Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
decreased anxiety-related response	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.71×10^-13
abnormal behavior	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.79×10^-09
decreased fasting circulating glucose level	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.45×10^-05
decreased thigmotaxis	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.85×10^-10
decreased grip strength	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.62×10^-09
hyperactivity	Cacna1b^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.12×10^-19
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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 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)
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)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 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)
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)
Peyer's patch	N/A	heterozygote	0.0% (0 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)
Spleen	N/A	heterozygote	0.0% (0 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.

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Echo

M-Mode Images

32 Images

View images

Adult LacZ

LacZ Images Wholemount

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

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 (906 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		Choreoathetosis, Inability to walk, Stereotypical hand wringing, Bruxism	OMIM:618497
Non-Specific Early-Onset Epileptic Encephalopathy		Ataxia, Impulsivity, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty walking,...	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	Hyperactivity, Attention deficit hyperactivity disorder	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	Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Hyp...	ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the youn...	ORPHA:324575
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Hy...	OMIM:610947
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglyc...	ORPHA:276580
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Irritability, Hyperactivity	OMIM:616657
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypertrophic car...	ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli...	ORPHA:71529
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Mahvash Disease	Palpitations, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia	OMIM:619290
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent h...	ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel...	ORPHA:276608
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit...	OMIM:615703
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Depression, Attention deficit hyperactivity disorder, Difficulty walking, Ment...	OMIM:619191
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Hypertension, Hypogonadism, Abnor...	ORPHA:97229
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Progressive Supranuclear Palsy	Impulsivity, Tremor, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Depression, Dement...	ORPHA:683
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb...	ORPHA:248111
Intracranial Hypertension, Idiopathic	Hypertension, Papilledema	OMIM:243200
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior	OMIM:620270
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology...	ORPHA:85447
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Hypertension, Agitation, Abnormal autonomic nervous system ph...	OMIM:613870
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Panc...	ORPHA:263455
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Preeclampsia	Increased body mass index, Small for gestational age, Elevated diastolic blood pressure, Hyperten...	ORPHA:275555
Narcolepsy 7	Narcolepsy, Type II diabetes mellitus, Obesity	OMIM:614250
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance,...	OMIM:604367
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology	OMIM:598500
Mitchell Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:618960
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, A...	ORPHA:398069
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity, Ataxia	OMIM:615924
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder	OMIM:617935
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis,...	OMIM:615238
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Obesity, Hyperglycemia	OMIM:619737
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension	ORPHA:363400
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid...	OMIM:603373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Tetanus	Tachycardia, Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, ...	ORPHA:3299
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Gcgr-Related Hyperglucagonemia	Diabetes mellitus, Increased glucagon level, Glucagonoma	ORPHA:438274
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm...	ORPHA:330001
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Insulin resistance, Hyperlipidemia, Hypertension, Abdominal obesity	OMIM:615980
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:101046
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce...	ORPHA:36382
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Stiff-Person Syndrome	Hypertension, Exaggerated startle response, Diabetes mellitus, Tachycardia	OMIM:184850
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ...	OMIM:609152
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card...	ORPHA:263297
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Syncope, Abnormal autonomic nervous system physio...	ORPHA:441
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo...	OMIM:601820
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior	ORPHA:329284
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve...	OMIM:615962
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Variegate Porphyria	Tachycardia	OMIM:176200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul...	ORPHA:913
Leptin Deficiency Or Dysfunction	Polyphagia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ...	ORPHA:449285
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Insulin resistance...	OMIM:613327
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart fail...	ORPHA:49827
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Multiple System Atrophy	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:102
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Neuromuscular dysphagia, Orthostatic syncope, Abnormal autonomic nervous syst...	ORPHA:227510
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Increased circulating free fatty a...	ORPHA:26793
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Myocardial infarction, Obesity, Hypertension, Type II diabetes mellitus	OMIM:618620
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo...	ORPHA:398079
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Type II ...	OMIM:602668
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:98933
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest	ORPHA:168593
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stimulation test, A...	ORPHA:485405
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu...	OMIM:212138
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c...	OMIM:171400
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Hypertension, Truncal obesity, Abdominal obesity, Ty...	OMIM:615812
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Rett Syndrome	Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin, Failure to thriv...	ORPHA:778
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circulatin...	OMIM:615830
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur...	ORPHA:860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr...	ORPHA:525731
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi...	ORPHA:35878
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter	OMIM:188580
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Hypertens...	ORPHA:449291
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, In...	ORPHA:79085
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:1192
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper...	ORPHA:136
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Leber Hereditary Optic Neuropathy	Arrhythmia, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Optic atrophy, Type II diabetes mellitus	OMIM:604121
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Timothy Syndrome	Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia...	OMIM:601005
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Self-inj...	ORPHA:58
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Crouch gait, Gait ataxia	OMIM:620145
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171420
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Ag...	ORPHA:293987
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Cranial nerve comp...	ORPHA:94080
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Congestive heart failure, Insulin-res...	ORPHA:79083
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes...	ORPHA:2298
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Serotonin Syndrome	Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Abnormality of the autonomic ner...	ORPHA:43116
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Ven...	OMIM:616878
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J...	ORPHA:137675
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior	ORPHA:457260
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Seckel Syndrome 10	Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated circulating luteini...	OMIM:617253
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Infantile Neuroaxonal Dystrophy	Hyperactivity, Impulsivity, Optic atrophy, Abnormal autonomic nervous system physiology, Choking ...	ORPHA:35069
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Paroxysmal Hemicrania	Hypertension, Restless legs, Diabetes mellitus	ORPHA:157835
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula...	ORPHA:85443
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity	OMIM:620195
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Porphyria Variegata	Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia, Abnormal autonomic nervo...	ORPHA:79473
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Palpitations	OMIM:133020
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Takayasu Arteritis	Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hypertension, Cerebral ischemia, Pulmon...	ORPHA:3287
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Alstrom Syndrome	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:203800
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Hypoketotic hypoglycemia	OMIM:600649
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Cognitive impairme...	ORPHA:43
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, In...	ORPHA:435660
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut...	OMIM:169500
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased...	ORPHA:435651
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Torticollis, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai...	ORPHA:168491
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Hypogonadism, Abno...	ORPHA:3463
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Tenorio Syndrome	Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Apparent Mineralocorticoid Excess	Hypertension, Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased...	ORPHA:320
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia	OMIM:603278
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr...	ORPHA:83601
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Tachycardia, Hypoglycemia, Sudden cardiac death, Di...	OMIM:614921
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Fragile X-Associated Tremor/Ataxia Syndrome	Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Compulsive behaviors, Hypo...	ORPHA:93256
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Dysphagia, Delayed p...	ORPHA:447896
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal auto...	OMIM:256800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Dysphagia, Hypertension, Agitation, Bradycardia, Hypotension, Ab...	ORPHA:94093
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi...	ORPHA:1329
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Hydroxykynureninuria	Tachycardia, Abnormal repetitive mannerisms, Hypotension	ORPHA:79155
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Abn...	ORPHA:280365
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension	OMIM:611489
Mercury Poisoning	Hypertension, Tachycardia, Hypotension, Anorexia	ORPHA:330021
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism	OMIM:617903
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Vestibular areflexia, Abnormal autonomic nervous system physiology, Decreased distal sensory nerv...	OMIM:614575
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism	OMIM:275120
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia	OMIM:615750
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno...	ORPHA:163681
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Adrenocortical adenoma, Pheochr...	ORPHA:139411
Stiff Skin Syndrome	Hypertension, Type II diabetes mellitus	ORPHA:2833
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti...	OMIM:617600
Congenital Generalized Lipodystrophy	Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Congestive heart failure,...	ORPHA:528
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology, Aggressive behavior	OMIM:300894
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsi...	ORPHA:2131
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Polydipsia, Decreased circulating renin level	OMIM:613677
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Hyperte...	OMIM:219090
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Lead Poisoning	Small for gestational age, Anorexia, Hypertension, Decreased circulating osteocalcin level, Atten...	ORPHA:330015
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Scorpion Envenomation	Bundle branch block, Tachycardia, Restlessness, Cardiac conduction abnormality, Congestive heart ...	ORPHA:466677
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy...	ORPHA:71273
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Fasting hypoglycemia, Hypotension, Arrhythmia, Hypoketot...	ORPHA:159
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Sneddon Syndrome	Hypertension, Ischemic stroke, Facial palsy, Cerebral hemorrhage	OMIM:182410
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:363722
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia	OMIM:229700
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Dysphagia, Weight loss	OMIM:600072
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive	OMIM:616069
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr...	ORPHA:251992
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Tularemia	Tachycardia	ORPHA:3392
Glutaric Aciduria Iii	Hypertension, Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type I...	OMIM:151660
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171300
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys...	OMIM:610217
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ...	OMIM:115310
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Failure to thrive, Decreased circulating aldosterone lev...	OMIM:218030
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Overweight, Obesity, Hypertension, Hypercholesterolemia	ORPHA:69663
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur...	ORPHA:139396
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he...	ORPHA:276621
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Heart murmur, Pulmonic stenosis, Failure to thrive, Aplasia/Hypo...	ORPHA:3426
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity	ORPHA:3085
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Small for gestational age	OMIM:616733
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto...	OMIM:105210
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Weight loss, Hypertension, Agitation, Hypotension, Oral aversion, Hypergl...	ORPHA:134
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Young-Onset Parkinson Disease	Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:2828
Narcolepsy 3	Narcolepsy	OMIM:609039
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Haddad Syndrome	Small for gestational age, Failure to thrive, Aganglionic megacolon, Abnormal autonomic nervous s...	ORPHA:99803
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C...	ORPHA:29072
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Abnormal autonomic nervous system physiology, Dysphagia, Abnorm...	ORPHA:247234
Narcolepsy 1	Narcolepsy	OMIM:161400
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ventricular tachycardia, Increased circulating renin level, ...	OMIM:263800
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypo...	ORPHA:90041
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Galactokinase Deficiency	Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hyperc...	ORPHA:79237
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:109150
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad...	ORPHA:231632
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens...	ORPHA:347
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Optic atrophy, Tachycardia	ORPHA:1764
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Impaired glucose tolerance, Facial palsy, Left bundle branch block, Glucose intolerance, Arrhythm...	OMIM:610131
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Premature thelarche, Atrioventricular block, Hypertension, Type I diabetes mellitus,...	ORPHA:371428
Rhabdoid Tumor	Hypertension, Internal hemorrhage, Weight loss	ORPHA:69077
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Cholera	Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia	ORPHA:173
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Small for gestational age, Congesti...	ORPHA:1830
Overlap Myositis	Diabetes mellitus, Raynaud phenomenon, Hypertension, Dysphagia, Pulmonary arterial hypertension	ORPHA:206572
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response	OMIM:616881
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Insulin resistance, ...	ORPHA:902
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Amyloidosis, Familial Visceral	Hypertension	OMIM:105200
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension	ORPHA:767
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria...	OMIM:615474
Caudal Regression Syndrome	Hypertension, Impulsivity, Maternal diabetes	ORPHA:3027
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Optic atrophy, Weight loss, Hypertension, Increased blood pres...	OMIM:619487
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Syncop...	ORPHA:230
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Aggressive behavior, Abnormality of the endocrine system...	ORPHA:3385
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel...	ORPHA:2457
Poliomyelitis	Abnormal motor nerve conduction velocity, Anorexia, Hypertension, Hypovolemic shock, Agitation, H...	ORPHA:2912
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology	ORPHA:300570
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit...	ORPHA:99827
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Fanconi Renotubular Syndrome 5	Hypertension, Glycosuria	OMIM:618913
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera...	OMIM:606721
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight	ORPHA:90051
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Juvenile Paget Disease	Hypertension, Optic atrophy	ORPHA:2801
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hypertension, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Atypical Werner Syndrome	Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Telangiectasia of the skin, Abnormal ...	ORPHA:79474
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys...	ORPHA:273
Infant Botulism	Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia	ORPHA:178478
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Abnormality of the peripheral nervous system, Hype...	ORPHA:542643
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, Insulin resistance, Obe...	OMIM:209900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Small for gestational age, Elevated circulating thyroid-stimulating ho...	OMIM:242900
Hereditary Central Diabetes Insipidus	Irritability, Polydipsia, Diabetes insipidus	ORPHA:30925
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased body weight, Sever...	ORPHA:1051
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Aggressive behavior	OMIM:618321
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Cognitive impairment	OMIM:615994
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Coach Syndrome 2	Hypertension	OMIM:619111
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist...	OMIM:608594
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Increased circulating free fatty acid level, Fasting hyperinsulinemia, Dil...	ORPHA:71212
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Hypothyroidism, Abnormal autonomic nervous system physiology, Bruxism	ORPHA:453499
Liddle Syndrome 2	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Von Hippel-Lindau Disease	Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic endocrine tumor, My...	ORPHA:892
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Sheehan Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduced circulating ...	ORPHA:91355
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Hyperinsulinemic hypoglycemia, Failure to thriv...	ORPHA:79319
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension	OMIM:613320
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, Agitati...	ORPHA:217253
Liddle Syndrome 1	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Hypertension, Hyperaldosteronism, Increased circulating renin level, Polydipsia	OMIM:612780
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short attention span, Hyperactivity...	ORPHA:209905
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Small for gestational age, Pulmonary arterial...	OMIM:617021
Acute Intermittent Porphyria	Hypertension, Tachycardia, Pseudobulbar paralysis, Restlessness	ORPHA:79276
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Anorexia, Depression	ORPHA:178029
Wagro Syndrome	Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
X-Linked Creatine Transporter Deficiency	Athetosis, Hyperactivity, Ataxia, Self-mutilation	ORPHA:52503
C3 Glomerulopathy	Hypertension	ORPHA:329918
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Facial palsy, Dilated cardiomyopathy, Fa...	ORPHA:254892
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:168600
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Bardet-Biedl Syndrome	Hypertension, Hypoplasia of the ovary, Hypogonadism, Obesity	ORPHA:110
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Tick-Borne Encephalitis	Facial palsy, Anorexia, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous sy...	ORPHA:297
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ...	OMIM:614008
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Horner syndrome, Weight loss	OMIM:256700
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension, Weight loss	ORPHA:98849
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Inability to walk, Stereotypical hand wringing, Bruxism	OMIM:618497
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit...	OMIM:269700
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Polyphagia, Obesity, Delayed puberty	ORPHA:251004
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Exaggerated startle response	OMIM:617864
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb...	OMIM:234200
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Optic atrophy, Mitral regurgitati...	ORPHA:505248
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Sudden cardiac death, Supraventricular arrhythmi...	ORPHA:98855
Argininemia	Irritability, Hyperactivity, Spastic gait, Anorexia	OMIM:207800
Ochoa Syndrome	Hypertension, Polydipsia	ORPHA:2704
Graft Versus Host Disease	Tachycardia, Failure to thrive	ORPHA:39812
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypoglycemia, Anorexia, Aggressive behavior, Hypovolemia, Capil...	ORPHA:99826
Panhypophysitis	Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad...	ORPHA:95513
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Pituitary hypothyroidism, Bradyca...	ORPHA:90674
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Sudden cardiac death, Supraventricular arrhythmi...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Sudden cardiac death, Supraventricular arrhythmi...	ORPHA:98853
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hypertension, Delayed puberty	OMIM:232220
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:171695
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures...	ORPHA:79259
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Central Hypoventilation Syndrome, Congenital, 1	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi...	OMIM:209880
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Birk-Landau-Perez Syndrome	Hypertension, Optic atrophy, Failure to thrive in infancy	OMIM:617595
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Renal Hypoplasia, Bilateral	Hypertension, Failure to thrive, Small for gestational age, Glycosuria	ORPHA:97362
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:601559
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculitis, Optic atrophy, Hyper...	OMIM:615688
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Nephronophthisis 18	Hypertension	OMIM:615862
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Hypertension, Male hypogonadism, Failure to t...	ORPHA:90321
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Sudden cardiac death, Supraventricular arrhythmi...	ORPHA:98863
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Se...	OMIM:246200
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system...	ORPHA:139417
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Primary hyperp...	ORPHA:653
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Optic atrophy, Shortened PR interval, Obesity,...	OMIM:614947
Coach Syndrome 1	Hypertension, Optic disc pallor, Portal hypertension	OMIM:216360
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag...	ORPHA:363618
Methylcobalamin Deficiency Type Cble	Hypertension, Failure to thrive	ORPHA:2169
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Optic atrophy	ORPHA:314404
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism, Compulsive behaviors	ORPHA:98808
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis,...	ORPHA:358
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty walking,...	ORPHA:442835
Heme Oxygenase 1 Deficiency	Hypertension, Epistaxis, Diffuse alveolar hemorrhage	OMIM:614034
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Optic atrophy	OMIM:614424
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79443
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Streak ovary, Increased circulating gonadotropin level, Obesi...	ORPHA:1772
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Glycogen Storage Disease Ic	Hypoglycemia, Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Delayed puberty, Pulm...	OMIM:232240
Nephroblastoma	Hypertension, Weight loss	ORPHA:654
Nephronophthisis 2	Hypertension, Pulmonary insufficiency	OMIM:602088
Alagille Syndrome	Hypertension, Failure to thrive, Telangiectasia of the skin, Delayed puberty	ORPHA:52
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ...	ORPHA:85327
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Weight loss, Hypertension, Hypogonadism	ORPHA:85450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Mania, Laryngeal dystonia	ORPHA:845
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R...	ORPHA:805
Ogden Syndrome	Maternal diabetes, Abnormal repetitive mannerisms, Ventricular tachycardia, Dysphagia, Premature ...	OMIM:300855
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia, Autoimmune hyp...	ORPHA:36913
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:614052
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin-resistant diabet...	ORPHA:769
Denys-Drash Syndrome	Hypertension	ORPHA:220
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve conduction velocity...	ORPHA:580
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Renovascular hypertension, Large vessel vasculitis, Weight loss, Hypertension, Budd-Chi...	ORPHA:49041
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Hallermann-Streiff Syndrome	Hyperactivity, Small for gestational age, Optic disc coloboma, Telangiectasia, Hypertension, Pulm...	OMIM:234100
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi...	ORPHA:1855
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Xfe Progeroid Syndrome	Hypertension, Failure to thrive, Optic atrophy, Cachexia	OMIM:610965
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Primary Progressive Freezing Gait	Hypertension, Restless legs, Dysphagia	ORPHA:75567
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Oligomeganephronia	Hypertension, Polydipsia, Optic disc coloboma, Small for gestational age	ORPHA:2260
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ...	OMIM:308750
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Renal Hypoplasia	Hypertension, Polydipsia, Small for gestational age	ORPHA:93101
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ...	OMIM:308700
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Optic atrophy	ORPHA:1555
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia	OMIM:235400
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Optic atrophy, Intracranial hemorrhage...	ORPHA:394
Senior-Boichis Syndrome	Portal hypertension, Aggressive behavior, Hypertension, Agitation, Attention deficit hyperactivit...	ORPHA:84081
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction, Delayed puberty	OMIM:208060
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dysphagia, Pulmonary arterial hypertension,...	ORPHA:220393
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Mandibuloacral Dysplasia With Type A Lipodystrophy	Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia...	OMIM:248370
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aganglionic megacolon, Aggressive behavior, Precocious puberty, Self-mutilation, H...	OMIM:270400
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector...	ORPHA:740
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Hurler Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Hypertension, Angina pectoris	ORPHA:93473
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul...	OMIM:620185
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu...	ORPHA:91351
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Bartter Syndrome Type 4	Small for gestational age, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism...	ORPHA:89938
Cockayne Syndrome A	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten...	OMIM:216400
Leprosy	Abnormality of the seventh cranial nerve, Abnormality of the adrenal glands, Epistaxis, Abnormal ...	ORPHA:548
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Myocardial ...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Myocardial ...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Myocardial ...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Myocardial ...	ORPHA:881
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Degcags Syndrome	Tachycardia, Small for gestational age, Oral-pharyngeal dysphagia, Pulmonic stenosis, Choking epi...	OMIM:619488
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Apert Syndrome	Hypertension, Optic atrophy	ORPHA:87
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia	OMIM:615986
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Nephronophthisis 1	Hypertension, Polydipsia	OMIM:256100
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Cystinosis	Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Type I diabetes mellitus, Polydi...	ORPHA:213
Marshall-Smith Syndrome	Optic nerve hypoplasia, Premature ventricular contraction, Hypertension, Decreased body weight, P...	OMIM:602535
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Tremor, De...	ORPHA:478
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Pulmonary embolism	ORPHA:567546
Postinfectious Vasculitis	Cerebral vasculitis, Anorexia, Abnormality of the peripheral nervous system, Raynaud phenomenon, ...	ORPHA:48435
Niemann-Pick Disease Type C	Aggressive behavior, Narcolepsy, Disinhibition, Compulsive behaviors, Dysphagia	ORPHA:646
Cockayne Syndrome B	Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Optic atrophy	OMIM:123790
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Papillorenal Syndrome	Hypertension, Optic disc coloboma	OMIM:120330
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Galloway-Mowat Syndrome 3	Hypertension, Failure to thrive	OMIM:617729
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Cockayne Syndrome	Optic disc pallor, Diabetes mellitus, Cachexia, Decreased nerve conduction velocity, Optic atroph...	ORPHA:191
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:963
East Syndrome	Salt craving, Hyperaldosteronism, Increased circulating renin level, Polydipsia, Action tremor	ORPHA:199343
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Infantile Nephropathic Cystinosis	Polydipsia, Abnormality of thyroid physiology, Cognitive impairment	ORPHA:411629
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction	OMIM:208000
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Diabetes mellitus, Hypertensive crisis	ORPHA:544482
Au-Kline Syndrome	Hypertension, Failure to thrive, Attention deficit hyperactivity disorder	OMIM:616580
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension	ORPHA:2036
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia	OMIM:617527
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Dilated cardiomyopathy, Hypertension, Third degr...	OMIM:619573
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Aicardi-Goutieres Syndrome 7	Hematemesis, Vasculitis, Weight loss, Hematochezia, Hypertension, Hypertrophic cardiomyopathy, Hy...	OMIM:615846
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Stüve-Wiedemann Syndrome	Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid	ORPHA:3206
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of the hypothalamus-pit...	ORPHA:3157
Sarcoidosis	Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Facial palsy, Portal ...	ORPHA:797
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Irritability, Polydipsia, Diabetes insipidus	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Irritability, Polydipsia	OMIM:125800
Carey-Fineman-Ziter Syndrome	Facial palsy, Hypertensive crisis	ORPHA:1358
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Hyperlipidemia, H...	ORPHA:391665
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Plague	Tachycardia, Anorexia, Hematemesis, Hypotension, Arrhythmia	ORPHA:707
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
Whipple Disease	Polydipsia, Hypothyroidism, Anorexia, Depression	ORPHA:3452
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension, Optic atrophy, Dysphagia	OMIM:617913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Pituitary growth hormone cell adenoma	ORPHA:730
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism	ORPHA:2588
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hypertension, Portal hypertension	OMIM:263200
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Portal hypertension, Hematemesis, Hypertension, Imp...	OMIM:301068
Williams Syndrome	Overfriendliness, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Sudden cardiac dea...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul...	ORPHA:3384
Williams-Beuren Syndrome	Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Obesity, Early onset of sex...	OMIM:194050
Alport Syndrome	Hypertension, Dysphagia	ORPHA:63
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Dysphagia, Hypertension, Mitral regurgitation, Hyperglyc...	OMIM:220111
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Arima Syndrome	Hypertension, Polydipsia, Optic atrophy	OMIM:243910
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Aganglionic megacolon, Optic at...	ORPHA:567
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Optic atrophy, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217085
Legius Syndrome	Hyperactivity, Paroxysmal atrial tachycardia, Xanthelasma, Vestibular schwannoma, Pulmonic stenos...	ORPHA:137605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Optic atrophy, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217093
Von Hippel-Lindau Syndrome	Hypertension, Pheochromocytoma, Paraganglioma	OMIM:193300
Histidinemia	Hyperactivity	ORPHA:2157
Neurofibromatosis Type 1	Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromocytoma, Attentio...	ORPHA:636
Keppen-Lubinsky Syndrome	Failure to thrive, Decreased serum leptin	OMIM:614098
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Blau Syndrome	Hypertension, Pericarditis, Abnormal cranial nerve morphology	OMIM:186580
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Posterior Urethral Valve	Hypertension	ORPHA:93110
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension, Failure to thrive	OMIM:266920
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ...	ORPHA:97685
Cystinosis, Nephropathic	Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Dysphagia, Pr...	OMIM:219800
Myhre Syndrome	Hypertension, Aortic valve stenosis, Small for gestational age, Obesity	OMIM:139210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Norrie Disease	Diabetes mellitus, EEG abnormality, Self-injurious behavior, Irritability, Attention deficit hype...	ORPHA:649
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Alkaptonuria	Hypertension, Myocardial infarction	ORPHA:56
Sickle Cell Disease	Hypertension	OMIM:603903
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Dysphagia, Hypertension, Budd-Chiari syndrome, Glycosuria	ORPHA:447
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:95626
Orofaciodigital Syndrome I	Hypertension	OMIM:311200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Myocardial infarction	ORPHA:90038
Renal Agenesis	Hypertension	ORPHA:411709
Nephrogenic Diabetes Insipidus	Nephrogenic diabetes insipidus, Polydipsia, Anorexia	ORPHA:223
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Neurofibromatosis, Type I	Parathyroid adenoma, Hypertension, Pheochromocytoma	OMIM:162200
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Orofaciodigital Syndrome Type 1	Hypertension	ORPHA:2750
Blau Syndrome	Pericarditis, Facial palsy, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio...	ORPHA:90340
Cranioectodermal Dysplasia 2	Hypertension	OMIM:613610
Teratoma, Pineal	Polydipsia	OMIM:273120
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypertension, Polydipsia, Portal hypertension	ORPHA:731
Benign Schwannoma	Allodynia, Abnormality of peripheral nervous system electrophysiology	ORPHA:252164
Yunis-Varon Syndrome	Renovascular hypertension, Hypertension, Cardiomyopathy, Severe failure to thrive, Pulmonary arte...	ORPHA:3472
Denys-Drash Syndrome	Hypertension	OMIM:194080
Hyperparathyroidism, Neonatal Severe	Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Polydipsia	OMIM:239200
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Failure to thrive	OMIM:210710
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Adrenal calcification, Failure to thrive in infancy, Retinal hemorrhag...	ORPHA:51608
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension	ORPHA:536
Nephronophthisis 4	Polydipsia	OMIM:606966
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Hyperparathyroidism-Jaw Tumor Syndrome	Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho...	ORPHA:99880
Erdheim-Chester Disease	Polydipsia, Hypogonadotropic hypogonadism, Diabetes insipidus	ORPHA:35687
Helix Syndrome	Hyperparathyroidism, Polydipsia	OMIM:617671
Parathyroid Carcinoma	Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho...	ORPHA:143
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Nephronophthisis 11	Polydipsia	OMIM:613550
Nephronophthisis 3	Polydipsia	OMIM:604387
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia	ORPHA:537
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Renal Dysplasia	Hypertension	ORPHA:93108
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia	ORPHA:438213
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Aganglionic megacolon, Corneal neovascularization	OMIM:308205
Hypomagnesemia 3, Renal	Polydipsia, Elevated circulating parathyroid hormone level	OMIM:248250
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism	ORPHA:93111
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Juvenile Nephropathic Cystinosis	Polydipsia, Hypothyroidism	ORPHA:411634
Distal Renal Tubular Acidosis	Polydipsia	ORPHA:18
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I...	ORPHA:286
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Hyperaldosteronism	OMIM:602522
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin...	OMIM:241200
Pmm2-Cdg	Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elevated circulating growth hormone...	ORPHA:79318
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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cacna1b MGI:88296

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

X-ray

Echo

Adult LacZ

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Cacna1b mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data