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 circulating sodium level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 3.43×10-06
abnormal retina morphology Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.62×10-06
decreased circulating glucose level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 8.91×10-06
shortened PR interval Sorbs2tm1.1(KOMP)Mbp HOM   Early adult 1.15×10-06
increased circulating alkaline phosphatase level Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.58×10-06
shortened ST segment Sorbs2tm1.1(KOMP)Mbp HOM   Early adult 5.41×10-05
shortened PQ interval Sorbs2tm1.1(KOMP)Mbp HOM Early adult 8.52×10-05
decreased exploration in new environment Sorbs2tm1.1(KOMP)Mbp HOM Early adult 2.98×10-05
increased heart weight Sorbs2tm1.1(KOMP)Mbp HOM Early adult 1.00×10-22
increased heart rate Sorbs2tm1.1(KOMP)Mbp HOM   Early adult 2.17×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

28 Images

X-ray

XRay Images Forepaw

9 Images

Adult LacZ

LacZ Images Section

8 Images

Sleep Wake

Wake state (bmp file)

10 Images

Eye Morphology

Images Slit Lamp

1 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
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene... OMIM:261740
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Syn... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly, ... OMIM:232300
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hypercholesterolemia, Ischemic stroke, ST segment depressio... ORPHA:90065
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... ORPHA:137675
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... ORPHA:75565
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Hyperi... ORPHA:276608
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Ca... ORPHA:308552
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Thyrotoxic Periodic Paralysis
Palpitations, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphat... ORPHA:79102
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Hepatomegaly, Cardiome... OMIM:600649
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hyponatremia, Decreased circulating renin level, Irritability, ... OMIM:300539
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, Increased serum pyruvate, ST segment elevation ORPHA:94125
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circu... ORPHA:94093
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Anxiety, Splenomegaly OMIM:121300
Nathalie Syndrome
Abnormal EKG OMIM:255990
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Pigmentary retinopathy, Hypoglycemia OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Abnormal heart morphology, Pigmentary retinopathy, Retinal degeneration, Emotional labi... ORPHA:79264
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Patent foramen ovale, Atrial s... ORPHA:26793
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypoglycemia, Hyperalaninemia, Cognitive impairment, Optic atrophy, Hypertrophic card... OMIM:614702
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Neonat... ORPHA:263455
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Myotonic Dystrophy 2
Palpitations, Tachycardia, Insulin insensitivity, Elevated circulating creatine kinase concentrat... OMIM:602668
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia OMIM:613239
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Retinal degeneration, Prolonged PR in... ORPHA:542306
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia OMIM:188580
Propionic Acidemia
Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy ORPHA:35
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, H... ORPHA:365
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis, Ventricular septal defect OMIM:615508
Pyruvate Carboxylase Deficiency
Hyperammonemia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in bl... ORPHA:3008
Scorpion Envenomation
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... ORPHA:466677
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hypotension, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Palpitations, Reduced ejection fraction, Arrh... ORPHA:217607
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Paten... OMIM:601005
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:203400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycem... ORPHA:159
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Irritability OMIM:304800
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Hepatomegaly, Hyperalanin... OMIM:619048
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Pericardial effusion, Abnormal T-wave, Type II diabetes mellitus, ... ORPHA:358
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Retinal dystrophy... ORPHA:49827
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Orthostatic hypotension, Hyponatremia, Increased circulating renin level OMIM:610600
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hypoglycemia, Sudden cardiac death, Tachycardia, Elevated circulating cre... OMIM:614921
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:612999
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Hyperkalemic Periodic Paralysis
Arrhythmia, Hyponatremia, Hypokalemia, Congestive heart failure, Elevated circulating creatine ki... ORPHA:682
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... ORPHA:449285
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Danon Disease
Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-Whi... OMIM:300257
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Hyponatremia, Shock, Hyperglycemia, Bradycardia, Abnormal... ORPHA:391673
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Hypovolemic shock, Hyperkalemia ORPHA:171876
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoglycemia, Congestive heart failure, C... ORPHA:2022
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:177735
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Irritability, Hypoglycemia OMIM:229700
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Cholera
Hypocalcemia, Hypotension, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokale... ORPHA:173
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating ... OMIM:310200
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hepatomegaly, Hypertriglyceridemia, Ta... OMIM:613327
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Hepatomegaly, Neonatal ... ORPHA:348
Hereditary Coproporphyria
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Anxiety, Syncope ORPHA:464453
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Increased QRS voltage, Left ventricular hypertrop... OMIM:619040
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Paragangliomas 3
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:605373
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration ORPHA:264675
Attrv30M Amyloidosis
Arrhythmia, Vitreous floaters, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypoglycemia, Ventricular tachycardia, Ventricular fibrillation, Elevated cir... OMIM:616878
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hypotension, Hyponatremia OMIM:264350
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine k... OMIM:255120
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Abnormal EKG ORPHA:1177
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abn... ORPHA:466650
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Anxiety ORPHA:83601
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect OMIM:613870
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Paragangliomas 1
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:168000
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... ORPHA:423
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Dou... ORPHA:3426
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Aggressive behavior, Hypoglycemia, Retinal degeneration, Op... OMIM:300438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171300
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Tetanus
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Stiff-Person Syndrome
Agoraphobia, Hypertension, Tachycardia, Anxiety, Diabetes mellitus OMIM:184850
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Endocardial fibroelastosis, Impaired gluconeogenesis,... OMIM:212140
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Hydroxykynureninuria
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Central Diabetes Insipidus
Hyponatremia, Anxiety ORPHA:178029
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Hyponatremia, Splenomegaly, Myocarditis ORPHA:549
Refsum Disease, Classic
Arrhythmia, Elevated levels of phytanic acid, Retinal degeneration, Congestive heart failure, Car... OMIM:266500
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Hepatomegaly, Cong... OMIM:235200
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Apathy, Hyponatremia, Abnormal circulating po... ORPHA:100924
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Hyponatremia, Hepatom... ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Elevated circulating crea... ORPHA:268
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Decreased circul... ORPHA:231625
Porphyria Variegata
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration, Anxiety ORPHA:79473
Mercury Poisoning
Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hepatomegaly, Myocardial infarc... ORPHA:330001
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:232400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Friedreich Ataxia
Abnormal echocardiogram, Congestive heart failure, Optic atrophy, Diabetes mellitus, Abnormal EKG... OMIM:229300
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Transient hyperlipidemia, Hypoglycemia, Sudden cardiac death, Hepatomegaly, Hypertrop... ORPHA:156
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Euphoria,... ORPHA:31826
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Hypotension, Ketotic hypoglycemia, Hyponatremia, Hyperkalemia, Hypertrophi... ORPHA:361
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morpholog... ORPHA:485405
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Relapsing Fever
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... ORPHA:91547
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Arrhythmia, Elevated circulating creatine kinase concentration, Hypoglycem... ORPHA:480864
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Ir... ORPHA:36913
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90033
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Al Amyloidosis
Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Abnormal hea... ORPHA:85443
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage ORPHA:335
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Nonketotic hypoglycemia, Sudden cardiac de... OMIM:201475
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Familial Dysautonomia
Orthostatic hypotension, Hyponatremia, Hypertension, Tachycardia, Optic atrophy ORPHA:1764
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Dilated cardiomyopathy, Hypog... OMIM:618120
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Tachycardia, Anxiety, Memory impairment, Mental deterioration ORPHA:79276
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Inc... ORPHA:95409
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Serotonin Syndrome
Hypotension, Hypertension, Tachycardia, Irritability, Anxiety, Mental deterioration ORPHA:43116
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Gitelman Syndrome
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Hypokalemi... OMIM:263800
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hyperamylasemia, Hypoglycemia, Hyperalaninemia, Elevated circulating creatine ki... OMIM:619386
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Elevated circulating creatine kinase con... OMIM:616812
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Glucocorticoid Resistance, Generalized
Hypertension, Anxiety, Hypoglycemia OMIM:615962
Wolcott-Rallison Syndrome
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double outlet right ventric... ORPHA:1667
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbumin... OMIM:618183
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... OMIM:223900
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Hypercalcemia, T... ORPHA:199299
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Atrial septal defect, Patent foramen ovale, Enlarged kidney,... ORPHA:505248
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chiari syndrome, Hypogly... ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Eleva... ORPHA:439232
Congenital Sialidosis Type 2
Abnormal heart morphology, Yellow/white lesions of the retina, Hepatomegaly, Optic atrophy, Hypop... ORPHA:93400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Hypoketotic hypoglycemia,... ORPHA:5
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypokalemia, Prolonged QT interval, Left ventri... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 37
Retinal degeneration, Hypoglycemia, Hyperalaninemia, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618329
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... ORPHA:36234
Tularemia
Tachycardia ORPHA:3392
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hyponatremia, Hypoglycemia, Bradycardia ORPHA:91355
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Apathy... ORPHA:465508
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Holoprosencephaly
Chorioretinal coloboma, Arrhythmia, Ventricular septal defect, Hyponatremia, Hypoglycemia, Abnorm... ORPHA:2162
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated ... ORPHA:42
Porphyria, Acute Intermittent
Tachycardia, Anxiety, Hypertension OMIM:176000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dementia, Diabetes mellitus, Bradycardia, Cardiomyopathy OMIM:609286
Mirage Syndrome
Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Hypoglycemia OMIM:617053
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Abnormal cardiac ventricu... ORPHA:2394
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ... OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 33
Progressive neurologic deterioration, Hyperammonemia, Optic atrophy, Hypoglycemia OMIM:618253
Pituitary Apoplexy
Hypotension, Hypertension, Hyponatremia, Hypoglycemia ORPHA:95613
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Abnormality of retinal pigmentatio... ORPHA:167
Paragangliomas 4
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:115310
Addison Disease
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circul... ORPHA:85138
Sepsis In Premature Infants
Hypotension, Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Sp... ORPHA:90051
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Impaired glucose tolerance, Bradycardia, Glucose intolerance OMIM:614407
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Myocarditis ORPHA:810
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Irritability, Tachycardia ORPHA:39812
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hyperalaninemia, Cardiomegaly, Pulmonary arteri... OMIM:619051
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hyponatremia, Hypertension, Myocardial infarction,... ORPHA:90038
Hartsfield Syndrome
Hypernatremia OMIM:615465
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Elevated circulating creatinine concen... ORPHA:411634
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia OMIM:614498
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Papilledema, Elevated circulating creatine kinas... OMIM:618775
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the optic nerve, Abnormal retinal morphology, Third degree atrioventricular... ORPHA:40366
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval OMIM:615351
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypovolemia, Hypotension, Psychomotor deterioration, Hyponatremia, Pulmonar... ORPHA:275761
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Hepa... ORPHA:398124
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level,... ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoglycemia OMIM:618838
Rett Syndrome
Motor deterioration, Abnormal T-wave, Prolonged QTc interval, Dementia OMIM:312750
Cystinosis, Nephropathic
Decreased plasma carnitine, Progressive neurologic deterioration, Pigmentary retinopathy, Hypopho... OMIM:219800
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... ORPHA:70591
Ogden Syndrome
Arrhythmia, Atrial septal defect, Ventricular septal defect, Ventricular extrasystoles, Ventricul... OMIM:300855
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Dextrocardia
Situs inversus totalis, Abnormal heart morphology, T-wave inversion, Dextrocardia, Abnormal EKG ORPHA:1666
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Irritability, Anxiety, Prolonged QT interval, Hyperphosphatemi... ORPHA:94089
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Decreased plasma total carnitine, Abnormal myocardium morphology, Hypoketotic hypogly... ORPHA:228308
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... OMIM:619170
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva... OMIM:619355
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Syncope ORPHA:98849
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... OMIM:170390
Mirizzi Syndrome
Hyperbilirubinemia, Tachycardia ORPHA:521219
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Infantile Liver Failure Syndrome 2
Hyperammonemia, Cardiomyopathy, Hypoglycemia OMIM:616483
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Adenohypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95512
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hypertensive crisis, Hypertension, Myocarditis, Diabetes mellitus, Hy... ORPHA:544482
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Steinert Myotonic Dystrophy
Hypercholesterolemia, Dilated cardiomyopathy, Hyperinsulinemia, Aggressive behavior, Insulin resi... ORPHA:273
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Bradycardia OMIM:610015
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Asymmetric septal hypertrophy, Aggressive behavior, Hepatom... OMIM:252920
Panhypophysitis
Hyponatremia, Orthostatic hypotension ORPHA:95513
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... OMIM:617877
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... OMIM:229310
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... OMIM:601992
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Aggressive behavior, Supraventricular tachycardia with an accessory connect... ORPHA:404443
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypoglycemia OMIM:618839
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating glutaric acid concentration, Muscular ventricular sep... ORPHA:66634
Renal Nutcracker Syndrome
Tachycardia, Orthostatic hypotension, Syncope ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:618835
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hyponatremia, Hypertension, Splenomegaly, Cognitive... ORPHA:731
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Japanese Encephalitis
Cognitive impairment, Hyponatremia ORPHA:79139
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... OMIM:302900
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Bradycardia OMIM:617397
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Dementia, Abnormal heart morphology, Pigmentary retinopathy, Subdural hem... ORPHA:79282
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Emotional lability, Hypokalemia, Hypochloremia, ... ORPHA:89938
Congenital Tricuspid Valve Dysplasia