Gene Summary

Name:
sorbin and SH3 domain containing 2
Synonyms:
9430041O17Rik,  2010203O03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart rate Sorbs2tm1.1(KOMP)Mbp HOM   Early adult 2.18×10-05
increased circulating alkaline phosphatase level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.64×10-06
abnormal retina morphology Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.29×10-06
shortened PQ interval Sorbs2tm1.1(KOMP)Mbp HOM Early adult 2.24×10-05
shortened PR interval Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.57×10-06
shortened ST segment Sorbs2tm1.1(KOMP)Mbp HOM   Early adult 5.53×10-05
decreased circulating glucose level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 3.24×10-05
increased circulating sodium level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 3.43×10-06
increased heart weight Sorbs2tm1.1(KOMP)Mbp HOM Early adult 3.38×10-20

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Sleep Wake

Wake state (bmp file)

10 Images

Eye Morphology

Images Ophthalmoscopy

28 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Sorbs2 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 Sorbs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Neonatal hypoglycemia... OMIM:261740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased C-peptide level, Palpitations, Tachycardia... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased C-peptide level, Palpita... ORPHA:276580
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Increased circu... OMIM:232300
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased C-peptide level, Palpita... ORPHA:276575
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Cardiomyopathy, Dilated, 2F
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... OMIM:619747
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:615184
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... ORPHA:137675
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:255100
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:606685
Trimethylaminuria
Hypertension, Tachycardia, Splenomegaly OMIM:602079
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy, Pigmentary retinopathy OMIM:609016
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... OMIM:212138
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Nathalie Syndrome
Abnormal EKG OMIM:255990
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Pu... ORPHA:94093
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Sudd... OMIM:601494
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Hypoketotic hy... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... OMIM:300539
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Optic atrophy, Retinal vascular tortuosity, Ventricular preex... ORPHA:104
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Coproporphyria, Hereditary
Hypertension, Tachycardia, Hepatomegaly, Splenomegaly OMIM:121300
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Variegate Porphyria
Tachycardia OMIM:176200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia OMIM:188580
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Patent foramen ... ORPHA:542306
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171420
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect, Hypernatremia OMIM:615508
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypotension, Hypoglycemic seizures, Hyponatremia ORPHA:199296
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Elevated circulating creatine kinase concentration, Palp... OMIM:310300
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Third h... ORPHA:57777
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Retinal dystrophy, Ventricular septal defect... ORPHA:49827
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... ORPHA:365
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Optic atrophy, Hypoglycemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Patent foramen ovale,... OMIM:601005
Nephrogenic Diabetes Insipidus
Hypovolemia, Hypernatremia ORPHA:223
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia OMIM:613239
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556037
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... ORPHA:3008
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... ORPHA:682
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Gitelman Syndrome
Type I diabetes mellitus, Prolonged QT interval, Abnormal T-wave, Palpitations, Syncope, Type II ... ORPHA:358
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Necrotizing Enterocolitis
Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia, Abnor... ORPHA:391673
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Elevated circulating ... OMIM:602668
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:614736
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, Hypoglycemia, Decreased plas... OMIM:619048
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556030
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Vitreous floaters, Cardiomyopathy, Cardiomegaly ORPHA:85447
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia ORPHA:79273
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level ORPHA:264675
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Tachycardia,... ORPHA:368
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Abnormal bl... ORPHA:173
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Hyperammonemia, Elevated ci... OMIM:616878
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperkalemia, Hyponatremia OMIM:264350
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Tachycardia, Pigmentary retinopathy, Optic disc pallor, Abnormal heart morp... ORPHA:79264
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Increased QRS v... OMIM:619040
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Hypoglycemia, Hyperuricemia, Fasting hypoglycem... ORPHA:348
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Hepatomegaly, Myofi... OMIM:115197
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171300
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated circulati... ORPHA:466650
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... ORPHA:3093
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Hypertension, Tachycardia, Atrial septal defect OMIM:613870
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Tachycardia, Hepatomegaly OMIM:229700
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... ORPHA:542323
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Ketotic hypoglycemia, Decrea... ORPHA:79159
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia, Pulmonary arterial hypertension, Diabetes mellitus OMIM:613845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... OMIM:600996
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoglycemia, Congestive heart failure ORPHA:2022
Tetanus
Hypertension, Elevated circulating creatine kinase concentration, Tachycardia, Bradycardia ORPHA:3299
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Elevated circulating creatine kinase concentration, Tachycard... OMIM:614921
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin... OMIM:212140
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hyponatremi... ORPHA:427
Double Outlet Right Ventricle
Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic stenosis, Tachycard... ORPHA:3426
Infant Botulism
Hypotension, Cardiac arrest, Hypertension, Hyponatremia ORPHA:178478
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... OMIM:255160
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Arrhythmia, Elevated levels of phytanic acid, Cardiomyo... OMIM:266500
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, V... OMIM:232400
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Splenomegaly, Ar... OMIM:235200
Legionnaires Disease
Splenomegaly, Arrhythmia, Endocarditis, Hypotension, Myocarditis, Hyponatremia, Pericarditis ORPHA:549
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Hsd10 Mitochondrial Disease
Retinal degeneration, Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrop... OMIM:300438
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypoglycemia, Transient hyperlipidemia, Hypertrop... ORPHA:156
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Whipple Disease
Hepatomegaly, Splenomegaly, Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Insuli... ORPHA:3452
Relapsing Fever
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... ORPHA:91547
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia ORPHA:83601
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... OMIM:310200
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, Hypocalcemic tetany, Hy... ORPHA:36913
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypotension, Hypoglycemic seizures, Hyponatremia, Hypertrophic cardiomyopat... ORPHA:361
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Decreased circulating renin ... ORPHA:231625
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia OMIM:614654
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Reduced left v... ORPHA:268
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90033
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, ... OMIM:618183
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hypoglycemi... ORPHA:95409
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Optic atrophy, Hyponatremia, Hypertension ORPHA:1764
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Optic atrophy, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolon... OMIM:610198
Porphyria Variegata
Abnormal circulating porphyrin concentration, Tachycardia, Hypertension, Hyponatremia ORPHA:79473
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia, Hyperalaninemi... OMIM:619386
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic sy... ORPHA:230
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:480864
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Wolcott-Rallison Syndrome
Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... ORPHA:1667
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect, Abnormal heart morphology ORPHA:485405
Friedreich Ataxia
Optic atrophy, Abnormal EKG, Diabetes mellitus, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:229300
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Ethylene Glycol Poisoning
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Hypoketotic hypoglycemia, Retinopathy, Chorior... ORPHA:5
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... OMIM:617713
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperkalemia ORPHA:90791
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Palpitations, Increased circulating renin level, Hypotension, Ventri... OMIM:263800
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hyperammonemia, Sudden cardiac death, Elevated circulating creatine kinase concentr... OMIM:201475
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hyper... ORPHA:199299
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Hepatomegaly, Increased... ORPHA:85443
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... ORPHA:1677
Rh Deficiency Syndrome
Hepatosplenomegaly, Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam... OMIM:618120
Hepatocellular Carcinoma
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hepatomegaly, Type II diabetes mellitus, H... ORPHA:88673
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, Eleva... ORPHA:2394
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Splenomegaly, Hype... OMIM:619381
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Arrhythmia, Dec... ORPHA:42
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Abnormality of retinal pigmentation, Atrial septal defect, Tricuspid r... ORPHA:505248
Tularemia
Tachycardia ORPHA:3392
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Myocarditis, Hypot... ORPHA:36234
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid... OMIM:615160
Mirage Syndrome
Hypoglycemia, Intracranial hemorrhage, Hyperkalemia, Hyponatremia OMIM:617053
Alg8-Cdg
Optic atrophy, Retinopathy, Hyponatremia ORPHA:79325
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... OMIM:603553
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Hypoglycemia, Hyponatremia, Bradycardia ORPHA:91355
Congenital Sialidosis Type 2
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white lesions of the reti... ORPHA:93400
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypert... ORPHA:251274
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Pituitary Apoplexy
Hypoglycemia, Hypotension, Hypertension, Hyponatremia ORPHA:95613
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Glycosuria, Hypocalcemic tetany, Elevat... ORPHA:411634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Hyponatremia, Recurrent hypoglycemia ORPHA:293978
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Tachycardia, H... ORPHA:90051
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Holoprosencephaly
Abnormal pulmonary valve morphology, Retinopathy, Arrhythmia, Tetralogy of Fallot, Ventricular se... ORPHA:2162
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... ORPHA:615
Shigellosis
Hypovolemic shock, Myocarditis, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Arrhythmia, Abnormality... ORPHA:465508
Addison Disease
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hypoglycemia, Type I dia... ORPHA:85138
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circulating creatin... OMIM:223900
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98855
Alg12-Cdg
Muscular ventricular septal defect, Retinal detachment, Hypocholesterolemia, Biventricular hypert... ORPHA:79324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia OMIM:614653
Hartsfield Syndrome
Hypernatremia OMIM:615465
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Acute Intermittent Porphyria
Hypertension, Tachycardia, Hyponatremia ORPHA:79276
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, Ve... OMIM:618775
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98853
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Myocarditis, Bundle branch... ORPHA:99827
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:168558
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy, Hyperammonemia OMIM:616483
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... ORPHA:289548
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98863
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, Shock, Elev... ORPHA:340
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... OMIM:231100
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Hypoproteinemi... ORPHA:167
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... ORPHA:90038
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Glucocorticoid Resistance, Generalized
Hypoglycemia, Hypertension OMIM:615962
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyperkalemia, Hyponatremia ORPHA:90790
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Abnormal retinal morphology, ... ORPHA:40366
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Hepatomegaly, Splenomega... OMIM:219800
Graft Versus Host Disease
Hepatosplenomegaly, Tachycardia, Hyperbilirubinemia ORPHA:39812
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Ele... ORPHA:70591
Orthostatic Hypotension 2
Hypoglycemia, Orthostatic hypotension OMIM:618182
Tay-Sachs Disease