Gene Summary

Name:
endoplasmic reticulum metallopeptidase 1
Synonyms:
D19Ertd410e,  D19Wsu12e,  b2b2633Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
shortened PR interval Ermp1tm1.1(KOMP)Vlcg HOM Early adult 1.75×10-05
decreased circulating glucose level Ermp1tm1.1(KOMP)Vlcg HOM   Early adult 6.46×10-05
increased circulating sodium level Ermp1tm1.1(KOMP)Vlcg HOM Early adult 2.94×10-05
increased circulating chloride level Ermp1tm1.1(KOMP)Vlcg HOM Early adult 7.34×10-05
decreased circulating calcium level Ermp1tm1.1(KOMP)Vlcg HOM Early adult 8.49×10-06
shortened PQ interval Ermp1tm1.1(KOMP)Vlcg HOM Early adult 9.17×10-06

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Sleep Wake

Wake state (bmp file)

12 Images

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

1 Images

Human diseases caused by Ermp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ermp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... OMIM:231060
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Holzgreve Syndrome
Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Smooth philtrum, Urethral stenosis, Hypoplast... ORPHA:1727
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia,... OMIM:261740
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Thyrotoxic Periodic Paralysis
Palpitations, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphat... ORPHA:79102
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermili... OMIM:601927
Phenobarbital Embryopathy
Unilateral cleft lip, Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval, Hypoglycemia OMIM:601005
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia, Cleft palate OMIM:221950
Mmep Syndrome
Oral cleft, Microphthalmia, Median cleft lip, Ventricular septal defect ORPHA:3434
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hypotension, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Everted lower lip vermilion, Cleft lip, Micro... OMIM:616920
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate ORPHA:3316
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis OMIM:617577
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Cleft upper lip, Cleft palate OMIM:613885
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Right aortic ar... OMIM:147770
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Pr... ORPHA:36913
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Oral cleft, Cleft upper lip, Abnormal heart morphology OMIM:233430
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Abnormally large globe, Ventricular septal defect OMIM:603387
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip and palate, Anophthalmia OMIM:600776
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Adamantinoma
Hypercalcemia ORPHA:55881
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Open mouth, Pierre-Robin ... OMIM:192430
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Orofacial Cleft 14
Median cleft lip OMIM:615892
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Elevated circulating creatine... ORPHA:94093
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... OMIM:600987
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Shortened PR interval, Wolff-Parkinson-White ... OMIM:232300
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Ventricular ta... ORPHA:137675
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Crossed fused renal ectopia, Abnormality of the philt... ORPHA:2919
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Nathalie Syndrome
Abnormal EKG OMIM:255990
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Uni... OMIM:618845
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Trisomy 13
Long philtrum, Atrial septal defect, Multiple renal cysts, Ventricular septal defect, Patent duct... ORPHA:3378
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:203400
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis OMIM:615508
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Microphthalmia, Syndromic 8
Oral cleft, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary central incisors OMIM:601349
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Elevated circula... ORPHA:308552
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Orthostatic hypotension, Hyponatremia, Increased circulating renin level OMIM:610600
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Cleft upper lip ORPHA:85287
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Cleft palate... ORPHA:3426
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Vent... ORPHA:26793
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Cleft palate, Dextrocardia, Glossoptosis, Cleft ... OMIM:616145
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-gl... ORPHA:3008
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:179613
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Cerebrooculonasal Syndrome
Long philtrum, Solitary median maxillary central incisor, U-Shaped upper lip vermilion, Anophthal... ORPHA:66625
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225000
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia OMIM:615524
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Propionic Acidemia
Cardiomyopathy, Hyperammonemia, Arrhythmia, Hypoglycemia ORPHA:35
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Vesi... ORPHA:1166
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Anophthalmia Plus Syndrome
Anophthalmia, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate ORPHA:1104
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Glossoptosis, Micropenis, ... OMIM:618021
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Fryns Syndrome
Intestinal malrotation, Vesicoureteral reflux, High palate, Median cleft lip, Long philtrum, Non-... ORPHA:2059
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level OMIM:177735
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Cleft palate ORPHA:1681
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Coarctation of aorta, Patent ductus arteriosu... OMIM:600460
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Orofaciodigital Syndrome V
Horseshoe kidney, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median clef... OMIM:174300
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, ... ORPHA:1381
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmonic stenosis, Doub... ORPHA:3304
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft palate OMIM:164180
Cholera
Hypocalcemia, Hypotension, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokale... ORPHA:173
Perlman Syndrome
Interrupted aortic arch, Open mouth, Long upper lip, Tented upper lip vermilion, Renal hamartoma,... OMIM:267000
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hypotension, Hyponatremia OMIM:264350
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Frontonasal Dysplasia 1
Median cleft palate, Microphthalmia, Tetralogy of Fallot, Widely-spaced maxillary central incisor... OMIM:136760
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Orofaciodigital Syndrome Xvii
Renal hypoplasia, High, narrow palate, Tetralogy of Fallot, Micropenis, Median cleft lip OMIM:617926
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal def... OMIM:608572
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... OMIM:300712
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Ectopic anus, Hypoplastic left heart, Cleft palate ORPHA:2476
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... ORPHA:449285
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Hyperkalemic Periodic Paralysis
Arrhythmia, Hyponatremia, Hypokalemia, Congestive heart failure, Elevated circulating creatine ki... ORPHA:682
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Hemifacial Microsomia
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Wide mouth, Anophthalm... OMIM:164210
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Long philtrum, Interrupted aortic arch, Patent ductus arteriosus, Vesicoureteral r... ORPHA:250989
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palate, Cleft upper lip OMIM:601165
Hardikar Syndrome
Patent foramen ovale, Ventricular septal defect, Hydroureter, Coarctation of aorta, Patent ductus... OMIM:612726
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Thick vermilion border, Anophthalmia, Abnormal space... ORPHA:411986
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Solitary Median Maxillary Central Incisor
Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cleft upper lip, Anop... OMIM:147250
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Hydrolethalus
Anophthalmia, Gingival cleft, Unilateral cleft lip, Microphthalmia, Cleft palate, Bifid uvula, Su... ORPHA:2189
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Intellectual Disability, Wolff Type
Non-midline cleft lip, Oral cleft, Hypospadias, Abnormal intestine morphology, Thick lower lip ve... ORPHA:3080
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Truncus arteriosus, Smooth philtrum, Cleft palate OMIM:611867
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Hydronephros... ORPHA:251076
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Arteri... ORPHA:1110
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Hypovolemic shock, Hyperkalemia ORPHA:171876
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Non-midline cleft lip, Tooth agenesis ORPHA:1406
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Hypoketotic hypoglycemia, Tricuspid regurgitation, Congestive heart fai... ORPHA:746
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Microphthalmia With Limb Anomalies
Deep philtrum, Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, High palate OMIM:206920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Feingold Syndrome Type 1
Tricuspid atresia, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morphology, Patent d... ORPHA:391641
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Hyp... ORPHA:276556
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Baraitser-Winter Syndrome 1
Long philtrum, Patent ductus arteriosus, Wide mouth, Oral cleft, Thin upper lip vermilion, Aortic... OMIM:243310
Mental Retardation, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Smooth philtrum, Downturned corners of mouth OMIM:613192
Necrotizing Enterocolitis
Hypotension, Hyponatremia, Shock, Hyperglycemia, Bradycardia, Abnormal glucose homeostasis ORPHA:391673
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Trisomy 1Q
Narrow mouth, Ventricular septal defect, Congenital megaureter, Patent ductus arteriosus, Multicy... ORPHA:261344
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Microphthalmia, Anophtha... ORPHA:77298
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular... ORPHA:477817
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft upper lip, Cleft palate, Tetralogy of ... OMIM:153400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Intestinal malrotatio... OMIM:265380
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Cleft upper lip, Cleft palate OMIM:244600
Gitelman Syndrome
Hypocalcemia, Palpitations, Hypermagnesemia, Maternal diabetes, Glucose intolerance, Insulin resi... ORPHA:358
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Digeorge Syndrome
Right aortic arch with mirror image branching, Short philtrum, Truncus arteriosus, Interrupted ao... OMIM:188400
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, Hydronephrosis, Cleft upper lip, Cleft palate, High pa... OMIM:602418
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis, Elev... ORPHA:79159
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia OMIM:609016
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hereditary Coproporphyria
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia ORPHA:91354
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... ORPHA:163979
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Elevated circula... ORPHA:365
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Hydronephrosis, Clef... ORPHA:1926
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hematochezia OMIM:175500
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cleft upper lip, Cleft palate OMIM:612530
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Maternal Phenylketonuria
Long philtrum, Abnormal heart morphology, Ventricular septal defect, Esophageal atresia, Double o... ORPHA:2209
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225060
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Cleft palate OMIM:601016
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Narrow mouth, Patent ductus arteriosu... OMIM:615502
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Bi... ORPHA:2306
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Anal ... OMIM:612946
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Anal a... ORPHA:2008
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Autosomal Recessive Amelia
Oral cleft, Abnormal cardiac septum morphology, Non-midline cleft lip, Hypoplasia of penis ORPHA:1027
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Fibromuscular Dysplasia, Arterial
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Oculoauriculovertebral Spectrum With Radial Defects
Wide mouth, Non-midline cleft lip, Distal urethral duplication, Oral cleft, Ectopic anus, Aplasia... ORPHA:2549
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Mitral valve prolapse, Thoracic aortic aneurysm, High palate, Ascending aortic... OMIM:616166
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Dextrocardia, Cleft upper lip, Cleft palate, Abnormal cardiac septum ... OMIM:614294
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hartsfield Syndrome
Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:2117
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Cleft upper lip, Cleft palate OMIM:244200
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, High, narrow palate OMIM:607597
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft upper lip, Cleft palate OMIM:214300
Recombinant 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... ORPHA:96167
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Cleft palate OMIM:601355
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Microglossia, Cleft palate, Micropenis, Median cleft lip OMIM:241800
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Cleft upper lip, Cleft palate, Hypospadias, Transpositi... OMIM:313850
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Acrofacial Dysostosis, Palagonia Type
Unilateral cleft lip, Oligodontia, Cleft upper lip OMIM:601829
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Charge Syndrome
Delayed eruption of teeth, Horseshoe kidney, Narrow mouth, Interrupted aortic arch, Abnormal soft... ORPHA:138
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Cleft palate OMIM:300484
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Abnormal heart morphology, Ectopic kidney, Cleft upper lip, Cleft palate OMIM:239800
Hemifacial Microsomia With Radial Defects
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami OMIM:141400
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Bilateral cleft lip and palate, Intestinal ... ORPHA:2001
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:614702
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Solitary median maxillary central incisor, M... OMIM:301043
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft upper lip, Cleft palate OMIM:609654
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation... OMIM:244300
Microphthalmia, Syndromic 5
Cleft palate, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Micropenis OMIM:610125
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Dysplastic pulmonary valve, Cleft upper lip, Cleft palate OMIM:300958
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Intestinal malrotation, Dextrocardia, Double outlet right ventricle, Meso... OMIM:605376
Aortic Aneurysm, Familial Thoracic 10
Dental crowding, Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Hi... OMIM:617168
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Opitz Gbbb Syndrome, Type I
Abnormal heart morphology, Smooth philtrum, Thin upper lip vermilion, Hypospadias, Anal atresia, ... OMIM:300000
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating ... OMIM:310200
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic tetany, Sudden cardiac death, Congestive heart... ORPHA:73224
Juberg-Hayward Syndrome
Anteriorly placed anus, Horseshoe kidney, Cleft upper lip OMIM:216100
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent ... OMIM:239711
Meckel Syndrome, Type 5
Microphthalmia, Cleft upper lip, Cleft palate OMIM:611561
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Chromosome 18Q Deletion Syndrome
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Pat... OMIM:601808
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, High, na... ORPHA:2516
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Hypotension, Ketotic hypoglycemia, Hyponatremia, Hyperkalemia, Hypertrophi... ORPHA:361
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Elevated circulating creatinine concen... ORPHA:411634
Fetal Alcohol Syndrome
Atrial septal defect, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Microphth... ORPHA:1915
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Narrow palate, Dental crowding, Natal tooth, Intestinal malrotation, Patent ductus... ORPHA:353281
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Zechi-Ceide Syndrome
Oligodontia, Cleft upper lip, Cleft palate OMIM:612916
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anophthalmia, Microphthalmia, Anal stenosis OMIM:248450
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Pulmonary... ORPHA:1908
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abn... ORPHA:466650
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Optic nerve hypoplasia, ... OMIM:206900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Lacunar stroke OMIM:618440
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate OMIM:601076
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent ductus arteriosus, Oral cleft, Methylmalonic aciduria, Coarctatio... ORPHA:17
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus, Hypodontia, Selective tooth agenesis, Cleft ... OMIM:106260
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Tooth malposi... ORPHA:96170
Holoprosencephaly
Median cleft lip and palate, Hypoplasia of penis, Broad philtrum, Ventricular septal defect, Prot... ORPHA:2162
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Decreased circul... ORPHA:231625
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cle... ORPHA:1335
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Absent cupid's bow, Increased axial length of the globe, Cleft palate,... ORPHA:513456
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Triploidy
Macroglossia, Narrow mouth, Intestinal malrotation, Wide mouth, Non-midline cleft lip, Cleft pala... ORPHA:3376
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricemia, Increased circula... ORPHA:95409
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Oral cleft, Incomplete cleft of the upper lip, Intestinal malrotation, Deep philtrum ORPHA:77300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Abnormality of the dentition, Median cleft lip, Cleft palate ORPHA:1794
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371