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Gene: Pdc MGI:98090

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood 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
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Trimethylaminuria
Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Abnormal chorioretinal morphology, Co... ORPHA:225
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract... OMIM:618815
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Variegate Porphyria
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph... OMIM:176200
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Coproporphyria, Hereditary
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... OMIM:121300
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
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
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Third degree atrioventricular ... OMIM:601419
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Cardiomyopathy, Organic aciduria, Supraventricula... OMIM:255100
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hyperten... ORPHA:1345
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Infant Botulism
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis ORPHA:178478
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury, Mydriasis ORPHA:43116
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:610947
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont... ORPHA:263297
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Wound Botulism
Urinary retention, Cardiac arrest, Mydriasis ORPHA:178475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Increased urine succinate level, Congestive heart failure, Bradycardia, ... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... OMIM:620265
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... OMIM:612098
Iatrogenic Botulism
Orthostatic hypotension, Urinary retention, Mydriasis ORPHA:254509
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Botulism
Arrhythmia, Urinary retention, Mydriasis ORPHA:1267
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Foodborne Botulism
Arrhythmia, Urinary retention, Mydriasis ORPHA:228371
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Type I diabete... ORPHA:276575
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Rhabdomyolysis, Ventricular tachy... OMIM:212138
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations... ORPHA:276580
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Miosis, Cardiac conduction abnormality, Congestive h... ORPHA:466677
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Hyperinsulinemic hypoglycemia, Excessive insulin response to ... ORPHA:276556
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... OMIM:603373
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Liddle Syndrome
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:615703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Cataract, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb mus... OMIM:609286
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... ORPHA:275555
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong... ORPHA:542306
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... ORPHA:368
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, M... ORPHA:860
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Hypertension, Atrial septal defect, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemia, Syncope, ... ORPHA:324575
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Senior-Loken Syndrome
Cataract, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Nephronophthisis ORPHA:3156
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Rhabdomyolysis, Tachycardia, Hypotension OMIM:145600
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi... ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Renal insufficiency, Arrhythmia, Cardiomyopathy ORPHA:3222
Lipoyltransferase 1 Deficiency
Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria OMIM:616299
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib... ORPHA:439232
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Shortened ... OMIM:261740
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cln3 Disease
Cataract, Increased circulating androgen concentration, T-wave inversion, Bradycardia, Left ventr... ORPHA:228346
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Amyloidosis, Familial Visceral
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy OMIM:105200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle hypertrophy, Insulin-re... ORPHA:280356
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Abnormal mitral valve morphology, Nephrotic syndrome, Hypertension, Type I diabetes ... ORPHA:1192
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Ventricular... OMIM:601005
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Proximal limb muscle stiffness, Hypertension, Asymmetric limb mus... OMIM:184850
Tetanus
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... ORPHA:3299
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... OMIM:602668
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Corneal opacity, Congenital diaphragmatic hernia, Stage 5 chron... OMIM:166300
Potocki-Shaffer Syndrome
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism ORPHA:52022
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter OMIM:188580
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithias... OMIM:619365
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, EEG abnormality, Abnormal T-wav... ORPHA:2131
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... OMIM:603278
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Combined Oxidative Phosphorylation Deficiency 54
Tonic pupil, Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness OMIM:619737
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes... ORPHA:97229
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Hereditary Coproporphyria
Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Porphyrinuria, Increased urinar... ORPHA:79273
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Hypertension, Abnormal renal corticomedullary differentiation, Left ventricu... OMIM:616733
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Alagille Syndrome 2
Renal insufficiency, Posterior embryotoxon, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria,... OMIM:610205
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge... ORPHA:94080
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Insulin-resistant diabetes mellitus OMIM:613877
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Congestive heart failure ORPHA:90037
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Myopathy, Hypertension, Muscular dystrophy, Lower lim... OMIM:615980
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... ORPHA:31825
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Hypotension ORPHA:79155
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar... ORPHA:2119
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... ORPHA:1349
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... ORPHA:347
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Mercury Poisoning
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma, Aniridia ORPHA:654
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... OMIM:176000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Congenital Fibrinogen Deficiency
Tachycardia, Developmental cataract, Left ventricular hypertrophy, Micropenis, Internal hemorrhag... ORPHA:335
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Cong... ORPHA:49827
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Paroxysmal Hemicrania
Hypertension, Conjunctival hyperemia, Diabetes mellitus, Miosis ORPHA:157835
Arachnoid Cyst
Facial palsy, Urinary incontinence, Subarachnoid hemorrhage, Abnormality of the endocrine system,... ORPHA:2356
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... OMIM:115310
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension, Decreased urinary potassium OMIM:611489
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Hypertension, Goiter OMIM:231690
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Joint contracture of the 5th finger, Atrioventricular block OMIM:614407
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormality of the kid... ORPHA:1764
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Porphyria Variegata
Proximal muscle weakness in upper limbs, Neurogenic bladder, Tachycardia, Chronic kidney disease,... ORPHA:79473
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Relapsing Fever
Tachycardia, Epistaxis, Hematuria, Abnormality of the urinary system, Hypotension, Acute kidney i... ORPHA:91547
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Abnorma... ORPHA:320
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Tachycardia, Abnormal heart morphology ORPHA:79264
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension ORPHA:767
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricula... ORPHA:40366
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... ORPHA:31826
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys, Chorioretinal coloboma OMIM:619111
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, L... OMIM:301050
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Rhabdomyolysis, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypoten... ORPHA:159
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Cutis Marmorata Telangiectatica Congenita
Hypertension, Leukocoria, Telangiectasia OMIM:219250
Liddle Syndrome 1
Hypertension OMIM:177200
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel... ORPHA:100080
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... ORPHA:494424
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph... ORPHA:324
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypertension, Internal hemorrhage ORPHA:69077
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... ORPHA:369929
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Type II diabetes mellitus, Mydriasis ORPHA:247815
Pure Autonomic Failure
Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine ... ORPHA:441
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Recurrent corneal erosions, Glomerular sclero... OMIM:223900
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... ORPHA:136
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... ORPHA:3426
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Adrenocortical adenoma, P... ORPHA:139411
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension ORPHA:369873
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hematuria, Hypertension, Second degree atrioventricu... OMIM:617021
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Congestive heart failure ORPHA:90033
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Pancreatic islet-cell hyperpl... ORPHA:263455
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... OMIM:264800
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia... OMIM:263800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Acute rhabdomyolysis, Premature thelarche, Cardiac arrest, Rhabdomyolysis, Ventricular... OMIM:616878
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... ORPHA:29072
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Acute Intermittent Porphyria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Tachycardia, Dysuria, U... ORPHA:79276
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia ORPHA:90036
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Alagille Syndrome
Keratoconus, Telangiectasia of the skin, Ventricular septal defect, Corneal dystrophy, Renal hypo... ORPHA:52
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Hyperinsulinemia, Hypertension ORPHA:363400
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defect, Sudden card... OMIM:614921
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morphology, Nephro... ORPHA:85445
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Horner syndrome, Abnormali... OMIM:256700
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... OMIM:219080
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho... ORPHA:97287
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Chemosis, Nephritis OMIM:614034
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Hypospadias, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... OMIM:620351
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Hypsarrhythmia, Congenital foot contractures, EEG abnormalit... ORPHA:565624
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... ORPHA:485405
Plague
Tachycardia, Mydriasis, Hematemesis, Endocarditis, Hypotension, Arrhythmia, Conjunctival hyperemia ORPHA:707
Stiff Skin Syndrome
Type II diabetes mellitus, Hypertension, Nephrolithiasis ORPHA:2833
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L... OMIM:104200
D-Glyceric Aciduria
Aminoaciduria, Hypsarrhythmia, Bradycardia, Micropenis OMIM:220120
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Pediatric-Onset Graves Disease
Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyrotoxicosis with... ORPHA:525731
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury OMIM:618886
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Congestive heart failure, In... ORPHA:79083
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100082
Miller Fisher Syndrome
Anisocoria, Mydriasis, Facial palsy, EEG with generalized slow activity ORPHA:98919
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Tularemia
Tachycardia, Conjunctivitis, Conjunctival hyperemia ORPHA:3392
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Inhalational Botulism
Urinary retention, Mydriasis ORPHA:254504
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d... OMIM:604367
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... OMIM:160565
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul... OMIM:613677
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Rhabdomyolysis, Hypertension,... ORPHA:94093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... ORPHA:71273
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... ORPHA:371428
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... ORPHA:90795
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Abnormal renal corticomedullary differentiation, Cere... OMIM:617397
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Abnormality of the kidney, Perifascic... ORPHA:206572
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Weakness of facial musculature, Raynaud phenomenon, Pun... ORPHA:247691
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Recurrent intrapulmonary hemorrhage, ... ORPHA:183
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Pancr... ORPHA:892
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Pos... ORPHA:63
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia OMIM:610768
Intestinal Botulism
Mydriasis ORPHA:178481
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Ventricular tac... OMIM:300952
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol OMIM:229700
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsulinemia... ORPHA:79086
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... ORPHA:556037
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Bradycardia OMIM:608800
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndrome, H... ORPHA:110
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Cataract, Dilated cardiomyopathy, Hypsarrhythmia, Left ventricular hypertrophy OMIM:618321
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Renal Hypodysplasia/Aplasia 1
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:203800
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... OMIM:619487
Cholera
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Acute kidney injury,... ORPHA:173
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... ORPHA:556030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldostero... OMIM:264350
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit... ORPHA:85450
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... ORPHA:91139
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Hypsarrhythmia, Congenital contracture, Type I diabetes m... OMIM:618397
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... ORPHA:231632
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Sec... ORPHA:2260
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... ORPHA:3027
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... OMIM:120330
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100075
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Macroglossia, Bradycardia,... ORPHA:90674
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Sepsis In Premature Infants
Tachycardia, Oliguria, Bradycardia, Hypotension, Reversible renal failure ORPHA:90051
Juvenile Paget Disease
Hypertension ORPHA:2801
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Abnormal pupil morphology, Decreased nerve ... ORPHA:101082
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Anisocoria, EEG abnormality, Weakness of... ORPHA:79138
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Renal sa... OMIM:203400
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism, Corneal dystrophy OMIM:617763
Bacterial Toxic-Shock Syndrome
Shock, Renal insufficiency, Recurrent urinary tract infections, Myositis, Glomerulonephritis, Tac... ORPHA:36234
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Myocarditis, Oliguria, Subconjunctival hemorrhage, Bradycardia, Hypot... ORPHA:319213
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Wagro Syndrome
Cataract, Proteinuria, Corneal opacity, Hypertension, Aniridia, Nephroblastoma OMIM:612469
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Tubuloin... OMIM:617595
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Type II diabetes mellitus, Myocardial infarction OMIM:615812
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia, Urinary incontinence ORPHA:83600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec... OMIM:231550
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... ORPHA:220393
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Transient ischemic attack, Elevated circulating thyroid-stimula... OMIM:242900
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Facial palsy, Limb hypertonia OMIM:259720
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Transient ischemic attack, Minimal change glomeru... ORPHA:1830
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Arteriosclerosis, Severe Juvenile
Hypertension, Chronic kidney disease, Myocardial infarction, Delayed puberty OMIM:208060
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Cataract, Proteinuria, Hypo... OMIM:609049
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Internal hemorrhage, Per... ORPHA:99827
Perry Syndrome
Hypotension ORPHA:178509
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Increased circulating r... OMIM:612780
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Abnormal... ORPHA:36913
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar... ORPHA:199244
Seckel Syndrome 10
Ventricular hypertrophy, Diabetes mellitus, Elevated circulating luteinizing hormone level, Conge... OMIM:617253
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Tend... OMIM:186580
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Werner Syndrome
Renal neoplasm, Skeletal muscle atrophy, Cataract, Telangiectasia of the skin, Myocardial infarct... ORPHA:902
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Hypospadias, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic cardio... OMIM:614052
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Monosomy 18P
Hypertension, Hypothyroidism ORPHA:1598
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Nipah Virus Disease
Hypotension ORPHA:99825
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Delay... ORPHA:251004
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Analbuminemia
Hypotension OMIM:616000
Hurler Syndrome
Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Corneal opacity, Macro... ORPHA:93473
Adult Acute Respiratory Distress Syndrome
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension ORPHA:70578
Familial Hypoaldosteronism
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r... ORPHA:427
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Lower limb hypertonia, Hypertension ORPHA:2169
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... OMIM:263400
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hy... OMIM:219090
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Macroglossia, Astigmatism, Hypotension, Atrial septal defect, Patent f... OMIM:615668
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism ORPHA:449291
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... OMIM:613159
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... OMIM:619758
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Keratoconus, Congenital diaphragmatic hernia, Flex... OMIM:208050
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol ORPHA:348
Coach Syndrome 1
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr... OMIM:216360
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,... ORPHA:653
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Foot joint contr... ORPHA:90321
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Glycogen Storage Disease Ia
Decreased muscle mass, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperten... OMIM:232200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Congenital Isolated Acth Deficiency
Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right bundle branch block, ... OMIM:614008
Cardiac-Urogenital Syndrome
Tachycardia, Penoscrotal hypospadias, Cor triatrium sinister, Ventricular septal defect, Congenit... OMIM:618280
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst OMIM:614424
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Imerslund-Gräsbeck Syndrome
Tachycardia, Proteinuria ORPHA:35858
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Scrub Typhus
Myocarditis, Renal insufficiency, Anterior uveitis, Hypotension ORPHA:83317
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... OMIM:263200
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Decreased serum testosterone concentration, Tachycardia, Streak ovary, Hyp... ORPHA:1772
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Hypertension, Torticollis, Hypothyroidism ORPHA:98808
Arterial Tortuosity Syndrome
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ... ORPHA:3342
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture ORPHA:39812
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... ORPHA:100078
Sickle Cell Disease
Hematuria, Hypertension, Renal insufficiency, Cardiomegaly OMIM:603903
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chronic k... ORPHA:1855
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... OMIM:221900
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endot... ORPHA:209959
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... ORPHA:84081
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, EEG abno... ORPHA:58
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased circulating andr... ORPHA:90791
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Endocarditis, Hematuria, Hypotension... ORPHA:549
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal... ORPHA:254892
Lead Poisoning
Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nephritis, Hypertension, De... ORPHA:330015
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease ORPHA:542643
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi... ORPHA:363618
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Abnormal atrioventricular... ORPHA:280365
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury OMIM:235400
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Lowe... ORPHA:97297
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi... OMIM:232240
Marburg Hemorrhagic Fever
Shock, Renal insufficiency, Tachycardia, Pericarditis, Hypovolemia, Uveitis, Capillary leak, Subc... ORPHA:99826
Xfe Progeroid Syndrome
Hypertension, Renal insufficiency, Proteinuria, Corneal scarring OMIM:610965
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... ORPHA:99147
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension ORPHA:79126
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Beta-Ketothiolase Deficiency
Hypertension, Ketonuria, Hypotension ORPHA:134
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphr... OMIM:309801
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Mirizzi Syndrome
Dark urine, Tachycardia ORPHA:521219
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Cataract, Unilateral renal agenesis, Congestive heart failure, Cardiac myxom... OMIM:181270
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Ectopia lentis, Mitral valve prolapse, Hypertension, Keratoconjunctivitis sicca OMIM:616914
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Cataract, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal arte... OMIM:617913
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py... ORPHA:2036
Bardet-Biedl Syndrome 1
Diabetes mellitus, Cataract, Abnormality of the kidney, Nephrogenic diabetes insipidus, Hypertens... OMIM:209900
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood ... ORPHA:90041
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Cataract OMIM:617248
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Skeletal muscle hypertrophy, Hypertension,... OMIM:151660
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... ORPHA:1358
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Mydriasis OMIM:619727
Myhre Syndrome
Abnormal penis morphology, Cataract, Hypospadias, Precocious puberty, Epispadias, Skeletal muscle... ORPHA:2588
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Cataract, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:79443
Low Phospholipid-Associated Cholelithiasis
Hypertension, Diabetes mellitus ORPHA:69663
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension, Achalasia, Adrenal insufficiency OMIM:615510
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration ORPHA:36238
Coats Disease
Leukocoria, Retinal telangiectasia OMIM:300216
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Co... ORPHA:217085
Acute Radiation Syndrome
Cataract, Hypotension, Telangiectasia ORPHA:454831
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Delayed puberty, ... OMIM:232220
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Co... ORPHA:217093
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,... ORPHA:3452
Meningococcal Meningitis
Shock, Renal insufficiency, Hypotension ORPHA:33475
Yellow Fever
Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Hematemesis, Capillary leak, Red... ORPHA:99829
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Colchicine Poisoning
Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, Hypotension, C... ORPHA:31824
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Renal insufficiency, Orthostatic hypotension, Adrenal hypop... ORPHA:95409
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Corneal opacity, Decreased ... ORPHA:580
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... ORPHA:805
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Cataract, Camptodactyly of finger, Facial palsy, K... ORPHA:90340
Classic Homocystinuria
Gastrointestinal hemorrhage, Cataract, Pulmonary embolism, Ectopia lentis, Intracranial hemorrhag... ORPHA:394
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi... ORPHA:428
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Pheochromocytoma, Multiple renal cysts, Paraganglioma OMIM:193300
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decrease... ORPHA:79102
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Con... ORPHA:447
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Hypoplasia ... ORPHA:3163
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mi... OMIM:611962
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... ORPHA:99125
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Cataract, Proteinuria, Abnormal auditory evoked potentials,... OMIM:216400
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve conduction... OMIM:133540
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hypotension, ... ORPHA:100079
Cockayne Syndrome
Skeletal muscle atrophy, Miosis, Urinary incontinence, Congenital contracture, Lentiglobus, Renal... ORPHA:191
Neurofibromatosis, Type I
Rhabdomyosarcoma, Hypsarrhythmia, Hypertension, Pheochromocytoma, Renal artery stenosis, Lisch no... OMIM:162200
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... ORPHA:48435
Hallermann-Streiff Syndrome
Cataract, Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonary arterial hypertension, ... OMIM:234100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculiti... OMIM:615688
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Atrial septal defect, Bicuspid aortic valve, Left atrial ... OMIM:300855
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Renal neoplasm, Abnormal circulating leptin co... ORPHA:79474
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha... OMIM:232300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Cardiac arrest, Dilated cardiomyopathy, Hypsarrhythmia, EEG abnormality, 3-Methylgluta... ORPHA:20
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Elevated circulatin... ORPHA:168558
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Alexander Disease
Microcoria OMIM:203450
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Sinus bradycardia, Astigmatism, Achalasia, Ineffective esophageal peristalsis OMIM:619482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Apert Syndrome
Hypertension, Corneal erosion ORPHA:87
Aicardi-Goutieres Syndrome 7
Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Nephrotic syndrome, Hypertension, Hy... OMIM:615846
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Miosis, Hypotension, Limb hypertonia OMIM:608643
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Decreased circ... ORPHA:199299
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Renal steatos... ORPHA:391665
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic ra... ORPHA:544482
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Decreased ser... OMIM:301068
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hypogonadotropic ... ORPHA:90794
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Hypospadias, Hypotension ORPHA:439822
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Aortic valve... ORPHA:740
Leptospirosis
Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Cellular urinary casts... ORPHA:509
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale,... OMIM:618653
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension ORPHA:292
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal tubuloi... ORPHA:904
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger, Hypotension ORPHA:2135
Degcags Syndrome
Recurrent urinary tract infections, Tachycardia, Hypospadias, Ventricular septal defect, Bilatera... OMIM:619488
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Facial palsy, Portal hypertension, Abno... ORPHA:797
Acute Transverse Myelitis
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Upper limb muscle weaknes... ORPHA:139417
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis, Achalasia, Abnormality of the adrenal glands ORPHA:289483
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... ORPHA:244242
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Adrenal calcif... ORPHA:85138
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Thyroiditis, Nephrocalci... ORPHA:79259
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Leukocoria, Displacement of the urethra... ORPHA:1556
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, V... OMIM:194050
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Superficial Siderosis
Subarachnoid hemorrhage, Functional abnormality of the bladder, Anisocoria, Lower limb muscle wea... ORPHA:247245
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Myhre Syndrome
Cataract, Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skelet... OMIM:139210
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Glom... ORPHA:97685
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Neurofibromatosis Type 1
Cataract, Corneal opacity, Abnormality of the upper urinary tract, Abnormality of the endocrine s... ORPHA:636
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrioventricular bl... OMIM:619573
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Neph... ORPHA:534
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Abnormality of the parathyroid gland, Abnormal pupil morphology, Li... ORPHA:2969
Duane Retraction Syndrome
Skeletal muscle atrophy, Central heterochromia, Ectopic kidney, Abnormal pupil morphology, Microc... ORPHA:233
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr... OMIM:616580
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Hypsarrhythmia, Hypertension, Atrial septal defect, Ureteropelvic junction... OMIM:300896
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cataract, Stage 5 chronic kidney disease, Renal cyst, Macroglossia, Hyperte... OMIM:266920
Orofaciodigital Syndrome I
Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:311200
Trichinellosis
Facial palsy, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjuncti... ORPHA:863
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... OMIM:602535
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Cataract, Hypospadias, Renal ag... OMIM:270400
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Polyuria, Renal salt wasting, Increased urinary potassium,... OMIM:601678
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Hypogonadotropic hypogonadism, Levator palpebrae superioris atroph... ORPHA:45358
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Cataract, Polyuria, Developmental cataract, Hypertension, Type I diabete... OMIM:606721
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Lef... ORPHA:51608
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype... ORPHA:731
Hereditary Angioedema Type 1
Limbal edema, Hypotension ORPHA:100050
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Rhabdomyolysis, Oliguria, ST segment depression, Hypote... ORPHA:466650
Retinoblastoma
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Leiomyo... ORPHA:790
Yunis-Varon Syndrome
Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cardiomegaly, Renovascular hypert... ORPHA:3472
Cranioectodermal Dysplasia 2
Atrial septal defect, Renal insufficiency, Renal cyst, Hypertension, Left ventricular hypertrophy... OMIM:613610
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension... OMIM:220111
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... ORPHA:881
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Buph... OMIM:613150
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Atrial septal defect, Vesicoureteral reflux, Hypothyroidism, Hypoparath... ORPHA:567
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... OMIM:175780
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Legius Syndrome
Cataract, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, Male urethral me... ORPHA:137605
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Achalasia OMIM:300858
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:241200
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... OMIM:613550
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Renal salt wasting, Abnormal urine potassium concentration, Primary adrena... ORPHA:275761
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Keratitis, ... OMIM:308205
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Abnormal pupillary light reflex, Anisocoria, Distal am... ORPHA:99949
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart v... ORPHA:286
Mowat-Wilson Syndrome
Cataract, Hypospadias, Abnormality of the kidney, Ventricular septal defect, Generalized muscle h... OMIM:235730
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Abnormal pupil morphology, Flexion contracture, Micr... ORPHA:261552
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Knobloch Syndrome 1
Duplicated collecting system, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Ir... OMIM:267750
Retinoblastoma
Vitreous hemorrhage, Leukocoria OMIM:180200
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Norrie Disease
Diabetes mellitus, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Sclerocorne... ORPHA:649
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Facial Spasm
Anisocoria OMIM:134300
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Adrenal insufficiency, Hypotension, ... ORPHA:90062
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphrag... OMIM:613406
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Rieger anomaly, Hypospadias, Ventricular septal defect, Precocious puberty... OMIM:194190
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Sponastrime Dysplasia
Cataract, Hypospadias, Precocious puberty, Microcoria, Hypothyroidism, Congenital aphakia ORPHA:93357

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 Pdc

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 Pdc.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pdcd2tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Pdcd2tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pdcd2tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pdcd2tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pdcd2tm1b(EUCOMM)Wtsi PMC5827107
Conditional inactivation of PDCD2 induces p53 activation and cell cycle arrest. Biology open (August 2014) Pdcd2tm1c(EUCOMM)Wtsi PMC4163659

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pdctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pdctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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