FHI
MCID: FML184
MIFTS: 47

Familial Hyperinsulinism (FHI) malady

Endocrine, Genetic categories

Summaries for Familial Hyperinsulinism

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). in infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. mutations in at least seven genes have been found to cause this condition. it is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern. last updated: 12/21/2011

MalaCards: Familial Hyperinsulinism, also known as persistent hyperinsulinemia hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia and hypoglycemia. An important gene associated with Familial Hyperinsulinism is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Development Leptin signaling via PI3K-dependent pathway and Inwardly rectifying K+ channels. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Affiliated tissues include pancreas and pancreatic islet, and related mouse phenotypes are endocrine/exocrine gland and growth/size.

Genetics Home Reference:21 Familial hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and coma.

Wikipedia:64 Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which... more...

GeneReviews summary for hi

Aliases & Classifications for Familial Hyperinsulinism

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Endocrine


Aliases & Descriptions:

familial hyperinsulinism 19 43 20 22 21
persistent hyperinsulinemia hypoglycemia of infancy 21 61
persistent hyperinsulinemic hypoglycemia of infancy 19 22
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia 43
hyperinsulinism familial with pancreatic nesidioblastosis 43
hyperinsulinemic hypoglycemia, familial, 2 61
hyperinsulinemia hypoglycemia of infancy 21
persistent hyperinsulinemic hypoglycemia 21
hyperinsulinemic hypoglycemia familial 43
infancy hyperinsulinemia hypoglycemia 21
congenital hyperinsulinism 43
hyperinsulinism congenital 43
hyperinsulinism, familial 61
neonatal hyperinsulinism 21
phhi hypoglycemia 21
phhi 19
fhi 19


Related Diseases for Familial Hyperinsulinism

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Hyperinsulinism family:

hyperinsulinism

Diseases related to Familial Hyperinsulinism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia31.9INS, ABCC8
2hypoglycemia31.8KCNJ11, GCK, HNF4A, HADH, GLUD1, INS
3hyperinsulinism30.9KCNJ11, GCK, HNF4A, GLUD1, INS, ABCC8
4glucose intolerance30.5GCK, INS
5adenoma30.5INS, HNF4A
6insulinoma30.5KCNJ11, GCK, HNF4A, GLUD1, INS, ABCC8
7beckwith-wiedemann syndrome30.0ABCC8
8hyperinsulinism-hyperammonemia syndrome30.0GLUD1
9neonatal diabetes mellitus30.0KCNJ11, GCK, INS, ABCC8
10hyperinsulinism, focal10.8
11hyperinsulinemic hypoglycemia familial 310.6
12hyperinsulinemic hypoglycemia familial 210.5
13exercise-induced hyperinsulinemic hypoglycemia10.5
14hyperinsulinism, diffuse10.4
15adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.4
16somatostatin analog10.4
17hyperinsulinemic hypoglycemia, familial, 410.4
18hyperinsulinemic hypoglycemia, familial, 510.4
19fuchs' heterochromic uveitis10.3
20acute insulin response10.3
21west syndrome10.2
22glud1-related hyperinsulinism10.2
23hepatitis c10.2
24hypertrophic cardiomyopathy10.2
25n syndrome10.1
26thrombocytopenia10.1
27familial hypertrophic cardiomyopathy10.0
28retinal vasculitis10.0
29galactokinase deficiency10.0
30retinitis pigmentosa10.0
31drug-induced hepatitis10.0
32hepatitis d10.0
33septo-optic dysplasia10.0
34usher syndrome10.0
35abcc8-related hyperinsulinism10.0
36hyperinsulinemic hypoglycemia, familial, 110.0
373-hydroxyacyl-coa dehydrogenase deficiency10.0HADH
38liver cirrhosis10.0GCK
39pancreatitis10.0INS
40pituitary adenoma10.0ABCC8
41diarrhea10.0INS
42diabetic ketoacidosis10.0INS
43essential hypertension10.0INS
44hyperuricemia10.0INS, GCK
45diabetes mellitus, noninsulin-dependent10.0HNF4A, ABCC8
46permanent neonatal diabetes mellitus10.0GCK, INS, ABCC8
47ischemia10.0GCK, GLUD1, ABCC8
48epilepsy syndrome10.0ABCC8, GLUD1, KCNJ11
49hyperammonemia multi-gene panels10.0KCNJ11, GCK, GLUD1, ABCC8
50type 1 diabetes10.0INS, HNF4A, GCK

Graphical network of the top 20 diseases related to Familial Hyperinsulinism:



Diseases related to familial hyperinsulinism

Clinical Features for Familial Hyperinsulinism

Drugs & Therapeutics for Familial Hyperinsulinism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Hyperinsulinism

Drug clinical trials:

Search ClinicalTrials for Familial Hyperinsulinism

Search NIH Clinical Center for Familial Hyperinsulinism

Search CenterWatch for Familial Hyperinsulinism

Genetic Tests for Familial Hyperinsulinism

Sources:
20GeneTests, 22GTR
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Genetic tests related to Familial Hyperinsulinism:

id Genetic test Affiliating Genes
1 Familial Hyperinsulinism Multi-gene Panels20
2 Familial Hyperinsulinism20 22 UCP2
3 Persistent Hyperinsulinemic Hypoglycemia Of Infancy22

Anatomical Context for Familial Hyperinsulinism

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Hyperinsulinism:

33
Pancreas, Pancreatic islet

Animal Models for Familial Hyperinsulinism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Hyperinsulinism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.5HADH, GCK, GLUD1, INS, ABCC8, KCNJ11
2MP:00053787.2KCNJ11, GCK, HNF4A, HADH, GLUD1, INS
3MP:00053766.4INS, GLUD1, HADH, HNF4A, ABCC8, GCK

Publications for Familial Hyperinsulinism

Sources:
51PubMed
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Articles related to Familial Hyperinsulinism:

(show all 28)
idTitleAuthorsYear
1
A dominant ABCC8-related hyperinsulinism: familial case ReportMoreira et al. ABCC8-related hyperinsulinism. (23301914)
2013
2
Hepatocyte nuclear factor 4I+ gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young. (21353246)
2011
3
Familial focal congenital hyperinsulinism. (20943779)
2011
4
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report. (21073125)
2010
5
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. (11867634)
2002
6
Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. (11457841)
2001
7
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. (10720932)
2000
8
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. (10447255)
1999
9
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. (9469993)
1998
10
Familial hyperinsulinism caused by an activating glucokinase mutation. (9435328)
1998
11
Genetic heterogeneity in familial hyperinsulinism. (9618169)
1998
12
Clinical and molecular heterogeneity of familial hyperinsulinism. (9843361)
1998
13
Effect of glucagon on glucose production, lipolysis, and gluconeogenesis in familial hyperinsulinism. (9701703)
1998
14
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. (9356020)
1997
15
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. (8923011)
1996
16
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996
17
Familial hyperinsulinism]. (7637980)
1995
18
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. (7633448)
1995
19
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. (7920639)
1994
20
Familial Hyperinsulinism (20301549)
1993
21
Familial hyperinsulinism presenting in adults. (1358043)
1992
22
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. (1421899)
1992
23
Familial hyperinsulinism: successful conservative management. (1941376)
1991
24
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. (1941377)
1991
25
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. (2624273)
1989
26
Immunohistochemical, morphometric, and clinical studies of the pancreatic islets in infants with persistent neonatal hypoglycemia of familial type with hyperinsulinism and nesidioblastosis. (6114606)
1981
27
A familial form of obesity without hyperinsulinism at the outset. (7014300)
1981
28
Significance of argyrophil parenchymal cells in the pancreatic islets in persistent neonatal hypoglycemia with hyperinsulinism of familial type. (7034341)
1981

Genetic Variations for Familial Hyperinsulinism

Expression for genes affiliated with Familial Hyperinsulinism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hyperinsulinism

Search GEO for disease gene expression data for Familial Hyperinsulinism.

Pathways for genes affiliated with Familial Hyperinsulinism

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Familial Hyperinsulinism

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB
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Compounds related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1minoxidil45 29 1112.3ABCC8
2cibenzoline4510.1KCNJ11, ABCC8
3nicorandil45 2911.1ABCC8, KCNJ11
4mgadp4510.0KCNJ11, ABCC8
5cromakalim45 2911.0KCNJ11, ABCC8
6meglitinide459.9INS, ABCC8
7mitiglinide45 1110.9ABCC8, INS
8chromium picolinate459.9GCK, INS
9glipizide45 1110.9ABCC8, INS
10chlorpropamide45 1110.9INS, ABCC8
11preproinsulin459.8GCK, INS
12Glyburide119.8ABCC8, KCNJ11
13i-app459.8GCK, INS
14alpha-ketoisocaproate459.8GCK, GLUD1
15incretin459.8GCK, INS
16nateglinide45 50 1111.7INS, ABCC8
17repaglinide45 50 1111.6ABCC8, KCNJ11, INS
18glimepiride45 50 1111.6KCNJ11, ABCC8, INS
19gliclazide45 50 1111.6ABCC8, KCNJ11, INS
20beta-hydroxybutyrate459.6GLUD1, INS
21glibenclamide45 29 50 6012.6KCNJ11, ABCC8, INS
22Nicotinamide-Adenine-Dinucleotide119.3GLUD1, HADH
23carnitine459.2HADH, GLUD1, INS
24metformin45 50 1111.1GCK, ABCC8, INS, KCNJ11
25potassium45 11 2411.0GCK, KCNJ11, GLUD1, ABCC8
26phosphoenolpyruvate45 1110.0HNF4A, GLUD1, GCK
27acyl-coa458.9HADH, GLUD1, HNF4A
28nadh45 11 2410.8GCK, HADH, GLUD1
29c-peptide458.7INS, HNF4A, GCK, KCNJ11
30pyruvate458.7HNF4A, GCK, GLUD1
31glycogen45 249.7HNF4A, GCK, INS, ABCC8
32adp45 29 2410.6ABCC8, GLUD1, GCK, KCNJ11
33lysine458.6HNF4A, ABCC8, GLUD1, KCNJ11
34glutamine458.6GLUD1, HNF4A, GCK, KCNJ11
35sulfonylurea458.5KCNJ11, GCK, GLUD1, INS, ABCC8
36tolbutamide45 50 29 1111.5KCNJ11, GLUD1, INS, ABCC8, GCK
37cholesterol45 29 11 2411.5ABCC8, GCK, INS, HNF4A
38glycerol45 11 2410.5GCK, GLUD1, INS, HNF4A
39dexamethasone45 50 29 1111.2HNF4A, GLUD1, INS, GCK
40atp45 299.2GLUD1, HNF4A, GCK, ABCC8, KCNJ11
41alanine458.1GLUD1, INS, HNF4A, GCK
42diazoxide45 60 29 1111.0KCNJ11, GCK, INS, ABCC8, HADH, GLUD1
43katp458.0KCNJ11, ABCC8, INS, GLUD1, HADH, GCK
44cysteine457.9HNF4A, ABCC8, GLUD1, GCK
45serine457.9HNF4A, GCK, INS, ABCC8, GLUD1
46leucine457.7ABCC8, HADH, HNF4A, GCK, KCNJ11, GLUD1
47arginine457.7KCNJ11, ABCC8, GCK, HNF4A, GLUD1, INS
48fatty acid457.6GLUD1, INS, ABCC8, GCK, HNF4A, HADH
49glutamate457.2INS, ABCC8, HADH, HNF4A, GCK, GLUD1
50glucose457.2ABCC8, INS, GLUD1, HADH, KCNJ11, HNF4A

GO Terms for genes affiliated with Familial Hyperinsulinism

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.7ABCC8, KCNJ11
2mitochondrionGO:0057398.2GLUD1, HADH, GCK, KCNJ11

Biological processes related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of gluconeogenesisGO:0457219.6INS, GCK
2positive regulation of glycolysisGO:0458219.6GCK, INS
3positive regulation of glycogen biosynthetic processGO:0457259.5GCK, INS
4glucose transportGO:0157589.5GCK, INS
5potassium ion transmembrane transportGO:0718059.4ABCC8, KCNJ11
6energy reserve metabolic processGO:0061129.3ABCC8, INS, KCNJ11
7positive regulation of insulin secretionGO:0320249.3GLUD1, GCK
8endocrine pancreas developmentGO:0310188.9GCK, HNF4A, INS
9glucose homeostasisGO:0425938.9INS, HNF4A, GCK
10regulation of insulin secretionGO:0507968.1ABCC8, KCNJ11, GCK, HNF4A, INS
11small molecule metabolic processGO:0442817.8GLUD1, INS, ABCC8, KCNJ11, HADH, GCK

Molecular functions related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.4KCNJ11, ABCC8
2NAD+ bindingGO:0704039.3GLUD1, HADH
3ADP bindingGO:0435319.3GLUD1, GCK
4ATP bindingGO:0055248.6ABCC8, GLUD1, GCK, KCNJ11

Products for genes affiliated with Familial Hyperinsulinism

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Sources for Familial Hyperinsulinism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet