HHF1
MCID: HYP304
MIFTS: 61

Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 1:

Name: Hyperinsulinemic Hypoglycemia, Familial, 1 57 13 73
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 53 75 29 6
Congenital Hyperinsulinism 53 25 75 73
Familial Hyperinsulinemic Hypoglycemia 1 12 75 15
Hhf1 57 12 75
Phhi 57 53 75
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57 53
Nesidioblastosis of Pancreas 57 53
Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form 59
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 59
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 59
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 59
Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis 57
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 59
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 57
Hyperinsulinism Familial with Pancreatic Nesidioblastosis 53
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 59
Persistent Hyperinsulinemia Hypoglycemia of Infancy 25
Hypoglycemia, Hyperinsulinemic, Familial, Type 1 40
Hypoglycemia, Hyperinsulinemic, of Infancy 57
Hypoglycemia Hyperinsulinemic of Infancy 53
Hyperinsulinemia Hypoglycemia of Infancy 25
Persistent Hyperinsulinemic Hypoglycemia 25
Hyperinsulinemic Hypoglycemia Familial 53
Familial Hyperinsulinemic Hypoglycemia 37
Infancy Hyperinsulinemia Hypoglycemia 25
Congenital Isolated Hyperinsulinism 53
Hyperinsulinism, Congenital 57
Hyperinsulinism Congenital 53
Familial Hyperinsulinism 53
Neonatal Hyperinsulinism 25
Phhi Hypoglycemia 25
Chi 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diazoxide-resistant focal hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
hyperinsulinemic hypoglycemia, familial, 1:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

NIH Rare Diseases : 53 Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia) that can even occur after eating. In babies 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. The severity and onset of these episodes varies, even among members of the same family. In about 60% of the cases, the episodes start within the first month of life and are very severe and difficult to manage. In other cases, the disease starts in childhood or later, and the symptoms are mild.  Early diagnosis and treatment is important to prevent neurologic damage from hypoglycemia. Congenital hyperinsulinism is caused by mutations in at least 11 different genes, including ABCC8 (responsible for about 45 % of the cases), KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, SLC16A1, UCP2, and PGM1. Inheritance may be autosomal recessive or autosomal dominant. Some cases are caused by loss of genetic material in a region of chromosome 11 (11p15) that comes from the mother (maternal chromosome). According to the extent of abnormal beta cells,  the disease can be focal (when abnormal beta cells are limited to 1 or a few areas in the pancreas) and diffuse (where the abnormal beta cells are spread throughout the pancreas). The goal of treatment is to manage the hypoglycemia to prevent brain damage. Medications may include diazoxide, octreotide, and glucagon. Surgery to remove part of the pancreas might be required in severe cases.Genetic testing may help to guide the best treatment.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 2 and beckwith-wiedemann syndrome. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Fatty acid degradation. Affiliated tissues include brain, pancreas and testes, and related phenotypes are hyperhidrosis and seizures

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the ABCC8 gene on chromosome 11p15.

Genetics Home Reference : 25 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.

OMIM : 57 Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). (256450)

UniProtKB/Swiss-Prot : 75 Familial hyperinsulinemic hypoglycemia 1: 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 Congenital hyperinsulinism (CHI) is a medical term referring to a variety of congenital disorders in... more...

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 33.0 HIST1H4C HIST1H4I
2 beckwith-wiedemann syndrome 29.9 ABCC8 H19
3 hyperinsulinemic hypoglycemia, familial, 7 12.5
4 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.4
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 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
10 ovarian cancer 11.1
11 horns in sheep 10.6
12 hyperinsulinemic hypoglycemia 10.6
13 hypoglycemia 10.6
14 hyperinsulinism 10.5
15 fibromyalgia 10.2
16 neuroblastoma 10.1
17 insulinoma 10.1
18 glucose intolerance 10.1
19 dementia 10.1
20 hepatitis 10.1
21 hypertrophic cardiomyopathy 10.1
22 nasopharyngeal carcinoma 10.1
23 west syndrome 10.1
24 pyloric stenosis 10.1
25 cholera 10.0
26 kabuki syndrome 1 10.0
27 acute insulin response 10.0
28 diabetes mellitus 10.0
29 pulmonary disease, chronic obstructive 9.9
30 coronary heart disease 1 9.9
31 osteoarthritis 9.9
32 heart disease 9.9
33 diarrhea 9.9
34 depression 9.9
35 breast cancer 9.9
36 diabetes mellitus, noninsulin-dependent 9.9
37 hypertension, essential 9.9
38 osteoporosis 9.9
39 parkinson disease, late-onset 9.9
40 rheumatoid arthritis 9.9
41 lung cancer 9.9
42 stroke, ischemic 9.9
43 mycobacterium tuberculosis 1 9.9
44 human immunodeficiency virus type 1 9.9
45 bone mineral density quantitative trait locus 8 9.9
46 bone mineral density quantitative trait locus 15 9.9
47 arthritis 9.9
48 hepatitis b 9.9
49 spinal cord injury 9.9
50 dental caries 9.9

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 1:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 1

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 1

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Growth Other:
large for gestational age

Abdomen Pancreas:
islet cell hyperplasia, diffuse
focal adenomatous hyperplasia of beta cells (uncommon)

Endocrine Features:
hyperinsulinemic hypoglycemia
insulin deficiency (may develop later in life)
diabetes (may develop later in life)

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia
mental retardation due to repeated episodes of hypoglycemia


Clinical features from OMIM:

256450

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 1:

59 32 (show all 31)
# 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 intellectual disability 32 HP:0001249
26 cognitive impairment 59 Frequent (79-30%)
27 hypoglycemia 32 hallmark (90%) HP:0001943
28 hyperinsulinemia 59 Very frequent (99-80%)
29 hypoglycemic seizures 32 HP:0002173
30 reduced pancreatic beta cells 32 hallmark (90%) HP:0006274
31 hypoglycemic coma 32 HP:0001325

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

Search Clinical Trials , NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 1:

# Genetic test Affiliating Genes
1 Persistent Hyperinsulinemic Hypoglycemia of Infancy 29 ABCC8

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 1:

41
Brain, Pancreas, Testes, Pancreatic Islet, Kidney, Lung, Heart

Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 1:

(show top 50) (show all 75)
# Title Authors Year
1
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
2
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
3
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
4
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
5
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
6
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
7
Comment on persistent hyperinsulinemic hypoglycemia of infancy. ( 23798817 )
2013
8
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. ( 22595568 )
2012
9
Persistent hyperinsulinemic hypoglycemia of infancy. ( 22876564 )
2012
10
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. ( 22869973 )
2012
11
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. ( 21956412 )
2011
12
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? ( 21283963 )
2011
13
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. ( 20589481 )
2010
14
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. ( 20572382 )
2010
15
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. ( 20830240 )
2010
16
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. ( 19432529 )
2010
17
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19433178 )
2009
18
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19159730 )
2009
19
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
20
A case of persistent hyperinsulinemic hypoglycemia of infancy successfully managed with subcutaneous octreotide injection and nocturnal intravenous glucose supply. ( 24790349 )
2007
21
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. ( 16459471 )
2005
22
Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). ( 16353670 )
2005
23
Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy. ( 15450414 )
2004
24
Persistent hyperinsulinemic hypoglycemia of infancy - nesidioblastosis. ( 15321046 )
2004
25
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. ( 15124853 )
2004
26
Persistent hyperinsulinemic hypoglycemia of infancy. ( 14518075 )
2003
27
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. ( 12939679 )
2003
28
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. ( 12606521 )
2003
29
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. ( 14689291 )
2003
30
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. ( 12410202 )
2002
31
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. ( 12186366 )
2002
32
Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. ( 12403226 )
2002
33
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. ( 12199344 )
2002
34
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. ( 11912517 )
2002
35
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. ( 12003307 )
2002
36
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 11443431 )
2001
37
The focal form of persistent hyperinsulinemic hypoglycemia of infancy. ( 11272187 )
2001
38
Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: concerns about interpretation of intraoperative frozen sections. ( 11178629 )
2001
39
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. ( 11226335 )
2001
40
The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates. ( 10664155 )
2000
41
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. ( 10615958 )
2000
42
Persistent hyperinsulinemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. ( 10689636 )
2000
43
Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. ( 11228046 )
2000
44
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. ( 10993895 )
2000
45
Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. ( 11000331 )
2000
46
Normal growth after administration of octreotide: report on a case of persistent hyperinsulinemic hypoglycemia of infancy treated by continuous subcutaneous injection of octreotide. ( 12054118 )
1999
47
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. ( 10334322 )
1999
48
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. ( 10567373 )
1999
49
Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy. ( 12114766 )
1999
50
Combined raw cornstarch and nifedipine as an additional treatment in persistent hyperinsulinemic hypoglycemia of infancy. ( 10730516 )
1999

Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

75 (show top 50) (show all 71)
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Gly716Val VAR_000100 rs72559723
2 ABCC8 p.Arg1352Pro VAR_008537 rs28936370
3 ABCC8 p.Arg1420Cys VAR_008539 rs28938469
4 ABCC8 p.Arg1493Trp VAR_008540 rs28936371
5 ABCC8 p.Arg74Gln VAR_008639 rs72559734
6 ABCC8 p.His125Gln VAR_008640 rs60637558
7 ABCC8 p.Val187Asp VAR_008641 rs137852672
8 ABCC8 p.Asn188Ser VAR_008642 rs797045213
9 ABCC8 p.Asn406Asp VAR_008644 rs72559728
10 ABCC8 p.Phe591Leu VAR_008646 rs72559726
11 ABCC8 p.Thr1138Met VAR_008649 rs201351976
12 ABCC8 p.Arg1214Gln VAR_008650 rs367850779
13 ABCC8 p.Gly1378Arg VAR_008653
14 ABCC8 p.Gly1381Ser VAR_008654 rs773448052
15 ABCC8 p.Arg1393His VAR_008655 rs769279368
16 ABCC8 p.Gly1478Arg VAR_008656 rs72559715
17 ABCC8 p.Val1360Met VAR_015007
18 ABCC8 p.Arg1436Gln VAR_015008 rs387906407
19 ABCC8 p.Glu1506Lys VAR_015009 rs137852671
20 ABCC8 p.Leu1543Pro VAR_015010 rs72559713
21 ABCC8 p.Gly7Arg VAR_031349 rs781059815
22 ABCC8 p.Val21Asp VAR_031350 rs200670692
23 ABCC8 p.Phe27Ser VAR_031351
24 ABCC8 p.Gly70Glu VAR_031352
25 ABCC8 p.Arg74Trp VAR_031353 rs201682634
26 ABCC8 p.Gly111Arg VAR_031355 rs761749884
27 ABCC8 p.Ala116Pro VAR_031356 rs72559731
28 ABCC8 p.Met233Arg VAR_031357
29 ABCC8 p.Asp310Asn VAR_031358 rs769569410
30 ABCC8 p.Cys418Arg VAR_031359 rs67254669
31 ABCC8 p.Arg495Gln VAR_031360
32 ABCC8 p.Glu501Lys VAR_031361 rs372307320
33 ABCC8 p.Leu503Pro VAR_031362
34 ABCC8 p.Leu508Pro VAR_031363 rs72559727
35 ABCC8 p.Pro551Arg VAR_031364
36 ABCC8 p.Arg620Cys VAR_031365 rs58241708
37 ABCC8 p.Phe686Ser VAR_031366
38 ABCC8 p.Lys719Thr VAR_031367
39 ABCC8 p.Arg841Gly VAR_031368
40 ABCC8 p.Lys889Thr VAR_031369 rs761862121
41 ABCC8 p.Ser956Phe VAR_031370 rs72559721
42 ABCC8 p.Thr1130Pro VAR_031371
43 ABCC8 p.Leu1147Arg VAR_031372
44 ABCC8 p.Arg1214Trp VAR_031373 rs139964066
45 ABCC8 p.Asn1295Lys VAR_031374
46 ABCC8 p.Lys1336Asn VAR_031375 rs67767715
47 ABCC8 p.Gly1342Glu VAR_031376
48 ABCC8 p.Leu1349Gln VAR_031377
49 ABCC8 p.Lys1384Gln VAR_031378
50 ABCC8 p.Ser1386Phe VAR_031379 rs72559718

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

6 (show top 50) (show all 413)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
2 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh38 Chromosome 11, 17395610: 17395610
3 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
4 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh38 Chromosome 11, 17397055: 17397055
5 ABCC8 NM_000352.4(ABCC8): c.2292-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17414611: 17414611
6 ABCC8 NM_000352.4(ABCC8): c.2292-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17436158: 17436158
7 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
8 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
9 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh38 Chromosome 11, 17396980: 17396980
10 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
11 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28938469 GRCh38 Chromosome 11, 17395659: 17395659
12 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
13 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh38 Chromosome 11, 17394334: 17394334
14 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
15 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh38 Chromosome 11, 17394295: 17394295
16 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
17 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh38 Chromosome 11, 17463457: 17463457
18 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417438: 17417440
19 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh38 Chromosome 11, 17395891: 17395893
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_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh38 Chromosome 11, 17427124: 17427124
23 ABCC8 NM_000352.4(ABCC8): c.1332+17G> C single nucleotide variant Uncertain significance rs193922395 GRCh37 Chromosome 11, 17470046: 17470046
24 ABCC8 NM_000352.4(ABCC8): c.1332+17G> C single nucleotide variant Uncertain significance rs193922395 GRCh38 Chromosome 11, 17448499: 17448499
25 ABCC8 NM_000352.4(ABCC8): c.4120-19C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1800853 GRCh37 Chromosome 11, 17417496: 17417496
26 ABCC8 NM_000352.4(ABCC8): c.4120-19C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1800853 GRCh38 Chromosome 11, 17395949: 17395949
27 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
28 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
29 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
30 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh38 Chromosome 11, 17395852: 17395852
31 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
32 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
33 ABCC8 NM_000352.4(ABCC8): c.4451G> A (p.Gly1484Glu) single nucleotide variant Likely pathogenic rs193922405 GRCh37 Chromosome 11, 17415907: 17415907
34 ABCC8 NM_000352.4(ABCC8): c.4451G> A (p.Gly1484Glu) single nucleotide variant Likely pathogenic rs193922405 GRCh38 Chromosome 11, 17394360: 17394360
35 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148529020 GRCh37 Chromosome 11, 17482160: 17482160
36 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148529020 GRCh38 Chromosome 11, 17460613: 17460613
37 ABCC8 NM_000352.4: c.(?_1818)_(1923_?)del deletion Pathogenic
38 ABCC8 NM_000352.4: c.512dupT duplication Pathogenic
39 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
40 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh37 Chromosome 11, 17470059: 17470059
41 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh38 Chromosome 11, 17448512: 17448512
42 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh37 Chromosome 11, 17452492: 17452492
43 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh38 Chromosome 11, 17430945: 17430945
44 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh37 Chromosome 11, 17449929: 17449929
45 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh38 Chromosome 11, 17428382: 17428382
46 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh37 Chromosome 11, 17434284: 17434284
47 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh38 Chromosome 11, 17412737: 17412737
48 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
49 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560
50 ABCC8 NM_000352.4(ABCC8): c.3819G> A (p.Arg1273=) single nucleotide variant Benign rs1799859 GRCh37 Chromosome 11, 17419279: 17419279

Expression for Hyperinsulinemic Hypoglycemia, Familial, 1

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 1.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 1

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Fatty acid degradation hsa00071
3 D-Glutamine and D-glutamate metabolism hsa00471
4 ABC transporters hsa02010
5 Insulin signaling pathway hsa04910
6 Type II diabetes mellitus hsa04930

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 HIST1H4C HIST1H4I HIST1H4J NEO1
2
Show member pathways
12.68 HIST1H4C HIST1H4I HIST1H4J
3
Show member pathways
12.59 HIST1H4C HIST1H4I HIST1H4J
4
Show member pathways
12.57 HIST1H4C HIST1H4I HIST1H4J
5
Show member pathways
12.55 HIST1H4C HIST1H4I HIST1H4J
6
Show member pathways
12.43 HIST1H4C HIST1H4I HIST1H4J
7
Show member pathways
12.28 HIST1H4C HIST1H4I HIST1H4J
8
Show member pathways
12.2 HIST1H4C HIST1H4I HIST1H4J
9
Show member pathways
12.14 HIST1H4C HIST1H4I HIST1H4J
10
Show member pathways
12.04 HIST1H4C HIST1H4I HIST1H4J
11
Show member pathways
11.9 HIST1H4C HIST1H4I HIST1H4J
12
Show member pathways
11.85 HIST1H4C HIST1H4I HIST1H4J
13 11.74 HIST1H4C HIST1H4I HIST1H4J
14
Show member pathways
11.56 HIST1H4C HIST1H4I HIST1H4J
15
Show member pathways
11.28 HIST1H4C HIST1H4I HIST1H4J
16 10.39 HIST1H4C HIST1H4I HIST1H4J

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 1

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.54 HIST1H4C HIST1H4I HIST1H4J
2 chromosome GO:0005694 9.5 HIST1H4C HIST1H4I HIST1H4J
3 nuclear chromosome, telomeric region GO:0000784 9.43 HIST1H4C HIST1H4I HIST1H4J
4 nucleosome GO:0000786 9.33 HIST1H4C HIST1H4I HIST1H4J
5 nuclear chromosome GO:0000228 9.13 HIST1H4C HIST1H4I HIST1H4J
6 nuclear nucleosome GO:0000788 8.8 HIST1H4C HIST1H4I HIST1H4J

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.72 HIST1H4C HIST1H4I HIST1H4J
2 nucleosome assembly GO:0006334 9.71 HIST1H4C HIST1H4I HIST1H4J
3 regulation of megakaryocyte differentiation GO:0045652 9.7 HIST1H4C HIST1H4I HIST1H4J
4 double-strand break repair via nonhomologous end joining GO:0006303 9.69 HIST1H4C HIST1H4I HIST1H4J
5 regulation of gene silencing by miRNA GO:0060964 9.67 HIST1H4C HIST1H4I HIST1H4J
6 negative regulation of gene expression, epigenetic GO:0045814 9.65 HIST1H4C HIST1H4I HIST1H4J
7 protein heterotetramerization GO:0051290 9.63 HIST1H4C HIST1H4I HIST1H4J
8 CENP-A containing nucleosome assembly GO:0034080 9.61 HIST1H4C HIST1H4I HIST1H4J
9 DNA-templated transcription, initiation GO:0006352 9.58 HIST1H4C HIST1H4I HIST1H4J
10 chromatin silencing at rDNA GO:0000183 9.54 HIST1H4C HIST1H4I HIST1H4J
11 DNA replication-dependent nucleosome assembly GO:0006335 9.5 HIST1H4C HIST1H4I HIST1H4J
12 telomere capping GO:0016233 9.43 HIST1H4C HIST1H4I HIST1H4J
13 telomere organization GO:0032200 9.33 HIST1H4C HIST1H4I HIST1H4J
14 DNA replication-independent nucleosome assembly GO:0006336 9.13 HIST1H4C HIST1H4I HIST1H4J
15 negative regulation of megakaryocyte differentiation GO:0045653 8.8 HIST1H4C HIST1H4I HIST1H4J

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.13 HIST1H4C HIST1H4I HIST1H4J
2 protein domain specific binding GO:0019904 8.8 HIST1H4C HIST1H4I HIST1H4J

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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