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Gene: Slc2a8 MGI:1860103

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Gene Summary

Name:
solute carrier family 2, (facilitated glucose transporter), member 8
Synonyms:
D2Ertd44e,  GlutX1,  GLUT8

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating potassium level Slc2a8tm1.1Asch HOM Early adult 6.10×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc2a8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc2a8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ... OMIM:615703
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 concentration, Consti... OMIM:301033
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Large for gestational age, Palpi... ORPHA:324575
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Oligomenorrhea, Abnormal circulating hormone concentratio... ORPHA:280356
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276575
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Large ... ORPHA:276556
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre... ORPHA:79237
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl... OMIM:617885
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hypertension, Diabetes mellitus ORPHA:79084
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, C... ORPHA:90065
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:612526
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulin... ORPHA:263455
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Mpi-Cdg
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, Portal hyper... ORPHA:79319
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Diarr... ORPHA:71212
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Cholesteryl Ester Storage Disease
Adrenal calcification, Diarrhea, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Hypercholesterolemia, Re... ORPHA:401923
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Diabetes m... OMIM:616033
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertension, Hypertriglyceridemia ORPHA:363400
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Abnormal EKG, Elevated... ORPHA:230
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia OMIM:620195
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hyp... ORPHA:3085
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Hypoglycemia, Elev... ORPHA:264580
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Cholesteryl Ester Storage Disease
Diarrhea, Vomiting, Failure to thrive, Adrenal calcification, Increased LDL cholesterol concentra... OMIM:278000
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Angina pecto... ORPHA:412
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Citrullinemia Type Ii
Hypoalbuminemia, Diarrhea, Vomiting, Decreased body mass index, Decreased HDL cholesterol concent... ORPHA:247585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Vomiting, Diarrhea, Recurrent hypoglycemia, Elevated circulating creatine... ORPHA:79240
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Gastroi... ORPHA:247598
Low Phospholipid-Associated Cholelithiasis
Obesity, Hypercholesterolemia, Overweight, Hypertension, Diabetes mellitus ORPHA:69663
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant d... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Ileus, Bradycardia, Elevated circulating... OMIM:613327
Cog4-Cdg
Failure to thrive in infancy, Intermittent diarrhea, Hypercholesterolemia ORPHA:263501
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... OMIM:615962
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Constipation, Hypercholesterolemia, Hype... OMIM:182290
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercho... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea OMIM:602579
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper... ORPHA:567548
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Alstrom Syndrome
Irregular menstruation, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive h... OMIM:203800
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decrease... OMIM:600955
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive... OMIM:176270
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Smith-Magenis Syndrome
Precocious puberty, Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Constipation,... ORPHA:819
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Reduced sperm motility OMIM:612650
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hyperlipidemia, Hype... OMIM:238600
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Lysosomal Acid Lipase Deficiency
Hypotension, Diarrhea, Vomiting, Failure to thrive, Adrenal calcification, Xanthelasma, Primary a... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Inflammation of the large intestine, Diarrhea, Failure to thri... ORPHA:79259
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility ORPHA:320391
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Liddle Syndrome
Hypokalemia ORPHA:526
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia, Hypoglycemia OMIM:620454
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Pulmonary carcinoid tumor, Congestive heart failure, Mitral regurgitation,... ORPHA:363618
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Vomiting, Diarrhea, Failure to thrive, Glucose into... OMIM:606721
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resis... ORPHA:769
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Atypical Werner Syndrome
Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type... ORPHA:79474
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Steinert Myotonic Dystrophy
Diarrhea, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Prolonged PR interval... ORPHA:273
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Abnormality of the thyroi... ORPHA:186
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Failure to thrive, Increased circulating ferritin concentration, Decreased HD... ORPHA:470
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertility, De... OMIM:269700
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia, Primary hypothyroidism OMIM:249310
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Hyperinsulinemia, Decreased fertility in females, Hypertriglyceridemia, Insulin-r... OMIM:608594
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Tricuspid regurgitation, Chronic diarrhea, ... OMIM:300972
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia, Male hypogonadism OMIM:619471
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... ORPHA:391665
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Secondary amenorrhea, Female infertility, Failure to thrive ... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Secondary amenorrhea, Female infertility, Failure to thrive ... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Secondary amenorrhea, Female infertility, Failure to thrive ... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Secondary amenorrhea, Female infertility, Failure to thrive ... ORPHA:99226
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Gastroesophageal reflux, Abnormal circulating calcium-phosphate regulating h... ORPHA:534
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Addison Disease
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hypertriglyceridemia, Hypercholesterolemia,... OMIM:118450
Liver Disease, Severe Congenital
Diarrhea, Vomiting, Failure to thrive, Increased circulating ferritin concentration, Exocrine pan... OMIM:619991
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Elevated circulating creatine kinas... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Gastroesophageal reflux, Failure to t... OMIM:619534
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes mellitus, Oligozoosper... ORPHA:64
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Mercury Poisoning
Hypokalemia ORPHA:330021
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Vomiting, Failure to thrive, Increased circulating prolactin... ORPHA:79318
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Leukocyte Adhesion Deficiency
Vaginitis, Recurrent aphthous stomatitis, Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Carney Complex
Abnormal sperm motility, Decreased fertility in males, Oligozoospermia ORPHA:1359
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc2a8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc2a8.

No publications found that use IMPC mice or data for Slc2a8.

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MGI Allele Allele Type Produced
Slc2a8tm26705(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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