HHF2
MCID: HYP604
MIFTS: 57

Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2)

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 57 13 73
Nesidioblastosis 57 76 55 73
Hhf2 57 12 53 75
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 24 75
Familial Hyperinsulinemic Hypoglycemia 2 12 75 15
Familial Hyperinsulinism 24 29 6
Phhi 57 24 75
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 12 59
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57 12
Congenital Hyperinsulinism 75 73
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 59
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 59
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 59
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 59
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 59
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 57
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 59
Hyperinsulinemic Hypoglycemia, Persistent 57
Hyperinsulinemic Hypoglycemia Familial 2 53
Hyperinsulinism, Congenital 57
Hyperinsulinism, Neonatal 57
Hyperinsulinism, Familial 57
Fhi 24

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

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


GeneReviews:

24
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: 59  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the KCNJ11 gene on chromosome 11p15.1.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 2, also known as nesidioblastosis, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia. 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 Mitotic Prophase and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include brain, pancreas and pancreatic islet, and related phenotypes are hyperhidrosis and seizures

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemia attributed to... more...

Description from OMIM: 601820
GeneReviews: NBK1375

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 7

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 32.7 HIST1H4C HIST1H4I
2 hyperinsulinemic hypoglycemia 31.0 HNF4A KCNJ11
3 monogenic diabetes 29.8 HNF4A KCNJ11
4 fuchs' heterochromic uveitis 12.0
5 hyperinsulinemic hypoglycemia, familial, 3 11.7
6 hyperinsulinemic hypoglycemia, familial, 5 11.7
7 hyperinsulinemic hypoglycemia, familial, 4 11.7
8 hyperinsulinemic hypoglycemia, familial, 6 11.3
9 mahvash disease 11.2
10 retinal vasculitis 11.1
11 hypoglycemia 10.6
12 hyperinsulinism 10.5
13 diabetes mellitus 10.1
14 neuroblastoma 10.1
15 insulinoma 10.1
16 glucose intolerance 10.1
17 islet cell tumor 10.1
18 pancreatitis 10.1
19 hepatitis 10.1
20 maturity-onset diabetes of the young, type 13 10.0 HNF4A KCNJ11
21 diabetes mellitus, noninsulin-dependent 10.0
22 beckwith-wiedemann syndrome 10.0
23 smith-magenis syndrome 10.0
24 hypopituitarism 10.0
25 kabuki syndrome 1 10.0
26 acute insulin response 10.0
27 insulinomatosis and diabetes mellitus 9.9
28 cystic fibrosis 9.8
29 enterocolitis 9.8
30 glycogen storage disease ia 9.8
31 myelodysplastic syndrome 9.8
32 glycogen storage disease 9.8
33 zollinger-ellison syndrome 9.8
34 lymphoma 9.8
35 teratoma 9.8
36 hyperglycemia 9.8
37 vipoma 9.8
38 gastrinoma 9.8
39 adenoma 9.8
40 orbit lymphoma 9.8
41 hypertrophic cardiomyopathy 9.8
42 sickle cell disease 9.8
43 degos 'en cocarde' erythrokeratoderma 9.8
44 fasting hypoglycemia 9.8
45 glucagonoma 9.8
46 metastatic insulinoma 9.8
47 orbital lymphoma 9.8
48 pancreatic adenoma 9.8
49 glycogen storage disease due to glucose-6-phosphatase deficiency 9.8
50 adenoma of the pancreas 9.8

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:

57
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Growth Other:
large for gestational age

Endocrine Features:
hyperinsulinemic hypoglycemia

Abdomen Pancreas:
islet cell hyperplasia, diffuse


Clinical features from OMIM:

601820

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
9 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
10 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
11 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
12 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
13 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
14 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
15 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
16 decreased circulating cortisol level 59 32 occasional (7.5%) Occasional (29-5%) HP:0008163
17 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
18 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
19 abnormal brain fdg positron emission tomography 59 32 occasional (7.5%) Occasional (29-5%) HP:0012658
20 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
21 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
22 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
23 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
24 vitamin b1 deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0100503
25 cognitive impairment 59 Frequent (79-30%)
26 hypoglycemia 32 HP:0001943
27 hyperinsulinemia 59 Very frequent (99-80%)

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:

# Genetic test Affiliating Genes
1 Familial Hyperinsulinism 29 HNF4A

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

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

41
Brain, Pancreas, Pancreatic Islet, B Cells, Heart, Testes, Spleen

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 230)
# Title Authors Year
1
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
2
Resolution of hyperinsulinemic hypoglycemia following partial pancreatectomy in a dog with nesidioblastosis. ( 30211650 )
2018
3
Pancreatic nesidioblastosis: Case report. ( 30139587 )
2018
4
Anesthetic management of a case of nesidioblastosis. ( 30429762 )
2018
5
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
6
Anaesthetic Management Of Nesidioblastosis In Two Infants. ( 29331007 )
2017
7
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
8
A Unique Case of Mediastinal Teratoma with Mature Pancreatic Tissue, Nesidioblastosis, and Aberrant Islet Differentiation: a Case Report and Literature Review. ( 26318442 )
2016
9
Successful Medical Treatment of Adult Nesidioblastosis With Pasireotide over 3 Years: A Case Report. ( 27057885 )
2016
10
Difficult diagnosis and localization of focal nesidioblastosis: clinical implications of (68)Gallium-DOTA-D-Phe(1)-Tyr(3)-octreotide PET scanning. ( 27433465 )
2016
11
Robotic Near-Total Pancreatectomy for Nesidioblastosis after Bariatric Surgery. ( 27718175 )
2016
12
Hyperinsulinaemic, hypoglycaemic syndrome due to acquired nesidioblastosis in a cat. ( 28491431 )
2016
13
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
14
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
15
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
16
A rare complication of gastric bypass (weight loss) surgery: nesidioblastosis. ( 25326474 )
2015
17
Preoperative localization of adult nesidioblastosis using ⁶⁸Ga-DOTA-exendin-4-PET/CT. ( 26001537 )
2015
18
Nesidioblastosis coexisting with non-functioning islet cell tumour in an adult. ( 26323473 )
2015
19
Amlodipine for the Medical Treatment of Adult-Onset Diffuse Nesidioblastosis. ( 26355554 )
2015
20
A rare case of focal nesidioblastosis causing adult-onset hypoglycemia. ( 26622382 )
2015
21
Nesidioblastosis in adults. ( 24645840 )
2014
22
Comment on persistent hyperinsulinemic hypoglycemia of infancy. ( 23798817 )
2013
23
Nesidioblastosis: an undescribed cause of transient loss of conscience in young adults. ( 23478090 )
2013
24
Adult onset nesidioblastosis treated by subtotal pancreatectomy. ( 23669482 )
2013
25
Nesidioblastosis. A case of hyperplasia of the islets of Langerhans in the adult. ( 24075522 )
2013
26
Diffuse nesidioblastosis diagnosed on a Ga-68 DOTATATE positron emission tomography/computerized tomography. ( 24250024 )
2013
27
Adult-onset diffuse nesidioblastosis causing hypoglycemia. ( 26181405 )
2013
28
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. ( 22595568 )
2012
29
Persistent hyperinsulinemic hypoglycemia of infancy. ( 22876564 )
2012
30
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. ( 22869973 )
2012
31
Nesidioblastosis in a simmental calf. ( 22633645 )
2012
32
Hepatobiliary and pancreatic: nesidioblastosis. ( 22908873 )
2012
33
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. ( 21956412 )
2011
34
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? ( 21283963 )
2011
35
Nesidioblastosis no longer! It's all about genetics. ( 21378225 )
2011
36
Diffuse nesidioblastosis of the pancreas in a neonate with seizures. ( 22234146 )
2011
37
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. ( 20589481 )
2010
38
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. ( 20572382 )
2010
39
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. ( 20830240 )
2010
40
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. ( 19432529 )
2010
41
Case report: focal nesidioblastosis ("nesidioblastoma") in an adult. ( 20004945 )
2010
42
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19433178 )
2009
43
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19159730 )
2009
44
Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. ( 18339976 )
2008
45
Adult diffuse nesidioblastosis: genetically or environmentally induced? ( 18070631 )
2008
46
Mcl-1, an anti-apoptotic Bcl-2 family member, essentially overlaps with insulin-producing cells in neonatal nesidioblastosis. ( 18236072 )
2008
47
Adult nesidioblastosis. Clinicopathologic correlation between pre-operative selective arterial calcium stimulation studies and post-operative pathologic findings. ( 18648143 )
2008
48
A 20-year-old man with recurrent abdominal pain and vomiting since the age of 5 years. Familial chronic pancreatitis with nesidioblastosis and hyperinsulinaemic hypoglycaemia. ( 19691221 )
2008
49
A case of persistent hyperinsulinemic hypoglycemia of infancy successfully managed with subcutaneous octreotide injection and nocturnal intravenous glucose supply. ( 24790349 )
2007
50
Laparoscopic spleen-preserving distal pancreatectomy as treatment for nesidioblastosis after gastric bypass surgery. ( 17608271 )
2007

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

75 (show all 17)
# 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 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
2 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
3 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
4 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
5 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
6 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
7 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
8 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
9 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
10 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
11 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
12 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
13 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
14 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
15 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
16 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
17 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
18 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
19 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
20 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
21 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
22 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
23 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
24 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
25 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
26 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
27 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
28 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
29 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
30 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
31 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
32 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
33 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
34 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh38 Chromosome 11, 17386949: 17386954
35 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh37 Chromosome 11, 17408496: 17408501
36 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
37 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
38 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
39 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
40 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
41 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
42 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
43 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
44 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
45 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh37 Chromosome 11, 17409485: 17409485
46 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh37 Chromosome 11, 17409559: 17409559
47 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh38 Chromosome 11, 17388012: 17388012
48 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh37 Chromosome 11, 17408546: 17408546
49 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh38 Chromosome 11, 17386999: 17386999
50 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh37 Chromosome 11, 17408771: 17408771

Expression for Hyperinsulinemic Hypoglycemia, Familial, 2

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

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 2

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.54 ATP6V0A1 RAB2A TCIRG1
2 phagocytic vesicle membrane GO:0030670 9.46 ATP6V0A1 TCIRG1
3 ficolin-1-rich granule membrane GO:0101003 9.43 ATP6V0A1 TCIRG1
4 nuclear chromosome GO:0000228 9.4 HIST1H4C HIST1H4I
5 nuclear chromosome, telomeric region GO:0000784 9.33 HIST1H4C HIST1H4I UPF1
6 nuclear nucleosome GO:0000788 9.32 HIST1H4C HIST1H4I
7 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.26 ATP6V0A1 TCIRG1
8 proton-transporting V-type ATPase, V0 domain GO:0033179 8.96 ATP6V0A1 TCIRG1
9 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 8.62 ATP6V0A1 TCIRG1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.67 ATP6V0A1 KCNJ11 TCIRG1
2 insulin receptor signaling pathway GO:0008286 9.58 ATP6V0A1 TCIRG1
3 regulation of megakaryocyte differentiation GO:0045652 9.58 HIST1H4C HIST1H4I
4 regulation of insulin secretion GO:0050796 9.57 HNF4A KCNJ11
5 double-strand break repair via nonhomologous end joining GO:0006303 9.56 HIST1H4C HIST1H4I
6 regulation of gene silencing by miRNA GO:0060964 9.55 HIST1H4C HIST1H4I
7 negative regulation of gene expression, epigenetic GO:0045814 9.54 HIST1H4C HIST1H4I
8 protein heterotetramerization GO:0051290 9.52 HIST1H4C HIST1H4I
9 CENP-A containing nucleosome assembly GO:0034080 9.51 HIST1H4C HIST1H4I
10 DNA-templated transcription, initiation GO:0006352 9.48 HIST1H4C HIST1H4I
11 chromatin silencing at rDNA GO:0000183 9.46 HIST1H4C HIST1H4I
12 transferrin transport GO:0033572 9.43 ATP6V0A1 TCIRG1
13 DNA replication-dependent nucleosome assembly GO:0006335 9.4 HIST1H4C HIST1H4I
14 ATP hydrolysis coupled proton transport GO:0015991 9.37 ATP6V0A1 TCIRG1
15 telomere capping GO:0016233 9.32 HIST1H4C HIST1H4I
16 telomere organization GO:0032200 9.26 HIST1H4C HIST1H4I
17 DNA replication-independent nucleosome assembly GO:0006336 9.16 HIST1H4C HIST1H4I
18 negative regulation of megakaryocyte differentiation GO:0045653 8.96 HIST1H4C HIST1H4I
19 vacuolar acidification GO:0007035 8.62 ATP6V0A1 TCIRG1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.16 ATP6V0A1 TCIRG1
2 proton transmembrane transporter activity GO:0015078 8.96 ATP6V0A1 TCIRG1
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.62 ATP6V0A1 TCIRG1

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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