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
shortened PR interval Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 1.77×10-06
shortened ST segment Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 9.27×10-05
abnormal sleep behavior Cldn19tm1.1(KOMP)Vlcg HOM Early adult 3.90×10-06
increased circulating sodium level Cldn19tm1.1(KOMP)Vlcg HOM Early adult 3.86×10-06
increased heart weight Cldn19tm1.1(KOMP)Vlcg HOM Early adult 2.81×10-06
shortened PQ interval Cldn19tm1.1(KOMP)Vlcg HOM   Early adult 3.17×10-05

Download data as:  TSV  XLS

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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
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
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)
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
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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 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
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
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

Sleep Wake

Wake state (bmp file)

17 Images

Adult LacZ

LacZ Images Section

6 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

3 Images

Eye Morphology

Images Ophthalmoscopy

2 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
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
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... OMIM:261740
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Increased circu... OMIM:232300
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Nathalie Syndrome
Abnormal EKG OMIM:255990
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... ORPHA:308552
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... ORPHA:137675
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Palpitations, Shortened PR inte... ORPHA:79102
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased cir... OMIM:601494
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... ORPHA:94093
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect, Hypernatremia OMIM:615508
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... OMIM:300539
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level OMIM:203400
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... ORPHA:365
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Nephrogenic Diabetes Insipidus
Hypovolemia, Hypernatremia ORPHA:223
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Elevated circulating creatine kinase conce... OMIM:310300
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556037
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... ORPHA:3093
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level OMIM:177735
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:556030
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... ORPHA:682
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension OMIM:264350
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Atrial Standstill 2
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... ORPHA:3008
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Hepatomegaly, Myofi... OMIM:115197
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Third h... ORPHA:57777
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... ORPHA:358
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia ORPHA:79273
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated circulati... ORPHA:466650
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT ... OMIM:601005
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Increased QRS v... OMIM:619040
Necrotizing Enterocolitis
Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal heart morphology ORPHA:391673
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Legionnaires Disease
Splenomegaly, Arrhythmia, Endocarditis, Hypotension, Myocarditis, Hyponatremia, Pericarditis ORPHA:549
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Hyponatremi... ORPHA:427
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... OMIM:300257
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia ORPHA:83601
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... OMIM:255160
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Pulmonary arterial hypertension, Hyperuricemia OMIM:613845
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... ORPHA:173
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Whipple Disease
Hepatomegaly, Splenomegaly, Hypotension, Myocarditis, Myocardial infarction, Hyponatremia, Gastro... ORPHA:3452
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, ... OMIM:618183
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... OMIM:267700
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... ORPHA:1677
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Palpitations, Intracranial hemor... ORPHA:231625
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... OMIM:310200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Reduced left v... ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... ORPHA:615
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypert... ORPHA:251274
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Arrhythmia, Tra... OMIM:255120
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hypertension, Tachycardia, Hyponatremia ORPHA:79473
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Splenomegaly, Hype... OMIM:619381
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Hepatomegaly, Increased... ORPHA:85443
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Arrhythmia, Increased s... OMIM:235200
Wolcott-Rallison Syndrome
Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... ORPHA:1667
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Familial Glucocorticoid Deficiency
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension ORPHA:361
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... OMIM:603553
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Myocardial ... ORPHA:95409
Hartsfield Syndrome
Hypernatremia OMIM:615465
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Narcolepsy 3
Narcolepsy OMIM:609039
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Increased circ... ORPHA:26793
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension, Hyponatremia ORPHA:1764
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Refsum Disease, Classic
Arrhythmia, Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... ORPHA:411634
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level ORPHA:90791
Alg8-Cdg
Hyponatremia ORPHA:79325
Narcolepsy 7
Narcolepsy OMIM:614250
Mirage Syndrome
Intracranial hemorrhage, Hyperkalemia, Hyponatremia OMIM:617053
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Dextrocardia
Situs inversus totalis, Dextrocardia, T-wave inversion, Abnormal EKG, Abnormal heart morphology ORPHA:1666
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... ORPHA:90038
Narcolepsy 1
Narcolepsy OMIM:161400
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hepatomegaly, Hyperbilirubinemia, Hypokalemia, Hypotension, Hypoalbuminemia... ORPHA:88673
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Hyponatremia, Bradycardia ORPHA:91355
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Acute Intermittent Porphyria
Hypertension, Tachycardia, Hyponatremia ORPHA:79276
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... OMIM:108800
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Shigellosis
Hyponatremia, Abnormal blood ion concentration, Myocarditis, Hypovolemic shock ORPHA:810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hypotension ORPHA:293978
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hepatosplenomegaly, Hypotension, Hypertriglyceridemia, Hyponatremia, Hypercholestero... ORPHA:275761
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Ele... ORPHA:70591
Adenohypophysitis
Orthostatic hypotension, Hyponatremia ORPHA:95512
Alg12-Cdg
Muscular ventricular septal defect, Hypocholesterolemia, Biventricular hypertrophy, Hypoalbuminem... ORPHA:79324
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... ORPHA:167
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Abnormal EKG, Telangiectasia, Abnormal heart morphology ORPHA:93400
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... ORPHA:230
Panhypophysitis
Orthostatic hypotension, Hyponatremia ORPHA:95513
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Holoprosencephaly
Abnormal pulmonary valve morphology, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:2162
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension, Increased circulating renin level, Abnormal circulating cholesterol con... ORPHA:168558
Addison Disease
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension, Increased circulating renin level, Abnormal circulating cholesterol con... ORPHA:289548
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... ORPHA:480864
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Myocarditis, Hyponatremia, Hypertensive crisis, Hypertension, Hyperkalemia ORPHA:544482
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... OMIM:619991
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomega... OMIM:208000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... OMIM:219800
Autosomal Recessive Polycystic Kidney Disease
Splenomegaly, Hepatosplenomegaly, Enlarged kidney, Portal hypertension, Hyponatremia, Gastrointes... ORPHA:731
Japanese Encephalitis
Hyponatremia ORPHA:79139
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... OMIM:229310
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
African Trypanosomiasis
Narcolepsy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Myocarditis, Third degree... ORPHA:3385
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:601992
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Hyperkalemia, Hypotension, Shock, Hyponatremia, Hypochloremia ORPHA:90794
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Pro... OMIM:170390
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Hyperlipidemia, Hyponatremia ORPHA:293987
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia ORPHA:534
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Prolonged QRS complex, Dilated cardiomyopathy, Cardiac conduction a... ORPHA:273
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:302900
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Niemann-Pick Disease Type C
Narcolepsy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly ORPHA:646
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave OMIM:241080
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave ORPHA:3464
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
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

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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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