Gene Summary

Name:
recombination signal binding protein for immunoglobulin kappa J region
Synonyms:
CBF1,  Igkrsbp,  RBP-J kappa,  RBPjk,  Igkjrb,  Rbpsuh

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
preweaning lethality, complete penetrance Rbpjtm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating bilirubin level Rbpjtm1b(EUCOMM)Hmgu HET Early adult 4.23×10-06
increased grip strength Rbpjtm1b(EUCOMM)Hmgu HET   Early adult 2.68×10-05
decreased circulating cholesterol level Rbpjtm1b(EUCOMM)Hmgu HET   Early adult 9.17×10-05
increased heart weight Rbpjtm1b(EUCOMM)Hmgu HET Early adult 1.71×10-05
improved glucose tolerance Rbpjtm1b(EUCOMM)Hmgu HET Early adult 3.50×10-05
decreased circulating HDL cholesterol level Rbpjtm1b(EUCOMM)Hmgu HET   Early adult 2.46×10-06
decreased bone mineral density Rbpjtm1b(EUCOMM)Hmgu HET Early adult 7.52×10-05
embryonic lethality prior to tooth bud stage Rbpjtm1b(EUCOMM)Hmgu HOM   E12.5 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
Heart  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain 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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (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 Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

1 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Adams-Oliver Syndrome
Pulmonary artery atresia, Tetralogy of Fallot, Arteriovenous malformation ORPHA:974
Adams-Oliver Syndrome 3
OMIM:614814

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Alkaptonuria
Prostatitis, Abnormal heart valve morphology, Mitral valve calcification, Coronary artery calcifi... ORPHA:56
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Arterial Dissection-Lentiginosis Syndrome
Arterial dissection, Arteriovenous malformation ORPHA:1682
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Hypertrophic cardiomyopathy, Splenomegaly OMIM:613673
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Conjugated hyperbilirubinemia OMIM:619232
Parkes weber syndrome
Arteriovenous fistula OMIM:608355
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Alkaptonuria
Mitral valve calcification, Aortic valve calcification, Coronary artery calcification, Arthritis OMIM:203500
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula ORPHA:46724
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Gaucher Disease Type 3
Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Pulmonary arte... ORPHA:77261
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Short stature ORPHA:1705
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:607765
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Intrauterine growth retardation, Arteriovenous malformation, Ove... ORPHA:1110
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141179
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia OMIM:609734
Familial Parathyroid Adenoma
Mitral valve calcification, Aortic valve calcification, Polyarticular chondrocalcinosis, Left ven... ORPHA:99877
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia OMIM:615297
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141184
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Osteoporosis, Steatorrhea, Hypocholesterolemia OMIM:266510
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation ORPHA:624
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Vascular dilatation ORPHA:53719
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Increased ... OMIM:616278
Blue Rubber Bleb Nevus
Arteriovenous malformation ORPHA:1059
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Hyperbilirubinemia, Hypermethioninemia, Atrial septal defect OMIM:614300
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly ORPHA:890
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve OMIM:613355
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Hepatomegaly, Type I... OMIM:616860
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery, Venous insufficiency, Patent ductus arteriosus, Peripheral a... ORPHA:90308
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal lymphatic vessel morphology,... ORPHA:90307
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Decreased LDL choles... OMIM:618156
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Gaucher Disease
Abnormal heart valve morphology, Mitral valve calcification, Abnormal pericardium morphology, Hep... ORPHA:355
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Abnormal mitral valve morphology, Angina pectoris,... ORPHA:740
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly OMIM:618528
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Hepatomegaly, Unconjugated hyperbilirubinemia OMIM:210500
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Pelizaeus-Merzbacher Disease
Short stature, Arteriovenous malformation ORPHA:702
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Os... OMIM:606069
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Unco... ORPHA:766
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve OMIM:300049
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Cardiomegaly, Aortic... OMIM:182250
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Ventricular hypertrophy, Pericarditis, Keratocon... OMIM:617321
American Trypanosomiasis
Skin rash, Arrhythmia, Achalasia, Congestive heart failure, Encephalitis, Myocarditis, Cardiomyop... ORPHA:3386
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Immune-Mediated Necrotizing Myopathy
Palpitations, Skin rash, Congestive heart failure, Myocarditis, Myositis, Raynaud phenomenon ORPHA:206569
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pulmona... ORPHA:2072
Mucopolysaccharidosis Type 7
Umbilical hernia, Arteriovenous malformation ORPHA:584
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Splenomegaly, Hepatome... OMIM:618892
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Melorheostosis
Peripheral arteriovenous fistula ORPHA:2485
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:612526
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arteriovenous malformation ORPHA:60040
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification ORPHA:95717
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Adams-Oliver Syndrome
Pulmonary artery atresia, Tetralogy of Fallot, Arteriovenous malformation ORPHA:974
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentratio... OMIM:614886
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malfo... ORPHA:1556
Glycogen Storage Disease Vii
Increased total bilirubin, Gout, Hyperuricemia OMIM:232800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Transposition of the great arteries, Bicuspid aortic valve OMIM:612474
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Glomuvenous Malformation
Venous malformation, Gastrointestinal arteriovenous malformation, Arteriovenous malformation ORPHA:83454
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Right ventricular hypertrophy,... OMIM:613404
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal mitral valve morphology, Chondroc... ORPHA:732
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis ORPHA:85414
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Nephronophthisis 16
Pulmonic stenosis, Aortic valve stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Posterior cerebral artery stenosis, Coronary artery atherosclerosis, Cy... OMIM:132900
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Hypotension, Pancreatitis, Myocarditis ORPHA:188
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral art... ORPHA:137667
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Conjugated h... OMIM:208085
Scrub Typhus
Skin rash, Hypotension, Encephalitis, Anterior uveitis, Myocarditis ORPHA:83317
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Abnormal pericardium morphology, Recurr... ORPHA:183
Atypical Werner Syndrome
Chondrocalcinosis, Subcutaneous calcification, Hypertension, Telangiectasia of the skin, Aortic v... ORPHA:79474
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Malar rash, Serositis, Prolonged QTc interval ORPHA:231111
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:259720
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Enlarged kidney, Nonketotic hypoglyc... OMIM:608836
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Patent ductus arteriosus ORPHA:1321
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Hepatomegaly, Hypoalbuminemia, Splenomegaly OMIM:251880
Wolcott-Rallison Syndrome
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double outlet right ventric... ORPHA:1667
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Telangiectasia of the skin, Keratoconjunctivitis sicca, Myocardi... ORPHA:81
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Fanconi Anemia
Spina bifida, Abnormal carotid artery morphology, Abnormal aortic morphology, Growth delay, Paten... ORPHA:84
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect, Hypocholesterolemia OMIM:610883
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Abnormal heart valve morphology, Pulmonary embo... ORPHA:464343
Adult-Onset Still Disease
Skin rash, Pericarditis, Hepatitis, Myocarditis, Arthritis ORPHA:829
Thymic Tumor
Pericarditis, Cardiac arrest ORPHA:100100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Hypermanganesemia With Dystonia 1
Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermangan... OMIM:613280
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Short stature OMIM:249670
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Patent ductus arteriosus OMIM:211930
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Pneumonia, Septic arthritis, Ectopic calcificat... ORPHA:449280
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve OMIM:614823
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Aortic aneurysm, Arteriovenous malformation ORPHA:109
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Recurrent hypoglycemia, Impaired gluconeo... OMIM:212140
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Hepatomegaly, Neonatal ... ORPHA:348
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Hepatitis, Encephalitis, Pancreatitis, Myoca... ORPHA:549
Thymoma
Skin rash, Pericarditis, Thyroiditis, Keratoconjunctivitis sicca, Myocarditis, Myositis, Arthritis ORPHA:99867
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Delayed proximal femoral e... ORPHA:95716
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Large vessel vasculitis, Abnormal endoc... ORPHA:728
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Glucose intolerance, Hepatomegaly, Di... OMIM:235200
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypotension, Pneumonia, Septic arthritis, Sinusitis, Glomerulonephritis, ... ORPHA:36234
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Ost... ORPHA:232
Scleroderma
Osteomyelitis, Intestinal bleeding, Pericarditis, Right ventricular failure, Myelitis, Interstiti... ORPHA:801
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia OMIM:619075
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:619149
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-gl... ORPHA:3008
Congenital Enterovirus Infection
Skin rash, Hypotension, Pericardial effusion, Hepatitis, Encephalitis, Myocarditis, Cardiomyopathy ORPHA:292
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morphology, Tricus... ORPHA:1120
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Type I diabet... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Estrogen Resistance
Glucose intolerance, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Uveitis, Myocardial infarction, Encephali... ORPHA:3452
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia, Hepatomegaly, Gout, Splenomegaly ORPHA:822
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom... OMIM:618838
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulatin... OMIM:600649
Hyperlipoproteinemia, Type V
Increased VLDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circ... OMIM:144650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis,... ORPHA:284169
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, S... OMIM:239711
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Flexion contracture, Hypocholesterolemia, Hepatomegaly, Hypoalbuminemia, Os... OMIM:212065
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Blau Syndrome
Pericarditis, Iritis, Uveitis, Synovitis, Hypertension, Nongranulomatous uveitis, Eczema, Erythem... OMIM:186580
Hereditary Hemorrhagic Telangiectasia
Peripheral arteriovenous fistula, Arteriovenous malformation ORPHA:774
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concen... OMIM:255120
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula OMIM:149000
Graft Versus Host Disease
Hyperbilirubinemia, Stiff interphalangeal joints, Limited shoulder movement, Dupuytren contractur... ORPHA:39812
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Gastrointestinal hemorrhage, Keratoconjunctivitis sicca, Gastritis, Myoc... ORPHA:809
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Felty Syndrome
Pericarditis, Chronic otitis media, Synovitis, Sinusitis, Episcleritis, Rhinitis, Recurrent pneum... ORPHA:47612
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Cholecystitis, Pericardial effusion,... ORPHA:781
Hardikar Syndrome
Ventricular septal defect, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Patent foramen ovale OMIM:612726
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia OMIM:615710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Abnormal heart morphology, Ventricular septal defect, Recurrent otitis media... ORPHA:500159
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Fanconi Anemia, Complementation Group U
Growth delay, Patent ductus arteriosus OMIM:617247
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, Hypertrophi... OMIM:615415
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Classic Homocystinuria
Arteriovenous malformation ORPHA:394
Superficial Siderosis
Abnormal vertebral artery morphology, Arteriovenous malformation ORPHA:247245
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Hennekam Syndrome
Mild postnatal growth retardation, Pulmonary lymphangiectasia, Arteriovenous malformation ORPHA:2136
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hypertriglyceridemia, Left ventricular hypertrophy... ORPHA:31150
Kawasaki Disease
Skin rash, Arrhythmia, Pericarditis, Abnormal heart valve morphology, Cholecystitis, Cheilitis, C... ORPHA:2331
Grange Syndrome
Renovascular hypertension, Coronary artery stenosis, Bicuspid aortic valve OMIM:602531
Systemic Sclerosis
Osteomyelitis, Intestinal bleeding, Pericarditis, Right ventricular failure, Nail bed telangiecta... ORPHA:90291
Juvenile Dermatomyositis
Skin rash, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pec... ORPHA:93672
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splen... ORPHA:567983
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Reynolds Syndrome
Hyperbilirubinemia, Steatorrhea, Hepatomegaly, Calcinosis, Splenomegaly OMIM:613471
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Uveitis, Orchitis, Conjunctivitis, Erysipelas, Myositis, Fa... ORPHA:32960
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:300908
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypoglycemia, Hepatomegaly, ... OMIM:229600
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Spinal... OMIM:610655
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Abnormal heart morphology, Osteolysis involving bones of the upper limbs, Hyperbiliru... ORPHA:464321
Autoimmune Hepatitis
Increased total bilirubin, Arthritis, Splenomegaly ORPHA:2137
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral... OMIM:601005
Von Willebrand Disease, Type 1
Joint hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Aortic valve stenosis, Mitral valve pro... OMIM:193400
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Cholang... ORPHA:2552
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Proportionate short stature OMIM:617044
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Lathosterolosis
Osteoporosis, Hyperbilirubinemia, Pathologic fracture, Hepatosplenomegaly, Abnormal circulating c... OMIM:607330
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral ischemia, ... ORPHA:117
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia, Dela... ORPHA:90674
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Aortic Aneurysm, Familial Thoracic 10
Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... ORPHA:90673
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Abnormal car... ORPHA:2306
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Aortic regurgitation, Conjunctivitis,... ORPHA:29207
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Congestive heart failure, Constrictive pericarditis, Abnormal pericardium morphology ORPHA:67
Shigellosis
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Hypovolemic s... ORPHA:810
Juvenile Polyposis Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Growth delay, Arterioven... ORPHA:2929
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Osteoporosis, Abnormality of iron homeostasis, Stif... ORPHA:465508
Primary Biliary Cholangitis
Osteoporosis, Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentr... ORPHA:186
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Hypertension, Aorti... ORPHA:363618
Arterial Tortuosity Syndrome
Esophagitis, Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart fa... ORPHA:3342
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Giant Cell Arteritis
Arrhythmia, Pericarditis, Epistaxis, Sudden cardiac death, Double outlet right ventricle with sub... ORPHA:397
Listeriosis
Peritonitis, Pustule, Arteritis, Pericarditis, Endocarditis, Pyelonephritis, Cholecystitis, Pneum... ORPHA:533
Familial Mediterranean Fever
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Orchitis, Myocardial infarction, Erysipelas, Pa... ORPHA:342
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Arrhythmia, Myocarditis ORPHA:93317
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Hyperbilirubinemia, Hyperextensibi... ORPHA:163979
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Hepatomegaly, Hypokalemia, Hypercalcemia, Hypoalb... ORPHA:88673
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Proteus Syndrome
Sirenomelia, Arteriovenous malformation ORPHA:744
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Arterial stenosis, Vascular dilatation, Arterial dissection, Umbilical her... ORPHA:286
Cranioectodermal Dysplasia 2
Atrial septal defect, Craniosynostosis, Joint laxity, Hyperbilirubinemia, Hepatomegaly, Left vent... OMIM:613610
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:900
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Umbilical hernia, Arterial dissection, Dilatation of the cerebral artery, ... ORPHA:287
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Dermatomyositis
Arrhythmia, Pericarditis, Chondrocalcinosis, Sinus tachycardia, Telangiectasia of the skin, Myoca... ORPHA:221
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Atrial septal defect, Hypocholesterolemia OMIM:244450
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Brucellosis
Epididymitis, Arteritis, Pericarditis, Endocarditis, Hip osteoarthritis, Orchitis, Pneumonia, Sep... ORPHA:1304
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mi... OMIM:121050
Zygomycosis
Peritonitis, Pustule, Nephritis, Endocarditis, Pericarditis, Gastrointestinal hemorrhage, Hematem... ORPHA:73263
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve ORPHA:329224
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circula... OMIM:201475
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia, Glycosuria OMIM:210550
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Left vent... OMIM:619167
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Pulmonary Arteriovenous Malformation
Pulmonary arteriovenous fistulas ORPHA:2038
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Angioosteohypertrophic Syndrome
Venous insufficiency, Peripheral arteriovenous fistula ORPHA:2346
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin... ORPHA:79277
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal superior vena cava morphology, Truncus arteriosus, ... ORPHA:3384
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Caroli Syndrome
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Isolated Biliary Atresia
Hepatomegaly, Xanthelasma, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Erysipelas, Crohn's disease, Arthritis OMIM:249100
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:53035
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypertension, Pulmonic stenosis, Aortic valve st... OMIM:100300
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus ORPHA:1338
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neonatal hyperbilirubinemia, Double outlet right ventricle, Mitral ste... ORPHA:163956
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Aortic valve stenosis, Allergic rhinitis, Bicuspid aortic valve OMIM:176690
Coccidioidomycosis
Peritonitis, Skin rash, Folliculitis, Morbilliform rash, Pericarditis, Panniculitis, Pneumonia, V... ORPHA:228123
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Kleefstra Syndrome
Arrhythmia, Ventricular septal defect, Chronic otitis media, Bicuspid aortic valve, Tetralogy of ... ORPHA:261494
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal arteriovenous malformation, Cerebral arteriovenous malformation, Hepatic arterio... OMIM:187300
Loeys-Dietz Syndrome 4
Mitral valve prolapse, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus OMIM:614816
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Premature osteoarthritis, Bicuspid aortic valve, Mitral valve... OMIM:611962
Leptospirosis
Pulmonary hemorrhage, Skin rash, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhag... ORPHA:509
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, Ventricular septal defect,... ORPHA:84064
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Atrial septal defect, Ventricular septal defect, Elevated 7-dehydrocholeste... OMIM:270400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Pericarditis, Interstitial pneumonitis, Lymphadenitis, Urinary bladder in... ORPHA:449395
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Mitral regurgitation, Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta, Anomalous... OMIM:606519
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypertensive crisis, Pneumonia, Septic arthritis, Hypertension, Pancreatitis, Myoc... ORPHA:544482
Blau Syndrome
Skin rash, Iridocyclitis, Pericarditis, Large vessel vasculitis, Retrobulbar optic neuritis, Syno... ORPHA:90340
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Bicuspid aortic valve, Eczema OMIM:610443
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve OMIM:610759
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... ORPHA:185
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve OMIM:300707
Spondylometaphyseal Dysplasia, Sedaghatian Type