MCID: HYP604
MIFTS: 42

Hyperinsulinemic Hypoglycemia, Familial, 2

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 54 13 69
Persistent Hyperinsulinemic Hypoglycemia of Infancy 23 50 24 71
Congenital Hyperinsulinism 50 25 71 69
Familial Hyperinsulinism 23 50 24 29
Phhi 23 50 71
Hhf2 50 71
Fhi 23 24
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 56
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 56
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 56
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 50
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 56
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 56
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 56
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 50
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 56
Persistent Hyperinsulinemia Hypoglycemia of Infancy 25
Hypoglycemia Hyperinsulinemic of Infancy 50
Hyperinsulinemic Hypoglycemia Familial 2 50
Hyperinsulinemia Hypoglycemia of Infancy 25
Persistent Hyperinsulinemic Hypoglycemia 25
Familial Hyperinsulinemic Hypoglycemia 2 71
Hyperinsulinemic Hypoglycemia Familial 50
Infancy Hyperinsulinemia Hypoglycemia 25
Nesidioblastosis of Pancreas 50
Hyperinsulinism Congenital 50
Neonatal Hyperinsulinism 25
Phhi Hypoglycemia 25
Hyperinsulinemia 24
Hyperinsulinism 69

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

32
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance heterogeneous autosomal recessive inheritance


GeneReviews:

23
Penetrance Autosomal recessive fhi demonstrates nearly complete penetrance. some splice variants, particularly the abcc8 pathogenic variant common in the ashkenazi jewish population, present with markedly variable clinical severity; some homozygous individuals may be asymptomatic...

Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

NIH Rare Diseases : 50 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 persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 3 and adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia, and has symptoms including diarrhea, hepatomegaly and seizures. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Insulin secretion and Integration of energy metabolism. Affiliated tissues include brain, pancreas and pancreatic islet.

UniProtKB/Swiss-Prot : 71 Familial hyperinsulinemic hypoglycemia 2: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

Description from OMIM: 601820
GeneReviews: NBK1375

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

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 all 40)
id Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 12.2
2 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.2
3 hyperinsulinemic hypoglycemia, familial, 7 12.2
4 hyperinsulinemic hypoglycemia, familial, 4 12.2
5 fuchs' heterochromic uveitis 11.7
6 hyperinsulinemic hypoglycemia 11.2
7 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.9
8 hyperinsulinemic hypoglycemia, familial, 1 10.8
9 retinal vasculitis 10.8
10 familial hyperinsulinsism 10.8
11 hyperinsulinism 10.3
12 writing disorder 9.8 ABCC8 KCNJ11
13 atrial fibrillation, familial, 12 9.8 ABCC8 KCNJ11
14 labyrinthine unilateral reactive loss 9.8 ABCC8 KCNJ11
15 hemoglobin zurich 9.8 ABCC8 KCNJ11
16 noonan syndrome 2 9.8 ABCC8 KCNJ11
17 deafness, autosomal recessive 18a 9.8 ABCC8 KCNJ11
18 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.7 ABCC8 KCNJ11
19 neurogenic arthropathy 9.7 ABCC8 KCNJ11
20 nephronophthisis 19 9.7 ABCC8 KCNJ11
21 chondroma 9.7 ABCC8 KCNJ11
22 diaphanospondylodysostosis 9.6 ABCC8 KCNJ11
23 pancreatitis 9.6
24 hyperammonemia 9.6
25 usher syndrome, type 1c 9.6
26 hyperinsulinism-hyperammonemia syndrome 9.6
27 usher syndrome 9.6
28 distal muscular dystrophy 9.5 ABCC8 KCNJ11
29 peroneal neuropathy 9.5 ABCC8 KCNJ11
30 hypertrichosis 9.4 ABCC8 KCNJ11
31 acute insulin response 9.3 ABCC8 KCNJ11 UCP2
32 familial papillary thyroid carcinoma 9.2 ABCC8 HNF4A UCP2
33 morning glory syndrome 9.2 ABCC8 HNF4A KCNJ11
34 diabetic cataract 9.2 ABCC8 HNF4A KCNJ11
35 triple x syndrome 9.2 ABCC8 KCNJ11
36 congenital stationary night blindness 9.2 ABCC8 HNF4A KCNJ11
37 hepatic adenoma, somatic 8.9 ABCC8 HNF4A KCNJ11
38 diabetes mellitus, transient neonatal, 3 8.7 ABCC8 HNF4A KCNJ11 UCP2
39 exostosis 8.7 ABCC8 HNF4A KCNJ11 UCP2
40 maturity-onset diabetes of the young 6 8.7 ABCC8 HNF4A KCNJ11 UCP2

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



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 2

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
hyperinsulinemia
hypoglycemia

Endocrine Features:
hyperinsulinemic hypoglycemia

Abdomen- Pancreas:
islet cell hyperplasia, diffuse

Growth- Other:
large for gestational age


Clinical features from OMIM:

601820

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 56 32 frequent (33%) Frequent (79-30%) HP:0002014
2 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 lethargy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001254
5 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
6 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002013
8 hypoketotic hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001985
9 coma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001259
10 tachycardia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001649
11 hyperinsulinemic hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000825
12 progressive neurologic deterioration 56 32 hallmark (90%) Very frequent (99-80%) HP:0002344
13 drowsiness 56 32 occasional (7.5%) Occasional (29-5%) HP:0002329
14 agitation 56 32 occasional (7.5%) Occasional (29-5%) HP:0000713
15 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
16 neonatal hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001998
17 pallor 56 32 hallmark (90%) Very frequent (99-80%) HP:0000980
18 large for gestational age 56 32 occasional (7.5%) Occasional (29-5%) HP:0001520
19 secondary growth hormone deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0008240
20 decreased circulating cortisol level 56 32 occasional (7.5%) Occasional (29-5%) HP:0008163
21 abnormal brain fdg positron emission tomography 56 32 occasional (7.5%) Occasional (29-5%) HP:0012658
22 pancreatic islet-cell hyperplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004510
23 abnormality of fatty-acid metabolism 56 32 hallmark (90%) Very frequent (99-80%) HP:0004359
24 vitamin b1 deficiency 56 32 frequent (33%) Frequent (79-30%) HP:0100503
25 cognitive impairment 56 Frequent (79-30%)
26 hyperinsulinemia 56 Very frequent (99-80%)
27 hypoglycemia 32 HP:0001943

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 2

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

id Genetic test Affiliating Genes
1 Familial Hyperinsulinism 29 24 UCP2

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

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

39
Brain, Pancreas, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Leu147Pro VAR_001557 rs28936678
2 KCNJ11 p.Lys67Asn VAR_026506
3 KCNJ11 p.Trp91Arg VAR_026507
4 KCNJ11 p.Pro254Leu VAR_026513
5 KCNJ11 p.Arg34His VAR_031329
6 KCNJ11 p.Gly40Asp VAR_031330
7 KCNJ11 p.Phe55Leu VAR_031335
8 KCNJ11 p.Ala101Asp VAR_031336
9 KCNJ11 p.Ser116Pro VAR_031337
10 KCNJ11 p.Gly134Ala VAR_031338
11 KCNJ11 p.Arg136Leu VAR_031339
12 KCNJ11 p.His259Arg VAR_031345
13 KCNJ11 p.Pro266Leu VAR_031346
14 KCNJ11 p.Arg301His VAR_031347
15 KCNJ11 p.Gly156Arg VAR_073683
16 KCNJ11 p.Asp204Glu VAR_073685
17 KCNJ11 p.Glu282Lys VAR_073687

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

6 (show top 50) (show all 54)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
2 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
3 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
4 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
5 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
6 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
7 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
8 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
9 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
10 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
11 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
12 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
13 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
14 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
15 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
16 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
17 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
18 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
19 ABCC8 NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417439: 17417441
20 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
21 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
22 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
23 ABCC8 ABCC8, EX13DEL deletion Pathogenic
24 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
25 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
26 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195
27 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
28 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
29 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh37 Chromosome 11, 17429962: 17429962
30 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
31 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
32 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
33 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
34 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
35 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
36 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
37 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
38 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
39 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
40 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
41 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
42 ABCC8 NM_000352.4(ABCC8): c.1879delC (p.His627Metfs) deletion Pathogenic/Likely pathogenic rs1057516860 GRCh38 Chromosome 11, 17428609: 17428609
43 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh38 Chromosome 11, 17442719: 17442719
44 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821
45 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh37 Chromosome 11, 17408771: 17408771
46 KCNJ11 NM_000525.3(KCNJ11): c.406C> T (p.Arg136Cys) single nucleotide variant Pathogenic rs766891274 GRCh37 Chromosome 11, 17409233: 17409233
47 ABCC8 NM_000352.4(ABCC8): c.4450G> A (p.Gly1484Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17415908: 17415908
48 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
49 ABCC8 NM_000352.4(ABCC8): c.4376T> G (p.Leu1459Arg) single nucleotide variant Pathogenic rs971604271 GRCh37 Chromosome 11, 17416754: 17416754
50 ABCC8 NM_000352.4(ABCC8): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs769518471 GRCh38 Chromosome 11, 17407058: 17407058

Expression for Hyperinsulinemic Hypoglycemia, Familial, 2

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

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 2

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.83 ABCC8 KCNJ11
2
Show member pathways
11.77 ABCC8 KCNJ11
3
Show member pathways
11.54 ABCC8 KCNJ11
4
Show member pathways
11.38 ABCC8 KCNJ11
5
Show member pathways
11.11 ABCC8 HNF4A KCNJ11
6 11 ABCC8 KCNJ11
7 10.87 ABCC8 KCNJ11
8 10.57 ABCC8 HNF4A KCNJ11 UCP2

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

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

id Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.16 ABCC8 KCNJ11
2 voltage-gated potassium channel complex GO:0008076 8.96 ABCC8 KCNJ11
3 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

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

id Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.4 ABCC8 KCNJ11
2 potassium ion transport GO:0006813 9.37 ABCC8 KCNJ11
3 female pregnancy GO:0007565 9.32 ABCC8 UCP2
4 response to glucose GO:0009749 9.26 HNF4A UCP2
5 cellular response to glucose stimulus GO:0071333 9.16 KCNJ11 UCP2
6 negative regulation of insulin secretion GO:0046676 8.96 ABCC8 KCNJ11
7 regulation of insulin secretion GO:0050796 8.8 ABCC8 HNF4A KCNJ11

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

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.96 ABCC8 KCNJ11
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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