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Genes Phenotypes Help, News, Blog

Gene: Calca MGI:2151253

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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:
calcitonin/calcitonin-related polypeptide, alpha
Synonyms:
Ct,  CT,  alpha CGRP,  CA,  Cgrp,  Ctn,  Calc

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 Calca 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 Calca by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Variegate Porphyria
Tachycardia, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphob... OMIM:176200
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous syste... ORPHA:85447
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Orthostatic Intolerance
Orthostatic tachycardia, Elevated urinary norepinephrine level OMIM:604715
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Stage 3 chronic kidney disease, Pathologic fracture, Elevated circulating cre... OMIM:620366
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous syste... ORPHA:369873
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio... OMIM:179800
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Abnormal autono... ORPHA:441
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Nephrolithiasis OMIM:617343
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration, Increased bone mineral density, O... OMIM:109130
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Organic aciduria, Cardiomyopathy OMIM:255100
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormality of the urinary system, Abnormal cortical bone morphology ORPHA:2204
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... OMIM:612287
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... OMIM:612286
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Familial Isolated Hyperparathyroidism
Osteopenia, Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypophospha... ORPHA:99879
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Hypercalcemia ORPHA:2668
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Micropenis, Tachycardia, Hyp... OMIM:613870
Tetanus
Elevated urinary norepinephrine level, Autonomic bladder dysfunction, Abnormal autonomic nervous ... ORPHA:3299
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Renal hypophosp... ORPHA:1652
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration,... OMIM:613239
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Hypoplasia of penis, Abnormal autonomic nervous system physiology ORPHA:168593
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ... ORPHA:276556
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Excessive insulin response to glucagon test, Palpitations, ... ORPHA:324575
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia ORPHA:276608
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, In... ORPHA:94089
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Leber Hereditary Optic Neuropathy
Optic atrophy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Hyperthyroidism, Goiter OMIM:188580
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Abnormal urinary color, Congestive heart failure ORPHA:90037
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Myoglobinuria OMIM:145600
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri... OMIM:161900
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Riboflavin Transporter Deficiency
Hypogonadism, Abnormal cranial nerve morphology, Facial palsy, Abnormal autonomic nervous system ... ORPHA:97229
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone min... ORPHA:36913
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... ORPHA:368
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Multiple System Atrophy
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Hypop... OMIM:241530
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Syncope, Orthostatic hypotension, Abnormal autonom... ORPHA:71273
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Hereditary Coproporphyria
Nephropathy, Elevated urinary delta-aminolevulinic acid, Dark urine, Increased urinary porphobili... ORPHA:79273
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Hypercalciuria, Micropenis, Craniosynostosis, Hypospadias OMIM:614732
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Acute kidney injury, Hypopituitarism, Cerebral ischemi... ORPHA:449285
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:98933
Hydroxykynureninuria
Tachycardia, Hypotension, Renal tubular acidosis ORPHA:79155
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia ORPHA:89937
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catec... OMIM:115310
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Variant Abeta2M Amyloidosis
Chronic kidney disease, Reduced left ventricular ejection fraction, Renal amyloidosis, Abnormal a... ORPHA:314652
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, Calvarial osteos... OMIM:259700
Porphyria Variegata
Chronic kidney disease, Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilin... ORPHA:79473
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Hypocalcemia, Nephrolithiasis, Hy... ORPHA:93160
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Nephrolithiasis, Polyuria, Calva... OMIM:617994
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Hydronephrosis, Abnormal autonomic nervous system physiology, Diabete... OMIM:598500
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Renal hypophospha... ORPHA:289176
Al Amyloidosis
Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with compensatory tachycard... ORPHA:85443
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Hydroxyprolinuria, Sclerosis of skull base, Increased susceptibility... OMIM:602080
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:227510
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insuffi... OMIM:600740
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Abnormal urinary color ORPHA:90036
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Tac... OMIM:176000
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Optic disc pallor, Hypergonadotropic hypogonadism OMIM:619737
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Acute kidney injury, Reduced left ventricular ejection fraction, Arrhythmia, Decreas... ORPHA:542323
Majeed Syndrome
Osteomyelitis, Increased susceptibility to fractures, Proteinuria, Synovitis, Glomerulopathy, Inc... ORPHA:77297
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolith... ORPHA:405
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Illum Syndrome
Bradycardia OMIM:208155
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Abnormal urinary color, Congestive heart failure ORPHA:90033
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Relapsing Fever
Epistaxis, Hypotension, Acute kidney injury, Abnormality of the urinary system, Hematuria, Tachyc... ORPHA:91547
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Hypocalcemia, Sparse bone tr... OMIM:264700
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Myotonic Dystrophy 2
Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricular contraction, Elevate... OMIM:602668
Parkinsonism-Dystonia 2, Infantile-Onset
Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology OMIM:618049
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Mercury Poisoning
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:330021
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest, Diabetes ... ORPHA:49827
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Stiff-Person Syndrome
Tachycardia, Hypertension, Diabetes mellitus OMIM:184850
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Dysosteosclerosis
Increased bone mineral density, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... ORPHA:1782
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... OMIM:171400
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous sy... ORPHA:83601
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Proteinuria, Renal Fanconi syndr... ORPHA:263455
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Increased bone mineral density, Joint hypermobility, Limitation of knee mobili... OMIM:614856
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Serotonin Syndrome
Acute kidney injury, Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Hyper... ORPHA:43116
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Oligosacchariduria, Abnormal bone ... ORPHA:163649
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... OMIM:231550
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol OMIM:229700
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventric... OMIM:616878
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Pathologic fracture, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated ur... OMIM:259900
Oncogenic Osteomalacia
Renal phosphate wasting, Pathologic fracture, Increased susceptibility to fractures, Fibrous dysp... ORPHA:352540
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosph... OMIM:241500
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Optic disc pallor ORPHA:79264
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... ORPHA:139411
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Proteinuria, Arrhythmi... ORPHA:94093
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Hypotension, Acute kidney injury, Methylmalonic aciduria, Cystathion... OMIM:277400
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Nephrocalcinosis, Pathologic fracture, Hyperphosphaturia, Hip contracture, Knee flexi... OMIM:156400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Osteomalacia, Increased susc... ORPHA:289157
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... OMIM:169500
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Palpitations, Ventricular tachycar... OMIM:263800
Familial Dysautonomia
Optic atrophy, Renal insufficiency, Glomerulopathy, Orthostatic hypotension, Abnormality of the k... ORPHA:1764
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Congenital Fibrinogen Deficiency
Micropenis, Tachycardia, Internal hemorrhage ORPHA:335
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia OMIM:613205
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... OMIM:612462
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Arrhythmia, Ventricular tachycardia ORPHA:159
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular phosphate excretion, I... OMIM:211900
Acute Intermittent Porphyria
Urinary retention, Dysuria, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, E... ORPHA:79276
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Infantile Myofibromatosis
Limitation of joint mobility, Bone cyst, Abnormality of the kidney, Hypercalcemia, Osteolysis ORPHA:2591
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur... ORPHA:423
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... OMIM:277440
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Polyuria, Calcinosis, Hyperca... OMIM:239200
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Blue Diaper Syndrome
Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia, Blue urine ORPHA:94086
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Nephrolithiasis ORPHA:163693
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Wolfram Syndrome
Nephropathy, Optic atrophy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male ... ORPHA:3463
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Tularemia
Tachycardia ORPHA:3392
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... OMIM:223360
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosi... OMIM:601678
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, H... ORPHA:79444
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Congestive heart... ORPHA:466677
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Hydronephrosis, Pulmonary arterial hyperten... OMIM:614921
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Heart murmur, Hypoparathyroidism, Tachycardia, Pulmonic stenosis ORPHA:3426
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Tachycardia ORPHA:485405
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Limitation of joint mobility, Rickets, Generalized osteos... ORPHA:89936
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach... OMIM:300952
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Hypothyroidism, Abnormal autono... ORPHA:93256
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Decreased urine output, Tachycardia, Abnorma... ORPHA:173
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures OMIM:241410
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Abnormal autonomic ne... OMIM:105210
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Abnormal nerve conduction velocity, Abnormal autonomic nervous system physi... OMIM:243000
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia OMIM:613327
Melkersson-Rosenthal Syndrome
Facial palsy, Oligosacchariduria, Abnormal autonomic nervous system physiology ORPHA:2483
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Tricusp... ORPHA:505248
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency, Orthostatic hypotension, Abnormal autonomic nervous system... OMIM:146500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Cirrhotic Cardiomyopathy