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Gene: Cacna1b MGI:88296

Gene Summary

Name:

calcium channel, voltage-dependent, N type, alpha 1B subunit

Synonyms:

Cav2.2, Cchn1a, alpha(1B)

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
increased exploration in new environment	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.94×10^-05
abnormal gait	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.29×10^-10
abnormal locomotor behavior	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.46×10^-05
hyperactivity	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.45×10^-18
decreased thigmotaxis	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.79×10^-10
decreased fasting circulating glucose level	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.45×10^-05
decreased grip strength	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.62×10^-09
decreased anxiety-related response	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.84×10^-13
abnormal behavior	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.97×10^-09

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	50% (1 of 2)
Forebrain	N/A	homozygote	50% (1 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	0.0% (0 of 2)

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%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

11 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Cacna1b 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 Cacna1b (2 diseases)
Human diseases predicted to be associated with Cacna1b (875 diseases)

The table below shows human diseases associated to Cacna1b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements		Inability to walk, Bruxism, Choreoathetosis, Stereotypical hand wringing	OMIM:618497
Non-Specific Early-Onset Epileptic Encephalopathy		Mental deterioration, Difficulty walking, Attention deficit hyperactivity disorder, Ataxia, Unste...	ORPHA:442835

The table below shows human diseases predicted to be associated to Cacna1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole...	ORPHA:369873
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Hypertriglyceridemia, Sudden cardiac death, Hyper...	OMIM:610947
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus	OMIM:608320
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te...	ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Hyperactivity, Irritability	OMIM:616657
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Gait ataxia, Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess...	ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Congestive heart failure, Obesity, Type II diabetes mellitus, Hypercholestero...	OMIM:615703
Epilepsy, Progressive Myoclonic, 12	Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ...	OMIM:619191
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet...	ORPHA:99886
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Hartnup Disorder	Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Palpitations, Type II diabetes mellitus, Increased glucagon level	OMIM:619290
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Riboflavin Transporter Deficiency	Hypogonadism, Abnormal cranial nerve morphology, Hypertension, Aggressive behavior, Cachexia, Fac...	ORPHA:97229
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait	OMIM:301107
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Progressive Supranuclear Palsy	Blepharospasm, Memory impairment, Depression, Emotional lability, Tremor, Irritability, Cognitive...	ORPHA:683
Lennox-Gastaut Syndrome	Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity	ORPHA:2382
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,...	ORPHA:280356
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Landau-Kleffner Syndrome	Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ...	ORPHA:98818
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Juvenile Huntington Disease	Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres...	ORPHA:248111
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste...	ORPHA:101016
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Glycine Encephalopathy 1	Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Arrhythmia, Weight loss, Abnormal autonomic nervous syste...	ORPHA:85447
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity	OMIM:619470
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Tachycardia, Hypertension, A...	OMIM:613870
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus, Permanent atrial fibrillatio...	ORPHA:31825
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity	OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,...	OMIM:615516
Optic Atrophy 16	Paroxysmal tachycardia, Temporal optic disc pallor	OMIM:620629
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left...	OMIM:540000
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Meningioma	Increased circulating prolactin concentration, Emotional lability, Neoplasm of the posterior pitu...	ORPHA:2495
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypertension	ORPHA:79084
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Mitchell Syndrome	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:618960
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Hypo...	ORPHA:398069
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity, Ataxia	OMIM:615924
Epilepsy, Familial Focal, With Variable Foci 4	Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology	OMIM:617935
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertriglyceridemia, Hypertension, Decreased serum leptin, Diabetic...	OMIM:615238
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology	OMIM:598500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Narcolepsy 7	Narcolepsy, Obesity, Type II diabetes mellitus	OMIM:614250
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity, Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism	OMIM:619737
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl...	ORPHA:263455
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton...	ORPHA:330001
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Tetanus	Autonomic bladder dysfunction, Dysphagia, Abnormal autonomic nervous system physiology, Bradycard...	ORPHA:3299
Caribbean Parkinsonism	Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:97355
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:101046
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Kleine-Levin Syndrome	Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Sweet crav...	ORPHA:33543
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Hypertension	ORPHA:363400
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Hyperlipidemia, Hypertension, Abdominal obesity, Diabetes mellitus	OMIM:615980
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen...	OMIM:613239
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Exaggerated startle response	OMIM:184850
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:609425
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia...	OMIM:617885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Dysphagia, Cardiomyopathy	OMIM:255100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Beta-Propeller Protein-Associated Neurodegeneration	Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Pure Autonomic Failure	Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autono...	ORPHA:441
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ...	OMIM:609152
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab...	ORPHA:90064
Variegate Porphyria	Tachycardia	OMIM:176200
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ...	OMIM:618718
Atypical Rett Syndrome	Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust...	ORPHA:3095
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Hyperlipidemia, Supravalvular aortic stenosis, Cardi...	ORPHA:439232
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Narcolepsy Type 1	Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Syncope, Re...	ORPHA:2073
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Snakebite Envenomation	Epistaxis, Hypotension, Neuromuscular dysphagia, Cardiogenic shock, Pseudobulbar paralysis, Hypop...	ORPHA:449285
Phenylketonuria	Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:261600
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Failure to thrive, Hyperinsulinemia, Bradycardia, Prolonged QT interval, Hype...	OMIM:613327
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Anorexia, Cardiac arrest,...	ORPHA:49827
Multiple System Atrophy	Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf...	ORPHA:102
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is...	ORPHA:90065
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hypertension, Hypothyroidism, Hypercholesterolemia, Ab...	ORPHA:77296
Multiple System Atrophy, Cerebellar Type	Orthostatic syncope, Neuromuscular dysphagia, Autonomic bladder dysfunction, Orthostatic hypotens...	ORPHA:227510
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen...	OMIM:201910
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra...	ORPHA:398079
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo...	ORPHA:26793
Multiple System Atrophy, Parkinsonian Type	Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf...	ORPHA:98933
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Gcgr-Related Hyperglucagonemia	Glucagonoma, Increased glucagon level	ORPHA:438274
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology	ORPHA:168593
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Skin-picking, Attention...	ORPHA:485405
Myotonic Dystrophy 2	Insulin insensitivity, Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricul...	OMIM:602668
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio...	OMIM:619827
Alobar Holoprosencephaly	Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp...	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp...	ORPHA:220386
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Type II diabetes mellitus, Hypertriglyceridemia, Hypertension, Myocardial infarction	OMIM:618620
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Premature ventricular contract...	OMIM:212138
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension	OMIM:620734
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo...	OMIM:615830
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiac shunt, A...	ORPHA:860
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity	ORPHA:500180
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Pediatric-Onset Graves Disease	Graves disease, Polydipsia, Failure to thrive, Goiter, Puberty and gonadal disorders, Congestive ...	ORPHA:525731
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling...	OMIM:620445
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis	OMIM:620023
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating...	OMIM:231550
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Hypertension, Aggress...	ORPHA:449291
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia	OMIM:614498
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:1192
Rett Syndrome	Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Abnormal autonom...	ORPHA:778
Juvenile Neuronal Ceroid Lipofuscinosis	Motor stereotypy, Tachycardia, Dysphagia, Optic disc pallor	ORPHA:79264
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Dysphagia, Cerebral ...	ORPHA:136
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Delayed puberty...	OMIM:301500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous sy...	ORPHA:83601
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe...	OMIM:615812
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit...	ORPHA:66529
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Familial Hyperaldosteronism Type I	Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyper...	ORPHA:403
Leber Hereditary Optic Neuropathy	Optic atrophy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Preeclampsia	Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, In...	ORPHA:275555
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Hypothyroidism, Ventricula...	OMIM:601005
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ...	ORPHA:293987
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Alexander Disease	Precocious puberty, Self-injurious behavior, Hypotension, Failure to thrive, Hypertension, Hypoth...	ORPHA:58
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Usmani-Riazuddin Syndrome, Autosomal Dominant	Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:619467
Lessel-Kubisch Syndrome	Hypogonadism, Hypertension	OMIM:618681
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Cranial nerve compre...	ORPHA:94080
Developmental And Epileptic Encephalopathy 109	Crouch gait, Gait ataxia, Hyperactivity	OMIM:620145
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Optic atrophy, Type II diabetes mellitus	OMIM:604121
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171420
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Serotonin Syndrome	Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Restlessness, Hypertension...	ORPHA:43116
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to...	ORPHA:137675
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus, Restless legs	ORPHA:157835
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness...	ORPHA:100924
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Aggressive behavior, Broad-based gait, Hyperactivity	ORPHA:457260
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Hypoglycemia, Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomy...	OMIM:616878
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Gastrointestinal hemorrhage, Pituitary adenoma, Increased c...	ORPHA:913
Graves Disease	Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Polyphagia, Weig...	OMIM:275000
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of peripheral nerve conduction, Hyperactivity, Abnormal autonomic nerv...	ORPHA:35069
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension	OMIM:605635
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, In...	ORPHA:251274
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Congestive heart ...	OMIM:617253
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Porphyria Variegata	Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension, Abnormal autonomic nervo...	ORPHA:79473
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Al Amyloidosis	Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy...	ORPHA:85443
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Erythermalgia, Primary	Palpitations, Abnormal autonomic nervous system physiology	OMIM:133020
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Hyperlysinemia, Type I	Short attention span, Dysdiadochokinesis, Hyperactivity, Cognitive impairment	OMIM:238700
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er...	OMIM:169500
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Tenorio Syndrome	Hypoinsulinemia, Syncope, Raynaud phenomenon, Hypoglycemia	OMIM:616260
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive...	OMIM:610042
X-Linked Adrenoleukodystrophy	Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H...	ORPHA:43
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int...	ORPHA:404
Apparent Mineralocorticoid Excess	Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r...	ORPHA:320
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A...	ORPHA:168491
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Wolfram Syndrome	Optic atrophy, Male hypogonadism, Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Hypogo...	ORPHA:3463
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu...	OMIM:219090
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla...	ORPHA:369929
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia	OMIM:603278
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly...	ORPHA:79085
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hype...	ORPHA:231580
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	OMIM:256800
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty, Dys...	ORPHA:447896
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnorm...	ORPHA:79086
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati...	ORPHA:90795
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti...	OMIM:608643
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Compulsi...	ORPHA:93256
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hydroxykynureninuria	Tachycardia, Hypotension, Motor stereotypy	ORPHA:79155
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Hypoglycemia, Decreased serum insulin-like ...	OMIM:614921
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Hypertension, Arrhythmia, Abnormal autonomi...	ORPHA:94093
Solitary Fibrous Tumor	Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia	ORPHA:2126
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Fa...	ORPHA:1329
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Stiff Skin Syndrome	Hypertension, Type II diabetes mellitus	ORPHA:2833
Mercury Poisoning	Tachycardia, Hypotension, Hypertension, Anorexia	ORPHA:330021
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Agitation	OMIM:617903
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Moyamoya Disease 6 With Or Without Achalasia	Hypertension, Ischemic stroke, Dysphagia, Raynaud phenomenon	OMIM:615750
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypotension, Hypertension	OMIM:611489
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro...	OMIM:300845
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Mental deterioration, Low frustration tolerance, Self-mutilation, Stere...	ORPHA:163681
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Alopecia Universalis	Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension	ORPHA:701
Alternating Hemiplegia Of Childhood	Failure to thrive, Oral-pharyngeal dysphagia, Cardiomyopathy, Abnormal T-wave, Cardiac conduction...	ORPHA:2131
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D...	ORPHA:280679
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:620242
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Vestibular areflexia, Abnormal autonomic nervous...	OMIM:614575
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Abnormal autonomic nervous system physiology	OMIM:300894
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H...	ORPHA:466677
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Failure to thrive, Paroxysmal atrial tac...	OMIM:613205
Lead Poisoning	Decreased circulating osteocalcin level, Abnormality of the autonomic nervous system, Attention d...	ORPHA:330015
Intellectual Developmental Disorder, Autosomal Dominant 45	Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl...	OMIM:617600
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Renal Nutcracker Syndrome	Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tach...	ORPHA:71273
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Hypoketotic hypoglycemia, Arrhythmia, Ventricular tachycardia, Fasti...	ORPHA:159
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypertension	OMIM:613677
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Sneddon Syndrome	Ischemic stroke, Hypertension, Facial palsy, Cerebral hemorrhage	OMIM:182410
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait...	ORPHA:98794
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301013
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Fatal Familial Insomnia	Weight loss, Dysphagia, Abnormal autonomic nervous system physiology	OMIM:600072
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive	OMIM:616069
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata...	OMIM:617865
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli...	ORPHA:2298
Inherited Creutzfeldt-Jakob Disease	Abnormal autonomic nervous system physiology, Vestibular nystagmus	ORPHA:282166
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Alexander Disease Type Ii	Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:363722
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Tularemia	Tachycardia	ORPHA:3392
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy...	ORPHA:251992
Glutaric Aciduria Iii	Hypertension, Hyperthyroidism, Failure to thrive, Goiter	OMIM:231690
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Prolonged QT interval, Atria...	ORPHA:31826
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia	OMIM:229700
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171300
Beta-Ketothiolase Deficiency	Hypotension, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Hypertension, Agi...	ORPHA:134
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Gait ataxia, Emotional lability, Dysmetria, Short attention span, Hyperacti...	OMIM:610217
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Tachycardia, Neonatal hypoglycemia, Fasting hypoglycemia	ORPHA:348
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Tachycardia	ORPHA:264675
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Short ...	ORPHA:139396
Haddad Syndrome	Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s...	ORPHA:99803
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	OMIM:105210
Low Phospholipid-Associated Cholelithiasis	Obesity, Hypercholesterolemia, Overweight, Hypertension, Diabetes mellitus	ORPHA:69663
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Small for gestational age	OMIM:616733
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cranial nerve compres...	ORPHA:276621
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Decreased circulating aldosterone level, Hy...	OMIM:218030
Spinal Cord Injury	Abnormal autonomic nervous system physiology, Allodynia	ORPHA:90058
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Young-Onset Parkinson Disease	Impulsivity, Restless legs, Abnormal autonomic nervous system physiology, Agitation	ORPHA:2828
Narcolepsy 3	Narcolepsy	OMIM:609039
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Abnormal vestibulo-ocular reflex, Dysphagia, Abnormal autonomi...	ORPHA:247234
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Failure to thrive, Heart murmur, Hypoparathyroidism, Tachycardi...	ORPHA:3426
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he...	ORPHA:90068
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cranial nerve compres...	ORPHA:29072
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Narcolepsy 1	Narcolepsy	OMIM:161400
Gaisböck Syndrome	Elevated diastolic blood pressure, Obesity, Hypertension, Hypovolemia, Angina pectoris, Hyperchol...	ORPHA:90041
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly...	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:435651
Machado-Joseph Disease	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:109150
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Familial Dysautonomia	Optic atrophy, Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Gitelman Syndrome	Hypotension, Polydipsia, Failure to thrive, Palpitations, Salt craving, Ventricular tachycardia, ...	OMIM:263800
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response	OMIM:616881
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Atrioventricular block, Premature thelarche, Papilledema, Nodular goite...	ORPHA:371428
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Failure to thrive, Glucose intolerance, Arrhythmia, Left bundle branch bloc...	OMIM:610131
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Rhabdoid Tumor	Weight loss, Hypertension, Internal hemorrhage	ORPHA:69077
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive...	ORPHA:280365
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Werner Syndrome	Insulin resistance, Congestive heart failure, Hypogonadism, Slender build, Thyroid carcinoma, Typ...	ORPHA:902
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Increased circulating gonadotropin level, Hypertension, ...	ORPHA:347
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Congestive heart failure, Transient ischemic attack, Abnormality of thyroid ph...	ORPHA:1830
Extracranial Carotid Artery Aneurysm	Vasculitis, Arteritis, Cerebral ischemia, Hypertension, Subarachnoid hemorrhage, Diabetes mellitus	ORPHA:494424
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Amyloidosis, Hereditary Systemic 2	Hypertension	OMIM:105200
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Cholera	Tachycardia, Hypotension, Hypovolemic shock, Hypoglycemia	ORPHA:173
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ...	OMIM:203800
Overlap Myositis	Hypertension, Pulmonary arterial hypertension, Raynaud phenomenon, Dysphagia, Diabetes mellitus	ORPHA:206572
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Polyarteritis Nodosa	Cardiomyopathy, Weight loss, Raynaud phenomenon, Hypertension, Pericarditis	ORPHA:767
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Caudal Regression Syndrome	Hypertension, Maternal diabetes, Impulsivity	ORPHA:3027
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive primary hy...	ORPHA:231632
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Aicardi-Goutieres Syndrome 9	Optic atrophy, Failure to thrive, Portal hypertension, Self-mutilation, Hypothyroidism, Weight lo...	OMIM:619487
Poliomyelitis	Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Fatigable weakness of r...	ORPHA:2912
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Motor stereotypy, Abnormal autonomic nervous system physiology, Optic nerve hypoplasia	ORPHA:300570
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Pulmonary arterial hyper...	OMIM:615474
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Hypertensio...	OMIM:606721
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Crimean-Congo Hemorrhagic Fever	Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adrenal insufficiency, H...	ORPHA:99827
Juvenile Paget Disease	Optic atrophy, Hypertension	ORPHA:2801
Fanconi Renotubular Syndrome 5	Hypertension, Glycosuria	OMIM:618913
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Sepsis In Premature Infants	Hypotension, Decreased body weight, Bradycardia, Tachycardia, Small for gestational age	ORPHA:90051
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Capillary leak, Decrease...	ORPHA:340
Monosomy 18P	Hypothyroidism, Hypertension	ORPHA:1598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Agitation, Tremor, Exaggerated startle response	OMIM:618056
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Neuroblastoma	Hypertension, Elevated circulating catecholamine level, Weight loss, Horner syndrome	ORPHA:635
Livedoid Vasculopathy	Graves disease, Ischemic stroke, Telangiectasia of the skin, Abnormality of the peripheral nervou...	ORPHA:542643
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Hypertension	OMIM:617763
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Glycogen Storage Disease Ia	Hypoglycemia, Xanthelasma, Hyperlipidemia, Delayed puberty, Fasting hypoglycemia, Hypertension	OMIM:232200
Bardet-Biedl Syndrome 1	Insulin resistance, Hypogonadism, Obesity, Hypertension, Aganglionic megacolon, Nephrogenic diabe...	OMIM:209900
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Fabry Disease	Optic atrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bun...	ORPHA:324
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Prolonged PR interval, S...	ORPHA:273
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Polydipsia, Irritability	ORPHA:30925
Infant Botulism	Hypotension, Dysphagia, Anorexia, Cardiac arrest, Hypertension	ORPHA:178478
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Ramos-Arroyo Syndrome	Self-mutilation, Decreased body weight, Aganglionic megacolon, Severe failure to thrive, Abnormal...	ORPHA:1051
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Aggressive behavior, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Cerebr...	OMIM:242900
Bardet-Biedl Syndrome 17	Hypogonadism, Polydipsia, Cognitive impairment	OMIM:615994
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardia...	OMIM:277400
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm...	ORPHA:209905
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Coach Syndrome 2	Hypertension	OMIM:619111
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bruxism, Hypothyroidism, Failure to thrive, Abnormal autonomic nervous system physiology	ORPHA:453499
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hypertension, Ag...	OMIM:609136
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion...	OMIM:202010
Melkersson-Rosenthal Syndrome	Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Hypertension, Small for gestational age	OMIM:613320
C3 Glomerulopathy	Hypertension	ORPHA:329918
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, Small for ge...	OMIM:617021
Wagro Syndrome	Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Hypertension, Agitation	OMIM:612469
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Sinus tachycardia, Mitral regurgitation, Hypertension, Pulmonary arterial hype...	OMIM:614008
X-Linked Creatine Transporter Deficiency	Athetosis, Hyperactivity, Self-mutilation, Ataxia	ORPHA:52503
Nmda Receptor Encephalitis	Neoplasm of the thymus, Orthostatic tachycardia, Orthostatic hypotension, Abnormal autonomic nerv...	ORPHA:217253
Central Diabetes Insipidus	Depression, Diabetes insipidus, Polydipsia, Anorexia	ORPHA:178029
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Hypertension, Myocardial ...	ORPHA:892
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Liddle Syndrome 2	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618126
Acute Intermittent Porphyria	Tachycardia, Restlessness, Hypertension, Pseudobulbar paralysis	ORPHA:79276
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa...	ORPHA:183
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Tricuspid regurgitation, Obesity, Mitral regurgitation, Aggressive behav...	ORPHA:404443
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Exaggerated startle response	OMIM:617864
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hyperaldosteronism, Salt craving, Hypertension, Increased circulating renin level	OMIM:612780
Neuroblastoma, Susceptibility To, 1	Horner syndrome, Weight loss, Hypertension, Failure to thrive	OMIM:256700
Liddle Syndrome 1	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:177200
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Failure to thrive, Goiter, Reduced left ventricular ejection fraction, Gl...	ORPHA:254892
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre...	ORPHA:99889
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Dilated cardiomyopathy, Head-banging, Decreased amplitude o...	ORPHA:2388
Tick-Borne Encephalitis	Abnormal cranial nerve morphology, Fatigable weakness of respiratory muscles, Abnormal glossophar...	ORPHA:297
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Parkinson Disease, Late-Onset	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:168600
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Bruxism, Choreoathetosis, Stereotypical hand wringing	OMIM:618497
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Weight loss, Syncope	ORPHA:98849
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Polyphagia, Obesity, Delayed puberty	ORPHA:251004
Ochoa Syndrome	Hypertension, Polydipsia	ORPHA:2704
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d...	ORPHA:95513
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mi...	ORPHA:505248
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Abnormal autonomic nervous system physiology	ORPHA:478029
Imerslund-Gräsbeck Syndrome	Tachycardia, Weight loss, Failure to thrive	ORPHA:35858
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ...	OMIM:234200
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Hypoglycemia, Shock, Bradycardia, Capillary leak, Aggres...	ORPHA:99826
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve...	OMIM:620519
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Decreased heart rate variability, Abnormal autonomic nervous system physio...	OMIM:209880
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Dysphagia, Abnormal autonomic nervous system physiology	OMIM:601559
Renal Hypoplasia, Bilateral	Small for gestational age, Hypertension, Glycosuria, Failure to thrive	ORPHA:97362
Graft Versus Host Disease	Tachycardia, Failure to thrive	ORPHA:39812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Obesity, Hypertriglyce...	ORPHA:98855
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Hypothyroidism, Telangi...	ORPHA:758
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo...	ORPHA:95699
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pulmonary venous hyperte...	ORPHA:79259
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia	OMIM:620504
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Co...	ORPHA:247691
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Parkinsonian-Pyramidal Syndrome	Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:171695
Argininemia	Spastic gait, Irritability, Hyperactivity, Anorexia	OMIM:207800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Optic atrophy, Portal hypertension,...	OMIM:615688
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Failure to thrive, Abnormality of peripheral nerve conduction, ...	ORPHA:90321
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Acute Transverse Myelitis	Autonomic bladder dysfunction, Subarachnoid hemorrhage, Orthostatic hypotension, Abnormal autonom...	ORPHA:139417
Atypical Werner Syndrome	Aortic valve stenosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,...	ORPHA:79474
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Optic atrophy, Hypertension	OMIM:617595
Nephronophthisis 18	Hypertension	OMIM:615862
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Glycogen Storage Disease Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Delayed puberty, Hypertension	OMIM:232220
Coach Syndrome 1	Hypertension, Optic disc pallor, Portal hypertension	OMIM:216360
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Methylcobalamin Deficiency Type Cble	Hypertension, Failure to thrive	ORPHA:2169
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Obesity, Shortened PR interval, Wolff-Parkinson-White syndrome, Optic disc pallor,...	OMIM:614947
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Optic atrophy	ORPHA:314404
Non-Specific Early-Onset Epileptic Encephalopathy	Mental deterioration, Difficulty walking, Attention deficit hyperactivity disorder, Ataxia, Unste...	ORPHA:442835
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obesity, Hypertri...	ORPHA:98863
45,X/46,Xy Mixed Gonadal Dysgenesis	Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert...	ORPHA:1772
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Joubert Syndrome 14	Optic atrophy, Intracranial hemorrhage, Hypertension	OMIM:614424
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Hypertensive crisis, Elevated circula...	ORPHA:653
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Diabetes mellitus	OMIM:222100
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Hypertension	OMIM:614034
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypertension, Hypercholest...	ORPHA:363618
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Autosomal Dominant Dopa-Responsive Dystonia	Compulsive behaviors, Hypothyroidism, Hypertension	ORPHA:98808
Nephroblastoma	Weight loss, Hypertension	ORPHA:654
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ...	ORPHA:358
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pulmonary arterial hypertension, De...	OMIM:232240
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Alagille Syndrome	Hypertension, Telangiectasia of the skin, Delayed puberty, Failure to thrive	ORPHA:52
Tay-Sachs Disease	Mania, Depression, Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia, Dysphagia	ORPHA:845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Impulsivity, Hyperactivity, Exaggerated startle response, Dystonia, Agitation	OMIM:620423
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:79443
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis	OMIM:612716
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Optic atrophy, Cardiomyopathy, Decreased nerve conduction velocity, Opp...	ORPHA:580
Nephronophthisis 2	Pulmonary insufficiency, Hypertension	OMIM:602088
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Weight loss, Hypertension	ORPHA:85450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Hypothalamic gonad...	ORPHA:2235
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Small for gestational age	OMIM:614052
Ogden Syndrome	Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Motor stereotypy...	OMIM:300855
Tuberous Sclerosis Complex	Self-injurious behavior, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Aggressive...	ORPHA:805
Denys-Drash Syndrome	Hypertension	ORPHA:220
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Autoimmune hypoparathyroidism, Prolon...	ORPHA:36913
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia	OMIM:617877
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten...	OMIM:230800
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre...	ORPHA:1686
Hallermann-Streiff Syndrome	Optic disc coloboma, Telangiectasia, Pulmonary arterial hypertension, Hyperactivity, Hypertension...	OMIM:234100
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Weight loss, Raynaud phenomeno...	ORPHA:91139
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Hypertension, Failure to thrive	OMIM:610965
Igg4-Related Retroperitoneal Fibrosis	Budd-Chiari syndrome, Large vessel vasculitis, Hashimoto thyroiditis, Weight loss, Anorexia, Reno...	ORPHA:49041
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	ORPHA:43393
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Leydig cel...	OMIM:308750
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Diabe...	OMIM:608594
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Spondyloenchondrodysplasia	Vasculitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Raynaud phenom...	ORPHA:1855
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-...	OMIM:618841
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Oligomeganephronia	Hypertension, Polydipsia, Small for gestational age, Optic disc coloboma	ORPHA:2260
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Primary Progressive Freezing Gait	Hypertension, Restless legs, Dysphagia	ORPHA:75567
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone deficienc...	OMIM:308700
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Optic atrophy, Hypertension	ORPHA:1555
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Renal Hypoplasia	Hypertension, Polydipsia, Small for gestational age	ORPHA:93101
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto...	ORPHA:900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp...	ORPHA:220393
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Anorexia, Intr...	ORPHA:394
Senior-Boichis Syndrome	Polydipsia, Portal hypertension, Aggressive behavior, Attention deficit hyperactivity disorder, H...	ORPHA:84081
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Bardet-Biedl Syndrome	Insulin resistance, Cardiomyopathy, Hypogonadism, Obesity, Impaired fasting glucose, Type II diab...	ORPHA:110
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Arteriosclerosis, Severe Juvenile	Hypertension, Delayed puberty, Myocardial infarction	OMIM:208060
Hurler Syndrome	Abnormal nerve conduction velocity, Angina pectoris, Hypertension, Cardiomyopathy	ORPHA:93473
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia	OMIM:235400
Smith-Lemli-Opitz Syndrome	Precocious puberty, Failure to thrive, Hypertrophic cardiomyopathy, Hypocholesterolemia, Self-mut...	OMIM:270400
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus,...	OMIM:269700
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Hypogonadism, Decreased ne...	OMIM:216400
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Left ventricul...	ORPHA:740
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Legius Syndrome	Xanthelasma, Vestibular schwannoma, Paroxysmal atrial tachycardia, Attention deficit hyperactivit...	ORPHA:137605
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype...	ORPHA:91351
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Xq21 Microdeletion Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyr...	ORPHA:1435
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Degcags Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Pulmonary arterial hypertension, Tachycardia, Choki...	OMIM:619488
Asparagine Synthetase Deficiency	Irritability, Tremor, Exaggerated startle response	OMIM:615574
Leprosy	Abnormal seventh cranial physiology, Epistaxis, Abnormality of the adrenal glands, Abnormal auton...	ORPHA:548
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O...	ORPHA:881
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia	OMIM:615986
Apert Syndrome	Optic atrophy, Hypertension	ORPHA:87
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Nephronophthisis 1	Hypertension, Polydipsia	OMIM:256100
Marshall-Smith Syndrome	Failure to thrive, Decreased body weight, Premature ventricular contraction, Pulmonary arterial h...	OMIM:602535
Cystinosis	Type I diabetes mellitus, Polydipsia, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insip...	ORPHA:213
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response	ORPHA:521426
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction...	OMIM:133540
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Pulmonary embolism	ORPHA:567546
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper...	OMIM:208050
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Tremor, Hypogonadotropic hypogonadism, De...	ORPHA:478
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Postinfectious Vasculitis	Cerebral vasculitis, Cardiomyopathy, Anorexia, Ischemic stroke, Weight loss, Raynaud phenomenon, ...	ORPHA:48435
Niemann-Pick Disease Type C	Narcolepsy, Disinhibition, Aggressive behavior, Compulsive behaviors, Dysphagia	ORPHA:646
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Hypertension	OMIM:123790
Cockayne Syndrome	Optic atrophy, Absence of pubertal development, Decreased nerve conduction velocity, Hypertension...	ORPHA:191
Papillorenal Syndrome	Hypertension, Optic disc coloboma	OMIM:120330
Galloway-Mowat Syndrome 3	Hypertension, Failure to thrive	OMIM:617729
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Somatomammotropinoma	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:314769
East Syndrome	Polydipsia, Hyperaldosteronism, Action tremor, Salt craving, Increased circulating renin level	ORPHA:199343
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Pulmonary arterial hypertension, Hyp...	OMIM:619573
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Exaggerated startle response	OMIM:617527
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Polydipsia, Cognitive impairment	ORPHA:411629
Acromegaly	Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Hypertrophic cardiomyopa...	ORPHA:963
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension	OMIM:215600
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertensive crisis, Diabetes mellitus, Hypertension	ORPHA:544482
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hypothyroidism, Weight loss, Hematemesis, ...	OMIM:615846
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:208000
Au-Kline Syndrome	Attention deficit hyperactivity disorder, Hypertension, Failure to thrive	OMIM:616580
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm...	ORPHA:91387
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Attention de...	ORPHA:558
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:2036
Benign Schwannoma	Abnormality of peripheral nervous system electrophysiology, Allodynia	ORPHA:252164
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Polydipsia, Irritability	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Nephrogenic diabetes insipidus, Irritability	OMIM:125800
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality of ...	ORPHA:3157
Nephronophthisis 9	Polydipsia	OMIM:613824
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Irritability, Exaggerated startle response	OMIM:618367
Stüve-Wiedemann Syndrome	Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid	ORPHA:3206
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Facial palsy	ORPHA:1358
Sarcoidosis	Portal hypertension, Abnormality of the adrenal glands, Hypothyroidism, Weight loss, Hyperthyroid...	ORPHA:797
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Whipple Disease	Depression, Hypothyroidism, Polydipsia, Anorexia	ORPHA:3452
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Carney Complex	Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul...	ORPHA:1359
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension, Optic atrophy, Dysphagia	OMIM:617913
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hypertension, Portal hypertension, Hematemesis	OMIM:263200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Mitral regurgitation, Supravalvular aortic stenosis, Hypertension, Angina pectori...	ORPHA:391665
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Hypertension	ORPHA:730
Williams Syndrome	Precocious puberty, Congestive heart failure, Failure to thrive in infancy, Hypertrophic cardiomy...	ORPHA:904
Alport Syndrome	Hypertension, Dysphagia	ORPHA:63
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism	ORPHA:2588
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Plague	Hypotension, Arrhythmia, Hematemesis, Anorexia, Tachycardia	ORPHA:707
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Cardiomyopathy, Arrhythmia, Papilledema, Heart murmur, Hypertension	ORPHA:217085
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral regurgitation...	OMIM:220111
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Cardiomyopathy, Arrhythmia, Papilledema, Heart murmur, Hypertension	ORPHA:217093
Hardikar Syndrome	Failure to thrive, Portal hypertension, Impaired growth-hormone response to glucagon stimulation ...	OMIM:301068
Arima Syndrome	Hypertension, Optic atrophy, Polydipsia	OMIM:243910
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Hypertension	OMIM:174000
Truncus Arteriosus	Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Adrenocortical a...	ORPHA:3384
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Decreased nerve conduction velocity, Arrhythmia, Raynaud phenomenon, Abnormal autonomi...	ORPHA:285
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Optic atrophy, Failure to thrive, Obesity, Corn...	ORPHA:567
Alkaptonuria	Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Hypothyroidism, Hypertension, Myoca...	ORPHA:56
Williams-Beuren Syndrome	Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Glucose intolerance, Obs...	OMIM:194050
Pudendal Neuralgia	Allodynia	ORPHA:60039
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Von Hippel-Lindau Syndrome	Pheochromocytoma, Hypertension, Paraganglioma	OMIM:193300
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Histidinemia	Hyperactivity	ORPHA:2157
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Blau Syndrome	Abnormal cranial nerve morphology, Hypertension, Pericarditis	OMIM:186580
Posterior Urethral Valve	Hypertension	ORPHA:93110
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Hypomagnesemia 3, Renal	Hypertension, Polydipsia, Elevated circulating parathyroid hormone level, Failure to thrive	OMIM:248250
Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension	OMIM:613834
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension, Failure to thrive	OMIM:266920
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Neurofibromatosis Type 1	Precocious puberty, Pheochromocytoma, Attention deficit hyperactivity disorder, Delayed puberty, ...	ORPHA:636
Myhre Syndrome	Aortic valve stenosis, Obesity, Hypertension, Small for gestational age	OMIM:139210
Alström Syndrome	Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, ...	ORPHA:64
Sickle Cell Disease	Hypertension	OMIM:603903
Norrie Disease	Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Delayed puberty,...	ORPHA:649
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Orofaciodigital Syndrome I	Hypertension	OMIM:311200
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Myocardial infarction	ORPHA:90038
Cystinosis, Nephropathic	Male hypogonadism, Polydipsia, Primary hypothyroidism, Delayed puberty, Progressive neurologic de...	OMIM:219800
17Q11 Microdeletion Syndrome	Precocious puberty, Elevated circulating parathyroid hormone level, Hypertrophic cardiomyopathy, ...	ORPHA:97685
Acquired Central Diabetes Insipidus	Diabetes insipidus, Polydipsia	ORPHA:95626
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, Dysphagia, Hypertension, Myocardial infarction	ORPHA:447
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Rabson-Mendenhall Syndrome	Precocious puberty, Polydipsia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hy...	ORPHA:769
Renal Agenesis	Hypertension	ORPHA:411709
Nephrogenic Diabetes Insipidus	Polydipsia, Nephrogenic diabetes insipidus, Anorexia	ORPHA:223
Systemic Lupus Erythematosus	Weight loss, Hypertension, Raynaud phenomenon, Anorexia	ORPHA:536
Cranioectodermal Dysplasia 2	Hypertension	OMIM:613610
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Orofaciodigital Syndrome Type 1	Hypertension	ORPHA:2750
Blau Syndrome	Large vessel vasculitis, Abnormal cranial nerve morphology, Pulmonary arterial hypertension, Faci...	ORPHA:90340
Autosomal Recessive Polycystic Kidney Disease	Hypertension, Gastrointestinal hemorrhage, Polydipsia, Portal hypertension	ORPHA:731
Teratoma, Pineal	Polydipsia	OMIM:273120
Neurofibromatosis, Type I	Pheochromocytoma, Hypertension, Parathyroid adenoma	OMIM:162200
Yunis-Varon Syndrome	Cardiomyopathy, Severe failure to thrive, Pulmonary arterial hypertension, Renovascular hypertens...	ORPHA:3472
Denys-Drash Syndrome	Hypertension	OMIM:194080
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Hyperparathyroidism, Neonatal Severe	Primary hyperparathyroidism, Polydipsia, Elevated circulating parathyroid hormone level	OMIM:239200
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension	ORPHA:402075
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Failure to thrive	OMIM:210710
Adams-Oliver Syndrome 1	Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis	OMIM:100300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Polydipsia, Elevated circulating parathyroid hormone level	OMIM:617994
Keppen-Lubinsky Syndrome	Failure to thrive, Decreased serum leptin	OMIM:614098
Pierson Syndrome	Retinal hemorrhage, Hypertension	OMIM:609049
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Failure to thrive in infancy, Transient ischemic attack, Left ventricular ...	ORPHA:51608
Nephronophthisis 4	Polydipsia	OMIM:606966
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Diabetes insipidus, Polydipsia	ORPHA:35687
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy	OMIM:309801
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Elevated circulating parathyroid hormone level, Abnormal parathyroid morphology, Thyr...	ORPHA:99880
Helix Syndrome	Hyperparathyroidism, Polydipsia	OMIM:617671
Parathyroid Carcinoma	Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parat...	ORPHA:143
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Nephronophthisis 11	Polydipsia	OMIM:613550
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia	ORPHA:537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Stereotypical hand wringing, Dystonia, Dysphagia, Exaggerated startle response	ORPHA:438213
Renal Dysplasia	Hypertension	ORPHA:93108
Nephronophthisis 3	Polydipsia	OMIM:604387
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response	OMIM:619522
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypothyroidism, Polydipsia, Abnormality of endocrine pancreas physiology, Diabetes mellitus	ORPHA:93111
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Hypertension, Corneal neovascularization	OMIM:308205
Multicystic Dysplastic Kidney	Hypertension	ORPHA:1851
Juvenile Nephropathic Cystinosis	Hypothyroidism, Polydipsia	ORPHA:411634
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Distal Renal Tubular Acidosis	Polydipsia	ORPHA:18
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Telangiectasia of the skin, Internal hemorrhage, Renovascular hyperten...	ORPHA:286
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Polydipsia	OMIM:602522
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Hyperactive renin-angiotensin system, Polydipsia, Increased circulating renin...	OMIM:241200
Proximal Renal Tubular Acidosis	Polydipsia	ORPHA:47159

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 Cacna1b

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 Cacna1b.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ca_V 2.1 α₁ subunit motifs that control presynaptic Ca_V 2.1 subtype abundance are distinct from Ca_V 2.1 preference.	The Journal of physiology (December 2023)	Cacna1b^{tm1c(KOMP)Wtsi}	38155373
Cerebellar granule cell signaling is indispensable for normal motor performance.	Cell reports (May 2023)	Cacna1b^{tm1a(KOMP)Wtsi}	PMC10258556
An action potential initiation mechanism in distal axons for the control of dopamine release.	Science (New York, N.Y.) (March 2022)	Cacna1b^{tm1c(KOMP)Wtsi}	35324301
Rebuilding essential active zone functions within a synapse.	Neuron (February 2022)	Cacna1b^{tm1c(KOMP)Wtsi}	35176221
Synapse and Active Zone Assembly in the Absence of Presynaptic Ca2+ Channels and Ca2+ Entry.	Neuron (June 2020)	Cacna1b^{tm1c(KOMP)Wtsi} Cacna1b^{tm1a(KOMP)Wtsi}	32616470

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MGI Allele	Allele Type	Produced
Cacna1b^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cacna1b^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Cacna1b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Cacna1b MGI:88296

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Echo

X-ray

Embryo LacZ

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Cacna1b mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data