Gene Summary

Name:
claudin 19
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Cldn19tm1.1(KOMP)Vlcg HOM Early adult 2.81×10-06
increased circulating sodium level Cldn19tm1.1(KOMP)Vlcg HOM Early adult 3.86×10-06
shortened PR interval Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 1.81×10-06
abnormal sleep behavior Cldn19tm1.1(KOMP)Vlcg HOM Early adult 3.90×10-06
decreased circulating free fatty acids level Cldn19tm1.1(KOMP)Vlcg HOM Early adult 8.60×10-07
shortened PQ interval Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 3.21×10-05
shortened ST segment Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 9.54×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow 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)
Heart 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)
Kidney N/A heterozygote 100% (2 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 100% (2 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 50% (1 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 100% (2 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 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)
Vascular system 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
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote Ambiguous
Metanephros N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
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 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
metanephros Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

Sleep Wake

Wake state (bmp file)

17 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Adult LacZ

LacZ Images Section

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Cldn19 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.

The table below shows human diseases associated to Cldn19 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Abnormal circulating calcium concentration, Hypomagnesemia OMIM:248190
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
ORPHA:2196

The table below shows human diseases predicted to be associated to Cldn19 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, T-wave inversio... ORPHA:263297
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri... OMIM:232300
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Elevated circulating creatine k... ORPHA:308552
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Shorten... ORPHA:79102
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... ORPHA:94093
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir... ORPHA:556037
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate ORPHA:94125
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir... ORPHA:556030
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hypotension, Hyperkalemia, Hyponatremia OMIM:264350
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis OMIM:615508
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio... ORPHA:365
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Increased circulating renin level, Hyponatremia, Arrhythmia, Hyperkalemia, Glu... ORPHA:171876
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Elevated circulating creatine kinase concent... OMIM:310300
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypotension ORPHA:199296
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem... ORPHA:31824
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra... ORPHA:449285
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Gitelman Syndrome
Hypermagnesemia, Prominent U wave, Abnormal T-wave, Hypomagnesemia, Pericardial effusion, Palpita... ORPHA:358
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated... ORPHA:57777
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Partial atrioventricular canal defect, Hypernatremia OMIM:620423
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration ORPHA:79273
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Legionnaires Disease
Hypotension, Splenomegaly, Hyponatremia, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Infant Botulism
Hyponatremia, Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Familial Hypoaldosteronism
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... ORPHA:427
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension, Hypokalemia OMIM:605635
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Necrotizing Enterocolitis
Hypotension, Shock, Abnormal heart morphology, Hyponatremia, Bradycardia ORPHA:391673
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Pulmonary arterial hypertension, Increased blood ure... OMIM:613845
Cholera
Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hypo... ORPHA:173
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypokalemia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrh... ORPHA:251274
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Hepatomegaly, Myocarditis, ... ORPHA:3452
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ... OMIM:618183
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Elevated circulat... OMIM:310200
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Decreased circulating cortisol level, Hyp... ORPHA:361
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:214700
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... OMIM:603553
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea... ORPHA:247353
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Splenomegaly, Vasculitis in the skin, Elevated circulating C-reactive protein co... OMIM:619381
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co... ORPHA:268
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Secundum atrial septal defect OMIM:608688
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension ORPHA:79473
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... ORPHA:26793
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Acute Adrenal Insufficiency
Hypotension, Increased circulating renin level, Hyperuricemia, Hyponatremia, Decreased circulatin... ORPHA:95409
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hyp... ORPHA:85443
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulat... ORPHA:90791
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... ORPHA:1667
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir... OMIM:235200
Late-Onset Isolated Acth Deficiency
Hypotension, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypot... ORPHA:199299
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Hypertension ORPHA:97362
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension OMIM:617913
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Familial Dysautonomia
Hyponatremia, Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Lysosomal Acid Lipase Deficiency
Hypotension, Xanthelasma, Hepatosplenomegaly, Hyponatremia, Pulmonary arterial hypertension, Hype... ORPHA:275761
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Sheehan Syndrome
Palpitations, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Bradyc... ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov... OMIM:610505
Hartsfield Syndrome
Hypernatremia OMIM:615465
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension ORPHA:95512
Alg8-Cdg
Hyponatremia ORPHA:79325
Pituitary Apoplexy
Hyponatremia, Hypotension, Hypertension, Increased circulating cortisol level ORPHA:95613
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Mirage Syndrome
Hyponatremia, Intracranial hemorrhage, Hyperkalemia OMIM:617053
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension ORPHA:95513
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... OMIM:255120
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia ORPHA:1666
Alg12-Cdg
Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe... ORPHA:79324
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv... ORPHA:70591
Shigellosis
Myocarditis, Hypovolemic shock, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Hypertension ORPHA:79276
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:168558
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypotension ORPHA:293978
Addison Disease
Hypotension, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypot... ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:289548
Ch├ędiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hypona... ORPHA:167
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia ORPHA:90790
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Orthos... ORPHA:230
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly ORPHA:93400
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Abnormal EKG, Hyperammonemia, Elevated circulat... ORPHA:480864
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Holoprosencephaly
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Ventricular septal defect, Hyponatremia... ORPHA:2162
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension ORPHA:544482
Liver Disease, Severe Congenital
Elevated circulating alpha-fetoprotein concentration, Increased circulating ferritin concentratio... OMIM:619991
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:602522
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia, Increased circulati... ORPHA:89938
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte... OMIM:208000
Japanese Encephalitis
Hyponatremia ORPHA:79139
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Splenome... OMIM:219800
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Increased ser... ORPHA:731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Shock, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochlorem... ORPHA:90794
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Narcolepsy 3
Narcolepsy OMIM:609039
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Narcolepsy, Hyperlipidemia ORPHA:293987
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Narcolepsy 1
Narcolepsy OMIM:161400
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated circul... ORPHA:90068
Narcolepsy 7
Narcolepsy OMIM:614250
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... OMIM:201750
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Atria... ORPHA:648
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave OMIM:241080
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave ORPHA:3464
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Niemann-Pick Disease Type C
Hepatomegaly, Hepatosplenomegaly, Narcolepsy, Splenomegaly ORPHA:646
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Abnormal circulating calcium concentration, Hypomagnesemia OMIM:248190
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
ORPHA:2196

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cldn19

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cldn19.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cldn19tm1.1(KOMP)Vlcg PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cldn19tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Cldn19tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cldn19tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cldn19tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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