MCID: HYP349
MIFTS: 23

Hyperinsulinemic Hypoglycemia, Familial, 7

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine 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 53 59 75 29 6 40
Hhf7 57 53 75
Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency 59
Hyperinsulinemic Hypoglycemia, Exercise-Induced 57
Exercise Induced Hyperinsulinemic Hypoglycemia 53
Hyperinsulinemic Hypoglycemia Exercise-Induced 53
Hyperinsulinism Due to Slc16a1 Deficiency 59
Hyperinsulinemic Hypoglycemia Familial 7 53
Familial Hyperinsulinemic Hypoglycemia 7 75
Exercise-Induced Hyperinsulinism 59
Eihi 59

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:

OMIM 57 610021
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). Affiliated tissues include pancreatic islet, and related phenotypes are hyperinsulinemic hypoglycemia and hypoglycemic coma

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:

# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia 10.0
2 hypoglycemia 10.0
3 hyperinsulinism 9.9

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 7

Symptoms via clinical synopsis from OMIM:

57
Abdomen Pancreas:
islet cell hyperplasia, diffuse

Endocrine Features:
hyperinsulinemic hypoglycemia

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

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


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 coma 32 HP:0001325
3 hypoglycemic seizures 32 HP:0002173
4 pancreatic islet-cell hyperplasia 32 HP:0004510

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 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

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 7

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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