HHF1
MCID: HYP304
MIFTS: 39

Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1) malady

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

Aliases & Descriptions for Hyperinsulinemic Hypoglycemia, Familial, 1:

Name: Hyperinsulinemic Hypoglycemia, Familial, 1 54 13 69
Persistent Hyperinsulinemic Hypoglycemia of Infancy 66 29
Congenital Hyperinsulinism 66 69
Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form 56
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 56
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 56
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 56
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 56
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 56
Familial Hyperinsulinemic Hypoglycemia 1 66
Phhi 66
Hhf1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 256450
ICD10 via Orphanet 34 E16.1
MedGen 40 C1257959

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

OMIM : 54 Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent... (256450) more...

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 5 and hyperinsulinemic hypoglycemia, familial, 2, and has symptoms including seizures, vomiting and diarrhea. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). The drugs Octreotide and lanreotide have been mentioned in the context of this disorder. Affiliated tissues include brain and pancreatic islet.

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.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

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 by clinical synopsis from OMIM:

256450

Clinical features from OMIM:

256450

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 1:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 vomiting 56 32 Frequent (79-30%) HP:0002013
3 diarrhea 56 32 Frequent (79-30%) HP:0002014
4 agitation 56 32 Occasional (29-5%) HP:0000713
5 lethargy 56 32 Very frequent (99-80%) HP:0001254
6 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
7 global developmental delay 56 32 Occasional (29-5%) HP:0001263
8 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
9 microcephaly 56 32 Frequent (79-30%) HP:0000252
10 pallor 56 32 Very frequent (99-80%) HP:0000980
11 coma 56 32 Very frequent (99-80%) HP:0001259
12 hyperinsulinemic hypoglycemia 56 32 Very frequent (99-80%) HP:0000825
13 secondary growth hormone deficiency 56 32 Occasional (29-5%) HP:0008240
14 neonatal hypoglycemia 56 32 Very frequent (99-80%) HP:0001998
15 decreased circulating cortisol level 56 32 Occasional (29-5%) HP:0008163
16 tachycardia 56 32 Very frequent (99-80%) HP:0001649
17 drowsiness 56 32 Occasional (29-5%) HP:0002329
18 abnormal brain fdg positron emission tomography 56 32 Occasional (29-5%) HP:0012658
19 pancreatic islet-cell hyperplasia 56 32 Very frequent (99-80%) HP:0004510
20 large for gestational age 56 32 Occasional (29-5%) HP:0001520
21 abnormality of fatty-acid metabolism 56 32 Very frequent (99-80%) HP:0004359
22 progressive neurologic deterioration 56 32 Very frequent (99-80%) HP:0002344
23 hypoketotic hypoglycemia 56 32 Very frequent (99-80%) HP:0001985
24 vitamin b1 deficiency 56 32 Frequent (79-30%) HP:0100503
25 intellectual disability 32 HP:0001249
26 cognitive impairment 56 Frequent (79-30%)
27 hyperinsulinemia 56 Very frequent (99-80%)
28 hypoglycemic seizures 32 HP:0002173
29 hypoglycemic coma 32 HP:0001325

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 4,Phase 2 83150-76-9 383414 6400441
2
lanreotide Approved Phase 4 108736-35-2
3
Somatostatin Approved Phase 4,Phase 2 38916-34-6, 51110-01-1 53481605
4
Testosterone Approved, Investigational Phase 4,Phase 1 58-22-0 6013
5
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
6
Clozapine Approved Phase 4 5786-21-0 2818
7
Methyltestosterone Approved Phase 4,Phase 1 58-18-4 6010
8
Curcumin Phase 4 458-37-7 969516
9 Analgesics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
12 Hormones Phase 4,Phase 1,Phase 2,Early Phase 1
13 Peripheral Nervous System Agents Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
15 Angiopeptin Phase 4
16 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
17 Anti-Inflammatory Agents Phase 4
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19 Antirheumatic Agents Phase 4
20 insulin Phase 4,Phase 2,Phase 3,Phase 1
21 Testosterone undecanoate Phase 4,Phase 1
22
Serotonin Phase 4 50-67-9 5202
23 Serotonin Agents Phase 4
24 Serotonin Antagonists Phase 4
25 GABA Agents Phase 4
26 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Testosterone 17 beta-cypionate Phase 4,Phase 1
28
Testosterone enanthate Phase 4,Phase 1 315-37-7 9416
29 Anabolic Agents Phase 4,Phase 1
30 Androgens Phase 4,Phase 1
31 Tranquilizing Agents Phase 4
32 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1
33 Psychotropic Drugs Phase 4
34 Antipsychotic Agents Phase 4
35 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 1
36 Central Nervous System Depressants Phase 4
37
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
38
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
39 Vasodilator Agents Phase 2, Phase 3
40 Antihypertensive Agents Phase 2, Phase 3
41 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
42 Dopamine Agents Phase 3,Phase 2,Phase 1
43
Exenatide Approved, Investigational Phase 1, Phase 2,Early Phase 1 141758-74-9 15991534
44
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757 53477783
45
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
46
Norethindrone Approved Phase 2 68-22-4 6230
47
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
48
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
49
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
50
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show all 42)
id Name Status NCT ID Phase
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4
2 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4
3 Endothelial Dysfunction, Inflammation and Insulin Resistance in Congenital Hypogonadism and Effect of Testosteron Replacement Therapy Completed NCT02171390 Phase 4
4 Adjunctive Low-dose Metformin in Patients With Schizophrenia and Metabolic Abnormalities Completed NCT02751307 Phase 4
5 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
6 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3
7 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3
8 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3
9 Effects of Human Leptin Replacement Unknown status NCT00657605 Phase 2
10 Effects of Leptin Replacement in Children Unknown status NCT00659828 Phase 2
11 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism Completed NCT02604485 Phase 2
12 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2
13 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2
14 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2
15 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2
16 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2
17 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Recruiting NCT02937558 Phase 2
18 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2
19 Sirolimus for the Treatment of Hyperinsulinism Recruiting NCT02524639 Phase 1, Phase 2
20 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2
21 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Active, not recruiting NCT01468454 Phase 2
22 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Active, not recruiting NCT00674440 Phase 2
23 Pasireotide in Hyperinsulinemic Hypoglycemia Not yet recruiting NCT03053284 Phase 2
24 Fluorodopa F 18 in Congenital Hyperinsulinism Recruiting NCT02021604 Phase 1
25 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1
26 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
27 68Ga-NOTA-exendin-4 PET/CT for the Localization of Insulinoma and Diagnosis of Nesidioblastosis Unknown status NCT02560376 Early Phase 1
28 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425
29 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
30 Fat Metabolism in Pregnancy and Neonatal Heart Function in Diabetes Completed NCT01346527
31 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
32 To Study Polycystic Ovary Syndrome in Taiwanese Women Completed NCT01256944
33 Presentations of Hyperandrogenic Phenotypes in Taiwanese Women Completed NCT01940666
34 Frequency of Metabolic Syndrome in Down Syndrome Patients Completed NCT00864461
35 Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome Completed NCT00523835
36 Phlebotomy and Polycystic Ovary Syndrome Recruiting NCT02460445
37 Role of Adipokines in Glucose Regulation During Pregnancy and in Fetal Development Active, not recruiting NCT01623934
38 Melatonin Metabolism Abnormality in Patients With Schizophrenia or Schizoaffective Disorder Treated With Olanzapine Active, not recruiting NCT00512070
39 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131
40 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148
41 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219
42 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 1:

id Genetic test Affiliating Genes
1 Persistent Hyperinsulinemic Hypoglycemia of Infancy 29

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

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

39
Brain, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

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

66 (show top 50) (show all 71)
id 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
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 68)
id 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.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
3 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
4 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
5 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
6 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
7 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
8 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
9 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
10 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
11 ABCC8 NM_001287174.1(ABCC8): c.4159_4161delTCC (p.Ser1387del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417439: 17417441
12 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
13 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
14 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
15 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
16 ABCC8 NM_000352.4(ABCC8): c.4451G> A (p.Gly1484Glu) single nucleotide variant Likely pathogenic rs193922405 GRCh37 Chromosome 11, 17415907: 17415907
17 ABCC8 ABCC8, EX13DEL deletion Pathogenic
18 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
19 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
20 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560
21 ABCC8 NM_000352.4(ABCC8): c.4628T> C (p.Leu1543Pro) single nucleotide variant Likely pathogenic rs72559713 GRCh38 Chromosome 11, 17393109: 17393109
22 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Likely pathogenic rs72559716 GRCh37 Chromosome 11, 17416719: 17416719
23 ABCC8 NM_000352.4(ABCC8): c.3124_3126delACCinsCAGCCAGGAACTG (p.Thr1042Glnfs) indel Likely pathogenic rs786204542 GRCh38 Chromosome 11, 17406924: 17406926
24 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
25 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
26 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
27 ABCC8 NM_000352.4(ABCC8): c.2124_2127delGACT (p.Thr709Terfs) deletion Likely pathogenic rs786204717 GRCh38 Chromosome 11, 17427144: 17427147
28 ABCC8 NM_000352.4(ABCC8): c.2116+2T> C single nucleotide variant Likely pathogenic rs786204676 GRCh38 Chromosome 11, 17427865: 17427865
29 ABCC8 NM_000352.4(ABCC8): c.291-2A> G single nucleotide variant Likely pathogenic rs786204695 GRCh38 Chromosome 11, 17470224: 17470224
30 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
31 ABCC8 NM_000352.4(ABCC8) duplication Likely pathogenic rs797045212 GRCh37 Chromosome 11, 17415822: 17415842
32 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
33 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
34 ABCC8 NM_000352.4(ABCC8): c.1532T> C (p.Leu511Pro) single nucleotide variant Likely pathogenic rs797045206 GRCh37 Chromosome 11, 17464365: 17464365
35 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
36 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
37 ABCC8 NM_000352.4(ABCC8): c.239T> G (p.Met80Arg) single nucleotide variant Likely pathogenic rs797045208 GRCh37 Chromosome 11, 17496484: 17496484
38 ABCC8 NM_000352.4(ABCC8): c.4146T> G (p.Ser1382Arg) single nucleotide variant Likely pathogenic rs886039877 GRCh38 Chromosome 11, 17395904: 17395904
39 ABCC8 NM_000352.4(ABCC8): c.4478G> A (p.Arg1493Gln) single nucleotide variant Likely pathogenic rs746480424 GRCh37 Chromosome 11, 17415880: 17415880
40 ABCC8 NM_000352.4(ABCC8): c.4474delG (p.Ala1492Profs) deletion Likely pathogenic rs1057516655 GRCh37 Chromosome 11, 17415884: 17415884
41 ABCC8 NM_000352.4(ABCC8): c.4353G> A (p.Trp1451Ter) single nucleotide variant Likely pathogenic rs1057516404 GRCh37 Chromosome 11, 17416777: 17416777
42 ABCC8 NM_000352.4(ABCC8): c.4120-1G> T single nucleotide variant Likely pathogenic rs1057517406 GRCh38 Chromosome 11, 17395931: 17395931
43 ABCC8 NM_000352.4(ABCC8): c.4119+1delG deletion Likely pathogenic rs1057517050 GRCh37 Chromosome 11, 17418462: 17418462
44 ABCC8 NM_000352.4(ABCC8): c.4072_4073delAAinsT (p.Lys1358Cysfs) indel Likely pathogenic rs1057516890 GRCh37 Chromosome 11, 17418509: 17418510
45 ABCC8 NM_000352.4(ABCC8): c.4021C> T (p.Gln1341Ter) single nucleotide variant Likely pathogenic rs1057516718 GRCh38 Chromosome 11, 17397014: 17397014
46 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
47 ABCC8 NM_000352.4(ABCC8): c.3650+2T> A single nucleotide variant Likely pathogenic rs1057517274 GRCh38 Chromosome 11, 17402659: 17402659
48 ABCC8 NM_000352.4(ABCC8): c.3574delG (p.Asp1192Metfs) deletion Likely pathogenic rs1057516317 GRCh37 Chromosome 11, 17424284: 17424284
49 ABCC8 NM_000352.4(ABCC8): c.3525C> G (p.Tyr1175Ter) single nucleotide variant Likely pathogenic rs1057516439 GRCh38 Chromosome 11, 17404544: 17404544
50 ABCC8 NM_000352.4(ABCC8): c.3400-1G> A single nucleotide variant Likely pathogenic rs576684889 GRCh38 Chromosome 11, 17404670: 17404670

Expression for Hyperinsulinemic Hypoglycemia, Familial, 1

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