Gene Summary

Name:
castor zinc finger 1
Synonyms:
2410019P08Rik,  Cst,  D4Ertd432e,  castor

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
persistence of hyaloid vascular system Casz1tm1b(EUCOMM)Hmgu HET Early adult 5.33×10-05
preweaning lethality, complete penetrance Casz1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.74% (4 of 537)
aorta 0.19% (1 of 528)
bone 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
esophagus 1.63% (6 of 367)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 537)
oral epithelium 0.0%
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
uterus 0.38% (2 of 527)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.26% (6 of 477)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
eye 0.21% (1 of 480)
footplate 0.21% (1 of 480)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
heart 0.21% (1 of 471)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
liver 0.21% (1 of 474)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
midbrain 0.21% (1 of 471)
oral cavity 0.21% (1 of 470)
skin 0.0%
tail 0.21% (1 of 470)
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

20 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Casz1 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 Casz1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
1P36 Deletion Syndrome
Annular pancreas, Abnormal cardiac septum morphology, Abnormal eyebrow morphology, Generalized hi... ORPHA:1606

The table below shows human diseases predicted to be associated to Casz1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopathy, Congestive... OMIM:618234
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Carvajal Syndrome
Dilated cardiomyopathy, Woolly hair, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Cholestasis, Heart murmur, Pulmonic valve myxoma... ORPHA:615
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, C... OMIM:605676
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure ORPHA:2022
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Flexion contracture, He... ORPHA:367
Infantile Sialic Acid Storage Disease
Fair hair, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart f... OMIM:269920
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... ORPHA:563
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transa... OMIM:212140
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... ORPHA:85451
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated h... OMIM:235200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Conge... ORPHA:163596
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... ORPHA:98909
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Sudden cardiac death, Paroxysmal ven... ORPHA:34217
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Patent ductus arteriosus... ORPHA:90308
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Periorbital edema, Edema, Lymphadenopathy, C... ORPHA:3386
Naxos Disease
Sparse eyebrow, Sudden cardiac death, Right bundle branch block, Curly hair, Cardiomegaly, Abnorm... OMIM:601214
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bra... OMIM:261740
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... ORPHA:49827
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Camptodactyly of finger, ... ORPHA:1194
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur ORPHA:3400
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Highly arched eyebrow, Polyhydramnios, Facial hypotonia, Decreased muscle m... ORPHA:500533
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Cir... ORPHA:79083
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abn... ORPHA:2348
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double outlet right ventricle OMIM:601127
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614429
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac ... OMIM:607450
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... OMIM:617021
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Cardiomega... OMIM:253250
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure ORPHA:796
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Hepatic steatosi... ORPHA:70472
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Hypertension... ORPHA:90970
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... OMIM:610198
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... ORPHA:52430
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Myopathy, Congestive heart failure ORPHA:157973
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, High-output congestive heart failure, Chylothorax, Abnormality of the ... ORPHA:137667
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Cholangiocarcinoma, Decreased muscle mass, Hepatomegaly, Splenomegaly, Cirrhosis,... ORPHA:465508
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Craniofaciofrontodigital Syndrome
Hypertrichosis, Sacral hypertrichosis, Ventricular septal defect, Gastrointestinal hemorrhage, Ca... ORPHA:363705
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormality of the liver, Congestive heart failure ORPHA:132
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Hepatic failure, Camptodactyly of finge... ORPHA:261519
Gm1-Gangliosidosis, Type I
Hypertrichosis, Hepatomegaly, Splenomegaly, Hydrops fetalis, Short neck, Dilated cardiomyopathy, ... OMIM:230500
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... ORPHA:732
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Fetal Minoxidil Syndrome
Ventricular septal defect, Generalized hirsutism ORPHA:1918
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... OMIM:613759
Dk1-Cdg
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Elevated hepatic transamina... ORPHA:91131
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Elevated circulating aspartate aminotransferase concentration, Chole... OMIM:609015
Stuve-Wiedemann Syndrome 2
Neonatal death, Camptodactyly, Pulmonary arterial hypertension, Stillbirth, Congestive heart failure OMIM:619751
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Acute hepatic failure, EMG: myopathic abnormalities, Sudden cardiac death,... ORPHA:99901
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Cholestasis, Hematochezia, Elevated hepatic transamina... OMIM:615895
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Atrial septal defect ORPHA:1388
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiom... OMIM:611126
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Right ventricular outlet tract obstruction, Left ventricular hypertrophy, ... ORPHA:99094
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... OMIM:607598
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Left ventricular hypertrophy, Shor... OMIM:615355
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ed... ORPHA:980
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhythmia, Lower li... ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Gastroi... ORPHA:85446
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... ORPHA:565612
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Low anterior hairline, Atrial septal defect OMIM:608227
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Hepatomegaly, Macroglossia, Skeletal muscle hypertrophy, C... ORPHA:528
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Scimitar Syndrome
Tricuspid atresia, Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary ... ORPHA:185
Barth Syndrome
Fair hair, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, ... OMIM:302060
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Highly arched eyebrow, Tetralogy of Fallot ORPHA:251076
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis ORPHA:306550
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hepatic steatosis, Hypertension, Congestive heart failure OMIM:615703
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low anterior hairline, Atrial septal defect, Hepatomegaly, Flexion contracture, Spleno... OMIM:617303
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Pulmonic stenosis, Short neck, Ventricular septal defect, Webbed neck, Hype... OMIM:615279
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Sparse hair, Sparse eyebrow, Sparse eyelashes OMIM:616901
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Congenital posterior occip... OMIM:115250
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hypertrichosis, Low anterior hairline, Hepatomegaly, Jaundice, Splenome... OMIM:608779
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Gm1 Gangliosidosis
Hirsutism, Generalized hirsutism, Macroglossia, Splenomegaly, Hepatosplenomegaly, Camptodactyly o... ORPHA:354
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot OMIM:618624
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Generalized hirsutism, Pancreatitis, Hepatomegaly, Splenomegaly, Ske... ORPHA:280365
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestiv... OMIM:619259
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... OMIM:616589
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Roifman Syndrome
Hip contracture, Hepatomegaly, Splenomegaly, Prominent eyelashes, Ventricular septal defect, Nonc... OMIM:616651
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Arrhythmia, Increased intramyocellular lipid droplets, Rh... ORPHA:26791
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Sparse lateral eyebrow ORPHA:261120
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Elevated hepatic tra... ORPHA:67
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Hepatosplenomegaly... OMIM:309900
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegal... OMIM:606003
Babesiosis
Hepatomegaly, Hepatic failure, Splenomegaly, Myocardial infarction, Jaundice, Congestive heart fa... ORPHA:108
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... OMIM:613870
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
King-Denborough Syndrome
Webbed neck, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Short neck,... OMIM:619542
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Distichiasis, Patent ductus arteriosus, Pedal edema, Sinus bradycardia OMIM:126320
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141179
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Left ventricular hypertrophy, Elevated hepatic transaminase, Cerebral edema, Con... OMIM:619355
Mucopolysaccharidosis Type 1
Generalized hirsutism, Low anterior hairline, Splenomegaly, Abnormal tendon morphology, Abnormal ... ORPHA:579
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, T-wave alternans, Second de... OMIM:618782
Vici Syndrome
Left ventricular hypertrophy, Hypopigmentation of hair, Albinism, Dilated cardiomyopathy, Abnorma... OMIM:242840
Mcdonough Syndrome
Diastasis recti, Aortic valve stenosis, Atrial septal defect, Sparse hair, Pulmonic stenosis, Ven... OMIM:248950
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Aortic regurgitation, Edema, Congestive heart failure ORPHA:1054
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Stillbirth OMIM:263630
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cednik Syndrome
Congestive heart failure ORPHA:66631
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Truncus arteriosus OMIM:601355
Desbuquois Syndrome
Sparse hair, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Short... ORPHA:1425
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... ORPHA:308552
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... OMIM:608149
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrichosis, Hypertrophic cardiomyopathy ORPHA:255241
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Li-Campeau Syndrome
Hypertrichosis, Atrial septal defect, Thick eyebrow, Ventricular septal defect, Patent ductus art... OMIM:619189
Weill-Marchesani Syndrome
Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Isolated Klippel-Feil Syndrome
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Low posterio... ORPHA:2345
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Myositis, Myo... ORPHA:183
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Hypertrichosis, Atrial septal defect, Tricuspid regurgitation, Flexion... ORPHA:505248
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Left-to-right shunt, Left ventricular outflow tract... ORPHA:99050
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Hepatomegaly, Tach... ORPHA:137675
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis ORPHA:3405
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Cervical lymphadenopathy, Port... ORPHA:3260
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Right ventricular hypertro... OMIM:208085
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Noonan Syndrome 9
Sparse eyebrow, Pulmonic stenosis, Short neck, Ventricular septal defect, Webbed neck, Curly hair OMIM:616559
Hadziselimovic Syndrome
Low anterior hairline, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Vent... OMIM:612946
Carney Complex, Type 1
Hirsutism, Cardiac myxoma, Red hair, Congestive heart failure OMIM:160980
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Aortic valve stenosis, Sparse hair, Absent eyebrow, Mitral regurgitation, I... ORPHA:363618
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Short neck, Ventricular ... OMIM:617022
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Diastasis recti, Abnormal heart morphology ORPHA:254534
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Left v... OMIM:619167
Tyshchenko Syndrome
Low anterior hairline, Atrial septal defect, Supernumerary nipple, Pulmonic stenosis, Ventricular... OMIM:615102
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
8Q12 Microduplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect ORPHA:228399
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Low anterior hairline, Aortic valve stenosis, Atrial septal defec... OMIM:601808
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Patent ductus arteri... ORPHA:290
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Low posterior hairline OMIM:214300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Highly arched eyebrow ORPHA:94066
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aorti... ORPHA:2326
Triosephosphate Isomerase Deficiency
Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Oligohydramni... OMIM:615512
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial s... ORPHA:210122
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Frontal hirsutism OMIM:615236
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Yellow nails, Arrhythmia, Tetralogy of Fallot, Ventricular s... OMIM:153400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Jaundice, Tachycardia, Arrhythmia, Exercise-induced rhabdomyo... ORPHA:26793
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot ORPHA:1166
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hydrops fetalis, Short neck, Ventricular septal defect, Polyhydramnios, Asci... OMIM:616897
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios, Abnormality of mesentery morphology ORPHA:2256
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Mitral regurgitation, L... OMIM:616564
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Mitral... ORPHA:324
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Elevated cir... OMIM:614921
Aarskog-Scott Syndrome
Camptodactyly of finger, Short neck, High anterior hairline, Congestive heart failure ORPHA:915
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Simple Cryoglobulinemia
Abnormal heart morphology, Viral hepatitis, Raynaud phenomenon, Vasculitis, Myocardial infarction... ORPHA:91139
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Webbed neck, Short neck, Truncus arteriosus ORPHA:2516
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Tetralogy ... ORPHA:3426
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Leigh Syndrome With Cardiomyopathy
Decreased liver function, Hypertrichosis, Pulmonic stenosis, Mitral regurgitation, Dilated cardio... ORPHA:70474
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Colchicine Poisoning
Alopecia, Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Cong... ORPHA:31824
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Ventricular septal defect, Alopecia totalis, Hypert... OMIM:618775
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Abnormal hair whorl, Right ventricular hypertrophy, Ventricular septal defe... OMIM:614261
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Alopecia, Elevated hepatic transaminase, Dilated cardiomy... OMIM:203800
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Synophrys, Truncus arteriosus, Abnormal heart mo... ORPHA:401935
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Short neck, Ventricular septal defect, Webbed neck, Facial hypotonia... ORPHA:85194
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Sy... ORPHA:284169
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Cholestatic liver disease, Right ventricular hypertrophy, Ven... OMIM:613404
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle hypertrophy, Arrhythmia, Skeletal muscle atrophy, Myopathy, ... ORPHA:682
Microscopic Polyangiitis
Pancreatitis, Peritonitis, Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epi... ORPHA:727
Pediatric-Onset Graves Disease
Hepatomegaly, Sinus tachycardia, Splenomegaly, Palpitations, Elevated hepatic transaminase, Hyper... ORPHA:525731
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Filippi Syndrome
Ventricular septal defect, Hypertrichosis, Sparse hair, Frontal hirsutism OMIM:272440
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... ORPHA:97214
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... OMIM:603387
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Camptodactyly, Right bundle branch block, Hypertrophic cardiomyopathy, Cong... OMIM:617403
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Ventricular septal defect,... OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Gastr... ORPHA:85450
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Abdom... OMIM:619123
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Dominant Beta-Thalassemia
High-output congestive heart failure, Hypoplasia of the musculature, Splenomegaly, Cirrhosis, Hep... ORPHA:231226
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Acute pancreatitis, Elevated circu... OMIM:617253
Monosomy 18Q
Absence of the pulmonary valve, Low anterior hairline, Aortic valve stenosis, Secundum atrial sep... ORPHA:1600
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Thin eyebrow, Increased nuchal translucency, Supernumerary nipple OMIM:617635
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Retinal hemorrhage, Vasculitis, Pedal edema, Periorbital edema, Pleur... ORPHA:33226
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Sparse hair, Macroglossia, Splenomegaly, Sparse eyebrow, Mitral re... OMIM:252500
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Ventricular septal defect, Hepatic fibr... OMIM:615630
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Synophrys, Transposition of... ORPHA:1913
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:618316
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618870
Costello Syndrome
Woolly hair, Macroglossia, Pulmonic stenosis, Short neck, Thickened Achilles tendon, Ventricular ... ORPHA:3071
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Mitral valve prolapse, Wrist drop, Arterial r... ORPHA:1900
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Hirsutism, Atrial septal defect, Pulmonic ... OMIM:619343
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Ventricular septal defe... OMIM:614576
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Short ne... OMIM:235255
Leigh Syndrome
Multiple joint contractures, Hypertrichosis, Alopecia, Hepatic failure, Frontal hirsutism, Ventri... ORPHA:506
Noonan Syndrome 4
Webbed neck, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Short neck, Ventricular sep... OMIM:610733
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Avian Influenza
Rhabdomyolysis, Hepatitis, Elevated hepatic transaminase, Pleural effusion, Congestive heart failure ORPHA:454836
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Increased nuchal translucency, Sparse eyebrow, Atrioventri... OMIM:605275
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Short neck, W... OMIM:121050
Beta-Thalassemia Major
High-output congestive heart failure, Hypoplasia of the musculature, Hepatomegaly, Splenomegaly, ... ORPHA:231214
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus, Low pos... OMIM:300963
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Short neck ORPHA:93267
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Spinal Arteriovenous Metameric Syndrome
Lymphangioma, Congestive heart failure ORPHA:53721
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmonic stenosis, ... OMIM:601186
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Autoimmune Hemolytic Anemia
Arrhythmia, Splenomegaly, Congestive heart failure ORPHA:98375
Erdheim-Chester Disease
Joint swelling, Abnormal pericardium morphology, Abnormal aortic valve morphology, Retroperitonea... ORPHA:35687
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Atrial septal defect, Mitral regurgitation, Short neck, Arrhythmia, Ventri... ORPHA:254346
Myopathy With Extrapyramidal Signs
Hepatomegaly, Splenomegaly, Calf muscle hypertrophy, Short neck, Ventricular septal defect, Eleva... OMIM:615673
Prune Belly Syndrome
Atrial septal defect, Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular... ORPHA:2970
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Xerostomia, Hypertensive crisis, Pulmonary arter... ORPHA:220393
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma, Chorioretinal ... OMIM:120200
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Hepatic calcification, Sudden cardiac death, Dilated cardiomyopathy, Pericardial... ORPHA:73224
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Macroglossia, Arthrogryposis-like hand anomaly, Frontal upsweep of hair, S... ORPHA:369891
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Congestive heart failure ORPHA:137608
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Alopecia ORPHA:85202
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Hepatomegaly, Tricuspid st... OMIM:231050
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, Heart murmur, Pulmonary arteria... ORPHA:3309
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Mitral regurgitation, Aortic regurgitation, Congestive heart failure OMIM:123700
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Intrinsic hand muscle atrophy, Concentric hypertrophic cardiomyopathy, Foot dorsiflexor weakness,... OMIM:302900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosu... OMIM:618142
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... OMIM:108800
Martsolf Syndrome 1
Low anterior hairline, Cardiac arrest, Cardiomyopathy, Low posterior hairline, Congestive heart f... OMIM:212720
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Nonimmune hydrops fetalis, Thin skin, Congestive heart failure OMIM:166210
Meacham Syndrome
Anomalous pulmonary venous return, Aortic valve stenosis, Atrial septal defect, Hypoplastic left ... ORPHA:3097