Gene Summary

Name:
Rho-associated coiled-coil containing protein kinase 1
Synonyms:
Rock-I,  1110055K06Rik

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
edema Rock1tm1b(NCOM)Mfgc HOM E15.5 0.00
preweaning lethality, incomplete penetrance Rock1tm1b(NCOM)Mfgc HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Histopathology

Images

2 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Human diseases caused by Rock1 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 Rock1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke... OMIM:300918
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Ectropion, Palmoplantar keratoderma, Scarring alopecia of scalp, ... OMIM:308800
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Blepharitis, A... ORPHA:2045
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis, Hyperkeratosis ORPHA:254478
Lymphatic Malformation 2
Lymphedema OMIM:611944
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Keratitis, ... OMIM:612843
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Isolated Trigonocephaly
Omphalocele, Synophrys ORPHA:3366
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Blepharitis, Plantar hyperkerat... OMIM:604173
Fetal Valproate Spectrum Disorder
Omphalocele, Epicanthus ORPHA:1906
Angioedema, Hereditary, 5
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Omphalocele, Autosomal
Omphalocele, Inguinal hernia OMIM:164750
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, B... ORPHA:163934
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Omphalocele
Omphalocele ORPHA:660
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Blepharitis, Hyperkeratosis OMIM:602400
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema OMIM:619367
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Blepharitis OMIM:618535
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Variegate Porphyria
Tachycardia OMIM:176200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Glaucoma 3, Primary Congenital, E
Ocular hypertension OMIM:617272
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Omphalocele, X-Linked
Omphalocele OMIM:310980
Miller-Dieker Syndrome
Omphalocele, Epicanthus ORPHA:531
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Glaucoma 1, Open Angle, F
Ocular hypertension OMIM:603383
Trigonocephaly 1
Omphalocele, Synophrys OMIM:190440
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis OMIM:616834
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Clouston Syndrome
Sparse eyelashes, Palmoplantar hyperkeratosis, Sparse and thin eyebrow, Blepharitis, Conjunctivitis OMIM:129500
Ifap Syndrome 2
Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Keratitis OMIM:619016
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... OMIM:614022
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule OMIM:614328
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Chilblain Lupus 2
Edema OMIM:614415
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Distal Trisomy 15Q
Omphalocele, Ptosis, Downslanted palpebral fissures, Camptodactyly of finger, Blepharophimosis ORPHA:1707
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Umbilical hernia, Ptosis, Inguinal hernia ORPHA:1373
Manitoba Oculotrichoanal Syndrome
Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction OMIM:248450
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... OMIM:604169
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Ankyloblepharon, Palmoplantar keratoderma, Absent eyelashes, Lacrimal duct atre... OMIM:106260
Leukonychia Totalis
Blepharitis, Abnormal eyelash morphology ORPHA:2387
Teebi Hypertelorism Syndrome 1
Omphalocele, Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fi... OMIM:145420
Microphthalmia, Isolated 6
Ocular hypertension OMIM:613517
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin ORPHA:542592
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Lymphatic Malformation 3
Lymphedema OMIM:613480
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Chronic otitis media, Long eyelashes, Epicanthus, Blepharitis, Congenital ... ORPHA:261279
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Kid Syndrome
Sparse eyelashes, Palmoplantar keratoderma, Acne inversa, Conjunctivitis, Folliculitis, Recurrent... ORPHA:477
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
White Sponge Nevus 2
Edema OMIM:615785
Donnai-Barrow Syndrome
Omphalocele, Downslanted palpebral fissures, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Macrophthalmia, Colobomatous, With Microcornea
Ocular hypertension OMIM:602499
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Juvenile Xanthogranuloma
Uveitis, Blepharitis, Iritis ORPHA:158000
Acrodermatitis Enteropathica
Pustule, Cheilitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Blepharitis, Conjunc... ORPHA:37
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Long eyelashes, Camptodactyly OMIM:618529
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Telecanthus, Upslanted palpebral fissure, Epicanthus OMIM:601927
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Epicanthus, Telecanthus, Flexion contracture OMIM:263210
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Ptosis, Telecanthus, Epicanthus, Knee flexion contracture, Short pa... OMIM:277720
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Microcoria, Congenital
Ocular hypertension OMIM:156600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Eczema, Thin eyebrow, Episcleritis, Cheilitis, Abnormal eyelash morphology, Abnormal... ORPHA:2273
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Acalvaria
Omphalocele ORPHA:945
Lymphatic Malformation 10
Lymphedema OMIM:619369
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension OMIM:610023
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Chromosome 9P Deletion Syndrome
Omphalocele, Narrow palpebral fissure, Highly arched eyebrow, Upslanted palpebral fissure, Epican... OMIM:158170
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Narrow palpebral fissure, Epicanthus, Inguinal hernia, Wrist flexion contracture, Di... ORPHA:254528
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infec... ORPHA:294023
Kagami-Ogata Syndrome
Omphalocele, Short palpebral fissure, Diastasis recti, Flexion contracture, Blepharophimosis, Ing... OMIM:608149
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Syncope, Tachycardia ORPHA:324575
Glaucoma 3, Primary Congenital, A
Ocular hypertension OMIM:231300
Irvan Syndrome
Ocular hypertension ORPHA:209943
Eec Syndrome
Abnormal dental enamel morphology, Keratitis, Thick eyebrow, Inflammatory abnormality of the eye,... ORPHA:1896
Lacrimal Duct Defect
Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis OMIM:149700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Kennerknecht Syndrome
Omphalocele, Long eyelashes OMIM:600908
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
D-Lactic Aciduria With Gout
Downslanted palpebral fissures, Inguinal hernia OMIM:245450
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Upslanted palpebral fissure ORPHA:3035
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Xeroderma Pigmentosum
Ectropion, Ankyloblepharon, Conjunctival telangiectasia, Keratitis, Pterygium, Hyperkeratosis, Bl... ORPHA:910
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis OMIM:612692
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis ORPHA:411777
Moebius Syndrome
Blepharitis, Epicanthus, Arthrogryposis multiplex congenita, Ptosis ORPHA:570
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Developmental And Epileptic Encephalopathy 89
Omphalocele, Highly arched eyebrow, Upslanted palpebral fissure, Neonatal death, Sparse eyebrow, ... OMIM:619124
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Hydrocephalus With Associated Malformations
Omphalocele OMIM:236640
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Donnai-Barrow Syndrome
Omphalocele, Downslanted palpebral fissures, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Weill-Marchesani Syndrome 4
Ocular hypertension OMIM:613195
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia OMIM:613426
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Omphalocele, Diastasis recti, Sparse eyebrow, Highly arched eyebrow OMIM:618419
Neovascular Glaucoma
Ocular hypertension ORPHA:94058
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Glaucoma, Primary Closed-Angle
Ocular hypertension OMIM:618880
Constricting Bands, Congenital
Bladder exstrophy, Omphalocele, Gastroschisis, Eyelid coloboma OMIM:217100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic pulmonary obstruction, Neutropenia, Leukopenia, Partial absence of spe... OMIM:618986
Limb-Mammary Syndrome
Psoriasiform dermatitis, Absent lacrimal punctum, Sparse eyebrow, Lacrimal duct atresia, Chronic ... ORPHA:69085
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Spontaneous, recurre... OMIM:214500
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Scarring, Ectropion, Scarring alopecia of scalp, Recurrent bacterial ski... ORPHA:95159
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Sparse lateral eyebrow, Telecanthus, Downslanted palpebral fissures, Abnormal eyelas... ORPHA:3164
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Lacrimal duct stenosis, Umbilical hernia, Inguinal hernia OMIM:601351
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyelashes, Dacryocystitis, Telecanthus, Hyperkeratosis, Sparse and thin eyebrow, Blepharit... OMIM:129900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia, Interface hepatitis, Psoriasiform dermatitis OMIM:243150
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... ORPHA:860
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Lymphedema OMIM:618154
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Popliteal pterygium ORPHA:3329
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... ORPHA:906
Bartsocas-Papas Syndrome 1
Omphalocele, Inferiorly positioned umbilicus, Popliteal pterygium, Ectropion, Upslanted palpebral... OMIM:263650
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Recurrent ... OMIM:618935
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
3Mc Syndrome 1
Omphalocele, Highly arched eyebrow, Ptosis, Abnormality of the abdominal wall, Conjunctival telan... OMIM:257920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis OMIM:601457
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Flexion contracture of toe, Upslanted palpebral fissure, Epicanth... ORPHA:280633
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Recurrent aspiration pneumonia, Upslanted palpebral fissure, Abnormality of the abdo... OMIM:247200
Bladder Exstrophy
Bladder exstrophy, Omphalocele, Umbilical hernia, Inguinal hernia ORPHA:93930
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Gas... ORPHA:98850
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Umbilical hernia ORPHA:254534
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyelashes, Dacryocystitis, Hyperkeratosis, Sparse and thin eyebrow, Blepharitis, Blepharop... OMIM:604292
Carpenter Syndrome 1
Omphalocele, Telecanthus, Joint contracture of the hand, Epicanthus, Camptodactyly, Umbilical hernia OMIM:201000
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Ectropion, Recurrent otitis media, Downslanted palpebral fissures, Long palpebral... OMIM:602562
Weill-Marchesani Syndrome 3
Ocular hypertension OMIM:614819
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Fibrochondrogenesis
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger ORPHA:2021
Dyskeratosis Congenita
Palmoplantar keratoderma, Abnormal eyebrow morphology, Periodontitis, Blepharitis, Abnormal eyela... ORPHA:1775
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Abnormality of the orbital region, Arthritis, Pterygium ORPHA:371428
C Syndrome
Omphalocele, Epicanthus, Upslanted palpebral fissure OMIM:211750
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Birdshot Chorioretinopathy
Ocular hypertension ORPHA:179
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Conjunctivitis OMIM:603165
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Caudal Duplication
Omphalocele ORPHA:1756
Mastocytosis
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Cough, S... ORPHA:98292
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... OMIM:601495
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Otopalatodigital Syndrome, Type I
Omphalocele, Downslanted palpebral fissures OMIM:311300
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... OMIM:540000
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Scarring, Ectropion, Scarring alopecia of scalp, Recurrent bacterial ski... ORPHA:79277
Isolated Congenital Alacrima
Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Acrocephalopolydactylous Dysplasia
Omphalocele, Epicanthus, Upslanted palpebral fissure OMIM:200995
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Mosaic Trisomy 1
Omphalocele, Congenital diaphragmatic hernia, Congenital bilateral ptosis, Downslanted palpebral ... ORPHA:1692
Trisomy 1Q
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:261344
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis OMIM:613493
Aniridia-Absent Patella Syndrome
Inguinal hernia, Ptosis ORPHA:1069
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiorespiratory arrest ORPHA:280785
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Tularemia
Tachycardia ORPHA:3392
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Epicanthus, Arthritis, Osteomyelitis,... ORPHA:33110
Kagami-Ogata Syndrome
Omphalocele, Diastasis recti, Blepharophimosis, Inguinal hernia ORPHA:254519
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Anterior Segment Dysgenesis 7
Ocular hypertension OMIM:269400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele OMIM:617895
Marshall-Smith Syndrome
Omphalocele, Recurrent aspiration pneumonia, Synophrys, Thick eyebrow, Umbilical hernia, Shallow ... OMIM:602535
Hyperostosis Cranialis Interna
Ocular hypertension OMIM:144755
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Upslanted palpebral fissure, Telecanthus, Epicanthus, Long eyelashes, Camptodactyly OMIM:616894
Dyskeratosis Congenita, X-Linked
Conjunctivitis, Sparse eyelashes, Blepharitis, Pterygium OMIM:305000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia ORPHA:335
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Nasolacrimal Duct Cyst
Narrow palpebral fissure, Dacryocystocele, Dacryocystitis, Nasolacrimal duct obstruction, Chronic... ORPHA:141083
Pseudotrisomy 13 Syndrome
Omphalocele, Upslanted palpebral fissure OMIM:264480
Relapsing Fever
Epistaxis, Tachycardia, Hypotension ORPHA:91547
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Xeroderma Pigmentosum, Variant Type
Keratitis, Entropion, Ectropion, Conjunctivitis OMIM:278750
Trisomy 18
Omphalocele, Congenital diaphragmatic hernia, Epicanthus, Hernia, Camptodactyly of finger, Blepha... ORPHA:3380
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Fibrochondrogenesis 1
Stillbirth, Omphalocele, Joint contracture of the hand, Camptodactyly OMIM:228520
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Absent eyelashes, Camptodactyly of finger, Cryptophthalmos, Umbilica... ORPHA:920
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia OMIM:613327
Cornelia De Lange Syndrome
Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Curly eyelashes, Long eyelashes, ... ORPHA:199
X-Linked Lymphoproliferative Disease
Myocarditis, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dys... ORPHA:2442
Holoprosencephaly
Omphalocele, Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Upslanted palpebral ... ORPHA:2162
Otopalatodigital Syndrome, Type Ii
Stillbirth, Omphalocele, Downslanted palpebral fissures OMIM:304120
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Arthritis, Skin rash, Conjunctivitis OMIM:120100
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Anterior Segment Dysgenesis 1
Ocular hypertension OMIM:107250
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Opitz Gbbb Syndrome
Omphalocele, Recurrent aspiration pneumonia, Umbilical hernia, Ptosis, Congenital diaphragmatic h... ORPHA:2745
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... ORPHA:423
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Joint contracture of the hand, Ingu... OMIM:218649
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis OMIM:610455
Short-Rib Thoracic Dysplasia 12
Omphalocele, Neonatal death, Epicanthus, Inguinal hernia OMIM:269860
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Umbili... ORPHA:1519
Carney Triad
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia ORPHA:139411
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Epicanthus... OMIM:618820
Triploidy
Omphalocele ORPHA:3376
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:115310
Focal Dermal Hypoplasia
Omphalocele, Congenital diaphragmatic hernia, Abnormal dental enamel morphology, Hernia, Inguinal... ORPHA:2092
Immunodeficiency, Common Variable, 1
Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conj... OMIM:607594
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Entropion, Ectropion, Conjunctivitis OMIM:278740
Exfoliation Syndrome
Asymmetry of intraocular pressure OMIM:177650
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension ORPHA:159
Immunodeficiency 46
Chronic oral candidiasis, Conjunctivitis OMIM:616740
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Muckle-Wells Syndrome
Hernia of the abdominal wall, Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finge... ORPHA:575
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Low intraocular pressure OMIM:601552
Otopalatodigital Syndrome Type 2
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger ORPHA:90652
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Pulmonary arterial hypertension, Aborted sudden cardiac death, Tachycardi... OMIM:614921
Codas Syndrome
Omphalocele, Enamel hypoplasia, Ptosis OMIM:600373
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... OMIM:300855
Shprintzen Omphalocele Syndrome
Omphalocele, Epicanthus OMIM:182210
Holoprosencephaly 7
Omphalocele, Upslanted palpebral fissure OMIM:610828
Muckle-Wells Syndrome
Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis OMIM:191900
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Psoriasiform dermatitis, Hepatitis, Absent eyebrow, Hashimoto thyroiditis ORPHA:436252
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Greenberg Dysplasia
Omphalocele, Neonatal death, Abnormality of the orbital region, Stillbirth OMIM:215140
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... OMIM:233700
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Flexion contracture of toe, Epicanthus, Joint contracture of the hand, Camptodactyly OMIM:300373
Melnick-Needles Syndrome
Omphalocele ORPHA:2484
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Lethal Congenital Contracture Syndrome 10
Omphalocele OMIM:617022
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Ventricular arrhyth... ORPHA:97214
Simpson-Golabi-Behmel Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic herni... ORPHA:373
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Entropion, Ectropion, Conjunctivitis OMIM:278720
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak ORPHA:36234
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... OMIM:233690
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Thoracoabdominal Syndrome
Ventral hernia, Omphalocele, Congenital diaphragmatic hernia OMIM:313850
Uveal Melanoma
Ocular hypertension ORPHA:39044
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Alg9-Cdg
Omphalocele, Lipodystrophy, Telecanthus, Shallow orbits ORPHA:79328
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Fryns Syndrome
Omphalocele, Narrow palpebral fissure, Aplasia of the left hemidiaphragm, Joint contracture of th... OMIM:229850
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypertension, Tachycardia OMIM:223900
Hemorrhagic Fever-Renal Syndrome