Gene Summary

Name:
smoothened, frizzled class receptor
Synonyms:
E130215L21Rik

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
preweaning lethality, complete penetrance Smotm1b(KOMP)Wtsi HOM   Early adult 0.00
prolonged RR interval Smotm1b(KOMP)Wtsi HET   Early adult 3.51×10-07
embryonic lethality prior to tooth bud stage Smotm1b(KOMP)Wtsi HOM   E12.5 0.00
abnormal skin morphology Smotm1b(KOMP)Wtsi HET Early adult 0.00
decreased heart rate Smotm1b(KOMP)Wtsi HET   Early adult 6.13×10-07
preweaning lethality, complete penetrance Smotm1Amc HOM   Early adult 0.00
abnormal embryo development Smotm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo turning Smotm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal pericardium morphology Smotm1b(KOMP)Wtsi HOM E9.5 0.00
increased heart rate variability Smotm1b(KOMP)Wtsi HET Early adult 2.94×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 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 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 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 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (2 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 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%
cecum 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%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

Histopathology

Images

2 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pallister-Hall-Like Syndrome
Short stature, Occipital encephalocele, Hydrocephalus OMIM:241800
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
Curry-Jones Syndrome
Optic disc coloboma, Iris coloboma ORPHA:1553
Meningioma
Hydrocephalus ORPHA:2495
Hirschsprung Disease
Short stature ORPHA:388
Basal Cell Carcinoma, Susceptibility To, 1
OMIM:605462

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Nathalie Syndrome
Arrhythmia ORPHA:2663
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Vissers-Bodmer Syndrome
Short stature, Holoprosencephaly, Intrauterine growth retardation OMIM:619033
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Hydranencephaly OMIM:617967
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Illum Syndrome
Bradycardia OMIM:208155
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Hartsfield Syndrome
Intrauterine growth retardation, Lobar holoprosencephaly, Encephalocele ORPHA:2117
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Holoprosencephaly, Hydranencephaly ORPHA:2570
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut... ORPHA:1908
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Verheij Syndrome
Coloboma, Truncus arteriosus, Intrauterine growth retardation, Short neck, Ventricular septal def... OMIM:615583
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Thanatophoric Dysplasia Type 2
Short stature, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Distal Deletion 13Q
Short stature, Holoprosencephaly, Anencephaly, Encephalocele ORPHA:1590
Microtia-Anotia
Holoprosencephaly OMIM:600674
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly OMIM:601357
Distal Monosomy 7Q36
Short stature, Holoprosencephaly ORPHA:1636
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Ring Chromosome 21 Syndrome
Short stature, Holoprosencephaly ORPHA:1445
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Branchial anomaly, Webbed neck ORPHA:1131
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Variegate Porphyria
Tachycardia OMIM:176200
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Triploidy
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:3376
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Monosomy 18P
Short stature, Holoprosencephaly ORPHA:1598
1Q41Q42 Microdeletion Syndrome
Short stature, Holoprosencephaly, Growth delay ORPHA:250999
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Holoprosencephaly, Hydrocephalus ORPHA:77298
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Coloboma, Increased nuchal translucency, Abnorm... ORPHA:453499
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Holoprosencephaly ORPHA:2163
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Microtia
Holoprosencephaly ORPHA:83463
Solitary Median Maxillary Central Incisor
Short stature, Holoprosencephaly OMIM:147250
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly ORPHA:2165
Agnathia-Otocephaly Complex
Holoprosencephaly OMIM:202650
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Pancreatic Agenesis-Holoprosencephaly Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Holoprosencephaly ORPHA:556955
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Microform Holoprosencephaly
Intrauterine growth retardation, Holoprosencephaly, Short stature ORPHA:280200
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Holoprosencephaly OMIM:612530
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Branchiootic Syndrome
Branchial fistula ORPHA:52429
D-Glyceric Aciduria
Bradycardia OMIM:220120
49,Xxxxy Syndrome
Short stature, Holoprosencephaly ORPHA:96264
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen... ORPHA:63259
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly, Intrauterine growth retardation OMIM:269860
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Holoprosencephaly... ORPHA:2162
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Bor Syndrome
Branchial cyst ORPHA:107
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Trisomy 18
Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Encephalitis Lethargica
Bradycardia ORPHA:83600
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Halperin-Birk Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Umbilical hernia OMIM:618651
16P13.11 Microdeletion Syndrome
Short stature, Holoprosencephaly ORPHA:261236
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Pallister-Hall Syndrome
Short stature, Growth delay, Neonatal death, Holoprosencephaly, Intrauterine growth retardation OMIM:146510
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... ORPHA:94093
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia OMIM:277400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Growth delay, Lobar holoprosencephaly, Neonatal death, Intrauterine ... OMIM:618500
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Lobar holoprosencephaly OMIM:614701
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Holoprosencephaly 14
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Alobar holoprosencephaly OMIM:619895
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation OMIM:261990
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Coloboma, Increased nuchal translucency, Abnormal heart morphology, Cystic hyg... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Coloboma, Increased nuchal translucency, Abnormal heart morphology, Cystic hyg... ORPHA:352665
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Umbilical hernia ORPHA:2166
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Jacobsen Syndrome
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus OMIM:147791
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly OMIM:612651
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Holoprosencephaly, Short stature, Growth delay ORPHA:1052
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Crimean-Congo Hemorrhagic Fever
Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... ORPHA:99827
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Intrauterine growth retardation, Atrial septal defect, Ventricular septal def... ORPHA:261330
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Monosomy 13Q14
Intrauterine growth retardation, Holoprosencephaly, Short stature ORPHA:1587
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Hartsfield Syndrome
Growth delay, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly OMIM:615465
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth retardation ORPHA:818
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Isolated Exencephaly
Holoprosencephaly ORPHA:563612
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Occipital meningocele, Holoprosencephaly OMIM:610829
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Aqueductal stenosis, Short stature, Holoprosenceph... ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Natal tooth, Optic disc coloboma, Right ventricular hypertrophy, Intrauteri... OMIM:620186
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth retardation OMIM:270400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Lobar holoprosencephaly, Severe short stature ORPHA:468631
Chromosome 13Q14 Deletion Syndrome
Growth delay, Holoprosencephaly, Umbilical hernia OMIM:613884
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... ORPHA:99826
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Iris coloboma ORPHA:861
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171300
Ring Chromosome 7 Syndrome
Short stature, Severe intrauterine growth retardation, Holoprosencephaly ORPHA:1449
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... ORPHA:508488
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Meckel Syndrome
Hydrocephalus, Lobar holoprosencephaly, Anencephaly, Encephalocele ORPHA:564
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly ORPHA:3186
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly OMIM:618820
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly OMIM:301043
Holoprosencephaly 1
Short stature, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Intrauterine growth retardation, Semilobar holoprosencephaly, Growth delay OMIM:301044
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Pituitary dwarfism, Holoprosencephaly, Growth delay ORPHA:95494
Holoprosencephaly 2
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Pallister-Hall Syndrome
Intrauterine growth retardation, Holoprosencephaly, Short stature, Umbilical hernia ORPHA:672
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Holoprosencephaly OMIM:615948
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrauterine growth retardation, Sho... OMIM:113620
Proboscis Lateralis
Holoprosencephaly ORPHA:141099
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Charge Syndrome
Postnatal growth retardation, Holoprosencephaly, Delayed puberty, Umbilical hernia OMIM:214800
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Umbilical hernia OMIM:107480
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly OMIM:129900
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Branchial fistula, Iris coloboma OMIM:613406
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Ventricular septa... OMIM:164210
X-Linked Cerebral Adrenoleukodystrophy
Abnormal spinal cord morphology, Myelopathy ORPHA:139396
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Adrenomyeloneuropathy
Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:139399
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Holt-Oram Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... OMIM:142900
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Spina bifida occulta, Encephalocele, Myelomeningocele, Spina b... ORPHA:2369
Pallister-Hall-Like Syndrome
Short stature, Occipital encephalocele, Hydrocephalus OMIM:241800
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology ORPHA:68
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Tetrasomy 9P
Abnormal spinal cord morphology, Umbilical hernia ORPHA:3310
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
Curry-Jones Syndrome
Optic disc coloboma, Iris coloboma ORPHA:1553
Meningioma
Hydrocephalus ORPHA:2495
Hirschsprung Disease
Short stature ORPHA:388
Basal Cell Carcinoma, Susceptibility To, 1
OMIM:605462

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 Smo

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 Smo.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Therapeutic silencing of SMOC2 prevents kidney function loss in mouse model of chronic kidney disease. iScience (September 2021) Smoc2tm1.1(KOMP)Vlcg PMC8524153
Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse. ILAR journal (July 2017) Smoc1tm1a(EUCOMM)Wtsi PMC5886341
Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2. Current biology : CB (May 2017) Smoc2tm1.1(KOMP)Vlcg PMC5462623
Silencing SMOC2 ameliorates kidney fibrosis by inhibiting fibroblast to myofibroblast transformation. JCI insight (April 2017) Smoc2tm1.1(KOMP)Vlcg PMC5396522
Eye development genes and known syndromes. Molecular genetics and metabolism (September 2011) Smoc1tm1a(EUCOMM)Wtsi PMC3224152
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS genetics (July 2011) Smoc1tm1a(EUCOMM)Wtsi PMC3131273

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
Smotm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Smotm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Smotm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Smotm199121(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter