Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosducin
Synonyms:
Rpr1,  Pdc,  Rpr-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pdc mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hypertension, Essential
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure OMIM:145500
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Paragangliomas 6
Hypertension OMIM:618464
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension OMIM:236800
Liddle Syndrome 3
Hypertension OMIM:618126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Developmental cataract, Bradyca... OMIM:618815
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal chorioretinal morp... ORPHA:225
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal muscle, Org... OMIM:255100
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Coproporphyria, Hereditary
Hypertension, Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobi... OMIM:121300
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Developmental cataract, Myopathy, Ragged-red muscle fibers, Left ventricular hypert... OMIM:540000
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Serotonin Syndrome
Mydriasis, Hypertension, Tachycardia, Acute kidney injury, Rhabdomyolysis, Hypotension ORPHA:43116
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Variegate Porphyria
Porphyrinuria, Tachycardia OMIM:176200
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Infant Botulism
Mydriasis, Hypertension, Keratoconjunctivitis sicca, Cardiac arrest, Hypotension ORPHA:178478
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Coronary Artery Disease, Autosomal Dominant 2
Myocardial infarction, Hypertension, Diabetes mellitus, Sudden cardiac death OMIM:610947
Renal Failure, Progressive, With Hypertension
Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... OMIM:161900
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... OMIM:614954
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Renal in... ORPHA:54370
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Ab... ORPHA:90064
Wound Botulism
Mydriasis, Cardiac arrest, Urinary retention ORPHA:178475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Inc... OMIM:619048
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Mydriasis, Prolonged QT interval, Tubulointerstitial nephritis... ORPHA:90068
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis, Urinary retention ORPHA:254509
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Botulism
Mydriasis, Arrhythmia, Urinary retention ORPHA:1267
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Focal pancreatic islet hyperplasia, Excessive insulin respo... ORPHA:276575
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Amin... OMIM:268500
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... ORPHA:263297
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Maternal diabetes, Excessive insulin response to glucagon t... ORPHA:276580
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Foodborne Botulism
Mydriasis, Arrhythmia, Urinary retention ORPHA:228371
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Perimembranous ventricular septal defect, Bradycardia, ... OMIM:618782
Pituitary Apoplexy
Mydriasis, Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypogon... ORPHA:95613
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Uveal Melanoma
Mydriasis, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior lens subluxation, Cilia... ORPHA:39044
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, EEG abnormality, Arrhythmia OMIM:617021
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Ketonuria, Mydria... ORPHA:466677
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Excessive insulin response to glucagon test, Palpitations, ... ORPHA:276556
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Elevated urina... OMIM:171420
Lipodystrophy, Familial Partial, Type 4
Hypertension, Diabetes mellitus, Skeletal muscle hypertrophy OMIM:613877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... OMIM:609286
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaconic aciduria, Cataract, Bradycardia OMIM:617248
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Systolic he... ORPHA:2041
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Micropenis, Atrial septal defect, Contractu... OMIM:613870
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension, Renal insufficiency, Renal hypoplasia OMIM:618681
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Liddle Syndrome
Hypertension, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia ORPHA:526
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... OMIM:603373
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Type II diabetes mellitus, Congestive heart failure OMIM:615703
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Maternal diabetes, Excessive insulin response to glucagon test, Palpitations, Hyperinsul... ORPHA:324575
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Acute kidney i... ORPHA:275555
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... ORPHA:330001
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, ... ORPHA:567544
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Hypsarrhythmia, Keratoconus, Patent foramen ovale, Prolon... ORPHA:542306
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Ventricular septal def... ORPHA:860
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Tachycardia, Exercise-induced myoglobinuria... ORPHA:368
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Amyloidosis, Familial Visceral
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria OMIM:105200
Senior-Loken Syndrome
Hypertension, Nephronophthisis, Stage 5 chronic kidney disease, Cataract, Chronic kidney disease ORPHA:3156
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia ORPHA:276608
Idiopathic Congenital Hypothyroidism
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulati... ORPHA:95717
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Insulin-resistant diabetes mellitus at puberty, Calf muscle hypertrophy, Abnormal c... ORPHA:280356
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Type I diabetes mellitus, Nep... ORPHA:1192
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... ORPHA:329918
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Developmental cataract, Tachycardia, Congestive heart... OMIM:171300
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Elevated circulating follicle stimulating hormone level, Palpitation... OMIM:602668
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Tetanus
Hypertension, Elevated urinary epinephrine, Bradycardia, Tachycardia, Elevated urinary norepineph... ORPHA:3299
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Fabry Disease
Hypertension, Lipiduria, Corneal dystrophy, Ventricular septal hypertrophy, Delayed puberty, Myoc... OMIM:301500
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Tachycardia, Hyperthyroidism, Rhabdomyolysis OMIM:188580
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Porphyrinuria, Tachycardia, Dark urine, Increased urinar... ORPHA:79273
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Liddle Syndrome 2
Hypertension OMIM:618114
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Nephrolithiasis, Recurrent urinary tract infections, Fetal pyelectasis, Hy... OMIM:619365
Potocki-Shaffer Syndrome
Hypertension, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Atrial fibrillation, Urinary retention, Urinary hesitancy, D... ORPHA:976
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... ORPHA:36382
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary diff... OMIM:616733
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Corneal erosion, Nephrotic syndrome, Hema... OMIM:203780
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Macroglossia, Increased radioactive iodine uptake, Decreased c... ORPHA:95716
Riboflavin Transporter Deficiency
Hypertension, Skeletal muscle atrophy, Diabetes insipidus, Limb muscle weakness, Facial palsy, Hy... ORPHA:97229
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic a... OMIM:171400
Alagille Syndrome 2
Hypertension, Renal hypoplasia, Posterior embryotoxon, Renal tubular acidosis, Hematuria, Renal c... OMIM:610205
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... OMIM:103900
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency, Hypotension OMIM:156310
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Cataract, Hypergonadotropic hypogonadi... ORPHA:280679
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Complete atrioventricular canal ... ORPHA:1329
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypertension, Hyperperistalsis, Pulmonary arterial hypertension OMIM:613834
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Stiff-Person Syndrome
Hypertension, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Diab... OMIM:184850
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Abnormal urinary color, Tachycardia ORPHA:90037
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Permanent ... ORPHA:31825
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... ORPHA:3287
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Alternating Hemiplegia Of Childhood
Mydriasis, Abnormal T-wave, Cardiac conduction abnormality, Facial hypotonia, Cardiomyopathy, Arr... ORPHA:2131
Paroxysmal Hemicrania
Conjunctival hyperemia, Hypertension, Miosis, Diabetes mellitus ORPHA:157835
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect OMIM:613355
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hyperthyroidism, Tachycardia, Goiter OMIM:613239
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary dopamine, Elevated urinary epinephrine, Palpitations, Hemat... ORPHA:94080
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Mydriasis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis... OMIM:619351
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Hypotension ORPHA:79155
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Abnormal circu... ORPHA:251274
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Macroglossia, Decreased circulating T4 level, Bradycardia, Ele... ORPHA:226313
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Streak ovary, Nephrotic syndrome, Increased cir... ORPHA:347
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Hec Syndrome
Developmental cataract, Endocardial fibroelastosis, Cardiomyopathy, Abnormal pupil morphology, Ar... ORPHA:2119
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Glutaric aciduria, Goiter OMIM:231690
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Arachnoid Cyst
Mydriasis, Urinary bladder sphincter dysfunction, Abnormality of the endocrine system, Facial pal... ORPHA:2356
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Nephroblastoma
Aniridia, Hypertension, Hematuria, Nephroblastoma ORPHA:654
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Reduced ejection fraction, Tachycardia, Heart block, Acute kidney injury,... ORPHA:542323
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Porphyria, Acute Intermittent
Hypertension, Urinary retention, Dysuria, Tachycardia, Urinary incontinence, Elevated urinary del... OMIM:176000
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Congenital Fibrinogen Deficiency
Developmental cataract, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy,... ORPHA:335
Mercury Poisoning
Hypertension, Acute kidney injury, Tachycardia, Hypotension ORPHA:330021
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Familial Dysautonomia
Hypertension, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia iridis, Abnorm... ORPHA:1764
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Paragangliomas 4
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Renal cell carcinoma, Elev... OMIM:115310
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Hypertension, Situs inversus totalis, Stage 5 chronic kidney disease, Recurrent uri... OMIM:613095
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney ORPHA:767
Ethylene Glycol Poisoning
Shock, Hypertension, Renal tubular dysfunction, Prolonged QT interval, Atrial fibrillation, Decre... ORPHA:31826
Relapsing Fever
Abnormality of the urinary system, Hematuria, Epistaxis, Tachycardia, Acute kidney injury, Hypote... ORPHA:91547
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia OMIM:614407
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... ORPHA:231625
Porphyria Variegata
Hypertension, Inappropriate antidiuretic hormone secretion, Porphyrinuria, Tachycardia, Increased... ORPHA:79473
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Conotruncal defect, Atrioventricular canal defect, Hypoplasi... ORPHA:40366
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertension OMIM:608600
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Abnormal heart morphology, Tachycardia ORPHA:79264
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Right ventricular hypertrophy, Pulmonary... OMIM:178600
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Xfe Progeroid Syndrome
Hypertension, Proteinuria, Renal insufficiency OMIM:610965
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral valve prolapse, Mitral regurgitation, Polycystic kidney dysplasia, Renal ins... OMIM:173900
Ganglioneuroma
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... ORPHA:251992
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Bradycardia OMIM:608800
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Developmental catarac... OMIM:301050
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Dicarboxylic aciduria, Oliguria, Rhabdomyolysis, Arrhyth... ORPHA:159
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Nephroc... ORPHA:320
Coach Syndrome 2
Hyperechogenic kidneys, Hypertension, Chorioretinal coloboma OMIM:619111
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle,... ORPHA:3426
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension, Leukocoria OMIM:219250
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoacidu... OMIM:618913
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Type II diabetes mellitus ORPHA:247815
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Abnormal urinary color, Tachycardia ORPHA:90033
Rhabdoid Tumor
Renal neoplasm, Hypertension, Hematuria, Internal hemorrhage ORPHA:69077
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... OMIM:615474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Glomerular sclerosis, Tachycard... OMIM:223900
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Bradycardia, Hypotension ORPHA:391673
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:403
Renal Hypoplasia
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... ORPHA:93101
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, Si... OMIM:602088
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Necrotizing myopathy, Myoglobinuria, Ventricular tachycardia, ... ORPHA:423
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:404
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Dysuria, Abnormality of circulating catecholamine level, Urinar... ORPHA:441
Glutamine Deficiency, Congenital
Bradycardia, Flexion contracture, Camptodactyly OMIM:610015
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... ORPHA:100080
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hyperinsulinemic hypoglycemia, Tachycardia, Glycosuria, Pancreatic islet-... ORPHA:263455
Histiocytoid Cardiomyopathy
Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, ... ORPHA:137675
Carney Triad
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Leiomyosarcoma, Paragang... ORPHA:139411
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Vasculitis, Arteritis, ... ORPHA:494424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia ORPHA:90036
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Delayed puberty, Hypocalciuria, Rha... OMIM:263800
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, U... OMIM:608406
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricula... ORPHA:369929
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Restrictive c... OMIM:264800
Fabry Disease
Achalasia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, Hypertension, Abn... ORPHA:324
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Atrioventricular block, Ven... OMIM:115197
Acute Intermittent Porphyria
Hypertension, Proximal muscle weakness in lower limbs, Urinary retention, Dysuria, Porphyrinuria,... ORPHA:79276
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Alagille Syndrome
Hypertension, Ventricular septal defect, Abnormality of the ureter, Nephrotic syndrome, Telangiec... ORPHA:52
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Skeletal muscle hypertrophy, Tachycardia, Bradycardia... OMIM:613327
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... ORPHA:136
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Myoglobinuria, Premature pubarche, Ventricular tachycardia, Torsade ... OMIM:616878
Heme Oxygenase 1 Deficiency
Hypertension, Hematuria, Epistaxis, Nephritis, Chemosis, Diffuse alveolar hemorrhage, Proteinuria OMIM:614034
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy, Hyperinsulinemia ORPHA:363400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Congenital Hypothyroidism
Hypertension, Goiter, Macroglossia, Nephrolithiasis, Abnormal pericardium morphology, Hypogonadis... ORPHA:442
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect, Decreased serum insulin-like g... OMIM:614921
Aa Amyloidosis
Adrenal insufficiency, Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morphology, ... ORPHA:85445
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Increased urinary potassium... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Skeletal muscle atrophy, Pri... OMIM:219080
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Palpi... ORPHA:97287
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Elevated urinary do... ORPHA:276621
Plague
Mydriasis, Conjunctival hyperemia, Endocarditis, Tachycardia, Hematemesis, Arrhythmia, Hypotension ORPHA:707
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Elevated urinary do... ORPHA:29072
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Nephrolithiasis ORPHA:2833
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension OMIM:613623
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Anterior polar cataract, Nephrotic syndro... OMIM:104200
Neuroblastoma, Susceptibility To, 1
Hypertension, Elevated urinary vanillylmandelic acid, Horner syndrome, Elevated urinary catechola... OMIM:256700
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Cardiomyopathy, C... ORPHA:90970
Porphyria
Dupuytren contracture, Hypertension, Abnormal urinary color ORPHA:738
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Abnormality of skeletal muscle fiber size, Maternal di... ORPHA:79083
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Decreased nerve conduction velocity, Bradycardia, Hypsarrhythmia, EEG abnormalit... ORPHA:565624
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Palpitations, Puberty ... ORPHA:525731
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Tachycardia, Goiter, Thyroid hyperplasia OMIM:609152
Inhalational Botulism
Mydriasis, Urinary retention ORPHA:254504
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Neuroleptic Malignant Syndrome
Hypertension, Myoglobinuria, Hypertensive crisis, Tachycardia, Bradycardia, Rhabdomyolysis, Urina... ORPHA:94093
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... ORPHA:100082
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612926
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial diplegia, Brady... ORPHA:70
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect... ORPHA:485405
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hypertension, Maternal diabetes, Hyperinsulinemia OMIM:604367
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Abnormal heart morphology, Pulmonary arterial ... ORPHA:206572
Tularemia
Conjunctival hyperemia, Tachycardia, Conjunctivitis ORPHA:3392
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hyperaldosteronism, Hyperca... OMIM:613677
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Myositis, E... ORPHA:183
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality... ORPHA:77296
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hematuria, Proteinuria, Ren... ORPHA:71273
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... ORPHA:90795
Liddle Syndrome 1
Hypertension OMIM:177200
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Mitral valve prolapse, Pituitary growth hormone cell adenoma, Decreased glomerular ... ORPHA:730
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Bradycardia OMIM:618775
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Atrioventr... ORPHA:371428
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Weakness of facial musculature, Glomerular sclerosis, Cardiomyopath... ORPHA:247691
Alport Syndrome
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... ORPHA:63
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... ORPHA:57777
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Conjunctivitis, Heavy proteinuria, Mitral regurgitation, Nephrotic s... ORPHA:505248
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Palpitations, Re... ORPHA:892
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnormal cardiovascu... ORPHA:79086
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Astigmatism, Cerebral ische... OMIM:242900
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Reduced ejection fraction, Systolic heart murmur, Atrial fibri... ORPHA:980
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Tachycardia OMIM:229700
Simple Cryoglobulinemia
Hypertension, Pericarditis, Nephrotic syndrome, Abnormal heart morphology, Nephritis, Raynaud phe... ORPHA:91139
Renal Hypodysplasia/Aplasia 1
Hypertension, Renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Renal sodium wasting, Orthostatic hypotension, Elevated ... ORPHA:556037
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Diabetes insipidus, Insulin-r... OMIM:203800
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... ORPHA:1457
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Pericardial effusion, Glomerular sclerosis, Stage 5 chronic kidney di... OMIM:619487
Oligomeganephronia
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... ORPHA:2260
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Myopathy, Tubulointerstitial nephritis, Nephrotic syndrome, ... ORPHA:85450
Arterial Tortuosity Syndrome
Hypertension, Congenital diaphragmatic hernia, Aortic regurgitation, Ventricular hypertrophy, Tel... OMIM:208050
Bardet-Biedl Syndrome
Hypertension, Skeletal muscle atrophy, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism,... ORPHA:110
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... ORPHA:90793
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Renal sodium wasting, Orthostatic hypotension, Elevated ... ORPHA:556030
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:95619
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Cholera
Abnormality of renal excretion, Hypovolemic shock, Decreased urine output, Tachycardia, Acute kid... ORPHA:173
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... ORPHA:758
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... OMIM:300257
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Thyroid hypoplasia, Macroglossia, Pituitary hypothyroidism, Decreased thyroid-stimulating... ORPHA:90674
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Sepsis In Premature Infants
Reversible renal failure, Tachycardia, Bradycardia, Oliguria, Hypotension ORPHA:90051
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Bickerstaff Brainstem Encephalitis
Mydriasis, Decreased motor nerve conduction velocity, Weakness of facial musculature, Limb muscle... ORPHA:79138
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:98853
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Caudal Regression Sequence
Hypertension, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Maternal diabetes,... ORPHA:3027
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Myositis, Tachycardia, Recurrent urinary tract infections, Glomerulonephritis... ORPHA:36234
Juvenile Paget Disease
Hypertension ORPHA:2801
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Type II diabetes mellitus OMIM:618620
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... ORPHA:189427
Ectopic Aldosterone-Producing Tumor
Hypertension, Decreased circulating renin level, Epistaxis, Renal cortical adenoma, Glucocortocoi... ORPHA:231632
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... ORPHA:101082
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Microscopic hematuria, Oliguria, Ren... ORPHA:319213
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
EEG abnormality, Limb hypertonia, Hypotension OMIM:618480
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Renal salt was... OMIM:264350
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Atypi... ORPHA:100075
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abn... ORPHA:99827
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Decreased circulating aldosterone level, Increased circulating renin level, H... OMIM:203400
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Encephalitis Lethargica
Urinary incontinence, Bradycardia, Upper limb muscle weakness ORPHA:83600
Buschke-Ollendorff Syndrome
Hypertension, Generalized limb muscle atrophy, Renal insufficiency, Flexion contracture ORPHA:1306
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Myopathy, Cataract, Abnormal calcium-phosphate regulating hormone level, Neph... ORPHA:2238
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Increased urinary potassium, Hypocalciu... OMIM:607364
Renal Agenesis
Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Chronic kidney disease, Delayed puberty OMIM:208060
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Proximal amyotrophy, Type II... ORPHA:189439
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Blau Syndrome
Hypertension, Pericarditis, Flexion contracture of toe, Nongranulomatous uveitis, Uveitis, Catara... OMIM:186580
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Pulmonary arterial hypertension, Oliguria, Conge... ORPHA:220393
Joubert Syndrome 14
Hypertension, Renal cyst OMIM:614424
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pulmonary ar... ORPHA:1830
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Hypospadias, Cataract, 3-Methylglutaconic aciduria, Ar... OMIM:614052
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Orthostatic hypotension, Adrenocorticotropin receptor de... OMIM:231550
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Central diabet... ORPHA:91354
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Cataract, Calcium n... ORPHA:36913
Denys-Drash Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Congenital diaphragmatic he... OMIM:194080
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Monosomy 18P