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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 prepulse inhibition	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.79×10^-05
decreased fasting circulating glucose level	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.50×10^-09
decreased startle reflex	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.50×10^-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
hyperactivity	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.66×10^-05
abnormal testis morphology	Adra2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

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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 (914 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	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Epilepsy, Familial Temporal Lobe, 7	Focal sensory seizure with auditory features	OMIM:616436
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Epilepsy, Idiopathic Generalized	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:600669
Epilepsy, Familial Temporal Lobe, 8	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph...	OMIM:616461
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:617924
Intellectual Developmental Disorder, X-Linked 100	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300923
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:604403
Epilepsy, Myoclonic Juvenile	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni...	OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:613863
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:610508
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
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c...	OMIM:620465
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Epilepsy, Familial Temporal Lobe, 4	Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure	OMIM:611631
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:611364
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Febrile Seizures, Familial, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611634
Epilepsy, Familial Temporal Lobe, 1	Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur...	OMIM:600512
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:618482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Developmental And Epileptic Encephalopathy 9	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:300088
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized...	OMIM:609446
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur...	OMIM:618357
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s...	ORPHA:307
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur...	ORPHA:1941
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid...	ORPHA:139426
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Developmental And Epileptic Encephalopathy 19	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:615744
Benign Familial Infantile Epilepsy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca...	ORPHA:306
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Developmental And Epileptic Encephalopathy 94	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ...	OMIM:615369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Developmental And Epileptic Encephalopathy 26	Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:616056
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Dravet Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	OMIM:607208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
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	Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-...	OMIM:614417
Developmental And Epileptic Encephalopathy 74	Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica...	OMIM:618396
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia	ORPHA:293964
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Developmental And Epileptic Encephalopathy 108	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T...	OMIM:620115
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:618596
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:617831
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Developmental And Epileptic Encephalopathy 24	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:615871
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	ORPHA:101039
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1	ORPHA:314802
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,...	OMIM:607682
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Generalized myoclonic seizure, Seizure, Tonic seizure, Atypical absence seizure	OMIM:617771
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	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
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Continuous Spikes And Waves During Sleep	Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ...	ORPHA:725
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon...	OMIM:616346
Epilepsy, Familial Temporal Lobe, 6	Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the...	OMIM:615697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Developmental And Epileptic Encephalopathy 54	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,...	OMIM:617391
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Developmental And Epileptic Encephalopathy 112	Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz...	OMIM:620537
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Myoclonic-Atonic Epilepsy	Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Gen...	OMIM:616421
Seizures, Benign Familial Infantile, 2	Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ...	OMIM:605751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Lissencephaly 10	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur...	OMIM:618873
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609253
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic...	OMIM:614558
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ...	OMIM:618587
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:616409
Developmental And Epileptic Encephalopathy 52	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,...	OMIM:617350
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	ORPHA:79137
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Epilepsy, Familial Temporal Lobe, 2	Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ...	OMIM:608096
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Developmental And Epileptic Encephalopathy 43	Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At...	OMIM:617113
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Focal sensory seizure	OMIM:602066
Epilepsy With Eyelid Myoclonia	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid...	ORPHA:139431
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:618141
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:254800
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon...	ORPHA:86909
Isolated Growth Hormone Deficiency, Type Ia	Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow...	OMIM:262400
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
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
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Lennox-Gastaut Syndrome	Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse...	ORPHA:2382
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Episodic Ataxia, Type 5	Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur...	OMIM:613855
Epilepsy, Progressive Myoclonic, 6	Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei...	OMIM:614018
Generalized Epilepsy With Febrile Seizures-Plus	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene...	ORPHA:36387
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei...	OMIM:619157
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ...	ORPHA:276608
Cataracts, Spastic Paraparesis, And Speech Delay	Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ...	OMIM:619338
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ...	OMIM:614418
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Landau-Kleffner Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc...	ORPHA:98818
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo...	OMIM:615400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, Focal motor seizure, Seizure, Myoclonic seizure, Status ...	OMIM:617665
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ...	OMIM:619606
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,...	ORPHA:276580
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure	OMIM:612621
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Developmental Delay With Or Without Epilepsy	Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera...	OMIM:620540
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Seizure	OMIM:613886
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Myoclonus, Generalized-onset seizure	ORPHA:86814
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Seizures, Benign Familial Infantile, 1	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se...	OMIM:601764
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep...	ORPHA:2590
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Developmental And Epileptic Encephalopathy 6B	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ...	OMIM:619317
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent...	OMIM:613424
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se...	OMIM:615476
Schizophrenia 15	Hyperactivity	OMIM:613950
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl...	ORPHA:276575
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Glycosylphosphatidylinositol Biosynthesis Defect 1	Generalized non-motor (absence) seizure, Atonic seizure	OMIM:610293
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,...	OMIM:262190
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Glucocorticoid Deficiency 3	Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero...	OMIM:609197
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
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Developmental And Epileptic Encephalopathy 109	Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Atonic...	OMIM:620145
Variegate Porphyria	Tachycardia	OMIM:176200
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty...	OMIM:617711
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Autosomal Dominant Epilepsy With Auditory Features	Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera...	ORPHA:101046
Glycogen Storage Disease Vi	Hypoglycemia	OMIM:232700
Bilateral Frontoparietal Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure with gener...	ORPHA:101070
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Insulin resistance, Hyperinsulinemia	OMIM:617885
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Dravet Syndrome	Epilepsia partialis continua, Generalized clonic seizure, Focal-onset seizure, Generalized myoclo...	ORPHA:33069
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dystonia, Dysphagia, Impulsivity	OMIM:620448
Rolandic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F...	ORPHA:1945
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera...	OMIM:619616
Bilateral Generalized Polymicrogyria	Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge...	ORPHA:208447
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:271980
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin...	ORPHA:97279
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure	OMIM:617836
Lipoid Proteinosis Of Urbach And Wiethe	Generalized non-motor (absence) seizure, Seizure	OMIM:247100
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Paroxysmal Exertion-Induced Dyskinesia	Generalized non-motor (absence) seizure, Seizure	ORPHA:98811
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Recurrent ...	ORPHA:276556
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche	OMIM:616033
Glycosylphosphatidylinositol Biosynthesis Defect 15	Generalized non-motor (absence) seizure, Myoclonic seizure, Atonic seizure, Bilateral tonic-cloni...	OMIM:617810
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ...	OMIM:607745
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce...	OMIM:262600
Intellectual Developmental Disorder, Autosomal Recessive 47	Focal impaired awareness seizure	OMIM:616193
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton...	OMIM:619854
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Developmental And Epileptic Encephalopathy 103	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni...	OMIM:619913
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl...	ORPHA:99886
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Pyridoxine-Dependent Epilepsy	Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Seizure, Focal aware motor seizure...	ORPHA:3006
Propionic Acidemia	Hypoglycemia	ORPHA:35
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Mody	Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H...	ORPHA:552
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Intellectual Developmental Disorder, Autosomal Dominant 39	Generalized non-motor (absence) seizure, Focal impaired awareness seizure	OMIM:616521
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:615637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Atonic seizure, Myoclonus, Generalized...	ORPHA:411986
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616281
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Clcn4-Related X-Linked Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Focal tonic seizure, Bilatera...	ORPHA:485350
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Tremor, Decreased fertility, Dysphagia	OMIM:313200
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance...	OMIM:604367
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Developmental And Epileptic Encephalopathy 28	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo...	OMIM:616211
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Morm Syndrome	Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi...	ORPHA:449285
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Myoclonic Epilepsy Of Lafora 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:254780
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior	OMIM:301107
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur...	ORPHA:263455
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Myoclonic-Astatic Epilepsy	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Simp...	ORPHA:1942
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Intellectual Developmental Disorder, Autosomal Dominant 45	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl...	OMIM:617600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom...	OMIM:300257
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei...	OMIM:618170
Childhood Absence Epilepsy	Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu...	ORPHA:64280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
3-Methylglutaconic Aciduria, Type Viia	Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se...	OMIM:619835
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Intellectual Developmental Disorder, X-Linked 30	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:300558
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Macroorchidism, ...	ORPHA:3077
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia	ORPHA:2089
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:619428
Lafora Disease	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra...	ORPHA:501
Nicolaides-Baraitser Syndrome	Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus	ORPHA:3051
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Increase...	OMIM:615962
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure	ORPHA:544254
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Liang-Wang Syndrome	Generalized non-motor (absence) seizure, Status epilepticus	OMIM:618729
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
Tubulinopathy-Associated Dysgyria	Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms	ORPHA:467166
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized non-motor (absence) seizure, Myoclonic seizure, Focal-onset seizure, Generalized-onse...	OMIM:620166
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Satb2-Associated Syndrome Due To A Pathogenic Variant	Typical absence seizure, Seizure	ORPHA:576283
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ...	OMIM:619927
Developmental And Epileptic Encephalopathy 110	Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure	OMIM:620149
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,...	OMIM:608800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism	ORPHA:79237
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia	OMIM:617872
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia	OMIM:613839
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula...	ORPHA:860
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Periventricular Nodular Heterotopia 7	Generalized non-motor (absence) seizure, Seizure, Infantile spasms	OMIM:617201
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ...	OMIM:246200
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent...	OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Late Infantile Neuronal Ceroid Lipofuscinosis	Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Cortical myoclonus, ...	ORPHA:168491
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Recurrent hypoglycemia	ORPHA:94086
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Hyperprolinemia Type 2	Seizure, Generalized-onset seizure, Early onset absence seizures, Atonic seizure, Febrile seizure...	ORPHA:79101
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior	ORPHA:382
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Lissencephaly Due To Lis1 Mutation	Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Atypical absence s...	ORPHA:95232
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Houge-Janssens Syndrome 3	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil...	OMIM:618354
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia	ORPHA:199296
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr...	ORPHA:85327
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,...	ORPHA:26793
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia	OMIM:613205
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l...	OMIM:618718
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia	OMIM:618838
Hemochromatosis, Type 1	Glucose intolerance, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes ...	OMIM:235200
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Stiff Person Spectrum Disorder	Hypothyroidism, Diabetes mellitus, Exaggerated startle response	ORPHA:3198
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia	OMIM:619386
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia	ORPHA:631
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ...	OMIM:614736
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Seizure, Bilater...	ORPHA:98795
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Macroorchidism, Impulsivity	OMIM:300143
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol...	ORPHA:8
Wolfram Syndrome 1	Diabetes insipidus, Tremor, Hypothyroidism, Dysphagia, Diabetes mellitus, Testicular atrophy	OMIM:222300
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ...	ORPHA:75565
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest	ORPHA:49827
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s...	OMIM:301091
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia	ORPHA:369
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Hypertrophic cardiomyopathy	ORPHA:368
Tularemia	Tachycardia	ORPHA:3392
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
2,4-Dienoyl-Coa Reductase Deficiency	Seizure, Myoclonic absence seizure	OMIM:616034
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in...	ORPHA:57777
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Hyperactivity, Congenital hypothyroidism, Cryptorchidism, Diabetes mellitus	OMIM:614613
Congenital Generalized Lipodystrophy	Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Precocious puberty in females	ORPHA:528
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc...	ORPHA:71212
Mandibuloacral Dysplasia	Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	ORPHA:2457
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Tonic seizure	OMIM:300260
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia	OMIM:614702
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypoglycemia, Diabetes mellitus	OMIM:616026
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Laron Syndrome	Hypoglycemia	ORPHA:633
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Carney Triad	Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia	ORPHA:139411
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em...	ORPHA:79351
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu...	OMIM:614207
Den Hoed-De Boer-Voisin Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc...	OMIM:619229
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 42	Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Seizure,...	OMIM:616973
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms...	ORPHA:457351
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid...	ORPHA:769
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Generalized non-motor (absence) seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:615398
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia	ORPHA:35708
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Malignant Hyperthermia Of Anesthesia	Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou...	ORPHA:423
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater...	OMIM:300912
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	ORPHA:435638
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response	ORPHA:309246
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Double Outlet Right Ventricle	Pulmonic stenosis, Tachycardia, Heart murmur	ORPHA:3426
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperglycemia	OMIM:615453
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Dpm1-Cdg	Generalized myoclonic seizure, Seizure, Early onset absence seizures, Atonic seizure, Generalized...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type It	Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac death, Dilated cardiomyopath...	OMIM:614921
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz...	ORPHA:395
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Diabetes mellitus	ORPHA:391408
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism...	ORPHA:449291
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Ventricular...	OMIM:620519
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e...	ORPHA:94093
Maple Syrup Urine Disease, Type Ia	Hypoglycemia	OMIM:248600
Intellectual Developmental Disorder, Autosomal Dominant 22	Generalized non-motor (absence) seizure, Seizure	OMIM:612337
Solitary Fibrous Tumor	Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia	ORPHA:2126
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:615802
Classic Galactosemia	Hypoglycemia	ORPHA:79239
Lesch-Nyhan Syndrome	Dystonia, Opisthotonus, Dysphagia, Self-injurious behavior, Choreoathetosis, Testicular atrophy	OMIM:300322
Carnitine Deficiency, Systemic Primary	Recurrent hypoglycemia, Impaired gluconeogenesis	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia	OMIM:618835
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia	OMIM:618839
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ...	ORPHA:99819
Cholera	Tachycardia, Hypovolemic shock, Hypotension	ORPHA:173
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Kleefstra Syndrome Due To 9Q34 Microdeletion	Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus	ORPHA:96147
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Infertility, Hypothyroidism, Hyperglycemia, Hypogonadotro...	ORPHA:465508
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Early Infantile Epileptic Encephalopathy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure...	ORPHA:1934
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar...	ORPHA:95496
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia	ORPHA:348
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock	ORPHA:36234
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Acquired Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:79086
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S...	ORPHA:340
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp...	ORPHA:2088
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Generalized non-motor (absence) seizure, Seizure	OMIM:617360
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Eisenmenger Syndrome	Right-to-left shunt, Atrial fibrillation, Elevated jugular venous pressure, Supraventricular arrh...	ORPHA:97214
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ...	ORPHA:424
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Angelman Syndrome	Generalized myoclonic seizure, Seizure, Infantile spasms, Atypical absence seizure, Atonic seizur...	ORPHA:72
Propionic Acidemia	Hypoglycemia	OMIM:606054
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:620224
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Long-Olsen-Distelmaier Syndrome	Hypoglycemia	OMIM:620609
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Crimean-Congo Hemorrhagic Fever	Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal...	ORPHA:99827
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus	OMIM:151660
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Tachycardia	ORPHA:98849
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:617798
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Developmental And Epileptic Encephalopathy 100	Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp...	OMIM:619777
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Multiple Mitochondrial Dysfunctions Syndrome 7	Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Dystonia, Hyperglycemia, Hyp...	OMIM:620423
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge...	OMIM:608643
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia	OMIM:605911
Reni Syndrome	Hypoglycemia	OMIM:617575
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Resting tremor, Secondary amenorrhea, Hypergonadotropic hypogona...	OMIM:157640
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic ...	ORPHA:505248
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cryptorchidism	OMIM:620327
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas...	ORPHA:3464
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus	OMIM:248370
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Immunodeficiency 10	Hypoglycemia	OMIM:612783
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia	OMIM:251000
Graft Versus Host Disease	Tachycardia	ORPHA:39812
Prader-Willi Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci...	OMIM:176270
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype...	OMIM:203800
Leprechaunism	Hyperinsulinemia, Fasting hypoglycemia, Increased circulating renin level, Central hypothyroidism...	ORPHA:508
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
D-Glyceric Aciduria	Hypoglycemia	OMIM:220120
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Hypoglycemia	OMIM:231680
Weaver Syndrome	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:277590
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure...	ORPHA:369837
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia	ORPHA:134
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Focal e...	ORPHA:404454
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemia, Pituitary prola...	OMIM:131100
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia	OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Hypoglycemia	OMIM:619055
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Tay-Sachs Disease	Typical absence seizure, Seizure, Focal impaired awareness seizure, Myoclonus	ORPHA:845
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Agitation, Tremor, Exaggerated startle response	OMIM:618056
Pancreatic And Cerebellar Agenesis	Hypoglycemia, Diabetes mellitus, Hyperglycemia	OMIM:609069
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia	OMIM:620646
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia	OMIM:608836
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure	ORPHA:258
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Hypoglycemia	ORPHA:480864
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile...	OMIM:620455
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo...	ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98853
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
Kinsship Syndrome	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo...	OMIM:619297
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,...	ORPHA:404443
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia	ORPHA:457485
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia	ORPHA:79240
Glycogen Storage Disease Ia	Hypoglycemia, Fasting hypoglycemia	OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Fasting hypoglycemia	ORPHA:264580
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:466943
Methylmalonic Aciduria, Cblb Type	Hypoglycemia	OMIM:251110
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia	OMIM:255120
X-Linked Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98863
Lipodystrophy, Congenital Generalized, Type 1	Decreased serum leptin, Hyperinsulinemia, Diabetes mellitus, Insulin-resistant diabetes mellitus ...	OMIM:608594
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Seizure	OMIM:618343
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia	OMIM:620454
Isolated Complex I Deficiency	Hypoglycemia, Diabetes mellitus	ORPHA:2609
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Mirage Syndrome	Hypoglycemia	OMIM:617053
Atypical Werner Syndrome	Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Glycosuria, Hyperglycemia, Type...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia	OMIM:620451
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia	OMIM:609015
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Sotos Syndrome	Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Lipodystrophy, Congenital Generalized, Type 2	Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes m...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Iie	Hypoglycemia	OMIM:608779
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia	ORPHA:445038
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction	OMIM:620504
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp...	ORPHA:786
Fanconi-Bickel Syndrome	Glycosuria, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:227810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia	OMIM:251880
Steinert Myotonic Dystrophy	Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r...	ORPHA:273
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Ogden Syndrome	Supraventricular tachycardia, Premature ventricular contraction, Pulmonary arterial hypertension,...	OMIM:300855
Leigh Syndrome	Hypoglycemia	ORPHA:506
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Pituitary Apoplexy	Hypoglycemia	ORPHA:95613
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia	ORPHA:90790
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia	ORPHA:66634
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia	OMIM:616271
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure	ORPHA:466950
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Supraventricular arrhythmia, Hype...	ORPHA:280365
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hypoglycemia, Recurrent hypoglycemia	OMIM:256810
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia	ORPHA:20
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co...	OMIM:620066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Neonatal hypoglycemia, Hypoglycemia	OMIM:619418
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Congenital Syphilis	Hypoglycemia	ORPHA:499009
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperglycemia	ORPHA:3008
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Prolonged QT interval	ORPHA:1772
Degcags Syndrome	Pulmonic stenosis, Pulmonary arterial hypertension, Tachycardia	OMIM:619488
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ...	ORPHA:268261
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Shigellosis	Hypoglycemia	ORPHA:810
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Sheehan Syndrome	Hypoglycemia	ORPHA:91355
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Glycogen Storage Disease Ib	Hypoglycemia	OMIM:232220
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,...	ORPHA:99228
Monosomy X	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,...	ORPHA:99226
Turner Syndrome	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,...	ORPHA:881
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:513456
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Atrial fibrillation, Ventricular arrhythmia, Arrhythm...	ORPHA:254892
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Holoprosencephaly	Hypoglycemia, Diabetes mellitus	ORPHA:2162
Plague	Hematemesis, Arrhythmia, Hypotension, Tachycardia	ORPHA:707
Helsmoortel-Van Der Aa Syndrome	Typical absence seizure, Seizure, Tonic seizure	OMIM:615873
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia	ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Sandhoff Disease	Impotence, Exaggerated startle response	OMIM:268800
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart valve physiology, Aortic regurgitation, Tachycardia	ORPHA:3384
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia	OMIM:124000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Typical absence seizure, Seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Typical absence seizure, Seizure	ORPHA:352665
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Perlman Syndrome	Hypoglycemia	OMIM:267000
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Exaggerated startle response, Congenital hypothyroidism	OMIM:617527
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus	ORPHA:2636
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response	ORPHA:521426
Alg12-Cdg	Recurrent hypoglycemia	ORPHA:79324
Acute Adrenal Insufficiency	Hypoglycemia	ORPHA:95409
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia	ORPHA:79282
Marfan Syndrome	Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia	OMIM:252010
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Supraventricular tachycardia	OMIM:181270
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range...	OMIM:620330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Hypoglycemia	ORPHA:79259
Glycogen Storage Disease Ic	Hypoglycemia	OMIM:232240
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:612474
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia	ORPHA:228308
Addison Disease	Type I diabetes mellitus, Hypoglycemia	ORPHA:85138
Menkes Disease	Hypoglycemia	ORPHA:565
Glycerol Kinase Deficiency	Hypoglycemia	OMIM:307030
Fructose Intolerance, Hereditary	Glycosuria, Hypoglycemia	OMIM:229600
Tyrosinemia, Type I	Hypoglycemia	OMIM:276700
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr...	ORPHA:91347
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia	ORPHA:3337
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Dysphagia, M...	OMIM:619522
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Atonic seizure, Typical absence seizure, Focal-onset seizure	OMIM:617157
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure	ORPHA:500150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoglycemia	OMIM:613658
Sarcoidosis	Heart block, Abnormal cardiac ventricular function, Portal hypertension, Arrhythmia, Ventricular ...	ORPHA:797
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Deeah Syndrome	Neonatal hypoglycemia	OMIM:619004
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Exaggerated startle response, Stereotypical hand wringing, P...	ORPHA:438213
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri...	ORPHA:99125
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia	ORPHA:137605
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
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Sotos Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	ORPHA:821
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperglycemia	OMIM:220111
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hypoglycemia	ORPHA:116
Costello Syndrome	Hypoglycemia	OMIM:218040
Neurooculorenal Syndrome	Recurrent hypoglycemia	OMIM:620305
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Liver Disease, Severe Congenital	Hyperinsulinemic hypoglycemia, Abnormal circulating thyroid hormone concentration	OMIM:619991
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia	OMIM:617248
Acute Liver Failure	Hypoglycemia	ORPHA:90062
Marshall-Smith Syndrome	Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension	OMIM:602535
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response	OMIM:618367
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Alström Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia	OMIM:201750
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Elevated circul...	ORPHA:79318
Mowat-Wilson Syndrome	Status epilepticus, Atypical absence seizure, Seizure, Focal-onset seizure	ORPHA:2152
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	Atypical absence seizure, Seizure, Focal-onset seizure	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Atypical absence seizure, Seizure, Focal-onset 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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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 21.0 Data