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 ⁵³ ⁵⁹ ⁷⁵ ²⁹ ⁶ ⁴⁰

Hhf7 ⁵⁷ ⁵³ ⁷⁵

Hyperinsulinism Due to Monocarboxylate Transporter 1 Deficiency ⁵⁹

Hyperinsulinemic Hypoglycemia, Exercise-Induced ⁵⁷

Exercise Induced Hyperinsulinemic Hypoglycemia ⁵³

Hyperinsulinemic Hypoglycemia Exercise-Induced ⁵³

Hyperinsulinism Due to Slc16a1 Deficiency ⁵⁹

Hyperinsulinemic Hypoglycemia Familial 7 ⁵³

Familial Hyperinsulinemic Hypoglycemia 7 ⁷⁵

Exercise-Induced Hyperinsulinism ⁵⁹

Eihi ⁵⁹

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
Anatomical: Endocrine 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

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). Affiliated tissues include pancreatic islet, and related phenotypes are hyperinsulinemic hypoglycemia and hypoglycemic coma

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:

#	Related Disease	Score
1	hyperinsulinemic hypoglycemia	10.0
2	hypoglycemia	10.0
3	hyperinsulinism	9.9

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Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Pancreas:
islet cell hyperplasia, diffuse

Endocrine Features:
hyperinsulinemic hypoglycemia

Neurologic Central Nervous System:
loss on consciousness due to hypoglycemia
seizures, hypoglycemic

Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
exercise-induced hyperinsulinism
pyruvate-induced insulin secretion

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 coma ³²	HP:0001325
3	hypoglycemic seizures ³²	HP:0002173
4	pancreatic islet-cell hyperplasia ³²	HP:0004510

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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	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	1350	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹	11207177 17701893 20301549
1	SLC16A1::GH01J112953	TSS distance: +1.0kb Elite enhancer with elite association with SLC16A1			Curated enhancer-disease association ²³ ( 27569544 )	17701893

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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

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GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 7

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 7

¹ BioSystems

² BitterDB

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⁴ Cell Signaling Technology

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia