FHI
MCID: FML184
MIFTS: 54

Familial Hyperinsulinism (FHI) malady

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

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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 based summary: Familial Hyperinsulinism, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia and hypoglycemia. An important gene associated with Familial Hyperinsulinism is ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8), and among its related pathways are Inwardly rectifying K+ channels and Antiarrhythmic Pathway, Pharmacodynamics. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include pancreas and brain, 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...

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Aliases & Classifications for Familial Hyperinsulinism

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Familial Hyperinsulinism, Aliases & Descriptions:

Name: Familial Hyperinsulinism 19 42 20 22
Persistent Hyperinsulinemic Hypoglycemia of Infancy 19 42 22 62
Phhi 19 42 62
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 42 62
Persistent Hyperinsulinemia Hypoglycemia of Infancy 21 62
Hyperinsulinemia Hypoglycemia of Infancy 21 62
Nesidioblastosis of Pancreas 42 62
Congenital Hyperinsulinism 42 21
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 42
Hyperinsulinemic Hypoglycemia, Familial, 2 62
 
Hypoglycemia Hyperinsulinemic of Infancy 42
Persistent Hyperinsulinemic Hypoglycemia 21
Hyperinsulinemic Hypoglycemia Familial 42
Infancy Hyperinsulinemia Hypoglycemia 21
Hyperinsulinism Congenital 42
Hyperinsulinism, Familial 62
Neonatal Hyperinsulinism 21
Phhi Hypoglycemia 21
Fhi 19


Classifications:



Related Diseases for Familial Hyperinsulinism

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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia32.1ABCC8, INS
2hypoglycemia30.6GLUD1, HNF4A, INS, KCNJ11, GCK, ABCC8
3glucose intolerance30.5INS, GCK
4hyperinsulinism29.6KCNJ11, ABCC8, GCK, INS, HNF4A, UCP2
5maturity-onset diabetes of the young29.6INS, HNF4A, GCK, KCNJ11
6insulinoma29.2GCK, ABCC8, KCNJ11, INS, HNF4A, UCP2
7hyperglycemia28.9UCP2, ABCC8, KCNJ11, INS, HNF4A, GCK
8diabetes mellitus28.9KCNJ11, UCP2, GCK, INS, HNF4A, ABCC8
9hyperinsulinemic hypoglycemia familial 310.6
10hyperinsulinemic hypoglycemia familial 210.6
11fuchs' heterochromic uveitis10.5
12exercise-induced hyperinsulinemic hypoglycemia10.5
133-hydroxyacyl-coa dehydrogenase deficiency10.4HADH
14adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.4
15hyperinsulinemic hypoglycemia, familial, 410.4
16hyperinsulinemic hypoglycemia, familial, 510.4
17neuroblastoma10.4
18somatostatin analog10.4
19west syndrome10.3
20pyloric stenosis10.3
21hepatitis10.3
22acute insulin response10.3
23beckwith-wiedemann syndrome10.2
24hypertrophic cardiomyopathy10.2
25diabetes mellitus, noninsulin-dependent10.1HNF4A, ABCC8
26thrombocytopenia10.1
27usher syndrome10.0
28pancreatitis10.0
29hyperinsulinism-hyperammonemia syndrome10.0
30usher syndrome, type 1c10.0
31hyperinsulinemic hypoglycemia, familial, 110.0
32drug-induced hepatitis10.0
33galactokinase deficiency10.0
34cholestasis10.0
35hepatoblastoma10.0
36septo-optic dysplasia10.0
37epilepsy syndrome10.0ABCC8, KCNJ11, GLUD1
38hyperuricemia10.0INS, GCK
39permanent neonatal diabetes mellitus9.9ABCC8, INS, GCK
40familial hyperlipidemia9.9UCP2, INS
41ischemia9.9GCK, GLUD1, ABCC8
42hyperammonemia multi-gene panels9.9GCK, GLUD1, KCNJ11, ABCC8
43cystic fibrosis9.9KCNJ11, ABCC8, INS
44neonatal diabetes mellitus9.8INS, GCK, KCNJ11, ABCC8
45type 1 diabetes mellitus9.7INS, HNF4A, GCK
46primary hyperoxaluria9.7UCP2, HNF4A, INS
47pancreatic cancer9.6INS, HNF4A, UCP2
48fatty liver disease9.5INS, HNF4A, UCP2, GLUD1
49galactosemia9.5UCP2, GLUD1, HNF4A, INS
50gestational diabetes9.5HNF4A, INS, KCNJ11, GCK, ABCC8

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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Drug clinical trials:

Search ClinicalTrials for Familial Hyperinsulinism

Search NIH Clinical Center for Familial Hyperinsulinism

Genetic Tests for Familial Hyperinsulinism

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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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MalaCards organs/tissues related to Familial Hyperinsulinism:

32
Pancreas, Brain

Animal Models for Familial Hyperinsulinism or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperinsulinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.2HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
2MP:00053786.7KCNJ11, INS, HNF4A, UCP2, GLUD1, GCK
3MP:00053766.3GCK, HADH, ABCC8, KCNJ11, INS, HNF4A

Publications for Familial Hyperinsulinism

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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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Clinvar genetic disease variations for Familial Hyperinsulinism:

6
id Gene Name Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs193922402GRCh37Chr 11, 17417158: 17417158
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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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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Pathways related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ABCC8, KCNJ11
29.8ABCC8, KCNJ11
39.8KCNJ11, ABCC8
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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Compounds related to Familial Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.1KCNJ11, ABCC8
2nicorandil44 2811.0KCNJ11, ABCC8
3mgadp4410.0ABCC8, KCNJ11
4cromakalim44 2810.8ABCC8, KCNJ11
5alpha-ketoisocaproate449.8GCK, GLUD1
6meglitinide449.6ABCC8, INS
7mitiglinide44 1110.6INS, ABCC8
8chromium picolinate449.5INS, GCK
9glipizide44 50 1111.5INS, ABCC8
10chlorpropamide44 50 1111.4ABCC8, INS
11repaglinide50 44 1111.3INS, KCNJ11, ABCC8
12gliclazide44 50 1111.3INS, KCNJ11, ABCC8
13glimepiride44 50 1111.3ABCC8, KCNJ11, INS
14glibenclamide44 28 50 6112.3INS, KCNJ11, ABCC8
15phosphoenolpyruvate44 1110.2HNF4A, GLUD1, GCK
16i-app449.2GCK, INS
17incretin449.2GCK, INS
18preproinsulin449.1INS, UCP2, GCK
19streptozotocin449.0GCK, UCP2, INS
20gtp44 289.9ABCC8, UCP2, GLUD1, GCK
21metformin44 50 1110.9ABCC8, KCNJ11, INS, GCK
22bezafibrate44 28 1110.9INS, HNF4A, UCP2
23lysine448.9ABCC8, KCNJ11, HNF4A, GLUD1
24acyl-coa448.8GLUD1, UCP2, HNF4A, HADH
25pyruvate448.7HNF4A, UCP2, GLUD1, GCK
26palmitate448.7UCP2, HNF4A, INS
27potassium44 24 1110.7ABCC8, KCNJ11, UCP2, GLUD1, GCK
28c-peptide448.6KCNJ11, INS, HNF4A, GCK
29hydrogen44 249.6HNF4A, UCP2, GLUD1, GCK
30carnitine448.6GLUD1, UCP2, INS, HADH
31adp44 28 2410.6ABCC8, KCNJ11, UCP2, GLUD1, GCK
32carbohydrates448.6INS, UCP2, GCK
33sterol448.6GCK, UCP2, HNF4A
34glycerol44 24 1110.4GCK, GLUD1, HNF4A, INS
35sulfonylurea448.4ABCC8, KCNJ11, INS, GLUD1, GCK
36tolbutamide44 28 50 1111.4ABCC8, KCNJ11, INS, GLUD1, GCK
37lactate448.4GCK, GLUD1, UCP2, INS
38glutamine448.4KCNJ11, HNF4A, UCP2, GLUD1, GCK
39leucine448.2HADH, ABCC8, KCNJ11, HNF4A, GLUD1, GCK
40glycogen44 249.1ABCC8, INS, HNF4A, UCP2, GCK
41cholesterol44 28 24 1111.1ABCC8, INS, HNF4A, UCP2, GCK
42atp44 289.0ABCC8, KCNJ11, HNF4A, UCP2, GLUD1, GCK
43katp448.0GCK, HADH, ABCC8, KCNJ11, INS, GLUD1
44diazoxide44 61 28 1111.0HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
45alanine447.9INS, HNF4A, UCP2, GLUD1, GCK
46lipid447.9ABCC8, INS, HNF4A, UCP2, GCK
47arginine447.8ABCC8, KCNJ11, INS, HNF4A, GLUD1, GCK
48glutamate447.4HADH, ABCC8, KCNJ11, INS, HNF4A, GLUD1
49fatty acid447.2HADH, ABCC8, INS, HNF4A, UCP2, GLUD1
50glucose446.8HADH, ABCC8, KCNJ11, INS, HNF4A, UCP2

GO Terms for genes affiliated with Familial Hyperinsulinism

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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
2potassium ion transmembrane transportGO:0718059.7KCNJ11, ABCC8
3cellular response to glucose stimulusGO:0713339.6KCNJ11, UCP2
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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet