HHF7
MCID: HYP349
MIFTS: 38

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 57 13 73
Exercise-Induced Hyperinsulinemic Hypoglycemia 12 53 59 75 29 6 40
Hhf7 57 12 53 75
Familial Hyperinsulinemic Hypoglycemia 7 12 75 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 heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610021
Disease Ontology 12 DOID:0070214
Orphanet 59 ORPHA165991
UMLS via Orphanet 74 C1864902
ICD10 via Orphanet 34 E16.1
MedGen 42 C1864902
SNOMED-CT via HPO 69 263681008 267384006
UMLS 73 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 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 : 75 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 29)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia 30.2 INS SLC16A1
2 hypoglycemia 29.9 GCG INS SLC16A1
3 fructose-1,6-bisphosphatase deficiency 10.0 ALDOB GCG
4 glycogen storage disease iii 10.0 ALDOB GCG
5 hyperinsulinism 10.0
6 monocarboxylate transporter 1 deficiency 9.9 INS SLC16A1
7 type 1 diabetes mellitus 15 9.9 GCG INS
8 maturity-onset diabetes of the young, type 9 9.9 GCG INS
9 maturity-onset diabetes of the young 9.9 GCG INS
10 hirata disease 9.9 GCG INS
11 acute insulin response 9.9 GCG INS
12 dumping syndrome 9.9 GCG INS
13 pancreatic cystadenoma 9.9 GCG INS
14 glycogen storage disease ia 9.9 ALDOB INS
15 prediabetes syndrome 9.9 GCG INS
16 gastrointestinal system benign neoplasm 9.9 GCG INS
17 carbohydrate metabolic disorder 9.9 ALDOB INS
18 fanconi-bickel syndrome 9.9 INS LDHA
19 pancreas disease 9.9 GCG INS
20 overnutrition 9.9 GCG INS
21 glucose metabolism disease 9.9 GCG INS
22 morbid obesity 9.9 GCG INS
23 maturity-onset diabetes of the young, type 6 9.9 INS LDHA
24 acquired metabolic disease 9.8 GCG INS
25 insulinoma 9.8 GCG INS
26 glucose intolerance 9.8 GCG INS
27 gastrointestinal system disease 9.8 GCG INS
28 hyperglycemia 9.8 GCG INS
29 maturity-onset diabetes of the young, type 1 9.7 GCG 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

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 ALDOB INS SLC16A1
2 liver/biliary system MP:0005370 8.92 ALDOB 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, Pancreas

Publications for Hyperinsulinemic Hypoglycemia, Familial, 7

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 7:

# Title Authors Year
1
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ( 12502513 )
2003

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 ALDOB GCG INS LDHA SLC16A1
2
Show member pathways
12.93 GCG INS LDHA SLC16A1
3
Show member pathways
11.75 GCG INS
4 11.62 GCG INS LDHA
5
Show member pathways
11.59 LDHA SLC16A1
6 11.47 GCG LDHA
7 11.43 INS LDHA
8
Show member pathways
10.98 GCG INS
9 10.9 ALDOB INS
10 10.72 LDHA SLC16A1
11 9.83 INS LDHA

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 secretory granule lumen GO:0034774 8.62 GCG INS

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

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.26 INS SLC16A1
2 regulation of insulin secretion GO:0050796 9.16 GCG SLC16A1
3 glycolytic process GO:0006096 8.96 ALDOB LDHA
4 pyruvate metabolic process GO:0006090 8.62 LDHA SLC16A1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 GCG INS
2 identical protein binding GO:0042802 8.92 ALDOB GCG INS LDHA

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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