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Gene: Adra2a MGI:87934

Gene Summary

Name:

adrenergic receptor, alpha 2a

Synonyms:

alpha2A-AR, alpha(2A)AR, Adra-2a, Adra-2, alpha2A, alpha2A-adrenergic receptor

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased fasting circulating glucose level	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.50×10^-09
hyperactivity	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.15×10^-05
small testis	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
improved glucose tolerance	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.63×10^-08
abnormal testis morphology	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased startle reflex	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.50×10^-05
decreased prepulse inhibition	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.79×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brown adipose tissue	Section images	heterozygote	50% (1 of 2)
Cecum	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	100% (2 of 2)
Duodenum	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	50% (1 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Gonadal fat pad	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Liver	Section images	heterozygote	50% (1 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Mesenteric lymph node	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	50% (1 of 2)
Sciatic nerve	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	100% (2 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	50% (1 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Vesicular gland	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Cartilage tissue	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

113 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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Human diseases caused by Adra2a 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.

Human diseases associated with Adra2a (0 diseases)
Human diseases predicted to be associated with Adra2a (893 diseases)

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

The table below shows human diseases predicted to be associated to Adra2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Myoclonic Epilepsy, Hartung Type	Generalized myoclonic seizure	OMIM:159600
Intellectual Developmental Disorder, X-Linked 89	Generalized myoclonic seizure	OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Epilepsy, Familial Temporal Lobe, 7	Focal sensory seizure with auditory features	OMIM:616436
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Epilepsy, Familial Temporal Lobe, 4	Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features	OMIM:611631
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure	OMIM:618596
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Myoclonic-Atonic Epilepsy	Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,...	OMIM:616421
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms	OMIM:602066
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hydroxylysinuria	Generalized myoclonic seizure	OMIM:236900
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta...	OMIM:614018
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Carnosinemia	Generalized myoclonic seizure	OMIM:212200
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize...	ORPHA:98818
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ...	OMIM:617665
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure	OMIM:613886
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus	ORPHA:86814
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Schizophrenia 15	Hyperactivity	OMIM:613950
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Generalized myoclonic seizure	ORPHA:79156
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Variegate Porphyria	Tachycardia	OMIM:176200
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs...	ORPHA:2590
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Glycogen Storage Disease Vi	Hypoglycemia	OMIM:232700
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia	ORPHA:293964
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Dravet Syndrome	Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,...	ORPHA:33069
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti...	OMIM:271980
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:617836
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia	Seizure, Generalized non-motor (absence) seizure	ORPHA:98811
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Glycosylphosphatidylinositol Biosynthesis Defect 15	Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni...	OMIM:617810
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Intellectual Developmental Disorder, Autosomal Recessive 47	Focal impaired awareness seizure	OMIM:616193
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General...	OMIM:619913
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ...	ORPHA:3006
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Propionic Acidemia	Hypoglycemia	ORPHA:35
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Intellectual Developmental Disorder, Autosomal Dominant 39	Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc...	ORPHA:411986
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ...	ORPHA:485350
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F...	ORPHA:1942
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul...	ORPHA:263455
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal...	OMIM:617600
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:618170
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav...	ORPHA:3077
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia	OMIM:613870
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure	ORPHA:544254
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure	OMIM:618729
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms	ORPHA:467166
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Muscular Dystrophy, Congenital, With Or Without Seizures	Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni...	OMIM:620166
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-...	ORPHA:2298
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure	ORPHA:576283
Developmental And Epileptic Encephalopathy 110	Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure	OMIM:620149
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo...	OMIM:619927
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus	OMIM:613839
Galactokinase Deficiency	Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia	ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia	OMIM:617872
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure...	ORPHA:168491
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Periventricular Nodular Heterotopia 7	Seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:617201
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Blue Diaper Syndrome	Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Glucose intolerance, Te...	OMIM:235200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc...	ORPHA:95232
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Hyperprolinemia Type 2	Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei...	ORPHA:79101
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac...	OMIM:300624
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Tremor, Dysphagia, Hypothyroidism, Testicular atrophy	OMIM:222300
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia	OMIM:618838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater...	ORPHA:98795
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Hypothyroidism	ORPHA:3198
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia	ORPHA:369
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
2,4-Dienoyl-Coa Reductase Deficiency	Seizure, Myoclonic absence seizure	OMIM:616034
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest	ORPHA:49827
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Tularemia	Tachycardia	ORPHA:3392
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hypoglycemic seizures	ORPHA:199296
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Congenital Generalized Lipodystrophy	Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females	ORPHA:528
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism	OMIM:614613
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure	OMIM:300260
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Mandibuloacral Dysplasia	Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:2457
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc...	ORPHA:71212
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia	OMIM:614702
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Laron Syndrome	Hypoglycemia	ORPHA:633
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General...	ORPHA:79351
Den Hoed-De Boer-Voisin Syndrome	Generalized clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Nocturn...	OMIM:619229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong...	OMIM:616878
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Intellectual Developmental Disorder, Autosomal Dominant 42	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-...	OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure	OMIM:615398
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ...	OMIM:300912
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Pulmonic stenosis	ORPHA:3426
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei...	ORPHA:395
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Dpm1-Cdg	Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar...	OMIM:614921
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Lesch-Nyhan Syndrome	Dystonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dysphagia, Testicular atrophy	OMIM:300322
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure	OMIM:612337
Porphyria Variegata	Hypertension, Tachycardia	ORPHA:79473
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia	OMIM:212140
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju...	ORPHA:449291
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia	OMIM:618835
Kleefstra Syndrome Due To 9Q34 Microdeletion	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:96147
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia	OMIM:618839
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A...	ORPHA:95496
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure...	ORPHA:1934
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Generalized non-motor (absence) seizure	OMIM:617360
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia	ORPHA:79086
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Angelman Syndrome	Infantile spasms, Seizure, Status epilepticus, Myoclonus, Atypical absence seizure, Generalized m...	ORPHA:72
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Propionic Acidemia	Hypoglycemia	OMIM:606054
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms	OMIM:620224
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 53	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:617798
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia	OMIM:251000
Reni Syndrome	Hypoglycemia	OMIM:617575
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a...	ORPHA:505248
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrh...	OMIM:157640
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response	OMIM:620327
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia	OMIM:255120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Graft Versus Host Disease	Tachycardia	ORPHA:39812
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Acute Intermittent Porphyria	Hypertension, Tachycardia	ORPHA:79276
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria	OMIM:231680
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Weaver Syndrome	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:277590
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:369837
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:424
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Genera...	ORPHA:404454
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia	OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Tay-Sachs Disease	Seizure, Typical absence seizure, Focal impaired awareness seizure, Myoclonus	ORPHA:845
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure	ORPHA:258
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Kinsship Syndrome	Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo...	OMIM:619297
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Ketotic hypoglycemia, Fasting hypoglycemia	ORPHA:79240
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Tatton-Brown-Rahman Syndrome	Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Fasting hypoglycemia	ORPHA:264580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Glycogen Storage Disease Ia	Hypoglycemia, Fasting hypoglycemia	OMIM:232200
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:466943
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure	OMIM:618343
Lipodystrophy, Congenital Generalized, Type 1	Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se...	OMIM:608594
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Isolated Complex I Deficiency	Diabetes mellitus, Hypoglycemia	ORPHA:2609
Atypical Werner Syndrome	Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:79474
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Mirage Syndrome	Hypoglycemia	OMIM:617053
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia	OMIM:609015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia	OMIM:251880
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia	OMIM:117550
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia	ORPHA:199299
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia	OMIM:608779
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Lipodystrophy, Congenital Generalized, Type 2	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr...	OMIM:269700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Leigh Syndrome	Hypoglycemia	ORPHA:506
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria	OMIM:227810
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Ogden Syndrome	Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ...	OMIM:300855
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia	ORPHA:90790
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia	ORPHA:66634
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Hypoglycemia	OMIM:256810
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypoglycemia, Neonatal hypoglycemia	OMIM:619418
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia	ORPHA:20
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Glycogen Storage Disease Ib	Hypoglycemia	OMIM:232220
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ...	ORPHA:268261
Sheehan Syndrome	Hypoglycemia	ORPHA:91355
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:513456
Degcags Syndrome	Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis	OMIM:619488
Shigellosis	Hypoglycemia	ORPHA:810
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Sandhoff Disease	Impotence, Exaggerated startle response	OMIM:268800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Holoprosencephaly	Diabetes mellitus, Hypoglycemia	ORPHA:2162
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat...	ORPHA:254892
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia	ORPHA:17
Helsmoortel-Van Der Aa Syndrome	Seizure, Typical absence seizure, Tonic seizure	OMIM:615873
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Seizure, Typical absence seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Seizure, Typical absence seizure	ORPHA:352665
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis	ORPHA:3384
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
Perlman Syndrome	Hypoglycemia	OMIM:267000
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia	ORPHA:79282
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Acute Adrenal Insufficiency	Hypoglycemia	ORPHA:95409
Alg12-Cdg	Recurrent hypoglycemia	ORPHA:79324
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia, Congenital hypothyroidism	OMIM:617527
Glycerol Kinase Deficiency	Hypoglycemia	OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:252010
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia	ORPHA:228308
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Hypoglycemic seizures	ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:620330
Addison Disease	Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
Glycogen Storage Disease Ic	Hypoglycemia	OMIM:232240
Menkes Disease	Hypoglycemia	ORPHA:565
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V...	ORPHA:91347
Tyrosinemia, Type I	Hypoglycemia	OMIM:276700
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Glycosuria	ORPHA:3337
Fructose Intolerance, Hereditary	Hypoglycemia, Glycosuria	OMIM:229600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Focal-onset seizure, Typical absence seizure, Atonic seizure	OMIM:617157
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Attention d...	OMIM:619522
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:289548
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia, Abnormality of the endocrine system, Cryptorchidism, Prec...	ORPHA:438213
Sotos Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ...	ORPHA:821
Beckwith-Wiedemann Syndrome	Hypoglycemia, Neonatal hypoglycemia	ORPHA:116
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Costello Syndrome	Hypoglycemia	OMIM:218040
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
Neurooculorenal Syndrome	Recurrent hypoglycemia	OMIM:620305
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia	OMIM:617248
Liver Disease, Severe Congenital	Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia	OMIM:619991
Acute Liver Failure	Hypoglycemia	ORPHA:90062
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis	ORPHA:137605
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia	OMIM:201750
Mowat-Wilson Syndrome	Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure	ORPHA:2152
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Neonatal hypoglycemia	ORPHA:90794
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal-onset seizure, Seizure, Atypical absence seizure	ORPHA:261552

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 Adra2a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Adra2a.

No publications found that use IMPC mice or data for Adra2a.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Adra2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Adra2a^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Adra2a MGI:87934

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Human diseases caused by Adra2a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data