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Gene: Sorl1 MGI:1202296

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Gene Summary

Name:
sortilin-related receptor, LDLR class A repeats-containing
Synonyms:
LR11,  Sorla,  2900010L19Rik,  mSorLA

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal gait Sorl1tm1b(EUCOMM)Wtsi HOM Early adult 4.76×10-07
abnormal snout morphology Sorl1tm1b(EUCOMM)Wtsi HOM Early adult 2.01×10-05
increased heart rate Sorl1tm1a(EUCOMM)Wtsi HOM   Late adult 9.85×10-05
abnormal retina morphology Sorl1tm1b(EUCOMM)Wtsi HOM Late adult 9.04×10-12
decreased prepulse inhibition Sorl1tm1a(EUCOMM)Wtsi HOM   Late adult 2.88×10-05
enlarged seminal vesicle Sorl1tm1b(EUCOMM)Wtsi HOM Late adult 0.00
decreased startle reflex Sorl1tm1a(EUCOMM)Wtsi HOM Late adult 1.72×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes
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 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 50% (1 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% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
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.

Echo

M-Mode Images

114 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images
Adult LacZ

LacZ Images Wholemount

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Sorl1 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 Sorl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Confusion, Dementia, Seman... ORPHA:1020

The table below shows human diseases predicted to be associated to Sorl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Memory impairment, Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis, ... OMIM:619132
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Dementia, Senile plaques, Neurofibrillary tangles DECIPHER:48
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
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
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Memory impairment, Lewy bodies, Frontotemporal dementia OMIM:619133
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Gonadal dysgenesis OMIM:615041
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Hippocampal atrophy, Senil... OMIM:608907
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Alzheimer Disease 4
Memory impairment, Neurofibrillary tangles, Cognitive impairment, Dementia, Senile plaques, Cereb... OMIM:606889
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Alzheimer Disease 2
Dementia, Neurofibrillary tangles OMIM:104310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Myeloma, Multiple
Amyloidosis OMIM:254500
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Alzheimer Disease, Familial, 1
Dementia, Neurofibrillary tangles OMIM:104300
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis OMIM:616208
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Amyotrophic Lateral Sclerosis 23
Dementia, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Amyotrophic Lateral Sclerosis 19
Dementia, Amyotrophic lateral sclerosis OMIM:615515
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Dementia, Amyotrophic lateral sclerosis OMIM:205200
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Dementia, Lewy Body
Dementia, Lewy bodies OMIM:127750
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles OMIM:605055
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Leber Hereditary Optic Neuropathy
Postural tremor, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Lewy bodies, Frontotempora... OMIM:607485
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Spongiform Encephalopathy With Neuropsychiatric Features
Dementia, Memory impairment, Neurofibrillary tangles OMIM:606688
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies, Dementia OMIM:616840
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Mental deterioration, Cerebellar atrophy, Cerebral atrophy OMIM:610951
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Dementia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Frontotemporal dementia, Amyotrophic lateral sclerosis OMIM:619141
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Alzheimer Disease 3
Dementia, Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles OMIM:607822
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Confusion, Dementia, Seman... ORPHA:1020
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Cerebral Amyloid Angiopathy, Cst3-Related
Dementia, Generalized amyloid deposition OMIM:105150
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Amyloidosis of peripheral nerves, Conf... ORPHA:282166
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Tremor ORPHA:276608
Abeta Amyloidosis, Dutch Type
Dementia, Mental deterioration, Cerebral amyloid angiopathy ORPHA:100006
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Dementia, Cerebral amyloid angiopathy OMIM:176500
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Early-Onset Lafora Body Disease
Confusion, Mental deterioration, Lafora bodies ORPHA:324290
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Parkinson Disease 4, Autosomal Dominant
Dementia, Lewy bodies OMIM:605543
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Tremor OMIM:613239
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Dementia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Stiff-Person Syndrome
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response OMIM:184850
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276556
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276575
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276580
Tetanus
Tremor, Opisthotonus, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Tremor OMIM:619737
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegener... OMIM:610217
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Mercury Poisoning
Hypotension, Tremor, Tachycardia, Dystonia, Hypertension ORPHA:330021
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Gerstmann-Straussler Disease
Dementia, Memory impairment, Cerebellar atrophy, Neurofibrillary tangles OMIM:137440
Parkinson Disease 8, Autosomal Dominant
Dementia, Lewy bodies OMIM:607060
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
Congenital Fibrinogen Deficiency
Tachycardia, Opisthotonus, Internal hemorrhage ORPHA:335
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia OMIM:613205
Amyloidosis, Hereditary Systemic 2
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Abnormal lower motor ne... OMIM:614298
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Cerebral Amyloid Angiopathy, App-Related
Dementia, Cerebral amyloid angiopathy OMIM:605714
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Niemann-Pick Disease, Type C1
Dementia, Neurofibrillary tangles, Neuronal loss in central nervous system OMIM:257220
Parkinson Disease 1, Autosomal Dominant
Dementia, Mental deterioration, Global brain atrophy, Lewy bodies OMIM:168601
Parkinson Disease, Late-Onset
Dementia, Lewy bodies, Neuronal loss in central nervous system OMIM:168600
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Waisman Syndrome
Dementia, Lewy bodies OMIM:311510
Tularemia
Tachycardia ORPHA:3392
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
Epilepsy, Progressive Myoclonic, 10
Dementia, Lafora bodies, Cognitive impairment OMIM:616640
Primary Progressive Freezing Gait
Dementia, Cerebral cortical atrophy, Lewy bodies ORPHA:75567
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dementia OMIM:300894
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Tremor ORPHA:263455
Supranuclear Palsy, Progressive, 1
Memory impairment, Neurofibrillary tangles, Cerebral atrophy, Frontolimbic dementia, Neuronal los... OMIM:601104
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tremor, Subarac... ORPHA:90068
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension, Tremor ORPHA:43116
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Supranuclear Palsy, Progressive, 2
Memory impairment, Neurofibrillary tangles, Frontolimbic dementia, Neuronal loss in central nervo... OMIM:609454
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure ORPHA:49827
Idiopathic Camptocormia
Cerebral atrophy, Frontotemporal dementia, Lewy bodies, Amyotrophic lateral sclerosis ORPHA:1320
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dystonia, Dilated cardiomyopathy, Generalized dystonia OMIM:618321
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Parkinson Disease 2, Autosomal Recessive Juvenile
Dementia, Lewy bodies, Cerebral atrophy OMIM:600116
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Tremor, Arrhythmia, Brad... ORPHA:94093
Adult-Onset Dystonia-Parkinsonism
Generalized cerebral atrophy/hypoplasia, Frontotemporal dementia, Neurofibrillary tangles, Fronto... ORPHA:199351
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi... OMIM:614921
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Parkinson Disease 21
Lewy bodies OMIM:616361
Myoclonic Epilepsy Of Lafora 1
Progressive neurologic deterioration, Lafora bodies, Dementia OMIM:254780
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Tremor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerat... OMIM:608643
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Parkinsonian-Pyramidal Syndrome
Dementia, Lewy bodies, Cognitive impairment ORPHA:171695
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Laryngeal dyst... ORPHA:36913
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Hereditary Late-Onset Parkinson Disease
Dementia, Mental deterioration, Lewy bodies, Cerebral cortical atrophy ORPHA:411602
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis OMIM:105120
Niemann-Pick Disease, Type C2
Dementia, Neurofibrillary tangles OMIM:607625
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Acute Intermittent Porphyria
Tachycardia, Hypertension, Tremor ORPHA:79276
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension ORPHA:71273
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Graft Versus Host Disease
Tachycardia ORPHA:39812
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia OMIM:617877
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Amyloidosis, Hereditary Systemic 1
Dementia, Confusion, Amyloidosis OMIM:105210
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response ORPHA:309155
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Lafora Disease
Mental deterioration, Confusion, Lafora bodies, Dementia, Brain atrophy ORPHA:501
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis ORPHA:439232
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Mirizzi Syndrome
Tachycardia ORPHA:521219
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Premature ventri... OMIM:300855
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Resting tremor, Reduced left ventricular ejection fraction, Palpitations,... ORPHA:254892
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr... ORPHA:280365
Degcags Syndrome
Tachycardia, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:619488
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia OMIM:620475
Developmental And Epileptic Encephalopathy 111
Premature ventricular contraction, Hypertension, Sinus tachycardia OMIM:620504
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Pulmonic stenosis, Exaggerated startle response OMIM:253800
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response ORPHA:79255
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab... ORPHA:558
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology ORPHA:3384
Legius Syndrome
Paroxysmal atrial tachycardia, Dystonia, Pulmonic stenosis ORPHA:137605
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Tremor, Supraventricular arrhythmia, Ventric... ORPHA:91347
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Q Fever
Amyloidosis ORPHA:781
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype... ORPHA:99125
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension OMIM:602535
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Familial Mediterranean Fever
Amyloidosis ORPHA:342
Alkaptonuria
Amyloidosis ORPHA:56
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Pulmonic stenosis, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Sorl1

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 Sorl1.

No publications found that use IMPC mice or data for Sorl1.

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
Sorl1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sorl1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Sorl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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