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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Other disorders of glucose regulation and pancreatic internal secretion

Other disorders of pancreatic internal secretion

Other hypoglycaemia

Orphanet: ⁵⁹

Inborn errors of metabolism

Rare endocrine diseases

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

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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

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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 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:

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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 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

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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 ²⁹	SLC16A1

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Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 7

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

⁴¹

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 hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ( 12502513 )	Otonkoski T....SipilAo I.	2003

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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	1367.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵	11207177 17701893 20301549
1	SLC16A1::GH01J112953	TSS distance: +1.0kb Elite enhancer with elite association with SLC16A1			Curated enhancer-disease association ²³ ( 27569544 )	17701893
2	ALDOB	Aldolase, Fructose-Bisphosphate B	Protein Coding	15.19	DISEASES inferred ¹⁵
3	LDHA	Lactate Dehydrogenase A	Protein Coding	14.55	DISEASES inferred ¹⁵
4	INS	Insulin	Protein Coding	14.28	DISEASES inferred ¹⁵
5	GCG	Glucagon	Protein Coding	2.96	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 11)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.44	ALDOB GCG INS LDHA SLC16A1
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	12.93	GCG INS LDHA SLC16A1
3	Peptide hormone metabolism ⁶⁶ Show member pathways Glycoprotein hormones ⁶⁶ Insulin processing ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁶⁶ Peptide hormone biosynthesis ⁶⁶ Synthesis, secretion, and deacylation of Ghrelin ⁶⁶	11.75	GCG INS
4	Glucose / Energy Metabolism ⁴	11.62	GCG INS LDHA
5	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁶ Show member pathways Citric acid cycle (TCA cycle) ⁶⁶ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁶ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁶ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁶ TCA Cycle ¹	11.59	LDHA SLC16A1
6	Glucagon signaling pathway ³⁷	11.47	GCG LDHA
7	HIF-1 signaling pathway ³⁷	11.43	INS LDHA
8	FOXA1 transcription factor network ¹ Show member pathways FOXA transcription factor networks ¹	10.98	GCG INS
9	FOXA2 and FOXA3 transcription factor networks ¹	10.9	ALDOB INS
10	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.72	LDHA SLC16A1
11	Cori Cycle ¹	9.83	INS LDHA

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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

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 7:

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

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

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

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

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7