HHF7
MCID: HYP349
MIFTS: 43

Hyperinsulinemic Hypoglycemia, Familial, 7 (HHF7)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 7

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 7:

Name: Hyperinsulinemic Hypoglycemia, Familial, 7 57 13 44 71
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 20 58 73 39
Exercise-Induced Hyperinsulinism 12 58 29 6
Hhf7 57 12 20 73
Familial Hyperinsulinemic Hypoglycemia 7 12 73 15
Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency 12 58
Hyperinsulinism Due to Slc16a1 Deficiency 12 58
Eihi 12 58
Hyperinsulinemic Hypoglycemia, Exercise-Induced 57
Exercise Induced Hyperinsulinemic Hypoglycemia 20
Hyperinsulinemic Hypoglycemia Exercise-Induced 20
Hyperinsulinemic Hypoglycemia Familial 7 20

Characteristics:

Orphanet epidemiological data:

58
exercise-induced hyperinsulinism
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070214
OMIM® 57 610021
OMIM Phenotypic Series 57 PS256450
MeSH 44 C538376
ICD10 via Orphanet 33 E16.1
UMLS via Orphanet 72 C1864902
Orphanet 58 ORPHA165991
MedGen 41 C1864902
SNOMED-CT via HPO 68 263681008
UMLS 71 C1864902

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

GARD : 20 Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope), shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 7, also known as exercise-induced hyperinsulinemic hypoglycemia, is related to hyperinsulinemic hypoglycemia and hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 7 is SLC16A1 (Solute Carrier Family 16 Member 1), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include pancreatic islet, and related phenotypes are pancreatic islet-cell hyperplasia and hyperinsulinemic hypoglycemia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has material basis in mutation in the SLC16A1 gene on chromosome 1p13.2.

UniProtKB/Swiss-Prot : 73 Familial hyperinsulinemic hypoglycemia 7: Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.

More information from OMIM: 610021 PS256450

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 7

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, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia 29.4 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
2 hypoglycemia 29.4 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinism 28.9 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4 monocarboxylate transporter 1 deficiency 10.2 SLC16A1 GLUD1
5 fructose-1,6-bisphosphatase deficiency 10.2 GCK ABCC8
6 fetal erythroblastosis 10.2 HADH GLUD1
7 fanconi-bickel syndrome 10.2 LDHA ABCC8
8 neu-laxova syndrome 2 10.1 GLUD1 ABCC8
9 maturity-onset diabetes of the young, type 11 10.1 KCNJ11 ABCC8
10 cardiomyopathy, dilated, 1o 10.1 KCNJ11 ABCC8
11 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HADH GLUD1 GCK
12 intestinal atresia 10.0 RFX6 GCK
13 coronary artery vasospasm 10.0 KCNJ11 ABCC8
14 pancreatic cystadenoma 10.0 GCK ABCC8
15 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 ABCC8
16 cantu syndrome 10.0 KCNJ11 ABCC8
17 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
18 factitious disorder 10.0 KCNJ11 GCK ABCC8
19 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.0 KCNJ11 GCK ABCC8
20 maturity-onset diabetes of the young, type 1 10.0 KCNJ11 GCK ABCC8
21 maturity-onset diabetes of the young, type 13 10.0 KCNJ11 GCK ABCC8
22 maturity-onset diabetes of the young, type 7 10.0 KCNJ11 GCK ABCC8
23 maturity-onset diabetes of the young, type 9 9.9 KCNJ11 GCK ABCC8
24 maturity-onset diabetes of the young, type 6 9.9 KCNJ11 GCK ABCC8
25 maturity-onset diabetes of the young, type 10 9.9 KCNJ11 GCK ABCC8
26 maturity-onset diabetes of the young, type 4 9.9 KCNJ11 GCK ABCC8
27 maturity-onset diabetes of the young, type 2 9.9 KCNJ11 GCK ABCC8
28 maturity-onset diabetes of the young, type 3 9.9 KCNJ11 GCK ABCC8
29 renal cysts and diabetes syndrome 9.9 KCNJ11 GCK ABCC8
30 monogenic diabetes 9.9 KCNJ11 GCK ABCC8
31 diabetes mellitus, ketosis-prone 9.9 KCNJ11 ABCC8
32 diabetes mellitus, permanent neonatal, 1 9.9 KCNJ11 GCK ABCC8
33 gestational diabetes 9.9 KCNJ11 GCK ABCC8
34 glucose metabolism disease 9.9 KCNJ11 GCK ABCC8
35 insulinoma 9.9 UCP2 GCK ABCC8
36 hyperinsulinemic hypoglycemia, familial, 1 9.8 KCNJ11 ABCC8
37 hyperglycemia 9.8 KCNJ11 GCK ABCC8
38 acute insulin response 9.8 UCP2 KCNJ11 ABCC8
39 asphyxia neonatorum 9.8 SLC16A1 KCNJ11 HADH ABCC8
40 umbilical hernia 9.7 KCNJ11 ABCC8
41 pancreatic agenesis 9.7 RFX6 KCNJ11 GCK ABCC8
42 transient neonatal diabetes mellitus 9.7 RFX6 KCNJ11 GCK ABCC8
43 neonatal diabetes 9.7 RFX6 KCNJ11 GCK ABCC8
44 permanent neonatal diabetes mellitus 9.7 RFX6 KCNJ11 GCK ABCC8
45 glucose intolerance 9.6 UCP2 KCNJ11 GCK ABCC8
46 maturity-onset diabetes of the young 9.2 UCP2 SLC16A1 RFX6 KCNJ11 GCK ABCC8
47 hyperinsulinemic hypoglycemia, familial, 6 9.1 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
48 diabetes mellitus 8.9 UCP2 RFX6 KCNJ11 HK1 GCK ABCC8

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 7:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 7

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 7

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 7:

31
# Description HPO Frequency HPO Source Accession
1 pancreatic islet-cell hyperplasia 31 HP:0004510
2 hyperinsulinemic hypoglycemia 31 HP:0000825
3 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
exercise-induced hyperinsulinism
pyruvate-induced insulin secretion

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia

Endocrine Features:
hyperinsulinemic hypoglycemia

Abdomen Pancreas:
islet cell hyperplasia, diffuse

Clinical features from OMIM®:

610021 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ABCC8 ACOT7 GCK GLUD1 HADH HK1
2 endocrine/exocrine gland MP:0005379 9.8 ABCC8 GCK GLUD1 HADH KCNJ11 RFX6
3 homeostasis/metabolism MP:0005376 9.73 ABCC8 ACOT7 GCK GLUD1 HADH HK1
4 liver/biliary system MP:0005370 9.1 ACOT7 GCK HK1 LDHA SLC16A1 UCP2

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 7

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 7

Cochrane evidence based reviews: hyperinsulinemic hypoglycemia, familial, 7

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 7

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 7:

# Genetic test Affiliating Genes
1 Exercise-Induced Hyperinsulinism 29 SLC16A1

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 7:

40
Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 7

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 7:

# Title Authors PMID Year
1
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. 6 57
17701893 2007
2
Exercise induced hypoglycaemic hyperinsulinism. 6 57
11207177 2001
3
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. 57 61
12502513 2003
4
Why expression of some genes is disallowed in beta-cells. 57
18481946 2008
5
Familial hyperinsulinism presenting in adults. 57
1358043 1992

Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 7:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A1 NM_003051.3(SLC16A1):c.-202G>A SNV Pathogenic 8916 rs387906403 1:113498814-113498814 1:112956192-112956192
2 SLC16A1 NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG Insertion Pathogenic 8917 rs606231172 1:113499002-113499003 1:112956380-112956381
3 SLC16A1 NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter) SNV Pathogenic 160370 rs606231310 1:113460046-113460046 1:112917424-112917424
4 SLC16A1 NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) SNV Likely pathogenic 827804 rs1570623881 1:113464645-113464645 1:112922023-112922023
5 SLC16A1 NM_003051.4(SLC16A1):c.*946G>A SNV Uncertain significance 874081 1:113455567-113455567 1:112912945-112912945
6 SLC16A1 NM_003051.4(SLC16A1):c.*739T>C SNV Uncertain significance 874082 1:113455774-113455774 1:112913152-112913152
7 SLC16A1 NM_003051.4(SLC16A1):c.*657C>A SNV Uncertain significance 874083 1:113455856-113455856 1:112913234-112913234
8 SLC16A1 NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) SNV Uncertain significance 874138 1:113460348-113460348 1:112917726-112917726
9 SLC16A1 NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) SNV Uncertain significance 874139 1:113460488-113460488 1:112917866-112917866
10 SLC16A1 NM_003051.3(SLC16A1):c.-201T>A SNV Uncertain significance 436732 rs753315328 1:113498813-113498813 1:112956191-112956191
11 SLC16A1 NC_000001.11:g.112956204G>C SNV Uncertain significance 874247 1:113498826-113498826 1:112956204-112956204
12 SLC16A1 NC_000001.11:g.112956208C>T SNV Uncertain significance 874248 1:113498830-113498830 1:112956208-112956208
13 SLC16A1 NM_003051.4(SLC16A1):c.*361G>T SNV Uncertain significance 875013 1:113456152-113456152 1:112913530-112913530
14 SLC16A1 NM_003051.3(SLC16A1):c.1430T>C (p.Val477Ala) SNV Uncertain significance 291852 rs886045067 1:113456586-113456586 1:112913964-112913964
15 SLC16A1 NM_003051.3(SLC16A1):c.-163T>C SNV Uncertain significance 291913 rs886045088 1:113498775-113498775 1:112956153-112956153
16 SLC16A1 NM_003051.3(SLC16A1):c.*1072G>T SNV Uncertain significance 291836 rs886045062 1:113455441-113455441 1:112912819-112912819
17 SLC16A1 NM_003051.3(SLC16A1):c.*603T>C SNV Uncertain significance 291845 rs527658261 1:113455910-113455910 1:112913288-112913288
18 SLC16A1 NM_003051.3(SLC16A1):c.1228+6G>A SNV Uncertain significance 291858 rs190615745 1:113459794-113459794 1:112917172-112917172
19 SLC16A1 NM_003051.3(SLC16A1):c.1345G>A (p.Ala449Thr) SNV Uncertain significance 291853 rs756006376 1:113456671-113456671 1:112914049-112914049
20 SLC16A1 NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser) SNV Uncertain significance 291861 rs77373295 1:113460049-113460049 1:112917427-112917427
21 SLC16A1 NM_003051.4(SLC16A1):c.*137A>T SNV Uncertain significance 875015 1:113456376-113456376 1:112913754-112913754
22 SLC16A1 NM_003051.3(SLC16A1):c.441C>T (p.Asn147=) SNV Uncertain significance 258903 rs150246870 1:113460587-113460587 1:112917965-112917965
23 SLC16A1 NC_000001.11:g.112956306C>T SNV Uncertain significance 875169 1:113498928-113498928 1:112956306-112956306
24 SLC16A1 NC_000001.11:g.112956314A>C SNV Uncertain significance 875170 1:113498936-113498936 1:112956314-112956314
25 SLC16A1 NM_003051.4(SLC16A1):c.*1654A>G SNV Uncertain significance 875888 1:113454859-113454859 1:112912237-112912237
26 SLC16A1 NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) SNV Uncertain significance 875941 1:113456649-113456649 1:112914027-112914027
27 SLC16A1 NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) SNV Uncertain significance 875999 1:113464678-113464678 1:112922056-112922056
28 SLC16A1 NM_003051.4(SLC16A1):c.*1134G>A SNV Uncertain significance 876883 1:113455379-113455379 1:112912757-112912757
29 SLC16A1 NM_003051.4(SLC16A1):c.*1071T>C SNV Uncertain significance 876884 1:113455442-113455442 1:112912820-112912820
30 SLC16A1 NM_003051.4(SLC16A1):c.*1044T>G SNV Uncertain significance 876885 1:113455469-113455469 1:112912847-112912847
31 SLC16A1 NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) SNV Uncertain significance 876928 1:113456735-113456735 1:112914113-112914113
32 SLC16A1 NM_003051.3(SLC16A1):c.1117G>A (p.Val373Ile) SNV Uncertain significance 291859 rs200802632 1:113459911-113459911 1:112917289-112917289
33 SLC16A1 NM_003051.3(SLC16A1):c.*1064G>T SNV Uncertain significance 291837 rs886045063 1:113455449-113455449 1:112912827-112912827
34 SLC16A1 NM_003051.3(SLC16A1):c.-248G>T SNV Uncertain significance 291917 rs762453730 1:113498860-113498860 1:112956238-112956238
35 SLC16A1 NM_003051.3(SLC16A1):c.*516C>G SNV Uncertain significance 291846 rs754537571 1:113455997-113455997 1:112913375-112913375
36 SLC16A1 NM_003051.3(SLC16A1):c.*739T>G SNV Uncertain significance 291843 rs570060559 1:113455774-113455774 1:112913152-112913152
37 SLC16A1 NM_003051.3(SLC16A1):c.*104C>T SNV Uncertain significance 291849 rs182505461 1:113456409-113456409 1:112913787-112913787
38 SLC16A1 NM_003051.3(SLC16A1):c.489C>A (p.Pro163=) SNV Uncertain significance 291867 rs145916504 1:113460539-113460539 1:112917917-112917917
39 SLC16A1 NM_003051.3(SLC16A1):c.72T>A (p.Ile24=) SNV Uncertain significance 291889 rs760137043 1:113471859-113471859 1:112929237-112929237
40 SLC16A1 NM_003051.3(SLC16A1):c.*1801A>G SNV Uncertain significance 291829 rs750135904 1:113454712-113454712 1:112912090-112912090
41 SLC16A1 NM_003051.3(SLC16A1):c.*1312G>C SNV Uncertain significance 291832 rs886045059 1:113455201-113455201 1:112912579-112912579
42 SLC16A1 NM_003051.3(SLC16A1):c.-92G>T SNV Uncertain significance 291912 rs144301005 1:113498704-113498704 1:112956082-112956082
43 SLC16A1 NM_003051.3(SLC16A1):c.1452G>A (p.Pro484=) SNV Uncertain significance 291851 rs17852382 1:113456564-113456564 1:112913942-112913942
44 SLC16A1 NM_003051.3(SLC16A1):c.-226G>A SNV Uncertain significance 291915 rs886045089 1:113498838-113498838 1:112956216-112956216
45 SLC16A1 NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=) SNV Uncertain significance 291854 rs773196238 1:113456674-113456674 1:112914052-112914052
46 SLC16A1 NM_003051.3(SLC16A1):c.-249C>T SNV Uncertain significance 291918 rs60953496 1:113498861-113498861 1:112956239-112956239
47 SLC16A1 NM_003051.3(SLC16A1):c.-313T>C SNV Uncertain significance 291921 rs886045090 1:113498925-113498925 1:112956303-112956303
48 SLC16A1 NM_003051.3(SLC16A1):c.-349G>A SNV Uncertain significance 291924 rs750771668 1:113498961-113498961 1:112956339-112956339
49 SLC16A1 NM_003051.3(SLC16A1):c.*1051G>A SNV Uncertain significance 291838 rs886045064 1:113455462-113455462 1:112912840-112912840
50 SLC16A1 NM_003051.3(SLC16A1):c.*948G>A SNV Uncertain significance 291841 rs543171131 1:113455565-113455565 1:112912943-112912943

Expression for Hyperinsulinemic Hypoglycemia, Familial, 7

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 7.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 7

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 7 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 UCP2 SLC16A1 LDHA KCNJ11 HK1 HADH
2
Show member pathways
13.02 SLC16A1 KCNJ11 HK1 GCK ABCC8
3 12.2 UCP2 LDHA HK1 GLUD1
4
Show member pathways
11.98 HK1 GLUD1 GCK
5 11.57 LDHA HADH GLUD1
6 11.39 LDHA HK1 GCK
7 11.31 LDHA HK1 GCK
8
Show member pathways
11.24 KCNJ11 HK1 GCK ABCC8
9 10.9 SLC16A1 LDHA HK1
10 10.66 LDHA HK1
11 10.66 UCP2 KCNJ11 HADH GCK ABCC8

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 7

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.23 UCP2 KCNJ11 HK1 HADH GLUD1 GCK
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 7 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 LDHA KCNJ11 HADH ABCC8
2 carbohydrate metabolic process GO:0005975 9.67 POFUT2 LDHA HK1 GCK
3 glucose homeostasis GO:0042593 9.63 SLC16A1 RFX6 GCK
4 positive regulation of insulin secretion GO:0032024 9.55 GLUD1 GCK
5 substantia nigra development GO:0021762 9.54 LDHA GLUD1
6 canonical glycolysis GO:0061621 9.52 HK1 GCK
7 carbohydrate phosphorylation GO:0046835 9.51 HK1 GCK
8 pyruvate metabolic process GO:0006090 9.49 SLC16A1 LDHA
9 inorganic cation transmembrane transport GO:0098662 9.48 KCNJ11 ABCC8
10 glucose 6-phosphate metabolic process GO:0051156 9.43 HK1 GCK
11 glycolytic process GO:0006096 9.43 LDHA HK1 GCK
12 negative regulation of insulin secretion GO:0046676 9.33 KCNJ11 HADH ABCC8
13 hexose metabolic process GO:0019318 9.32 HK1 GCK
14 cellular glucose homeostasis GO:0001678 9.13 HK1 GCK ABCC8
15 regulation of insulin secretion GO:0050796 9.1 SLC16A1 RFX6 KCNJ11 HADH GCK ABCC8

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.46 HK1 GCK
2 NAD+ binding GO:0070403 9.43 HADH GLUD1
3 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
4 glucose binding GO:0005536 9.37 HK1 GCK
5 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ11 ABCC8
6 mannokinase activity GO:0019158 9.26 HK1 GCK
7 fructokinase activity GO:0008865 9.16 HK1 GCK
8 hexokinase activity GO:0004396 8.96 HK1 GCK
9 glucokinase activity GO:0004340 8.62 HK1 GCK

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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