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 ⁵⁶ ¹³ ⁷¹

Exercise-Induced Hyperinsulinemic Hypoglycemia ¹² ⁵² ⁵⁸ ⁷³ ²⁹ ⁶ ³⁹

Hhf7 ⁵⁶ ¹² ⁵² ⁷³

Familial Hyperinsulinemic Hypoglycemia 7 ¹² ⁷³ ¹⁵

Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency ¹² ⁵⁸

Hyperinsulinism Due to Slc16a1 Deficiency ¹² ⁵⁸

Exercise-Induced Hyperinsulinism ¹² ⁵⁸

Eihi ¹² ⁵⁸

Hyperinsulinemic Hypoglycemia, Exercise-Induced ⁵⁶

Exercise Induced Hyperinsulinemic Hypoglycemia ⁵²

Hyperinsulinemic Hypoglycemia Exercise-Induced ⁵²

Hyperinsulinemic Hypoglycemia Familial 7 ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

exercise-induced hyperinsulinism
Inheritance: Autosomal dominant;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )

HPO:

³¹

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: ³³

Endocrine, nutritional and metabolic diseases

Other disorders of glucose regulation and pancreatic internal secretion

Other disorders of pancreatic internal secretion

Other hypoglycaemia

Orphanet: ⁵⁸

Inborn errors of metabolism

Rare endocrine diseases

External Ids:

Disease Ontology ¹² DOID:0070214

OMIM ⁵⁶ 610021

OMIM Phenotypic Series ⁵⁶ PS256450

ICD10 via Orphanet ³³ E16.1

UMLS via Orphanet ⁷² C1864902

Orphanet ⁵⁸ ORPHA165991

MedGen ⁴¹ C1864902

SNOMED-CT via HPO ⁶⁸ 263681008 267384006

UMLS ⁷¹ C1864902

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Summaries for Hyperinsulinemic Hypoglycemia, Familial, 7

NIH Rare Diseases : ⁵² 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 Type II diabetes mellitus. 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 : ⁷³ 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 48)

#	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinemic hypoglycemia	28.7	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
2	hypoglycemia	28.7	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3	hyperinsulinism	28.1	UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4	monocarboxylate transporter 1 deficiency	10.3	SLC16A1 GLUD1
5	fanconi-bickel syndrome	10.2	LDHA ABCC8
6	fetal erythroblastosis	10.2	HADH GLUD1
7	intestinal atresia	10.1	RFX6 GCK
8	pancreatic cystadenoma	10.0	GCK ABCC8
9	3-hydroxyacyl-coa dehydrogenase deficiency	10.0	HADH GLUD1 GCK
10	maturity-onset diabetes of the young, type 11	9.8	KCNJ11 ABCC8
11	insulinoma	9.8	UCP2 GCK ABCC8
12	donohue syndrome	9.8	KCNJ11 GCK
13	cantu syndrome	9.8	KCNJ11 ABCC8
14	cardiomyopathy, dilated, 1o	9.8	KCNJ11 ABCC8
15	munchausen by proxy	9.7	KCNJ11 GCK ABCC8
16	diabetes mellitus, ketosis-prone	9.7	KCNJ11 ABCC8
17	maturity-onset diabetes of the young, type 1	9.7	KCNJ11 GCK ABCC8
18	maturity-onset diabetes of the young, type 13	9.7	KCNJ11 GCK ABCC8
19	maturity-onset diabetes of the young, type 10	9.7	KCNJ11 GCK ABCC8
20	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	9.7	KCNJ11 GCK ABCC8
21	maturity-onset diabetes of the young, type 7	9.7	KCNJ11 GCK ABCC8
22	maturity-onset diabetes of the young, type 9	9.7	KCNJ11 GCK ABCC8
23	maturity-onset diabetes of the young, type 6	9.7	KCNJ11 GCK ABCC8
24	maturity-onset diabetes of the young, type 4	9.7	KCNJ11 GCK ABCC8
25	maturity-onset diabetes of the young, type 2	9.6	KCNJ11 GCK ABCC8
26	renal cysts and diabetes syndrome	9.6	KCNJ11 GCK ABCC8
27	maturity-onset diabetes of the young, type 3	9.6	KCNJ11 GCK ABCC8
28	monogenic diabetes	9.6	KCNJ11 GCK ABCC8
29	rare diabetes mellitus type 2	9.6	KCNJ11 GCK ABCC8
30	gestational diabetes	9.6	KCNJ11 GCK ABCC8
31	hyperinsulinemic hypoglycemia, familial, 6	9.6	SLC16A1 HADH GLUD1 GCK ABCC8
32	glucose metabolism disease	9.5	KCNJ11 GCK ABCC8
33	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	9.5	RFX6 KCNJ11 ABCC8
34	hyperinsulinemic hypoglycemia, familial, 2	9.5	KCNJ11 ABCC8
35	acute insulin response	9.5	UCP2 KCNJ11 ABCC8
36	hyperglycemia	9.5	KCNJ11 GCK ABCC8
37	carbohydrate metabolic disorder	9.4	KCNJ11 GLUD1 GCK ABCC8
38	asphyxia neonatorum	9.4	SLC16A1 KCNJ11 HADH ABCC8
39	beckwith-wiedemann syndrome	9.4	SLC16A1 KCNJ11 ABCC8
40	pancreatic agenesis	9.4	RFX6 KCNJ11 GCK ABCC8
41	transient neonatal diabetes mellitus	9.3	RFX6 KCNJ11 GCK ABCC8
42	neonatal diabetes mellitus	9.3	RFX6 KCNJ11 GCK ABCC8
43	maturity-onset diabetes of the young	9.3	RFX6 KCNJ11 GCK ABCC8
44	diabetes mellitus, permanent neonatal	9.3	RFX6 KCNJ11 GCK ABCC8
45	endocrine pancreas disease	9.3	UCP2 KCNJ11 GCK ABCC8
46	glucose intolerance	9.2	UCP2 KCNJ11 GCK ABCC8
47	body mass index quantitative trait locus 11	9.0	UCP2 MIR151A KCNJ11 GCK ABCC8
48	diabetes mellitus, noninsulin-dependent	8.5	UCP2 MIR151A KCNJ11 GCK ABCC8

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:

³¹

#	Description	HPO Source Accession
1	hyperinsulinemic hypoglycemia ³¹	HP:0000825
2	hypoglycemic seizures ³¹	HP:0002173
3	pancreatic islet-cell hyperplasia ³¹	HP:0004510
4	hypoglycemic coma ³¹	HP:0001325

Symptoms via clinical synopsis from OMIM:

⁵⁶

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.7	ABCC8 GCK GLUD1 HADH KCNJ11 RFX6
2	growth/size/body region	MP:0005378	9.61	ACOT7 GCK GLUD1 HADH KCNJ11 LDHA
3	homeostasis/metabolism	MP:0005376	9.36	ABCC8 ACOT7 GCK GLUD1 HADH KCNJ11

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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:

⁴⁰

Pancreatic Islet, Pancreas

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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. ⁵⁶ ⁶	Otonkoski T...Kere J	17701893	2007
2	Exercise induced hypoglycaemic hyperinsulinism. ⁵⁶ ⁶	Meissner T...Mayatepek E	11207177	2001
3	Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. ⁶¹ ⁵⁶	Otonkoski T...Sipila I	12502513	2003
4	Why expression of some genes is disallowed in beta-cells. ⁵⁶	Quintens R...Schuit F	18481946	2008
5	Familial Hyperinsulinism ⁶	Gillis D	20301549	2003
6	Familial hyperinsulinism presenting in adults. ⁵⁶	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):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1358.1	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵	11207177 20301549 17701893
1	SLC16A1::GH01J112953	TSS distance: +1.0kb Elite enhancer with elite association with SLC16A1			Curated enhancer-disease association ²³ ( 27569544 )	17701893
2	MIR151A	MicroRNA 151a	RNA Gene	7.14	DISEASES inferred ¹⁵ ¹⁵
3	GCK	Glucokinase	Protein Coding	6.38	DISEASES inferred ¹⁵
4	ACOT7	Acyl-CoA Thioesterase 7	Protein Coding	6.27	DISEASES inferred ¹⁵
5	LDHA	Lactate Dehydrogenase A	Protein Coding	6.19	DISEASES inferred ¹⁵
6	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	5.97	DISEASES inferred ¹⁵
7	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	5.89	DISEASES inferred ¹⁵
8	HADH	Hydroxyacyl-CoA Dehydrogenase	Protein Coding	5.87	DISEASES inferred ¹⁵
9	RFX6	Regulatory Factor X6	Protein Coding	5.85	DISEASES inferred ¹⁵
10	UCP2	Uncoupling Protein 2	Protein Coding	5.71	DISEASES inferred ¹⁵
11	POFUT2	Protein O-Fucosyltransferase 2	Protein Coding	5.69	DISEASES inferred ¹⁵
12	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	5.65	DISEASES inferred ¹⁵
13	LY75-CD302	LY75-CD302 Readthrough	Protein Coding	5.47	DISEASES inferred ¹⁵

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC16A1	NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter)	SNV	Pathogenic	160370	rs606231310	1:113460046-113460046	1:112917424-112917424
2	SLC16A1	NM_003051.3(SLC16A1):c.-202G>A	SNV	Pathogenic	8916	rs387906403	1:113498814-113498814	1:112956192-112956192
3	SLC16A1	NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	insertion	Pathogenic	8917	rs606231172	1:113499002-113499003	1:112956380-112956381
4	SLC16A1	NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser)	SNV	Uncertain significance	291861	rs77373295	1:113460049-113460049	1:112917427-112917427
5	SLC16A1	NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)	SNV	Likely benign	801532		1:113460624-113460624	1:112918002-112918002

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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:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.56	UCP2 SLC16A1 LDHA KCNJ11 HADH GLUD1
2	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.31	KCNJ11 GCK ABCC8
3	Amino Acid metabolism ¹	11.09	LDHA HADH GLUD1
4	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.89	SLC16A1 LDHA
5	FOXA2 and FOXA3 transcription factor networks ¹	10.66	UCP2 KCNJ11 HADH GCK ABCC8

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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	mitochondrion	GO:0005739	9.5	UCP2 KCNJ11 HADH GLUD1 GCK ACOT7
2	inward rectifying potassium channel	GO:0008282	8.62	KCNJ11 ABCC8

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	9.61	POFUT2 LDHA GCK
2	positive regulation of insulin secretion	GO:0032024	9.46	GLUD1 GCK
3	response to drug	GO:0042493	9.46	LDHA KCNJ11 HADH ABCC8
4	glucose homeostasis	GO:0042593	9.43	SLC16A1 RFX6 GCK
5	glycolytic process	GO:0006096	9.4	LDHA GCK
6	pyruvate metabolic process	GO:0006090	9.37	SLC16A1 LDHA
7	cellular glucose homeostasis	GO:0001678	9.32	GCK ABCC8
8	negative regulation of insulin secretion	GO:0046676	9.13	KCNJ11 HADH ABCC8
9	regulation of insulin secretion	GO:0050796	9.02	SLC16A1 RFX6 KCNJ11 GCK ABCC8

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

#	Name	GO ID	Score	Top Affiliating Genes
1	NAD+ binding	GO:0070403	8.62	HADH GLUD1

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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