FHI
MCID: FML184
MIFTS: 51

Familial Hyperinsulinism (FHI) malady

Endocrine diseases, Genetic diseases categories

Summaries for Familial Hyperinsulinism

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 hyperinsulinemic hypoglycemia of infancy, is related to hypoglycemia and hyperinsulinism. An important gene associated with Familial Hyperinsulinism is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are ATP sensitive Potassium channels and Inwardly rectifying K+ channels. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreatic islet and pancreas, and related mouse phenotypes are endocrine/exocrine gland and growth/size.

Genetics Home Reference:21 Congenital 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, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.

Wikipedia:63 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

About this section
Sources:
21Genetics Home Reference, 60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR
See all sources

Classifications:

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


Aliases & Descriptions:

familial hyperinsulinism 19 42 20 22
persistent hyperinsulinemic hypoglycemia of infancy 19 22
persistent hyperinsulinemia hypoglycemia of infancy 21 60
congenital hyperinsulinism 42 21
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia 42
hyperinsulinism familial with pancreatic nesidioblastosis 42
hyperinsulinemic hypoglycemia, familial, 2 60
hyperinsulinemia hypoglycemia of infancy 21
persistent hyperinsulinemic hypoglycemia 21
hyperinsulinemic hypoglycemia familial 42
infancy hyperinsulinemia hypoglycemia 21
hyperinsulinism congenital 42
hyperinsulinism, familial 60
neonatal hyperinsulinism 21
phhi hypoglycemia 21
phhi 19
fhi 19


Related Diseases for Familial Hyperinsulinism

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Hyperinsulinism family:

Hyperinsulinism Abcc8-Related Hyperinsulinism
Kcnj11-Related Hyperinsulinism Gck-Related Hyperinsulinism
Glud1-Related Hyperinsulinism Hadh-Related Hyperinsulinism
Hnf4a-Related Hyperinsulinism

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.8KCNJ11, GCK, HNF4A, HADH, GLUD1, INS
2hyperinsulinism30.9KCNJ11, GCK, HNF4A, GLUD1, INS, ABCC8
3hyperinsulinism-hyperammonemia syndrome30.5GLUD1
4glucose intolerance30.5GCK, INS
5hyperinsulinemic hypoglycemia30.5INS, ABCC8
6insulinoma30.5KCNJ11, GCK, HNF4A, GLUD1, INS, ABCC8
7diabetes mellitus30.1KCNJ11, GCK, HNF4A, INS, ABCC8
8maturity-onset diabetes of the young30.0INS, HNF4A, GCK, KCNJ11
9pancreatitis30.0INS
10beckwith-wiedemann syndrome29.9ABCC8
11neonatal diabetes mellitus29.9KCNJ11, GCK, INS, ABCC8
12hyperglycemia29.9KCNJ11, GCK, HNF4A, INS, ABCC8
13hyperinsulinemic hypoglycemia familial 310.6
14hyperinsulinemic hypoglycemia familial 210.5
15exercise-induced hyperinsulinemic hypoglycemia10.4
16adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.4
17hyperinsulinemic hypoglycemia, familial, 410.4
18hyperinsulinemic hypoglycemia, familial, 510.4
19neuroblastoma10.4
20fuchs' heterochromic uveitis10.3
21west syndrome10.2
22pyloric stenosis10.2
23glud1-related hyperinsulinism10.2
24hypertrophic cardiomyopathy10.1
25hepatitis10.1
26thrombocytopenia10.0
27retinal vasculitis10.0
28usher syndrome10.0
29hyperinsulinemic hypoglycemia, familial, 110.0
30galactokinase deficiency10.0
31acute pancreatitis10.0
32retinitis pigmentosa10.0
33drug-induced hepatitis10.0
34hepatoblastoma10.0
35retinitis10.0
363-hydroxyacyl-coa dehydrogenase deficiency10.0HADH
37liver cirrhosis10.0GCK
38pituitary adenoma10.0ABCC8
39diarrhea10.0INS
40diabetic ketoacidosis10.0INS
41essential hypertension10.0INS
42hyperuricemia10.0INS, GCK
43diabetes mellitus, noninsulin-dependent10.0HNF4A, ABCC8
44permanent neonatal diabetes mellitus10.0GCK, INS, ABCC8
45ischemia10.0GCK, GLUD1, ABCC8
46epilepsy syndrome10.0ABCC8, GLUD1, KCNJ11
47adenoma10.0INS, HNF4A
48hyperammonemia multi-gene panels10.0KCNJ11, GCK, GLUD1, ABCC8
49type 1 diabetes10.0INS, HNF4A, GCK
50fatty liver disease10.0INS, GLUD1, HNF4A

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



Diseases related to familial hyperinsulinism

Clinical Features for Familial Hyperinsulinism

About this section

Drugs & Therapeutics for Familial Hyperinsulinism

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Familial Hyperinsulinism:

32
Brain, Pancreatic islet, Pancreas

Animal Models for Familial Hyperinsulinism or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Familial Hyperinsulinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.5ABCC8, INS, GLUD1, HADH, GCK, KCNJ11
2MP:00053787.2INS, GLUD1, HADH, HNF4A, GCK, KCNJ11
3MP:00053766.4KCNJ11, GCK, HNF4A, HADH, GLUD1, INS

Publications for Familial Hyperinsulinism

About this section
Sources:
50PubMed
See all sources

Articles related to Familial Hyperinsulinism:

(show all 30)
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
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism. (17384337)
2007
6
Family with autosomal dominant hyperinsulinism associated with A456V mutation in the glucokinase gene. (14687251)
2004
7
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. (11867634)
2002
8
Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. (11457841)
2001
9
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. (10720932)
2000
10
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. (10447255)
1999
11
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. (9469993)
1998
12
Familial hyperinsulinism caused by an activating glucokinase mutation. (9435328)
1998
13
Genetic heterogeneity in familial hyperinsulinism. (9618169)
1998
14
Clinical and molecular heterogeneity of familial hyperinsulinism. (9843361)
1998
15
Effect of glucagon on glucose production, lipolysis, and gluconeogenesis in familial hyperinsulinism. (9701703)
1998
16
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. (9356020)
1997
17
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. (8923011)
1996
18
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996
19
Familial hyperinsulinism]. (7637980)
1995
20
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
21
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. (7920639)
1994
22
Familial Hyperinsulinism (20301549)
1993
23
Familial hyperinsulinism presenting in adults. (1358043)
1992
24
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. (1421899)
1992
25
Familial hyperinsulinism: successful conservative management. (1941376)
1991
26
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. (1941377)
1991
27
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. (2624273)
1989
28
Immunohistochemical, morphometric, and clinical studies of the pancreatic islets in infants with persistent neonatal hypoglycemia of familial type with hyperinsulinism and nesidioblastosis. (6114606)
1981
29
A familial form of obesity without hyperinsulinism at the outset. (7014300)
1981
30
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

About this section

Expression for genes affiliated with Familial Hyperinsulinism

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 49PharmGKB, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Familial Hyperinsulinism

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB
See all sources

Compounds related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1minoxidil44 28 1112.3ABCC8
2cibenzoline4410.1KCNJ11, ABCC8
3nicorandil44 2811.1ABCC8, KCNJ11
4mgadp4410.0KCNJ11, ABCC8
5cromakalim44 2811.0KCNJ11, ABCC8
6meglitinide449.9INS, ABCC8
7mitiglinide44 1110.9ABCC8, INS
8chromium picolinate449.9GCK, INS
9glipizide44 1110.9ABCC8, INS
10chlorpropamide44 1110.9INS, ABCC8
11preproinsulin449.8GCK, INS
12Glyburide119.8ABCC8, KCNJ11
13i-app449.8GCK, INS
14alpha-ketoisocaproate449.8GCK, GLUD1
15incretin449.8GCK, INS
16nateglinide44 49 1111.7INS, ABCC8
17repaglinide44 49 1111.6ABCC8, KCNJ11, INS
18glimepiride44 49 1111.6KCNJ11, ABCC8, INS
19gliclazide44 49 1111.6ABCC8, KCNJ11, INS
20beta-hydroxybutyrate449.6GLUD1, INS
21glibenclamide44 28 49 5912.6KCNJ11, ABCC8, INS
22Nicotinamide-Adenine-Dinucleotide119.3GLUD1, HADH
23carnitine449.2HADH, GLUD1, INS
24metformin44 49 1111.1GCK, ABCC8, INS, KCNJ11
25potassium44 11 2411.0GCK, KCNJ11, GLUD1, ABCC8
26phosphoenolpyruvate44 1110.0HNF4A, GLUD1, GCK
27acyl-coa448.9HADH, GLUD1, HNF4A
28nadh44 11 2410.8GCK, HADH, GLUD1
29c-peptide448.7INS, HNF4A, GCK, KCNJ11
30pyruvate448.7HNF4A, GCK, GLUD1
31glycogen44 249.7HNF4A, GCK, INS, ABCC8
32adp44 28 2410.6ABCC8, GLUD1, GCK, KCNJ11
33lysine448.6HNF4A, ABCC8, GLUD1, KCNJ11
34glutamine448.6GLUD1, HNF4A, GCK, KCNJ11
35sulfonylurea448.5KCNJ11, GCK, GLUD1, INS, ABCC8
36tolbutamide44 49 28 1111.5KCNJ11, GLUD1, INS, ABCC8, GCK
37cholesterol44 28 11 2411.5ABCC8, GCK, INS, HNF4A
38glycerol44 11 2410.5GCK, GLUD1, INS, HNF4A
39dexamethasone44 49 28 1111.2HNF4A, GLUD1, INS, GCK
40atp44 289.2GLUD1, HNF4A, GCK, ABCC8, KCNJ11
41alanine448.1GLUD1, INS, HNF4A, GCK
42diazoxide44 59 28 1111.0KCNJ11, GCK, INS, ABCC8, HADH, GLUD1
43katp448.0KCNJ11, ABCC8, INS, GLUD1, HADH, GCK
44cysteine447.9HNF4A, ABCC8, GLUD1, GCK
45serine447.9HNF4A, GCK, INS, ABCC8, GLUD1
46leucine447.7ABCC8, HADH, HNF4A, GCK, KCNJ11, GLUD1
47arginine447.7KCNJ11, ABCC8, GCK, HNF4A, GLUD1, INS
48fatty acid447.6GLUD1, INS, ABCC8, GCK, HNF4A, HADH
49glutamate447.2INS, ABCC8, HADH, HNF4A, GCK, GLUD1
50glucose447.2ABCC8, INS, GLUD1, HADH, KCNJ11, HNF4A

GO Terms for genes affiliated with Familial Hyperinsulinism

About this section
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:0458219.6INS, GCK
3positive regulation of glycogen biosynthetic processGO:0457259.5GCK, INS
4glucose transportGO:0157589.5INS, GCK
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:0310188.9INS, HNF4A, GCK
9glucose homeostasisGO:0425938.9GCK, HNF4A, INS
10regulation of insulin secretionGO:0507968.1ABCC8, INS, HNF4A, GCK, KCNJ11
11small molecule metabolic processGO:0442817.8KCNJ11, GCK, HADH, GLUD1, INS, ABCC8

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hyperinsulinism

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet