Hyperinsulinemic Hypoglycemia, Familial, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Endocrine, nutritional and metabolic diseases

Other disorders of glucose regulation and pancreatic internal secretion

Other disorders of pancreatic internal secretion

Other hypoglycaemia

Orphanet: ⁶⁰

Inborn errors of metabolism

Rare endocrine diseases

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

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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

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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:

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Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 7

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 7:

³³

#	Description	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

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Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 7

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 7

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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

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Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

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

⁴²

Pancreatic Islet, Pancreas

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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 )	Otonkoski T...Kere J	2007
2	Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ( 12502513 )	Otonkoski T...Sipil? I	2003
3	Exercise induced hypoglycaemic hyperinsulinism. ( 11207177 )	Meissner T...Mayatepek E	2001

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Genes for Hyperinsulinemic Hypoglycemia, Familial, 7

Genes/enhancers related to Hyperinsulinemic Hypoglycemia, Familial, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1367.59	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵	11207177 17701893 20301549
1	SLC16A1::GH01J112953	TSS distance: +1.0kb Elite enhancer with elite association with SLC16A1			Curated enhancer-disease association ²⁴ ( 27569544 )	17701893
2	ACADM	Acyl-CoA Dehydrogenase Medium Chain	Protein Coding	15.55	DISEASES inferred ¹⁵
3	LDHA	Lactate Dehydrogenase A	Protein Coding	14.5	DISEASES inferred ¹⁵
4	GCK	Glucokinase	Protein Coding	14.33	DISEASES inferred ¹⁵
5	INS	Insulin	Protein Coding	14.24	DISEASES inferred ¹⁵

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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

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Expression for Hyperinsulinemic Hypoglycemia, Familial, 7

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 7.

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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	Metabolism ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.48	ACADM GCK INS LDHA SLC16A1
2	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.76	ACADM GCK
3	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁷ Show member pathways Citric acid cycle (TCA cycle) ⁶⁷ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁷ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁷ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁷ TCA Cycle ¹	11.65	LDHA SLC16A1
4	Hepatic ABC Transporters ⁶⁵ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁵	11.62	GCK INS
5	Glucagon signaling pathway ³⁸	11.52	GCK LDHA
6	HIF-1 signaling pathway ³⁸	11.49	INS LDHA
7	Regulation of beta-cell development ⁶⁷ Show member pathways Maturity onset diabetes of the young ³⁸ Regulation of gene expression in beta cells ⁶⁷ Regulation of gene expression in early pancreatic precursor cells ⁶⁷ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁷ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁷	11.48	GCK INS
8	Type II diabetes mellitus ¹ ³⁸ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶²	11.44	GCK INS
9	Amino Acid metabolism ¹	11.36	ACADM LDHA
10	Central carbon metabolism in cancer ³⁸	11.18	GCK LDHA
11	HIF-1-alpha transcription factor network ¹	11.13	GCK LDHA
12	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.82	LDHA SLC16A1
13	Propanoate metabolism ³⁸	10.66	ACADM LDHA
14	FOXA2 and FOXA3 transcription factor networks ¹	10.44	ACADM GCK INS
15	Cori Cycle ¹	10.16	INS LDHA

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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

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Hyperinsulinemic Hypoglycemia, Familial, 7 (HHF7)

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 7

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 7:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 7

Diseases in the Hyperinsulinemic Hypoglycemia family:

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 7:

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 7

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 7

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 7

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 7:

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

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

Publications for Hyperinsulinemic Hypoglycemia, Familial, 7

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 7:

Genes for Hyperinsulinemic Hypoglycemia, Familial, 7

Genes/enhancers related to Hyperinsulinemic Hypoglycemia, Familial, 7 (1 elite genes):

Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

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

Expression for Hyperinsulinemic Hypoglycemia, Familial, 7

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 7

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

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 7

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

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7