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

HHF7 MCID: HYP349 MIFTS: 42	Hyperinsulinemic Hypoglycemia, Familial, 7 (HHF7) Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁴³ ⁷¹

Exercise-Induced Hyperinsulinemic Hypoglycemia ¹² ⁵² ⁵⁸ ⁷³ ³⁹

Exercise-Induced Hyperinsulinism ¹² ⁵⁸ ²⁹ ⁶

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

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

MeSH ⁴³ C538376

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 related phenotypes are pancreatic islet-cell hyperplasia and hyperinsulinemic hypoglycemia

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 45)

#	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinemic hypoglycemia	29.2	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
2	hypoglycemia	29.2	SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3	hyperinsulinism	28.6	UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4	monocarboxylate transporter 1 deficiency	10.2	SLC16A1 GLUD1
5	fetal erythroblastosis	10.2	HADH GLUD1
6	fructose-1,6-bisphosphatase deficiency	10.2	GCK ABCC8
7	fanconi-bickel syndrome	10.2	LDHA ABCC8
8	maturity-onset diabetes of the young, type 11	10.1	KCNJ11 ABCC8
9	neu-laxova syndrome 2	10.1	GLUD1 ABCC8
10	maturity-onset diabetes of the young, type 10	10.1	KCNJ11 ABCC8
11	3-hydroxyacyl-coa dehydrogenase deficiency	10.1	HADH GLUD1 GCK
12	cardiomyopathy, dilated, 1o	10.0	KCNJ11 ABCC8
13	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.0	KCNJ11 ABCC8
14	cantu syndrome	10.0	KCNJ11 ABCC8
15	hyperinsulinemic hypoglycemia, familial, 1	10.0	KCNJ11 ABCC8
16	munchausen by proxy	10.0	KCNJ11 GCK ABCC8
17	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	9.9	KCNJ11 GCK ABCC8
18	maturity-onset diabetes of the young, type 1	9.9	KCNJ11 GCK ABCC8
19	maturity-onset diabetes of the young, type 13	9.9	KCNJ11 GCK ABCC8
20	maturity-onset diabetes of the young, type 7	9.9	KCNJ11 GCK ABCC8
21	maturity-onset diabetes of the young, type 9	9.9	KCNJ11 GCK ABCC8
22	maturity-onset diabetes of the young, type 6	9.9	KCNJ11 GCK ABCC8
23	maturity-onset diabetes of the young, type 4	9.9	KCNJ11 GCK ABCC8
24	maturity-onset diabetes of the young, type 2	9.9	KCNJ11 GCK ABCC8
25	renal cysts and diabetes syndrome	9.9	KCNJ11 GCK ABCC8
26	maturity-onset diabetes of the young, type 3	9.9	KCNJ11 GCK ABCC8
27	pancreatic cystadenoma	9.9	GCK ABCC8
28	monogenic diabetes	9.9	KCNJ11 GCK ABCC8
29	rare diabetes mellitus type 2	9.9	KCNJ11 GCK ABCC8
30	diabetes mellitus, ketosis-prone	9.9	KCNJ11 ABCC8
31	diabetes mellitus, permanent neonatal 1	9.9	KCNJ11 GCK ABCC8
32	intestinal atresia	9.9	RFX6 GCK
33	gestational diabetes	9.9	KCNJ11 GCK ABCC8
34	insulinoma	9.8	UCP2 GCK ABCC8
35	acute insulin response	9.8	UCP2 KCNJ11 ABCC8
36	asphyxia neonatorum	9.7	SLC16A1 KCNJ11 HADH ABCC8
37	hyperglycemia	9.6	KCNJ11 GCK ABCC8
38	hyperinsulinemic hypoglycemia, familial, 2	9.6	KCNJ11 ABCC8
39	glucose intolerance	9.5	UCP2 KCNJ11 GCK ABCC8
40	diabetes mellitus, permanent neonatal 4	9.5	RFX6 KCNJ11 GCK ABCC8
41	pancreatic agenesis	9.5	RFX6 KCNJ11 GCK ABCC8
42	transient neonatal diabetes mellitus	9.5	RFX6 KCNJ11 GCK ABCC8
43	neonatal diabetes mellitus	9.5	RFX6 KCNJ11 GCK ABCC8
44	hyperinsulinemic hypoglycemia, familial, 6	9.2	UCP2 SLC16A1 HADH GLUD1 GCK ABCC8
45	maturity-onset diabetes of the young	9.1	UCP2 RFX6 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	pancreatic islet-cell hyperplasia ³¹	HP:0004510
2	hyperinsulinemic hypoglycemia ³¹	HP:0000825
3	hypoglycemic coma ³¹	HP:0001325
4	hypoglycemic seizures ³¹	HP:0002173

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	growth/size/body region	MP:0005378	9.81	ACOT7 GCK GLUD1 HADH KCNJ11 LDHA
2	endocrine/exocrine gland	MP:0005379	9.8	ABCC8 GCK GLUD1 HADH KCNJ11 RFX6
3	homeostasis/metabolism	MP:0005376	9.7	ABCC8 ACOT7 GCK GLUD1 HADH KCNJ11
4	liver/biliary system	MP:0005370	9.02	ACOT7 GCK LDHA SLC16A1 UCP2

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Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 7

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

Cochrane evidence based reviews: 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 Hyperinsulinism 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

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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. ⁶ ⁵⁶	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 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1358.16	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ 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	GCK	Glucokinase	Protein Coding	6.47	DISEASES inferred ¹⁵
3	LDHA	Lactate Dehydrogenase A	Protein Coding	6.14	DISEASES inferred ¹⁵
4	HADH	Hydroxyacyl-CoA Dehydrogenase	Protein Coding	6.03	DISEASES inferred ¹⁵
5	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	6.03	DISEASES inferred ¹⁵
6	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	6.02	DISEASES inferred ¹⁵
7	ACOT7	Acyl-CoA Thioesterase 7	Protein Coding	5.83	DISEASES inferred ¹⁵
8	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	5.72	DISEASES inferred ¹⁵
9	UCP2	Uncoupling Protein 2	Protein Coding	5.69	DISEASES inferred ¹⁵
10	RFX6	Regulatory Factor X6	Protein Coding	5.66	DISEASES inferred ¹⁵
11	POFUT2	Protein O-Fucosyltransferase 2	Protein Coding	5.62	DISEASES inferred ¹⁵
12	LY75-CD302	LY75-CD302 Readthrough	Protein Coding	5.43	DISEASES inferred ¹⁵

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 7

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

⁶ (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC16A1	NM_003051.3(SLC16A1):c.-202G>A	SNV	Pathogenic	8916	rs387906403	1:113498814-113498814	1:112956192-112956192
2	SLC16A1	NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	insertion	Pathogenic	8917	rs606231172	1:113499002-113499003	1:112956380-112956381
3	SLC16A1	NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter)	SNV	Pathogenic	160370	rs606231310	1:113460046-113460046	1:112917424-112917424
4	SLC16A1	NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)	SNV	Likely pathogenic	827804		1:113464645-113464645	1:112922023-112922023
5	SLC16A1	NM_003051.3(SLC16A1):c.441C>T (p.Asn147=)	SNV	Conflicting interpretations of pathogenicity	258903	rs150246870	1:113460587-113460587	1:112917965-112917965
6	SLC16A1	NM_003051.3(SLC16A1):c.1430T>C (p.Val477Ala)	SNV	Uncertain significance	291852	rs886045067	1:113456586-113456586	1:112913964-112913964
7	SLC16A1	NM_003051.3(SLC16A1):c.1345G>A (p.Ala449Thr)	SNV	Uncertain significance	291853	rs756006376	1:113456671-113456671	1:112914049-112914049
8	SLC16A1	NM_003051.3(SLC16A1):c.983G>T (p.Arg328Leu)	SNV	Uncertain significance	291860	rs774823539	1:113460045-113460045	1:112917423-112917423
9	SLC16A1	NM_003051.3(SLC16A1):c.527G>A (p.Gly176Glu)	SNV	Uncertain significance	291865	rs766830652	1:113460501-113460501	1:112917879-112917879
10	SLC16A1	NM_003051.3(SLC16A1):c.72T>A (p.Ile24=)	SNV	Uncertain significance	291889	rs760137043	1:113471859-113471859	1:112929237-112929237
11	SLC16A1	NM_003051.3(SLC16A1):c.-87C>T	SNV	Uncertain significance	291911	rs886045087	1:113498699-113498699	1:112956077-112956077
12	SLC16A1	NM_003051.3(SLC16A1):c.-360G>A	SNV	Uncertain significance	291925	rs758825428	1:113498972-113498972	1:112956350-112956350
13	SLC16A1	NM_003051.3(SLC16A1):c.-201T>A	SNV	Uncertain significance	436732	rs753315328	1:113498813-113498813	1:112956191-112956191
14	SLC16A1	NM_003051.3(SLC16A1):c.*815G>A	SNV	Uncertain significance	291842	rs556305447	1:113455698-113455698	1:112913076-112913076
15	SLC16A1	NM_003051.3(SLC16A1):c.*739T>G	SNV	Uncertain significance	291843	rs570060559	1:113455774-113455774	1:112913152-112913152
16	SLC16A1	NM_003051.3(SLC16A1):c.*603T>C	SNV	Uncertain significance	291845	rs527658261	1:113455910-113455910	1:112913288-112913288
17	SLC16A1	NM_003051.4(SLC16A1):c.*1654A>G	SNV	Uncertain significance	875888		1:113454859-113454859	1:112912237-112912237
18	SLC16A1	NM_003051.4(SLC16A1):c.*1134G>A	SNV	Uncertain significance	876883		1:113455379-113455379	1:112912757-112912757
19	SLC16A1	NM_003051.4(SLC16A1):c.*1071T>C	SNV	Uncertain significance	876884		1:113455442-113455442	1:112912820-112912820
20	SLC16A1	NM_003051.4(SLC16A1):c.*1044T>G	SNV	Uncertain significance	876885		1:113455469-113455469	1:112912847-112912847
21	SLC16A1	NM_003051.4(SLC16A1):c.*946G>A	SNV	Uncertain significance	874081		1:113455567-113455567	1:112912945-112912945
22	SLC16A1	NM_003051.4(SLC16A1):c.*739T>C	SNV	Uncertain significance	874082		1:113455774-113455774	1:112913152-112913152
23	SLC16A1	NM_003051.4(SLC16A1):c.*657C>A	SNV	Uncertain significance	874083		1:113455856-113455856	1:112913234-112913234
24	SLC16A1	NM_003051.4(SLC16A1):c.*361G>T	SNV	Uncertain significance	875013		1:113456152-113456152	1:112913530-112913530
25	SLC16A1	NM_003051.4(SLC16A1):c.*137A>T	SNV	Uncertain significance	875015		1:113456376-113456376	1:112913754-112913754
26	SLC16A1	NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)	SNV	Uncertain significance	875941		1:113456649-113456649	1:112914027-112914027
27	SLC16A1	NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)	SNV	Uncertain significance	876928		1:113456735-113456735	1:112914113-112914113
28	SLC16A1	NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)	SNV	Uncertain significance	874138		1:113460348-113460348	1:112917726-112917726
29	SLC16A1	NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)	SNV	Uncertain significance	874139		1:113460488-113460488	1:112917866-112917866
30	SLC16A1	NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)	SNV	Uncertain significance	875999		1:113464678-113464678	1:112922056-112922056
31	SLC16A1	NC_000001.11:g.112956204G>C	SNV	Uncertain significance	874247		1:113498826-113498826	1:112956204-112956204
32	SLC16A1	NC_000001.11:g.112956208C>T	SNV	Uncertain significance	874248		1:113498830-113498830	1:112956208-112956208
33	SLC16A1	NC_000001.11:g.112956306C>T	SNV	Uncertain significance	875169		1:113498928-113498928	1:112956306-112956306
34	SLC16A1	NC_000001.11:g.112956314A>C	SNV	Uncertain significance	875170		1:113498936-113498936	1:112956314-112956314
35	SLC16A1	NM_003051.3(SLC16A1):c.*1801A>G	SNV	Uncertain significance	291829	rs750135904	1:113454712-113454712	1:112912090-112912090
36	SLC16A1	NM_003051.3(SLC16A1):c.*104C>T	SNV	Uncertain significance	291849	rs182505461	1:113456409-113456409	1:112913787-112913787
37	SLC16A1	NM_003051.3(SLC16A1):c.1117G>A (p.Val373Ile)	SNV	Uncertain significance	291859	rs200802632	1:113459911-113459911	1:112917289-112917289
38	SLC16A1	NM_003051.3(SLC16A1):c.-92G>T	SNV	Uncertain significance	291912	rs144301005	1:113498704-113498704	1:112956082-112956082
39	SLC16A1	NM_003051.3(SLC16A1):c.-313T>C	SNV	Uncertain significance	291921	rs886045090	1:113498925-113498925	1:112956303-112956303
40	SLC16A1	NM_003051.3(SLC16A1):c.*1064G>T	SNV	Uncertain significance	291837	rs886045063	1:113455449-113455449	1:112912827-112912827
41	SLC16A1	NM_003051.3(SLC16A1):c.*1051G>A	SNV	Uncertain significance	291838	rs886045064	1:113455462-113455462	1:112912840-112912840
42	SLC16A1	NM_003051.3(SLC16A1):c.*948G>A	SNV	Uncertain significance	291841	rs543171131	1:113455565-113455565	1:112912943-112912943
43	SLC16A1	NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=)	SNV	Uncertain significance	291854	rs773196238	1:113456674-113456674	1:112914052-112914052
44	SLC16A1	NM_003051.3(SLC16A1):c.-163T>C	SNV	Uncertain significance	291913	rs886045088	1:113498775-113498775	1:112956153-112956153
45	SLC16A1	NM_003051.3(SLC16A1):c.-248G>T	SNV	Uncertain significance	291917	rs762453730	1:113498860-113498860	1:112956238-112956238
46	SLC16A1	NM_003051.3(SLC16A1):c.-249C>T	SNV	Uncertain significance	291918	rs60953496	1:113498861-113498861	1:112956239-112956239
47	SLC16A1	NM_003051.3(SLC16A1):c.*1312G>C	SNV	Uncertain significance	291832	rs886045059	1:113455201-113455201	1:112912579-112912579
48	SLC16A1	NM_003051.3(SLC16A1):c.*1072G>T	SNV	Uncertain significance	291836	rs886045062	1:113455441-113455441	1:112912819-112912819
49	SLC16A1	NM_003051.3(SLC16A1):c.*1018T>G	SNV	Uncertain significance	291839	rs774371594	1:113455495-113455495	1:112912873-112912873
50	SLC16A1	NM_003051.3(SLC16A1):c.*629C>T	SNV	Uncertain significance	291844	rs540946001	1:113455884-113455884	1:112913262-112913262

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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	Development_Leptin signaling via PI3K-dependent pathway ²²	11.08	KCNJ11 ABCC8
5	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.89	SLC16A1 LDHA
6	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	9.63	POFUT2 LDHA GCK
2	response to drug	GO:0042493	9.56	LDHA KCNJ11 HADH ABCC8
3	glucose homeostasis	GO:0042593	9.5	SLC16A1 RFX6 GCK
4	positive regulation of insulin secretion	GO:0032024	9.48	GLUD1 GCK
5	glycolytic process	GO:0006096	9.43	LDHA GCK
6	cellular glucose homeostasis	GO:0001678	9.4	GCK ABCC8
7	pyruvate metabolic process	GO:0006090	9.37	SLC16A1 LDHA
8	inorganic cation transmembrane transport	GO:0098662	9.16	KCNJ11 ABCC8
9	negative regulation of insulin secretion	GO:0046676	9.13	KCNJ11 HADH ABCC8
10	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	cation-transporting ATPase activity	GO:0019829	9.16	KCNJ11 ABCC8
2	NAD+ binding	GO:0070403	8.96	HADH GLUD1
3	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.62	KCNJ11 ABCC8

Sources

Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

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⁴⁰ MalaCards

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

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

Cochrane evidence based reviews: 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