhibitors

Phase 1

Insulin, Globin Zinc

Phase 1

Hypoglycemic Agents

Phase 1

insulin

Phase 1

Glucagon-Like Peptide 1

Phase 1

Incretins

Phase 1

Anti-Obesity Agents

Phase 1

Insulin aspart

Approved

116094-23-6

16132418

Diazepam

Approved, Illicit, Investigational, Vet_approved

439-14-5

3016

Canagliflozin

Approved

842133-18-0

Somatostatin

Approved, Investigational

51110-01-1, 38916-34-6

53481605

Dopamine

Approved

51-61-6, 62-31-7

681

Cysteine

Approved, Nutraceutical

Early Phase 1

52-90-4

5862

Dehydroepiandrosterone

Approved, Investigational, Nutraceutical

Early Phase 1

53-43-0

5881

gastric inhibitory polypeptide

Investigational

100040-31-1

Immunologic Factors

Early Phase 1

DHEA (Dehydroepiandrosterone)

Early Phase 1

Adjuvants, Immunologic

Early Phase 1

Nutrients

Sodium-Glucose Transporter 2 Inhibitors

Dihydroxyphenylalanine

Dopamine Agents

Neurotransmitter Agents

Fluorides

Interventional clinical trials:

(show all 18)

#	Name	Status	NCT ID	Phase	Drugs
1	Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass	Completed	NCT03984370	Phase 2	ZP4207
2	A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery	Completed	NCT03770637	Phase 2	Glucagon RTU
3	A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia	Completed	NCT01468454	Phase 2	18 F-DOPA
4	A Phase 2 Multi-Ascending Dose Trial to Assess the Efficacy, Tolerability and Pharmacokinetic Profile of Exendin (9-39) in Patients With Post-bariatric Hyperinsulinemic Hypoglycemia	Completed	NCT02771574	Phase 2	Lyo avexitide;Liq avexitide
5	Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia	Withdrawn	NCT03053284	Phase 2	Pasireotide 0.6Mg Solution for Injection;Saline Solution
6	Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery	Unknown status	NCT02996812	Phase 1	Exendin (9-39)
7	A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB	Completed	NCT02685852	Phase 1	Exenatide;Acarbose;Placebo
8	Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia	Recruiting	NCT03103009	Phase 1	Pasireotide
9	Visualizing Beta Cells in Patients With Hyperinsulinemic Hypoglycemia After Bariatric Surgery	Recruiting	NCT03182192	Phase 1
10	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
11	Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia	Completed	NCT01933490
12	Hypoglycemia Associated Autonomic Failure in Type 1 DM, Question 3	Completed	NCT00607646	Early Phase 1	Dehydroepiandrosterone;Placebo
13	Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia	Recruiting	NCT03930368
14	Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia	Recruiting	NCT04615546
15	Canagliflozin: a New Therapeutic Option in Patients That Present Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y-gastric By-pass	Recruiting	NCT04720859		Canagliflozin 300 MG Oral Tablet
16	Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia	Available	NCT01916148		18F-DOPA
17	Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia	Available	NCT02835131		Pasireotide
18	Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia	No longer available	NCT02533219		18 F-DOPA

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Cochrane evidence based reviews: nesidioblastosis

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Genetic Tests for Hyperinsulinemic Hypoglycemia

Genetic tests related to Hyperinsulinemic Hypoglycemia:

#	Genetic test	Affiliating Genes
1	Islet Cell Hyperplasia ²⁹	KCNJ11
2	Hyperinsulinemic Hypoglycemia ²⁹

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Anatomical Context for Hyperinsulinemic Hypoglycemia

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

⁴⁰

Pancreas, Pancreatic Islet, Kidney, Pituitary, Brain, Spleen, B Cells

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Publications for Hyperinsulinemic Hypoglycemia

Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 1168)

#	Title	Authors	PMID	Year
1	Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. ⁶¹ ⁶	Matsuo M...Ueda K	10993895	2000
2	A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. ⁶¹ ⁶	Otonkoski T...Thomas PM	10334322	1999
3	Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. ⁶¹ ⁶	Verkarre V...Junien C	9769320	1998
4	Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. ⁶¹ ⁶	Thomas PM...Cote GJ	8751851	1996
5	Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. ⁶¹ ⁶	Thomas PM...Bryan J	7716548	1995
6	Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. ⁶¹ ⁶	Thomas PM...Mathew PM	7847376	1995
7	Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. ⁶	Boodhansingh KE...Stanley CA	31464105	2019
8	Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. ⁶	Flanagan SE...Ellard S	23273570	2013
9	Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. ⁶	Flanagan S...Ellard S	21978130	2012
10	Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. ⁶	Flanagan SE...Ellard S	20573158	2011
11	The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. ⁶	Banerjee I...Clayton PE	21378087	2011
12	Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. ⁶	Taneja TK...Sivaprasadarao A	19357197	2009
13	Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. ⁶	Pinney SE...Stanley CA	18596924	2008
14	Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. ⁶	Henwood MJ...Stanley CA	15562009	2005
15	Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. ⁶	Tornovsky S...Glaser B	15579781	2004
16	Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. ⁶	Thornton PS...Stanley CA	12941782	2003
17	A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. ⁶	Huopio H...Laakso M	12559865	2003
18	Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. ⁶	Huopio H...Otonkoski T	11018078	2000
19	Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. ⁶	Glaser B...Permutt MA	10447255	1999
20	Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. ⁶	Thornton PS...Stanley CA	9469993	1998
21	A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. ⁶	Nestorowicz A...Permutt MA	9356020	1997
22	Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. ⁶	Nestorowicz A...Permutt MA	8923011	1996
23	Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. ⁶¹	Dorval G...Heidet L	33580824	2021
24	Necrotizing Enterocolitis in Neonates With Hyperinsulinemic Hypoglycemia Treated With Diazoxide. ⁶¹	Keyes ML...Matute JD	33483452	2021
25	A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease. ⁶¹	Zeiad RKHM...Wood JR	33490854	2021
26	Minimally Invasive Conversion of a Gastric Bypass into Sleeve Gastrectomy for Postprandial Hyperinsulinemic Hypoglycemia. ⁶¹	Hesse UJ...Stein HJ	33537949	2021
27	Imaging of Insulinoma by Targeting Glucagonlike Peptide-1 Receptor. ⁶¹	Luo Y...Chen X	33589387	2021
28	Symptomatic Hypoglycemia After Gastric Bypass: Incidence and Predictive Factors in a Cohort of 1,138 Consecutive Patients. ⁶¹	Bienvenot R...Quilliot D	33608995	2021
29	Successful treatment of adult-onset nesidioblastosis by continuous subcutaneous octreotide infusion in a patient on hemodialysis. ⁶¹	Kato R...Mori Y	33489173	2021
30	Successful Control of Hypoglycemia with Pasireotide LAR in a Patient with Inappropriate Insulin Secretion. ⁶¹	Rouland A...Verges B	33574715	2021
31	Conjugated hyperbilirubinemia among infants with hyperinsulinemic hypoglycemia. ⁶¹	Edwards M...Harrington J	33469712	2021
32	Ectopic insulin secretion by a large-cell neuroendocrine carcinoma of the cervix. ⁶¹	Wang M...Mclean M	33505694	2021
33	Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis. ⁶¹	Chen X...Qin Y	33571197	2021
34	Laparoscopic Gastric Bypass Reversal with Concomitant Sleeve Gastrectomy (SG) for Refractory Hypoglycemia: an Unusual Procedure. ⁶¹	Tayar C...Ghazale A	33165754	2021
35	Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature. ⁶¹	He B...Zhou Z	32935446	2021
36	A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. ⁶¹	De Mingo Alemany MC...Leon Carinena S	32336187	2020
37	Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes. ⁶¹	Li M...Ji L	33300273	2020
38	Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. ⁶¹	G?emes M...Shah P	32185602	2020
39	Utility of 68 Ga-DOTA-Exendin-4 PET/CT imaging in distinguishing between insulinoma and nesidioblastosis in patients with confirmed endogenous hyperinsulinaemic hypoglycaemia. ⁶¹	Kalff V...Hicks RJ	33314504	2020
40	The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway ⁶¹	Siklar Z...Berberoglu M	32157856	2020
41	Receptor-Targeted Photodynamic Therapy of Glucagon-Like Peptide 1 Receptor-Positive Lesions. ⁶¹	Boss M...Gotthardt M	32385165	2020
42	Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia. ⁶¹	Vuralli D...Alikasifoglu M	33224014	2020
43	Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case. ⁶¹	Nasir S...Abbas A	33365210	2020
44	Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. ⁶¹	Piro E...Corsello G	32948218	2020
45	Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia. ⁶¹	Muhlhausen C...Marquardt T	32905087	2020
46	Pulmonary Hypertension Following Increased Dosing of Diazoxide in an Infant. ⁶¹	Ohnishi Y...Hasegawa S	32921661	2020
47	Insulin autoimmune syndrome: A rare cause of hypoglycemia. ⁶¹	Maheshwari TM...Maheshwari BB	33209842	2020
48	Pitfalls in the Detection of Insulinomas With Glucagon-Like Peptide-1 Receptor Imaging. ⁶¹	Antwi K...Wild D	32558709	2020
49	[Intermittent disturbances of perception during fasting in a 46-year-old female patient]. ⁶¹	Ravens S...Scheit L	32734334	2020
50	Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group. ⁶¹	Ozon ZA...Alikasifoglu M	32738013	2020

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Genes for Hyperinsulinemic Hypoglycemia

Genes related to Hyperinsulinemic Hypoglycemia (2 elite genes):

(show all 37)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	571.56	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	7847376
2	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	475.44	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21378087 21978130 9769320
3	HADH	Hydroxyacyl-CoA Dehydrogenase	Protein Coding	45.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	GCK	Glucokinase	Protein Coding	44.8	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
5	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	35.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	INSR	Insulin Receptor	Protein Coding	32.44	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	INS	Insulin	Protein Coding	16.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SST	Somatostatin	Protein Coding	15.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	GCG	Glucagon	Protein Coding	14.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	14.68	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
11	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	14.23	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	MEN1	Menin 1	Protein Coding	13.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	H2AC18	H2A Clustered Histone 18	Protein Coding	13.44	DISEASES inferred ¹⁵ ¹⁵
14	GCKR	Glucokinase Regulator	Protein Coding	13.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	IGF2	Insulin Like Growth Factor 2	Protein Coding	13.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	12.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	MAFA	MAF BZIP Transcription Factor A	Protein Coding	12.24	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
18	FOXA2	Forkhead Box A2	Protein Coding	12.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	PMM2	Phosphomannomutase 2	Protein Coding	12.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	ALG3	ALG3 Alpha-1,3- Mannosyltransferase	Protein Coding	11.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	HNF1A	HNF1 Homeobox A	Protein Coding	11.96	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	11.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	TRMT10A	TRNA Methyltransferase 10A	Protein Coding	11.94	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
24	ENO2	Enolase 2	Protein Coding	11.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	11.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	10.57	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	SEL1L	SEL1L Adaptor Subunit Of ERAD E3 Ubiquitin Ligase	Protein Coding	10.37	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	LOC110121471	VISTA Enhancer Hs1977	Biological Region	7.88	GeneCards inferred via : Variants (show sections)
29	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	7.86	GeneCards inferred via : Publications (show sections)
30	YARS1	Tyrosyl-TRNA Synthetase 1	Protein Coding	7.08	GeneCards inferred via : Variants (show sections)
31	H4C15	H4 Clustered Histone 15	Protein Coding	7.07	DISEASES inferred ¹⁵
32	H4C9	H4 Clustered Histone 9	Protein Coding	7.07	DISEASES inferred ¹⁵
33	H4-16	H4 Histone 16	Protein Coding	7.07	DISEASES inferred ¹⁵
34	H4C1	H4 Clustered Histone 1	Protein Coding	7.07	DISEASES inferred ¹⁵
35	H4C11	H4 Clustered Histone 11	Protein Coding	7.07	DISEASES inferred ¹⁵
36	H4C12	H4 Clustered Histone 12	Protein Coding	7.07	DISEASES inferred ¹⁵
37	H4C13	H4 Clustered Histone 13	Protein Coding	7.07	DISEASES inferred ¹⁵

Sources

Variations for Hyperinsulinemic Hypoglycemia

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

⁶ (show top 50) (show all 451)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNJ11	NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met)	SNV	Pathogenic	211230	rs780957825	11:17408758-17408758	11:17387211-17387211
2	KCNJ11	NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro)	SNV	Pathogenic	8665	rs28936678	11:17409199-17409199	11:17387652-17387652
3	KCNJ11	NM_001166290.2(KCNJ11):c.-16-210C>A	SNV	Pathogenic	8673	rs104894236	11:17409603-17409603	11:17388056-17388056
4	KCNJ11	NM_000525.3(KCNJ11):c.-134G>T	SNV	Pathogenic	8674	rs387906398	11:17409772-17409772	11:17388225-17388225
5	KCNJ11	NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu)	SNV	Pathogenic	8675	rs104894237	11:17408878-17408878	11:17387331-17387331
6	KCNJ11	NM_000525.3(KCNJ11):c.776A>G (p.His259Arg)	SNV	Pathogenic	8677	rs104894248	11:17408863-17408863	11:17387316-17387316
7	KCNJ11	NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg)	SNV	Pathogenic	8684	rs1404429785	11:17409173-17409173	11:17387626-17387626
8	KCNJ11	NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)	SNV	Pathogenic	8686	rs267607196	11:17408795-17408795	11:17387248-17387248
9	ABCC8	NM_000352.4:c.(?_1818)_(1923_?)del	Deletion	Pathogenic	39470
10	KCNJ11	NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys)	SNV	Pathogenic	435558	rs766891274	11:17409233-17409233	11:17387686-17387686
11	KCNJ11	NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)	Microsatellite	Pathogenic	988945		11:17408745-17408747	11:17387198-17387200
12	ABCC8	NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)	SNV	Pathogenic	9086	rs387906407	11:17417157-17417157	11:17395610-17395610
13	ABCC8	NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)	SNV	Pathogenic	18449	rs72559723	11:17448671-17448671	11:17427124-17427124
14	ABCC8	NM_000352.6(ABCC8):c.3989-9G>A	SNV	Pathogenic	9088	rs151344623	11:17418602-17418602	11:17397055-17397055
15	ABCC8	NM_000352.5(ABCC8):c.2292-1G>A	SNV	Pathogenic	9090	rs1564905676	11:17436158-17436158	11:17414611-17414611
16	ABCC8	NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	SNV	Pathogenic	9094	rs28936370	11:17418527-17418527	11:17396980-17396980
17	ABCC8	NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	SNV	Pathogenic	9097	rs137852671	11:17415842-17415842	11:17394295-17394295
18	ABCC8	NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)	SNV	Pathogenic	9099	rs137852672	11:17485004-17485004	11:17463457-17463457
19	ABCC8	NM_000352.6(ABCC8):c.4154_4156CCT[1] (p.Ser1386del)	Microsatellite	Pathogenic	9100	rs387906408	11:17417438-17417440	11:17395891-17395893
20	ABCC8	NM_000352.4(ABCC8):c.-190C>G	SNV	Pathogenic	9101	rs1395224084	11:17498513-17498513	11:17476966-17476966
21	ABCC8	NM_000352.6(ABCC8):c.512dup (p.Thr172fs)	Duplication	Pathogenic	39471	rs1564980510	11:17485051-17485052	11:17463504-17463505
22	ABCC8	NM_000352.6(ABCC8):c.1333-1013A>G	SNV	Pathogenic	39472		11:17465872-17465872	11:17444325-17444325
23	ABCC8	NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)	Deletion	Pathogenic	157696	rs587783169	11:17426107-17426107	11:17404560-17404560
24	ABCC8	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	Deletion	Pathogenic	196880	rs151344624	11:17417435-17417437	11:17395888-17395890
25	ABCC8	NM_000352.5(ABCC8):c.4119+1G>A	SNV	Pathogenic	210078	rs797045211	11:17418462-17418462	11:17396915-17396915
26	ABCC8	NM_000352.5(ABCC8):c.2117-1G>A	SNV	Pathogenic	210072	rs797045207	11:17448702-17448702	11:17427155-17427155
27	ABCC8	NM_000352.6(ABCC8):c.1879del (p.His627fs)	Deletion	Pathogenic	370909	rs764613146	11:17450156-17450156	11:17428609-17428609
28	ABCC8	NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)	SNV	Pathogenic	370163	rs1057516281	11:17419891-17419891	11:17398344-17398344
29	ABCC8	NM_001287174.2(ABCC8):c.1630+1G>T	SNV	Pathogenic	370604	rs773306994	11:17464266-17464266	11:17442719-17442719
30	ABCC8	NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)	Duplication	Pathogenic	371346	rs1057517199	11:17483367-17483368	11:17461820-17461821
31	ABCC8	NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)	SNV	Pathogenic	434053	rs769518471	11:17428605-17428605	11:17407058-17407058
32	ABCC8	NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)	Indel	Pathogenic	434054	rs1554917411	11:17436142-17436154	11:17414595-17414607
33	ABCC8	NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	SNV	Pathogenic	434056	rs139328569	11:17452386-17452386	11:17430839-17430839
34	ABCC8	NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)	SNV	Pathogenic	434044	rs1554904102	11:17415908-17415908	11:17394361-17394361
35	ABCC8	NM_000352.6(ABCC8):c.1752del (p.His584fs)	Deletion	Pathogenic	434060	rs1554926539	11:17452426-17452426	11:17430879-17430879
36	ABCC8	NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)	Duplication	Pathogenic	434055	rs768951263	11:17470110-17470111	11:17448563-17448564
37	ABCC8	NM_001287174.2(ABCC8):c.3871-1G>A	SNV	Pathogenic	552652	rs766431403	11:17418861-17418861	11:17397314-17397314
38	ABCC8	NM_000352.6(ABCC8):c.1634del (p.Phe545fs)	Deletion	Pathogenic	446765	rs1260178539	11:17453788-17453788	11:17432241-17432241
39	ABCC8	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	SNV	Pathogenic	188915	rs72559722	11:17434263-17434263	11:17412716-17412716
40	ABCC8	NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	SNV	Pathogenic	495834	rs72559734	11:17496502-17496502	11:17474955-17474955
41	ABCC8	NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	SNV	Pathogenic	217846	rs863225280	11:17483269-17483269	11:17461722-17461722
42	ABCC8	NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	SNV	Pathogenic	633027	rs1564977373	11:17483257-17483257	11:17461710-17461710
43	ABCC8	NM_000352.6(ABCC8):c.598del (p.Thr200fs)	Deletion	Pathogenic	802661	rs1591890137	11:17483354-17483354	11:17461807-17461807
44	ABCC8	NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	SNV	Pathogenic	585343	rs755259997	11:17428490-17428490	11:17406943-17406943
45	ABCC8	NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	SNV	Pathogenic	585351	rs72559730	11:17483210-17483210	11:17461663-17461663
46	ABCC8	NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)	SNV	Pathogenic	977924		11:17432200-17432200	11:17410653-17410653
47	ABCC8	NM_000352.6(ABCC8):c.2833_2834GA[1] (p.Arg946fs)	Microsatellite	Pathogenic/Likely pathogenic	556981	rs1554913069	11:17428983-17428986	11:17407436-17407439
48	ABCC8	NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	Deletion	Pathogenic/Likely pathogenic	280115	rs886041392	11:17428448-17428467	11:17406901-17406920
49	ABCC8	NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	SNV	Pathogenic/Likely pathogenic	434045	rs72559715	11:17415926-17415926	11:17394379-17394379
50	ABCC8	NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	SNV	Pathogenic/Likely pathogenic	210074	rs761749884	11:17491729-17491729	11:17470182-17470182

Sources

Expression for Hyperinsulinemic Hypoglycemia

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia.

Sources

Pathways for Hyperinsulinemic Hypoglycemia

Pathways related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.68	PDX1 MEN1 KCNJ11 INS GCK GCG
2	Glucose / Energy Metabolism ⁴	12.3	PDX1 MAFA INSR INS HNF4A GLUD1
3	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	12.12	KCNJ11 INS GCG ABCC8
4	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.89	PDX1 INSR INS HNF4A GCK FOXA2
5	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.73	PDX1 MAFA INS HNF4A GCK FOXA2
6	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.54	PDX1 MAFA KCNJ11 INSR INS HNF4A
7	Cardiac Progenitor Differentiation ¹	11.33	INS IGF2 FOXA2
8	FOXA1 transcription factor network ¹ Show member pathways FOXA transcription factor networks ¹	11.24	INS GCG FOXA2
9	FOXA2 and FOXA3 transcription factor networks ¹	10.87	PDX1 KCNJ11 INS HNF4A HADH GCK

Sources

GO Terms for Hyperinsulinemic Hypoglycemia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	inward rectifying potassium channel	GO:0008282	8.62	KCNJ11 ABCC8

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	10.13	PDX1 MAFA INSR INS IGF2 HNF4A
2	response to drug	GO:0042493	9.85	SST PDX1 KCNJ11 HADH ABCC8
3	insulin receptor signaling pathway	GO:0008286	9.74	INSR INS IGF2
4	response to glucose	GO:0009749	9.72	PDX1 MAFA HNF4A
5	carbohydrate metabolic process	GO:0005975	9.72	INSR INS IGF2 GCKR GCK
6	positive regulation of insulin secretion	GO:0032024	9.65	PDX1 GLUD1 GCK
7	glucose metabolic process	GO:0006006	9.65	PDX1 KCNJ11 INS IGF2 GCK
8	inorganic cation transmembrane transport	GO:0098662	9.58	KCNJ11 ABCC8
9	negative regulation of insulin secretion	GO:0046676	9.58	KCNJ11 HADH ABCC8
10	neuron projection maintenance	GO:1990535	9.56	INSR INS
11	type B pancreatic cell differentiation	GO:0003309	9.54	PDX1 MEN1
12	positive regulation of mitotic nuclear division	GO:0045840	9.54	INSR INS IGF2
13	positive regulation of respiratory burst	GO:0060267	9.52	INSR INS
14	negative regulation of glucokinase activity	GO:0033132	9.51	GCKR FOXA2
15	regulation of insulin secretion	GO:0050796	9.5	SLC16A1 KCNJ11 HNF4A HADH GCK GCG
16	exocrine pancreas development	GO:0031017	9.49	PDX1 IGF2
17	positive regulation of glycogen biosynthetic process	GO:0045725	9.46	INSR INS IGF2 GCK
18	detection of glucose	GO:0051594	9.43	PDX1 GCK
19	glucose homeostasis	GO:0042593	9.23	SLC16A1 PDX1 INSR INS HNF4A GCKR

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

#	Name	GO ID	Score	Top Affiliating Genes
1	NAD+ binding	GO:0070403	9.32	HADH GLUD1
2	cation-transporting ATPase activity	GO:0019829	9.26	KCNJ11 ABCC8
3	hormone activity	GO:0005179	9.26	SST INS IGF2 GCG
4	ATP-activated inward rectifier potassium channel activity	GO:0015272	9.16	KCNJ11 ABCC8
5	insulin-like growth factor receptor binding	GO:0005159	8.8	INSR INS IGF2

Sources

Sources for Hyperinsulinemic Hypoglycemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia