FHI
MCID: FML184
MIFTS: 51

Familial Hyperinsulinism (FHI) malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Familial Hyperinsulinism

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 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 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 Development Leptin signaling via PI3K dependent pathway and Inwardly rectifying K+ channels. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are endocrine/exocrine gland and growth/size/body.

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:65 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

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21Genetics Home Reference, 62UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

familial hyperinsulinism 19 43 20 22
persistent hyperinsulinemic hypoglycemia of infancy 19 43 22
persistent hyperinsulinemia hypoglycemia of infancy 21 62
congenital hyperinsulinism 43 21
phhi 19 43
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia 43
hyperinsulinism familial with pancreatic nesidioblastosis 43
hyperinsulinemic hypoglycemia, familial, 2 62
persistent hyperinsulinemic hypoglycemia 21
hyperinsulinemia hypoglycemia of infancy 21
hypoglycemia hyperinsulinemic of infancy 43
hyperinsulinemic hypoglycemia familial 43
infancy hyperinsulinemia hypoglycemia 21
nesidioblastosis of pancreas 43
hyperinsulinism congenital 43
hyperinsulinism, familial 62
neonatal hyperinsulinism 21
phhi hypoglycemia 21
fhi 19


Related Diseases for Familial Hyperinsulinism

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17GeneCards, 18GeneDecks
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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.6HNF4A, GLUD1, GCK, INS, KCNJ11, HADH
2hyperinsulinism30.7ABCC8, KCNJ11, INS, HNF4A, UCP2, GLUD1
3hyperinsulinemic hypoglycemia30.6ABCC8, INS
4glucose intolerance30.6GCK, INS
5insulinoma30.2GLUD1, UCP2, HNF4A, INS, KCNJ11, ABCC8
6diabetes mellitus30.0ABCC8, KCNJ11, INS, HNF4A, UCP2, GCK
7maturity-onset diabetes of the young30.0GCK, HNF4A, INS, KCNJ11
8neonatal diabetes mellitus29.9ABCC8, KCNJ11, INS, GCK
9hyperglycemia29.8ABCC8, KCNJ11, INS, HNF4A, UCP2, GCK
10hyperinsulinemic hypoglycemia familial 310.6
11hyperinsulinemic hypoglycemia familial 210.5
12exercise-induced hyperinsulinemic hypoglycemia10.5
13adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.4
14neuroblastoma10.4
15somatostatin analog10.4
16hyperinsulinemic hypoglycemia, familial, 410.4
17hyperinsulinemic hypoglycemia, familial, 510.4
18fuchs' heterochromic uveitis10.3
19west syndrome10.3
20pyloric stenosis10.3
21acute insulin response10.3
22glud1-related hyperinsulinism10.2
23hypertrophic cardiomyopathy10.2
24hepatitis10.2
253-hydroxyacyl-coa dehydrogenase deficiency10.1HADH
26thrombocytopenia10.1
27usher syndrome10.0
28pancreatitis10.0
29hyperinsulinism-hyperammonemia syndrome10.0
30usher syndrome, type 1c10.0
31hyperinsulinemic hypoglycemia, familial, 110.0
32diabetes mellitus, noninsulin-dependent10.0HNF4A, ABCC8
33retinitis pigmentosa10.0
34beckwith-wiedemann syndrome10.0
35drug-induced hepatitis10.0
36galactokinase deficiency10.0
37hepatoblastoma10.0
38retinitis10.0
39septo-optic dysplasia10.0
40epilepsy syndrome10.0GLUD1, KCNJ11, ABCC8
41hyperuricemia10.0GCK, INS
42permanent neonatal diabetes mellitus10.0ABCC8, INS, GCK
43familial hyperlipidemia10.0UCP2, INS
44ischemia10.0ABCC8, GLUD1, GCK
45hyperammonemia multi-gene panels10.0ABCC8, KCNJ11, GLUD1, GCK
46cystic fibrosis10.0ABCC8, KCNJ11, INS
47type 1 diabetes mellitus9.9GCK, HNF4A, INS
48primary hyperoxaluria9.9INS, HNF4A, UCP2
49pancreatic cancer9.9UCP2, HNF4A, INS
50fatty liver disease9.9GLUD1, UCP2, HNF4A, INS

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



Diseases related to familial hyperinsulinism

Symptoms for Familial Hyperinsulinism

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Drugs & Therapeutics for Familial Hyperinsulinism

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Hyperinsulinism

Search NIH Clinical Center for Familial Hyperinsulinism

Genetic Tests for Familial Hyperinsulinism

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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

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33MalaCards
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MalaCards organs/tissues related to Familial Hyperinsulinism:

33
Pancreas

Animal Models for Familial Hyperinsulinism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Hyperinsulinism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.2HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
2MP:00053786.8KCNJ11, INS, HNF4A, UCP2, GLUD1, GCK
3MP:00053766.3GCK, HADH, ABCC8, KCNJ11, INS, HNF4A

Publications for Familial Hyperinsulinism

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52PubMed
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Articles related to Familial Hyperinsulinism:

(show all 20)
idTitleAuthorsYear
1
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report. (21073125)
2010
2
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. (11867634)
2002
3
Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. (11457841)
2001
4
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. (10720932)
2000
5
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. (10447255)
1999
6
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. (9469993)
1998
7
Familial hyperinsulinism caused by an activating glucokinase mutation. (9435328)
1998
8
Genetic heterogeneity in familial hyperinsulinism. (9618169)
1998
9
Clinical and molecular heterogeneity of familial hyperinsulinism. (9843361)
1998
10
Effect of glucagon on glucose production, lipolysis, and gluconeogenesis in familial hyperinsulinism. (9701703)
1998
11
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. (9356020)
1997
12
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. (8923011)
1996
13
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996
14
Familial hyperinsulinism]. (7637980)
1995
15
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
16
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. (7920639)
1994
17
Familial Hyperinsulinism (20301549)
1993
18
Familial hyperinsulinism presenting in adults. (1358043)
1992
19
Familial hyperinsulinism: successful conservative management. (1941376)
1991
20
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. (2624273)
1989

Variations for Familial Hyperinsulinism

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Hyperinsulinism:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val)single nucleotide variantPathogenicrs72559723GRCh37Chr 11, 17448671: 17448671
2ABCC8NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln)single nucleotide variantPathogenicrs387906407GRCh37Chr 11, 17417157: 17417157
3ABCC8ABCC8: c.3989-9G> Asingle nucleotide variantPathogenicrs151344623GRCh37Chr 11, 17418602: 17418602
4ABCC8NM_001287174.1(ABCC8): c.4162_4164delTTC (p.Phe1388del)deletionPathogenicrs151344624GRCh37Chr 11, 17417436: 17417438
5ABCC8NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro)single nucleotide variantPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527
6ABCC8NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys)single nucleotide variantPathogenicrs28938469GRCh37Chr 11, 17417206: 17417206
7ABCC8NM_001287174.1(ABCC8): c.4480C> T (p.Arg1494Trp)single nucleotide variantPathogenicrs28936371GRCh37Chr 11, 17415881: 17415881
8ABCC8NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys)single nucleotide variantPathogenicrs137852671GRCh37Chr 11, 17415842: 17415842
9ABCC8NM_001287174.1(ABCC8): c.560T> A (p.Val187Asp)single nucleotide variantPathogenicrs137852672GRCh37Chr 11, 17485004: 17485004
10ABCC8NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del)deletionPathogenicrs387906408GRCh37Chr 11, 17417439: 17417441

Expression for genes affiliated with Familial Hyperinsulinism

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2BioGPS, 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

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50PathCards, 60Thomson Reuters, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore, 53QIAGEN, 30KEGG, 5Cell Signaling Technology
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Pathways related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNJ11, ABCC8
2
Show member pathways
9.8ABCC8, KCNJ11
39.8ABCC8, KCNJ11
49.4GCK, HNF4A
59.1UCP2, INS
6
Show member pathways
8.9ABCC8, KCNJ11, INS
7
Show member pathways
8.6GCK, HNF4A, INS
8
Show member pathways
8.6GCK, HNF4A, INS
9
Show member pathways
8.6INS, HNF4A, GCK
108.5GLUD1, HNF4A, INS
11
Show member pathways
8.5GCK, INS, KCNJ11, ABCC8
12
Show member pathways
7.9ABCC8, KCNJ11, INS, HNF4A, GCK
13
Show member pathways
7.0HADH, ABCC8, KCNJ11, INS, UCP2, GLUD1
146.9GCK, UCP2, HNF4A, INS, KCNJ11, ABCC8

Compounds for genes affiliated with Familial Hyperinsulinism

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1cibenzoline4510.1KCNJ11, ABCC8
2nicorandil45 2911.0KCNJ11, ABCC8
3mgadp4510.0ABCC8, KCNJ11
4cromakalim45 2910.8ABCC8, KCNJ11
5alpha-ketoisocaproate459.8GCK, GLUD1
6meglitinide459.6ABCC8, INS
7mitiglinide45 1110.6INS, ABCC8
8chromium picolinate459.5INS, GCK
9glipizide45 51 1111.4INS, ABCC8
10chlorpropamide45 51 1111.4ABCC8, INS
11repaglinide51 45 1111.3INS, KCNJ11, ABCC8
12gliclazide45 51 1111.3INS, KCNJ11, ABCC8
13glimepiride45 51 1111.3ABCC8, KCNJ11, INS
14glibenclamide45 29 51 6112.3INS, KCNJ11, ABCC8
15phosphoenolpyruvate45 1110.2HNF4A, GLUD1, GCK
16i-app459.2GCK, INS
17incretin459.2GCK, INS
18preproinsulin459.1INS, UCP2, GCK
19streptozotocin459.0GCK, UCP2, INS
20metformin45 51 1110.9ABCC8, KCNJ11, INS, GCK
21gtp45 299.9ABCC8, UCP2, GLUD1, GCK
22bezafibrate45 29 1110.9INS, HNF4A, UCP2
23lysine458.9ABCC8, KCNJ11, HNF4A, GLUD1
24acyl-coa458.8GLUD1, UCP2, HNF4A, HADH
25pyruvate458.7HNF4A, UCP2, GLUD1, GCK
26palmitate458.7UCP2, HNF4A, INS
27potassium45 24 1110.7ABCC8, KCNJ11, UCP2, GLUD1, GCK
28c-peptide458.7KCNJ11, INS, HNF4A, GCK
29hydrogen45 249.6HNF4A, UCP2, GLUD1, GCK
30carnitine458.6GLUD1, UCP2, INS, HADH
31adp45 29 2410.6ABCC8, KCNJ11, UCP2, GLUD1, GCK
32carbohydrates458.6INS, UCP2, GCK
33sterol458.6GCK, UCP2, HNF4A
34glycerol45 24 1110.4GCK, GLUD1, HNF4A, INS
35glutamine458.4KCNJ11, HNF4A, UCP2, GLUD1, GCK
36sulfonylurea458.4ABCC8, KCNJ11, INS, GLUD1, GCK
37tolbutamide45 29 51 1111.4ABCC8, KCNJ11, INS, GLUD1, GCK
38lactate458.4GCK, GLUD1, UCP2, INS
39leucine458.2HADH, ABCC8, KCNJ11, HNF4A, GLUD1, GCK
40glycogen45 249.1ABCC8, INS, HNF4A, UCP2, GCK
41cholesterol45 29 24 1111.1ABCC8, INS, HNF4A, UCP2, GCK
42atp45 299.0ABCC8, KCNJ11, HNF4A, UCP2, GLUD1, GCK
43katp458.0GCK, HADH, ABCC8, KCNJ11, INS, GLUD1
44diazoxide45 61 29 1111.0HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
45alanine457.9INS, HNF4A, UCP2, GLUD1, GCK
46lipid457.9ABCC8, INS, HNF4A, UCP2, GCK
47arginine457.8ABCC8, KCNJ11, INS, HNF4A, GLUD1, GCK
48glutamate457.4HADH, ABCC8, KCNJ11, INS, HNF4A, GLUD1
49fatty acid457.2HADH, ABCC8, INS, HNF4A, UCP2, GLUD1
50glucose456.8HADH, ABCC8, KCNJ11, INS, HNF4A, UCP2

GO Terms for genes affiliated with Familial Hyperinsulinism

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16Gene Ontology
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Cellular components related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.8KCNJ11, ABCC8
2mitochondrionGO:0057398.4GCK, GLUD1, KCNJ11, HADH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:0466769.8KCNJ11, HADH
2cellular response to glucose stimulusGO:0713339.7KCNJ11, UCP2
3potassium ion transmembrane transportGO:0718059.7KCNJ11, ABCC8
4positive regulation of insulin secretionGO:0320249.5GCK, GLUD1
5negative regulation of gluconeogenesisGO:0457219.4GCK, INS
6positive regulation of glycolytic processGO:0458219.4GCK, INS
7positive regulation of glycogen biosynthetic processGO:0457259.3INS, GCK
8glucose transportGO:0157589.2GCK, INS
9cellular response to insulin stimulusGO:0328699.2GCK, UCP2
10energy reserve metabolic processGO:0061129.2ABCC8, KCNJ11, INS
11endocrine pancreas developmentGO:0310188.8INS, HNF4A, GCK
12glucose homeostasisGO:0425938.8GCK, HNF4A, INS
13regulation of insulin secretionGO:0507968.1GCK, HNF4A, INS, KCNJ11, ABCC8
14small molecule metabolic processGO:0442817.3HADH, ABCC8, KCNJ11, INS, UCP2, GLUD1

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.8KCNJ11, ABCC8
2NAD+ bindingGO:0704039.5GLUD1, HADH
3ADP bindingGO:0435319.4GCK, GLUD1
4ATP bindingGO:0055248.5ABCC8, KCNJ11, GLUD1, GCK

Products for genes affiliated with Familial Hyperinsulinism

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Sources for Familial Hyperinsulinism

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet