MCID: HYP604
MIFTS: 42

Hyperinsulinemic Hypoglycemia, Familial, 2 malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

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NIH Rare Diseases:41 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: Hyperinsulinemic Hypoglycemia, Familial, 2, also known as familial hyperinsulinism, is related to hypoglycemia and hyperinsulinism, and has symptoms including hyperinsulinemia, abnormality of the pancreas and hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Potassium Channels and Insulin secretion. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and pancreatic islet.

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.

Description from OMIM:45 601820

GeneReviews summary for hi

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

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Hyperinsulinemic Hypoglycemia, Familial, 2, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 45 10 60
Familial Hyperinsulinism 19 41 20 22
Persistent Hyperinsulinemic Hypoglycemia of Infancy 19 41 22
Congenital Hyperinsulinism 41 21
Phhi 19 41
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 41
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 41
Persistent Hyperinsulinemia Hypoglycemia of Infancy 21
Hyperinsulinemic Hypoglycemia, Familial, 1 60
Persistent Hyperinsulinemic Hypoglycemia 21
Hypoglycemia Hyperinsulinemic of Infancy 41
Hyperinsulinemia Hypoglycemia of Infancy 21
Hyperinsulinemic Hypoglycemia Familial 2 41
 
Hyperinsulinemic Hypoglycemia Familial 41
Infancy Hyperinsulinemia Hypoglycemia 21
Congenital Isolated Hyperinsulinism 41
Nesidioblastosis of Pancreas 41
Hyperinsulinism Congenital 41
Hyperinsulinism, Familial 60
Neonatal Hyperinsulinism 21
Phhi Hypoglycemia 21
Nesidioblastosis 60
Hhf2 41
Fhi 19
Chi 41


Classifications:

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


External Ids:

OMIM45 601820

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 7 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 1
hyperinsulinemic hypoglycemia, familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 5

Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.9ABCC8, KCNJ11
2hyperinsulinism31.0KCNJ11, ABCC8
3hyperinsulinemic hypoglycemia30.6ABCC8, KCNJ11
4glucose intolerance30.6KCNJ11, ABCC8
5insulinoma30.5ABCC8, KCNJ11
6neonatal diabetes mellitus30.0ABCC8, KCNJ11
7hyperglycemia29.9ABCC8, KCNJ11
8hyperinsulinemic hypoglycemia, familial, 310.7
9hyperinsulinemic hypoglycemia, familial, 710.6
10hyperinsulinemic hypoglycemia, familial, 410.6
11hyperinsulinemic hypoglycemia, familial, 510.6
12adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.5
13fuchs' heterochromic uveitis10.5
14neuroblastoma10.4
15west syndrome10.3
16pyloric stenosis10.3
17acute insulin response10.3
18hypertrophic cardiomyopathy10.3
19exercise-induced hyperinsulinism10.3
20beckwith-wiedemann syndrome10.2
21hepatitis10.1
22thrombocytopenia10.1
23maturity-onset diabetes of the young10.1
24hyperinsulinemic hypoglycemia, familial, 110.0
25hyperinsulinism-hyperammonemia syndrome10.0
26usher syndrome, type 1c10.0
27usher syndrome10.0
28pancreatitis10.0
29costello syndrome10.0
30insulin-like growth factor i10.0
31drug-induced hepatitis10.0
32retinitis pigmentosa10.0
33cholestasis10.0
34hepatoblastoma10.0
35retinitis10.0
36diabetes mellitus, permanent neonatal10.0ABCC8, KCNJ11
37hyperammonemia multi-gene panels10.0KCNJ11, ABCC8
38mody, type ii10.0KCNJ11, ABCC8
39rheumatoid arthritis10.0
40colorectal cancer10.0
41pancreatic cancer10.0
42hiv-110.0
43ovarian cancer, somatic10.0
44arthritis10.0
45cataract10.0
46hepatitis b10.0
47osteoarthritis10.0
48severe acute respiratory syndrome10.0
49amebiasis10.0
50acquired immunodeficiency syndrome10.0

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2:



Diseases related to hyperinsulinemic hypoglycemia, familial, 2

Symptoms for Hyperinsulinemic Hypoglycemia, Familial, 2

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Symptoms by clinical synopsis from OMIM:

601820

Clinical features from OMIM:

601820

HPO human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show all 8)
id Description Frequency HPO Source Accession
1 hyperinsulinemia hallmark (90%) HP:0000842
2 abnormality of the pancreas hallmark (90%) HP:0001732
3 hypoglycemia hallmark (90%) HP:0001943
4 autosomal recessive inheritance HP:0000007
5 hyperinsulinemic hypoglycemia HP:0000825
6 large for gestational age HP:0001520
7 hypoglycemia HP:0001943
8 pancreatic islet-cell hyperplasia HP:0004510

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 2

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Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia, Familial, 2

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

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Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

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 Hyperinsulinemic Hypoglycemia, Familial, 2

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 2:

31
Pancreas, Brain, Pancreatic islet

Animal Models for Hyperinsulinemic Hypoglycemia, Familial, 2 or affiliated genes

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Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

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Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1KCNJ11p.Leu147ProVAR_001557rs28936678
2KCNJ11p.Lys67AsnVAR_026506
3KCNJ11p.Trp91ArgVAR_026507
4KCNJ11p.Pro254LeuVAR_026513
5KCNJ11p.Arg34HisVAR_031329
6KCNJ11p.Gly40AspVAR_031330
7KCNJ11p.Phe55LeuVAR_031335
8KCNJ11p.Ala101AspVAR_031336
9KCNJ11p.Ser116ProVAR_031337
10KCNJ11p.Gly134AlaVAR_031338
11KCNJ11p.Arg136LeuVAR_031339
12KCNJ11p.His259ArgVAR_031345
13KCNJ11p.Pro266LeuVAR_031346
14KCNJ11p.Arg301HisVAR_031347

Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs193922402GRCh37Chr 11, 17417158: 17417158
2KCNJ11NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro)single nucleotide variantPathogenicrs28936678GRCh37Chr 11, 17409199: 17409199
3KCNJ11NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter)single nucleotide variantPathogenicrs104894236GRCh37Chr 11, 17409603: 17409603
4KCNJ11NM_000525.3(KCNJ11): c.-134G> Tsingle nucleotide variantPathogenicrs387906398GRCh37Chr 11, 17409772: 17409772
5KCNJ11NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu)single nucleotide variantPathogenicrs104894237GRCh37Chr 11, 17408878: 17408878
6KCNJ11NM_000525.3(KCNJ11): c.776A> G (p.His259Arg)single nucleotide variantPathogenicrs104894248GRCh37Chr 11, 17408863: 17408863
7KCNJ11NM_000525.3(KCNJ11): c.902G> A (p.Arg301His)single nucleotide variantPathogenicrs74339576GRCh37Chr 11, 17408737: 17408737
8KCNJ11KCNJ11, GLY156ARGundetermined variantPathogenic
9KCNJ11NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys)single nucleotide variantPathogenicrs267607196GRCh37Chr 11, 17408795: 17408795
10ABCC8NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln)single nucleotide variantPathogenicrs387906407GRCh37Chr 11, 17417157: 17417157
11ABCC8ABCC8: c.3989-9G> Asingle nucleotide variantPathogenicrs151344623GRCh37Chr 11, 17418602: 17418602
12ABCC8NM_001287174.1(ABCC8): c.4162_4164delTTC (p.Phe1388del)deletionPathogenicrs151344624GRCh37Chr 11, 17417436: 17417438
13ABCC8NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro)single nucleotide variantPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527
14ABCC8NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys)single nucleotide variantPathogenicrs28938469GRCh37Chr 11, 17417206: 17417206
15ABCC8NM_001287174.1(ABCC8): c.4480C> T (p.Arg1494Trp)single nucleotide variantPathogenicrs28936371GRCh37Chr 11, 17415881: 17415881
16ABCC8NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys)single nucleotide variantPathogenicrs137852671GRCh37Chr 11, 17415842: 17415842
17ABCC8NM_001287174.1(ABCC8): c.560T> A (p.Val187Asp)single nucleotide variantPathogenicrs137852672GRCh37Chr 11, 17485004: 17485004
18ABCC8NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del)deletionPathogenicrs387906408GRCh37Chr 11, 17417439: 17417441

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 2

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Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 2.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 2

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Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1KCNJ11, ABCC8
2
Show member pathways
9.1KCNJ11, ABCC8
3
Show member pathways
9.1KCNJ11, ABCC8
4
Show member pathways
9.1ABCC8, KCNJ11
5
Show member pathways
9.1ABCC8, KCNJ11
69.1KCNJ11, ABCC8
79.1ABCC8, KCNJ11
89.1KCNJ11, ABCC8
9
Show member pathways
9.1KCNJ11, ABCC8

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 2

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Compounds related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1cibenzoline439.5KCNJ11, ABCC8
2nicorandil43 2810.5KCNJ11, ABCC8
3mgadp439.5KCNJ11, ABCC8
4cromakalim43 2810.5ABCC8, KCNJ11
5minoxidil43 28 1211.5KCNJ11, ABCC8
6repaglinide49 43 1211.5KCNJ11, ABCC8
7gliclazide43 49 1211.5ABCC8, KCNJ11
8glimepiride43 49 1211.5KCNJ11, ABCC8
9sulfonylurea439.5KCNJ11, ABCC8
10katp439.4KCNJ11, ABCC8
11diazoxide43 59 28 1212.4ABCC8, KCNJ11
12tolbutamide43 28 49 1212.4KCNJ11, ABCC8
13glibenclamide43 28 49 5912.4KCNJ11, ABCC8
14metformin43 49 1211.4ABCC8, KCNJ11
15pip2439.4KCNJ11, ABCC8
16potassium43 24 1211.4KCNJ11, ABCC8
17lysine439.4ABCC8, KCNJ11
18leucine439.3KCNJ11, ABCC8
19aspartate439.3KCNJ11, ABCC8
20magnesium43 24 1211.3ABCC8, KCNJ11
21arginine439.2KCNJ11, ABCC8
22glutamate439.2KCNJ11, ABCC8
23adp43 28 2411.1ABCC8, KCNJ11
24glucose439.1KCNJ11, ABCC8
25Adenosine triphosphate24 1210.0KCNJ11, ABCC8
26atp43 289.8KCNJ11, ABCC8

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 2

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Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.1KCNJ11, ABCC8

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:00718059.1KCNJ11, ABCC8
2synaptic transmissionGO:00072689.1KCNJ11, ABCC8
3regulation of insulin secretionGO:00507969.0KCNJ11, ABCC8
4energy reserve metabolic processGO:00061128.8KCNJ11, ABCC8

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.1KCNJ11, ABCC8

Products for genes affiliated with Hyperinsulinemic Hypoglycemia, Familial, 2

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet