HHF7
MCID: HYP349
MIFTS: 38

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 72
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 53 59 74 29 6 40
Hhf7 57 12 53 74
Familial Hyperinsulinemic Hypoglycemia 7 12 74 15
Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency 12 59
Hyperinsulinism Due to Slc16a1 Deficiency 12 59
Exercise-Induced Hyperinsulinism 12 59
Eihi 12 59
Hyperinsulinemic Hypoglycemia, Exercise-Induced 57
Exercise Induced Hyperinsulinemic Hypoglycemia 53
Hyperinsulinemic Hypoglycemia Exercise-Induced 53
Hyperinsulinemic Hypoglycemia Familial 7 53

Characteristics:

Orphanet epidemiological data:

59
exercise-induced hyperinsulinism
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

32
hyperinsulinemic hypoglycemia, familial, 7:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0070214
ICD10 via Orphanet 34 E16.1
UMLS via Orphanet 73 C1864902
Orphanet 59 ORPHA165991
MedGen 42 C1864902
UMLS 72 C1864902

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

NIH Rare Diseases : 53 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 hyperinsulinism and hyperinsulinemic 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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include pancreatic islet, 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 : 74 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 26)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism 29.6 INS GCK
2 hyperinsulinemic hypoglycemia 29.4 SLC16A1 INS GCK
3 hypoglycemia 28.6 SLC16A1 INS GCK ACADM
4 monocarboxylate transporter 1 deficiency 10.1 SLC16A1 INS
5 fanconi-bickel syndrome 10.0 LDHA INS
6 maturity-onset diabetes of the young 9.8 INS GCK
7 maturity-onset diabetes of the young, type 2 9.8 INS GCK
8 maturity-onset diabetes of the young, type 3 9.8 INS GCK
9 maturity-onset diabetes of the young, type 1 9.8 INS GCK
10 maturity-onset diabetes of the young, type 13 9.8 INS GCK
11 endocrine pancreas disease 9.8 INS GCK
12 pancreatic agenesis 9.7 INS GCK
13 monogenic diabetes 9.7 INS GCK
14 maturity-onset diabetes of the young, type 7 9.7 INS GCK
15 diabetes mellitus, permanent neonatal 9.7 INS GCK
16 glucose metabolism disease 9.7 INS GCK
17 autosomal genetic disease 9.7 INS GCK
18 neonatal diabetes mellitus 9.7 INS GCK
19 acquired metabolic disease 9.6 INS GCK
20 insulinoma 9.6 INS GCK
21 gestational diabetes 9.6 INS GCK
22 glucose intolerance 9.5 INS GCK
23 hyperglycemia 9.4 INS GCK
24 3-hydroxyacyl-coa dehydrogenase deficiency 9.3 INS GCK ACADM
25 maturity-onset diabetes of the young, type 6 9.2 LDHA INS GCK
26 diabetes mellitus, insulin-dependent 9.2 INS GCK

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:

32
# Description HPO Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 32 HP:0000825
2 hypoglycemic seizures 32 HP:0002173
3 pancreatic islet-cell hyperplasia 32 HP:0004510
4 hypoglycemic coma 32 HP:0001325

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.55 ACADM GCK INS LDHA SLC16A1
2 liver/biliary system MP:0005370 9.35 ACADM GCK INS LDHA SLC16A1
3 mortality/aging MP:0010768 9.02 ACADM GCK INS LDHA SLC16A1

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:

41
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. 8 71
17701893 2007
2
Exercise induced hypoglycaemic hyperinsulinism. 8 71
11207177 2001
3
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. 38 8
12502513 2003
4
Why expression of some genes is disallowed in beta-cells. 8
18481946 2008
5
Familial Hyperinsulinism 71
20301549 2003
6
Familial hyperinsulinism presenting in adults. 8
1358043 1992

Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A1 NM_003051.3(SLC16A1): c.-202G> A single nucleotide variant Pathogenic rs387906403 1:113498814-113498814 1:112956192-112956192
2 SLC16A1 NM_003051.3(SLC16A1): c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG insertion Pathogenic rs606231172 1:113499002-113499003 1:112956380-112956381

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SLC16A1 LDHA INS GCK ACADM
2 11.76 GCK ACADM
3
Show member pathways
11.65 SLC16A1 LDHA
4
Show member pathways
11.62 INS GCK
5 11.54 LDHA GCK
6 11.51 LDHA INS
7
Show member pathways
11.49 INS GCK
8
Show member pathways
11.44 INS GCK
9 11.36 LDHA ACADM
10 11.18 LDHA GCK
11 11.16 LDHA GCK
12 10.82 SLC16A1 LDHA
13 10.69 LDHA ACADM
14 10.44 INS GCK ACADM
15 10.16 LDHA INS

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 7

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 9.5 LDHA INS GCK
2 regulation of insulin secretion GO:0050796 9.43 SLC16A1 GCK
3 glucose metabolic process GO:0006006 9.4 INS GCK
4 glycolytic process GO:0006096 9.37 LDHA GCK
5 pyruvate metabolic process GO:0006090 9.26 SLC16A1 LDHA
6 positive regulation of glycogen biosynthetic process GO:0045725 9.16 INS GCK
7 negative regulation of gluconeogenesis GO:0045721 8.96 INS GCK
8 glucose homeostasis GO:0042593 8.8 SLC16A1 INS GCK

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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