HHF7
MCID: HYP349
MIFTS: 40

Hyperinsulinemic Hypoglycemia, Familial, 7 (HHF7)

Categories: Blood diseases, Endocrine 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 58 13 74
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 54 60 76 30 6 41
Hhf7 58 12 54 76
Familial Hyperinsulinemic Hypoglycemia 7 12 76 15
Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency 12 60
Hyperinsulinism Due to Slc16a1 Deficiency 12 60
Exercise-Induced Hyperinsulinism 12 60
Eihi 12 60
Hyperinsulinemic Hypoglycemia, Exercise-Induced 58
Exercise Induced Hyperinsulinemic Hypoglycemia 54
Hyperinsulinemic Hypoglycemia Exercise-Induced 54
Hyperinsulinemic Hypoglycemia Familial 7 54

Characteristics:

Orphanet epidemiological data:

60
exercise-induced hyperinsulinism
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

33
hyperinsulinemic hypoglycemia, familial, 7:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070214
OMIM 58 610021
ICD10 via Orphanet 35 E16.1
UMLS via Orphanet 75 C1864902
Orphanet 60 ORPHA165991
MedGen 43 C1864902
SNOMED-CT via HPO 70 263681008 267384006
UMLS 74 C1864902

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

NIH Rare Diseases : 54 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 hyperinsulinism. 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 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 : 76 Familial hyperinsulinemic hypoglycemia 7: Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.

Description from OMIM: 610021

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 hyperinsulinemic hypoglycemia 29.7 GCK INS SLC16A1
2 hyperinsulinism 29.6 GCK INS
3 hypoglycemia 29.2 ACADM GCK INS SLC16A1
4 monocarboxylate transporter 1 deficiency 10.1 INS SLC16A1
5 fanconi-bickel syndrome 10.0 INS LDHA
6 maturity-onset diabetes of the young 9.9 GCK INS
7 maturity-onset diabetes of the young, type 2 9.9 GCK INS
8 maturity-onset diabetes of the young, type 3 9.9 GCK INS
9 maturity-onset diabetes of the young, type 13 9.9 GCK INS
10 maturity-onset diabetes of the young, type 1 9.9 GCK INS
11 endocrine pancreas disease 9.8 GCK INS
12 pancreatic agenesis 9.8 GCK INS
13 monogenic diabetes 9.8 GCK INS
14 maturity-onset diabetes of the young, type 7 9.8 GCK INS
15 diabetes mellitus, permanent neonatal 9.8 GCK INS
16 glucose metabolism disease 9.8 GCK INS
17 autosomal genetic disease 9.8 GCK INS
18 neonatal diabetes mellitus 9.8 GCK INS
19 acquired metabolic disease 9.8 GCK INS
20 insulinoma 9.8 GCK INS
21 gestational diabetes 9.7 GCK INS
22 glucose intolerance 9.7 GCK INS
23 hyperglycemia 9.6 GCK INS
24 3-hydroxyacyl-coa dehydrogenase deficiency 9.6 ACADM GCK INS
25 maturity-onset diabetes of the young, type 6 9.5 GCK INS LDHA
26 diabetes mellitus, insulin-dependent 9.5 GCK INS

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:

33
# Description HPO Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 33 HP:0000825
2 hypoglycemic seizures 33 HP:0002173
3 pancreatic islet-cell hyperplasia 33 HP:0004510
4 hypoglycemic coma 33 HP:0001325

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 SLC16A1

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

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

42
Pancreatic Islet, Pancreas

Publications for Hyperinsulinemic Hypoglycemia, Familial, 7

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 7:

# Title Authors Year
1
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. ( 17701893 )
2007
2
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ( 12502513 )
2003
3
Exercise induced hypoglycaemic hyperinsulinism. ( 11207177 )
2001

Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

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

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

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 ACADM GCK INS LDHA SLC16A1
2 11.76 ACADM GCK
3
Show member pathways
11.65 LDHA SLC16A1
4
Show member pathways
11.62 GCK INS
5 11.52 GCK LDHA
6 11.49 INS LDHA
7
Show member pathways
11.48 GCK INS
8
Show member pathways
11.44 GCK INS
9 11.36 ACADM LDHA
10 11.18 GCK LDHA
11 11.13 GCK LDHA
12 10.82 LDHA SLC16A1
13 10.66 ACADM LDHA
14 10.44 ACADM GCK INS
15 10.16 INS LDHA

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

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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