HHF7
MCID: HYP349
MIFTS: 42

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 56 13 43 71
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 52 58 73 39
Exercise-Induced Hyperinsulinism 12 58 29 6
Hhf7 56 12 52 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 56
Exercise Induced Hyperinsulinemic Hypoglycemia 52
Hyperinsulinemic Hypoglycemia Exercise-Induced 52
Hyperinsulinemic Hypoglycemia Familial 7 52

Characteristics:

Orphanet epidemiological data:

58
exercise-induced hyperinsulinism
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

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


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070214
OMIM 56 610021
OMIM Phenotypic Series 56 PS256450
MeSH 43 C538376
ICD10 via Orphanet 33 E16.1
UMLS via Orphanet 72 C1864902
Orphanet 58 ORPHA165991
MedGen 41 C1864902
SNOMED-CT via HPO 68 263681008 267384006
UMLS 71 C1864902

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

NIH Rare Diseases : 52 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 Type II diabetes mellitus. 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 45)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia 29.2 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
2 hypoglycemia 29.2 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinism 28.6 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4 monocarboxylate transporter 1 deficiency 10.2 SLC16A1 GLUD1
5 fetal erythroblastosis 10.2 HADH GLUD1
6 fructose-1,6-bisphosphatase deficiency 10.2 GCK ABCC8
7 fanconi-bickel syndrome 10.2 LDHA ABCC8
8 maturity-onset diabetes of the young, type 11 10.1 KCNJ11 ABCC8
9 neu-laxova syndrome 2 10.1 GLUD1 ABCC8
10 maturity-onset diabetes of the young, type 10 10.1 KCNJ11 ABCC8
11 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 HADH GLUD1 GCK
12 cardiomyopathy, dilated, 1o 10.0 KCNJ11 ABCC8
13 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 ABCC8
14 cantu syndrome 10.0 KCNJ11 ABCC8
15 hyperinsulinemic hypoglycemia, familial, 1 10.0 KCNJ11 ABCC8
16 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
17 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.9 KCNJ11 GCK ABCC8
18 maturity-onset diabetes of the young, type 1 9.9 KCNJ11 GCK ABCC8
19 maturity-onset diabetes of the young, type 13 9.9 KCNJ11 GCK ABCC8
20 maturity-onset diabetes of the young, type 7 9.9 KCNJ11 GCK ABCC8
21 maturity-onset diabetes of the young, type 9 9.9 KCNJ11 GCK ABCC8
22 maturity-onset diabetes of the young, type 6 9.9 KCNJ11 GCK ABCC8
23 maturity-onset diabetes of the young, type 4 9.9 KCNJ11 GCK ABCC8
24 maturity-onset diabetes of the young, type 2 9.9 KCNJ11 GCK ABCC8
25 renal cysts and diabetes syndrome 9.9 KCNJ11 GCK ABCC8
26 maturity-onset diabetes of the young, type 3 9.9 KCNJ11 GCK ABCC8
27 pancreatic cystadenoma 9.9 GCK ABCC8
28 monogenic diabetes 9.9 KCNJ11 GCK ABCC8
29 rare diabetes mellitus type 2 9.9 KCNJ11 GCK ABCC8
30 diabetes mellitus, ketosis-prone 9.9 KCNJ11 ABCC8
31 diabetes mellitus, permanent neonatal 1 9.9 KCNJ11 GCK ABCC8
32 intestinal atresia 9.9 RFX6 GCK
33 gestational diabetes 9.9 KCNJ11 GCK ABCC8
34 insulinoma 9.8 UCP2 GCK ABCC8
35 acute insulin response 9.8 UCP2 KCNJ11 ABCC8
36 asphyxia neonatorum 9.7 SLC16A1 KCNJ11 HADH ABCC8
37 hyperglycemia 9.6 KCNJ11 GCK ABCC8
38 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 ABCC8
39 glucose intolerance 9.5 UCP2 KCNJ11 GCK ABCC8
40 diabetes mellitus, permanent neonatal 4 9.5 RFX6 KCNJ11 GCK ABCC8
41 pancreatic agenesis 9.5 RFX6 KCNJ11 GCK ABCC8
42 transient neonatal diabetes mellitus 9.5 RFX6 KCNJ11 GCK ABCC8
43 neonatal diabetes mellitus 9.5 RFX6 KCNJ11 GCK ABCC8
44 hyperinsulinemic hypoglycemia, familial, 6 9.2 UCP2 SLC16A1 HADH GLUD1 GCK ABCC8
45 maturity-onset diabetes of the young 9.1 UCP2 RFX6 KCNJ11 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 coma 31 HP:0001325
4 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
exercise-induced hyperinsulinism
pyruvate-induced insulin secretion

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

Endocrine Features:
hyperinsulinemic hypoglycemia

Abdomen Pancreas:
islet cell hyperplasia, diffuse

Clinical features from OMIM:

610021

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 ACOT7 GCK GLUD1 HADH KCNJ11 LDHA
2 endocrine/exocrine gland MP:0005379 9.8 ABCC8 GCK GLUD1 HADH KCNJ11 RFX6
3 homeostasis/metabolism MP:0005376 9.7 ABCC8 ACOT7 GCK GLUD1 HADH KCNJ11
4 liver/biliary system MP:0005370 9.02 ACOT7 GCK 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. 56 6
17701893 2007
2
Exercise induced hypoglycaemic hyperinsulinism. 6 56
11207177 2001
3
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. 61 56
12502513 2003
4
Why expression of some genes is disallowed in beta-cells. 56
18481946 2008
5
Familial Hyperinsulinism 6
20301549 2003
6
Familial hyperinsulinism presenting in adults. 56
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>ASNV Pathogenic 8916 rs387906403 1:113498814-113498814 1:112956192-112956192
2 SLC16A1 NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGGinsertion 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 1:113464645-113464645 1:112922023-112922023
5 SLC16A1 NM_003051.3(SLC16A1):c.441C>T (p.Asn147=)SNV Conflicting interpretations of pathogenicity 258903 rs150246870 1:113460587-113460587 1:112917965-112917965
6 SLC16A1 NM_003051.3(SLC16A1):c.1430T>C (p.Val477Ala)SNV Uncertain significance 291852 rs886045067 1:113456586-113456586 1:112913964-112913964
7 SLC16A1 NM_003051.3(SLC16A1):c.1345G>A (p.Ala449Thr)SNV Uncertain significance 291853 rs756006376 1:113456671-113456671 1:112914049-112914049
8 SLC16A1 NM_003051.3(SLC16A1):c.983G>T (p.Arg328Leu)SNV Uncertain significance 291860 rs774823539 1:113460045-113460045 1:112917423-112917423
9 SLC16A1 NM_003051.3(SLC16A1):c.527G>A (p.Gly176Glu)SNV Uncertain significance 291865 rs766830652 1:113460501-113460501 1:112917879-112917879
10 SLC16A1 NM_003051.3(SLC16A1):c.72T>A (p.Ile24=)SNV Uncertain significance 291889 rs760137043 1:113471859-113471859 1:112929237-112929237
11 SLC16A1 NM_003051.3(SLC16A1):c.-87C>TSNV Uncertain significance 291911 rs886045087 1:113498699-113498699 1:112956077-112956077
12 SLC16A1 NM_003051.3(SLC16A1):c.-360G>ASNV Uncertain significance 291925 rs758825428 1:113498972-113498972 1:112956350-112956350
13 SLC16A1 NM_003051.3(SLC16A1):c.-201T>ASNV Uncertain significance 436732 rs753315328 1:113498813-113498813 1:112956191-112956191
14 SLC16A1 NM_003051.3(SLC16A1):c.*815G>ASNV Uncertain significance 291842 rs556305447 1:113455698-113455698 1:112913076-112913076
15 SLC16A1 NM_003051.3(SLC16A1):c.*739T>GSNV Uncertain significance 291843 rs570060559 1:113455774-113455774 1:112913152-112913152
16 SLC16A1 NM_003051.3(SLC16A1):c.*603T>CSNV Uncertain significance 291845 rs527658261 1:113455910-113455910 1:112913288-112913288
17 SLC16A1 NM_003051.4(SLC16A1):c.*1654A>GSNV Uncertain significance 875888 1:113454859-113454859 1:112912237-112912237
18 SLC16A1 NM_003051.4(SLC16A1):c.*1134G>ASNV Uncertain significance 876883 1:113455379-113455379 1:112912757-112912757
19 SLC16A1 NM_003051.4(SLC16A1):c.*1071T>CSNV Uncertain significance 876884 1:113455442-113455442 1:112912820-112912820
20 SLC16A1 NM_003051.4(SLC16A1):c.*1044T>GSNV Uncertain significance 876885 1:113455469-113455469 1:112912847-112912847
21 SLC16A1 NM_003051.4(SLC16A1):c.*946G>ASNV Uncertain significance 874081 1:113455567-113455567 1:112912945-112912945
22 SLC16A1 NM_003051.4(SLC16A1):c.*739T>CSNV Uncertain significance 874082 1:113455774-113455774 1:112913152-112913152
23 SLC16A1 NM_003051.4(SLC16A1):c.*657C>ASNV Uncertain significance 874083 1:113455856-113455856 1:112913234-112913234
24 SLC16A1 NM_003051.4(SLC16A1):c.*361G>TSNV Uncertain significance 875013 1:113456152-113456152 1:112913530-112913530
25 SLC16A1 NM_003051.4(SLC16A1):c.*137A>TSNV Uncertain significance 875015 1:113456376-113456376 1:112913754-112913754
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.1281C>T (p.Gly427=)SNV Uncertain significance 876928 1:113456735-113456735 1:112914113-112914113
28 SLC16A1 NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)SNV Uncertain significance 874138 1:113460348-113460348 1:112917726-112917726
29 SLC16A1 NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)SNV Uncertain significance 874139 1:113460488-113460488 1:112917866-112917866
30 SLC16A1 NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)SNV Uncertain significance 875999 1:113464678-113464678 1:112922056-112922056
31 SLC16A1 NC_000001.11:g.112956204G>CSNV Uncertain significance 874247 1:113498826-113498826 1:112956204-112956204
32 SLC16A1 NC_000001.11:g.112956208C>TSNV Uncertain significance 874248 1:113498830-113498830 1:112956208-112956208
33 SLC16A1 NC_000001.11:g.112956306C>TSNV Uncertain significance 875169 1:113498928-113498928 1:112956306-112956306
34 SLC16A1 NC_000001.11:g.112956314A>CSNV Uncertain significance 875170 1:113498936-113498936 1:112956314-112956314
35 SLC16A1 NM_003051.3(SLC16A1):c.*1801A>GSNV Uncertain significance 291829 rs750135904 1:113454712-113454712 1:112912090-112912090
36 SLC16A1 NM_003051.3(SLC16A1):c.*104C>TSNV Uncertain significance 291849 rs182505461 1:113456409-113456409 1:112913787-112913787
37 SLC16A1 NM_003051.3(SLC16A1):c.1117G>A (p.Val373Ile)SNV Uncertain significance 291859 rs200802632 1:113459911-113459911 1:112917289-112917289
38 SLC16A1 NM_003051.3(SLC16A1):c.-92G>TSNV Uncertain significance 291912 rs144301005 1:113498704-113498704 1:112956082-112956082
39 SLC16A1 NM_003051.3(SLC16A1):c.-313T>CSNV Uncertain significance 291921 rs886045090 1:113498925-113498925 1:112956303-112956303
40 SLC16A1 NM_003051.3(SLC16A1):c.*1064G>TSNV Uncertain significance 291837 rs886045063 1:113455449-113455449 1:112912827-112912827
41 SLC16A1 NM_003051.3(SLC16A1):c.*1051G>ASNV Uncertain significance 291838 rs886045064 1:113455462-113455462 1:112912840-112912840
42 SLC16A1 NM_003051.3(SLC16A1):c.*948G>ASNV Uncertain significance 291841 rs543171131 1:113455565-113455565 1:112912943-112912943
43 SLC16A1 NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=)SNV Uncertain significance 291854 rs773196238 1:113456674-113456674 1:112914052-112914052
44 SLC16A1 NM_003051.3(SLC16A1):c.-163T>CSNV Uncertain significance 291913 rs886045088 1:113498775-113498775 1:112956153-112956153
45 SLC16A1 NM_003051.3(SLC16A1):c.-248G>TSNV Uncertain significance 291917 rs762453730 1:113498860-113498860 1:112956238-112956238
46 SLC16A1 NM_003051.3(SLC16A1):c.-249C>TSNV Uncertain significance 291918 rs60953496 1:113498861-113498861 1:112956239-112956239
47 SLC16A1 NM_003051.3(SLC16A1):c.*1312G>CSNV Uncertain significance 291832 rs886045059 1:113455201-113455201 1:112912579-112912579
48 SLC16A1 NM_003051.3(SLC16A1):c.*1072G>TSNV Uncertain significance 291836 rs886045062 1:113455441-113455441 1:112912819-112912819
49 SLC16A1 NM_003051.3(SLC16A1):c.*1018T>GSNV Uncertain significance 291839 rs774371594 1:113455495-113455495 1:112912873-112912873
50 SLC16A1 NM_003051.3(SLC16A1):c.*629C>TSNV Uncertain significance 291844 rs540946001 1:113455884-113455884 1:112913262-112913262

Expression for Hyperinsulinemic Hypoglycemia, Familial, 7

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

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 7

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 9.5 UCP2 KCNJ11 HADH GLUD1 GCK ACOT7
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.63 POFUT2 LDHA GCK
2 response to drug GO:0042493 9.56 LDHA KCNJ11 HADH ABCC8
3 glucose homeostasis GO:0042593 9.5 SLC16A1 RFX6 GCK
4 positive regulation of insulin secretion GO:0032024 9.48 GLUD1 GCK
5 glycolytic process GO:0006096 9.43 LDHA GCK
6 cellular glucose homeostasis GO:0001678 9.4 GCK ABCC8
7 pyruvate metabolic process GO:0006090 9.37 SLC16A1 LDHA
8 inorganic cation transmembrane transport GO:0098662 9.16 KCNJ11 ABCC8
9 negative regulation of insulin secretion GO:0046676 9.13 KCNJ11 HADH ABCC8
10 regulation of insulin secretion GO:0050796 9.02 SLC16A1 RFX6 KCNJ11 GCK ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 9.16 KCNJ11 ABCC8
2 NAD+ binding GO:0070403 8.96 HADH GLUD1
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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