HHF7
MCID: HYP349
MIFTS: 40

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 71
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 52 58 73 29 6 39
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
Exercise-Induced Hyperinsulinism 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
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 pancreas, and related phenotypes are hyperinsulinemic hypoglycemia and hypoglycemic seizures

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 28.7 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
2 hypoglycemia 28.7 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinism 28.1 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4 monocarboxylate transporter 1 deficiency 10.3 SLC16A1 GLUD1
5 fanconi-bickel syndrome 10.2 LDHA ABCC8
6 fetal erythroblastosis 10.2 HADH GLUD1
7 intestinal atresia 10.1 RFX6 GCK
8 pancreatic cystadenoma 10.0 GCK ABCC8
9 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HADH GLUD1 GCK
10 maturity-onset diabetes of the young, type 11 9.8 KCNJ11 ABCC8
11 insulinoma 9.8 UCP2 GCK ABCC8
12 donohue syndrome 9.8 KCNJ11 GCK
13 cantu syndrome 9.8 KCNJ11 ABCC8
14 cardiomyopathy, dilated, 1o 9.8 KCNJ11 ABCC8
15 munchausen by proxy 9.7 KCNJ11 GCK ABCC8
16 diabetes mellitus, ketosis-prone 9.7 KCNJ11 ABCC8
17 maturity-onset diabetes of the young, type 1 9.7 KCNJ11 GCK ABCC8
18 maturity-onset diabetes of the young, type 13 9.7 KCNJ11 GCK ABCC8
19 maturity-onset diabetes of the young, type 10 9.7 KCNJ11 GCK ABCC8
20 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.7 KCNJ11 GCK ABCC8
21 maturity-onset diabetes of the young, type 7 9.7 KCNJ11 GCK ABCC8
22 maturity-onset diabetes of the young, type 9 9.7 KCNJ11 GCK ABCC8
23 maturity-onset diabetes of the young, type 6 9.7 KCNJ11 GCK ABCC8
24 maturity-onset diabetes of the young, type 4 9.7 KCNJ11 GCK ABCC8
25 maturity-onset diabetes of the young, type 2 9.6 KCNJ11 GCK ABCC8
26 renal cysts and diabetes syndrome 9.6 KCNJ11 GCK ABCC8
27 maturity-onset diabetes of the young, type 3 9.6 KCNJ11 GCK ABCC8
28 monogenic diabetes 9.6 KCNJ11 GCK ABCC8
29 rare diabetes mellitus type 2 9.6 KCNJ11 GCK ABCC8
30 gestational diabetes 9.6 KCNJ11 GCK ABCC8
31 hyperinsulinemic hypoglycemia, familial, 6 9.6 SLC16A1 HADH GLUD1 GCK ABCC8
32 glucose metabolism disease 9.5 KCNJ11 GCK ABCC8
33 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.5 RFX6 KCNJ11 ABCC8
34 hyperinsulinemic hypoglycemia, familial, 2 9.5 KCNJ11 ABCC8
35 acute insulin response 9.5 UCP2 KCNJ11 ABCC8
36 hyperglycemia 9.5 KCNJ11 GCK ABCC8
37 carbohydrate metabolic disorder 9.4 KCNJ11 GLUD1 GCK ABCC8
38 asphyxia neonatorum 9.4 SLC16A1 KCNJ11 HADH ABCC8
39 beckwith-wiedemann syndrome 9.4 SLC16A1 KCNJ11 ABCC8
40 pancreatic agenesis 9.4 RFX6 KCNJ11 GCK ABCC8
41 transient neonatal diabetes mellitus 9.3 RFX6 KCNJ11 GCK ABCC8
42 neonatal diabetes mellitus 9.3 RFX6 KCNJ11 GCK ABCC8
43 maturity-onset diabetes of the young 9.3 RFX6 KCNJ11 GCK ABCC8
44 diabetes mellitus, permanent neonatal 9.3 RFX6 KCNJ11 GCK ABCC8
45 endocrine pancreas disease 9.3 UCP2 KCNJ11 GCK ABCC8
46 glucose intolerance 9.2 UCP2 KCNJ11 GCK ABCC8
47 body mass index quantitative trait locus 11 9.0 UCP2 MIR151A KCNJ11 GCK ABCC8
48 diabetes mellitus, noninsulin-dependent 8.5 UCP2 MIR151A 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 hyperinsulinemic hypoglycemia 31 HP:0000825
2 hypoglycemic seizures 31 HP:0002173
3 pancreatic islet-cell hyperplasia 31 HP:0004510
4 hypoglycemic coma 31 HP:0001325

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 endocrine/exocrine gland MP:0005379 9.7 ABCC8 GCK GLUD1 HADH KCNJ11 RFX6
2 growth/size/body region MP:0005378 9.61 ACOT7 GCK GLUD1 HADH KCNJ11 LDHA
3 homeostasis/metabolism MP:0005376 9.36 ABCC8 ACOT7 GCK GLUD1 HADH KCNJ11

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 7

Search Clinical Trials , NIH Clinical Center for 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 Hyperinsulinemic Hypoglycemia 29 SLC16A1

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

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

40
Pancreatic Islet, Pancreas

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. 56 6
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A1 NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter)SNV Pathogenic 160370 rs606231310 1:113460046-113460046 1:112917424-112917424
2 SLC16A1 NM_003051.3(SLC16A1):c.-202G>ASNV Pathogenic 8916 rs387906403 1:113498814-113498814 1:112956192-112956192
3 SLC16A1 NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGGinsertion Pathogenic 8917 rs606231172 1:113499002-113499003 1:112956380-112956381
4 SLC16A1 NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser)SNV Uncertain significance 291861 rs77373295 1:113460049-113460049 1:112917427-112917427
5 SLC16A1 NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)SNV Likely benign 801532 1:113460624-113460624 1:112918002-112918002

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 UCP2 SLC16A1 LDHA KCNJ11 HADH GLUD1
2
Show member pathways
11.31 KCNJ11 GCK ABCC8
3 11.09 LDHA HADH GLUD1
4 10.89 SLC16A1 LDHA
5 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 9.5 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 9.61 POFUT2 LDHA GCK
2 positive regulation of insulin secretion GO:0032024 9.46 GLUD1 GCK
3 response to drug GO:0042493 9.46 LDHA KCNJ11 HADH ABCC8
4 glucose homeostasis GO:0042593 9.43 SLC16A1 RFX6 GCK
5 glycolytic process GO:0006096 9.4 LDHA GCK
6 pyruvate metabolic process GO:0006090 9.37 SLC16A1 LDHA
7 cellular glucose homeostasis GO:0001678 9.32 GCK ABCC8
8 negative regulation of insulin secretion GO:0046676 9.13 KCNJ11 HADH ABCC8
9 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 NAD+ binding GO:0070403 8.62 HADH GLUD1

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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