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 ⁷²

Exercise-Induced Hyperinsulinemic Hypoglycemia ¹² ⁵³ ⁵⁹ ⁷⁴ ²⁹ ⁶ ⁴⁰

Hhf7 ⁵⁷ ¹² ⁵³ ⁷⁴

Familial Hyperinsulinemic Hypoglycemia 7 ¹² ⁷⁴ 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 autosomal dominant inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal 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:

Disease Ontology ¹² DOID:0070214

OMIM ⁵⁷ 610021 PS256450

ICD10 via Orphanet ³⁴ E16.1

UMLS via Orphanet ⁷³ C1864902

Orphanet ⁵⁹ ORPHA165991

MedGen ⁴² C1864902

UMLS ⁷² 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 hyperinsulinism and hyperinsulinemic 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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include pancreatic islet, 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 : ⁷⁴ Familial hyperinsulinemic hypoglycemia 7: Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.

More information from OMIM: 610021 PS256450

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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	hyperinsulinism	29.6	INS GCK
2	hyperinsulinemic hypoglycemia	29.4	SLC16A1 INS GCK
3	hypoglycemia	28.6	SLC16A1 INS GCK ACADM
4	monocarboxylate transporter 1 deficiency	10.1	SLC16A1 INS
5	fanconi-bickel syndrome	10.0	LDHA INS
6	maturity-onset diabetes of the young	9.8	INS GCK
7	maturity-onset diabetes of the young, type 2	9.8	INS GCK
8	maturity-onset diabetes of the young, type 3	9.8	INS GCK
9	maturity-onset diabetes of the young, type 1	9.8	INS GCK
10	maturity-onset diabetes of the young, type 13	9.8	INS GCK
11	endocrine pancreas disease	9.8	INS GCK
12	pancreatic agenesis	9.7	INS GCK
13	monogenic diabetes	9.7	INS GCK
14	maturity-onset diabetes of the young, type 7	9.7	INS GCK
15	diabetes mellitus, permanent neonatal	9.7	INS GCK
16	glucose metabolism disease	9.7	INS GCK
17	autosomal genetic disease	9.7	INS GCK
18	neonatal diabetes mellitus	9.7	INS GCK
19	acquired metabolic disease	9.6	INS GCK
20	insulinoma	9.6	INS GCK
21	gestational diabetes	9.6	INS GCK
22	glucose intolerance	9.5	INS GCK
23	hyperglycemia	9.4	INS GCK
24	3-hydroxyacyl-coa dehydrogenase deficiency	9.3	INS GCK ACADM
25	maturity-onset diabetes of the young, type 6	9.2	LDHA INS GCK
26	diabetes mellitus, insulin-dependent	9.2	INS GCK

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:

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

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

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

⁴⁶

#	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 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

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Publications for Hyperinsulinemic Hypoglycemia, Familial, 7

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 7:

#	Title	Authors	PMID	Year
1	Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. ⁸ ⁷¹	Otonkoski T...Kere J	17701893	2007
2	Exercise induced hypoglycaemic hyperinsulinism. ⁸ ⁷¹	Meissner T...Mayatepek E	11207177	2001
3	Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ³⁸ ⁸	Otonkoski T...Sipila I	12502513	2003
4	Why expression of some genes is disallowed in beta-cells. ⁸	Quintens R...Schuit F	18481946	2008
5	Familial Hyperinsulinism ⁷¹	Gillis D	20301549	2003
6	Familial hyperinsulinism presenting in adults. ⁸	Burman WJ...Bornemann M	1358043	1992

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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	1367.57	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵	17701893 20301549 11207177
1	SLC16A1::GH01J112953	TSS distance: +1.0kb Elite enhancer with elite association with SLC16A1			Curated enhancer-disease association ²³ ( 27569544 )	17701893
2	ACADM	Acyl-CoA Dehydrogenase Medium Chain	Protein Coding	15.49	DISEASES inferred ¹⁵
3	LDHA	Lactate Dehydrogenase A	Protein Coding	14.49	DISEASES inferred ¹⁵
4	GCK	Glucokinase	Protein Coding	14.32	DISEASES inferred ¹⁵
5	INS	Insulin	Protein Coding	14.22	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	GRCh37 Pos	GRCh38 Pos
1	SLC16A1	NM_003051.3(SLC16A1): c.-202G> A	single nucleotide variant	Pathogenic	rs387906403	1:113498814-113498814	1:112956192-112956192
2	SLC16A1	NM_003051.3(SLC16A1): c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	insertion	Pathogenic	rs606231172	1:113499002-113499003	1:112956380-112956381

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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 ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.48	SLC16A1 LDHA INS GCK ACADM
2	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.76	GCK ACADM
3	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	11.65	SLC16A1 LDHA
4	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.62	INS GCK
5	Glucagon signaling pathway ³⁷	11.54	LDHA GCK
6	HIF-1 signaling pathway ³⁷	11.51	LDHA INS
7	Regulation of beta-cell development ⁶⁶ Show member pathways Maturity onset diabetes of the young ³⁷ Regulation of gene expression in beta cells ⁶⁶ Regulation of gene expression in early pancreatic precursor cells ⁶⁶ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁶ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁶	11.49	INS GCK
8	Type II diabetes mellitus ¹ ³⁷ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶¹	11.44	INS GCK
9	Amino Acid metabolism ¹	11.36	LDHA ACADM
10	HIF-1-alpha transcription factor network ¹	11.18	LDHA GCK
11	Central carbon metabolism in cancer ³⁷	11.16	LDHA GCK
12	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.82	SLC16A1 LDHA
13	Propanoate metabolism ³⁷	10.69	LDHA ACADM
14	FOXA2 and FOXA3 transcription factor networks ¹	10.44	INS GCK ACADM
15	Cori Cycle ¹	10.16	LDHA INS

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

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⁷⁵ 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

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