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Gene: Vcan MGI:102889

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Gene Summary

Name:
versican
Synonyms:
DPEAAE,  PG-M,  5430420N07Rik,  Cspg2,  hdf,  heart defect

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Vcanem2(IMPC)Mbp HET E15.5 0.00
abnormal visceral yolk sac morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Vcanem2(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
eye hemorrhage Vcanem2(IMPC)Mbp HET Early adult 6.40×10-06
abnormal embryo turning Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal spleen morphology Vcanem2(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Vcanem2(IMPC)Mbp HET E9.5 0.00
abnormal neural tube morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal somite shape Vcanem2(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Vcanem2(IMPC)Mbp HOM   E15.5 0.00
enlarged spleen Vcanem2(IMPC)Mbp HET Early adult 0.00
abnormal heart looping Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Vcanem2(IMPC)Mbp HOM E9.5 0.00
microphthalmia Vcanem2(IMPC)Mbp HET E15.5 0.00
abnormal optic vesicle formation Vcanem2(IMPC)Mbp HOM E9.5 0.00
abnormal eye morphology Vcanem2(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Vcanem2(IMPC)Mbp HOM E9.5 0.00
persistence of hyaloid vascular system Vcanem2(IMPC)Mbp HET Early adult 6.07×10-08

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lacZ Expression

Expression data not available

Associated Images

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

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MicroCT E9.5

Embryo reconstruction

8 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Retinal pigment epithelial atrophy OMIM:143200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Tricuspid Atresia
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... ORPHA:1209
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right-to-left ... ORPHA:439
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... OMIM:615779
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... ORPHA:860
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... OMIM:619371
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal bleeding, Splenomegaly ORPHA:231393
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Gray Platelet Syndrome
Bruising susceptibility, Thrombocytopenia, Abnormal bleeding, Epistaxis, Splenomegaly ORPHA:721
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... OMIM:619897
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Intrauterine growth retardation, Ventricular septal defect ORPHA:1937
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Epidural hemorrhage, Bruising susceptibility, Enlarged kidney, Abnormal splee... ORPHA:464329
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... OMIM:607941
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Microphthalmia, Ventricular septal defect OMIM:615297
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Supravalvular aortic stenosis, Abnormal mitral valv... ORPHA:1461
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Death in infancy, Ventricular septal defect OMIM:614876
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... OMIM:614980
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement OMIM:612422
Cardiac Valvular Dysplasia 2
Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmonic stenosis, Dysplastic aort... OMIM:620067
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Verheij Syndrome
Ventricular septal defect, Short neck, Intrauterine growth retardation, Short stature, Branchial ... OMIM:615583
Congenital Heart Defects, Multiple Types, 5
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia OMIM:602079
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Nanophthalmos
Microphthalmia ORPHA:35612
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Biventricular hypertrophy... OMIM:619424
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Nanophthalmos 4
Microphthalmia OMIM:615972
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Posterior retinal... OMIM:193235
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death in infan... ORPHA:1354
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Complete atrioventricular canal defect, Cyanosis, Abnormal EKG, Th... ORPHA:1329
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Bruising susceptibility, Hemolytic anemia, Reduced platelet alpha granules, Incr... OMIM:314050
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Chylopericardium, Tricuspid regurgitation, Co... ORPHA:2414
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hyp... ORPHA:555874
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Splenomegaly OMIM:607685
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... OMIM:614096
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Short stature, Branchial anomaly, Webbed neck ORPHA:1131
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch blo... ORPHA:99827
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Syncope, Palpita... ORPHA:99104
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect OMIM:614474
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Cyanosis, Atrial fibrillation, Pulmonary arterial hypertension, Third he... ORPHA:99106
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation, Patent ductus... OMIM:616276
Polycythemia Vera
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... ORPHA:231401
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:615524
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Perching Syndrome
Cyanosis OMIM:617055
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Idiopathic Aplastic Anemia
Gingival bleeding, Anemia, Bone marrow hypocellularity, Neutropenia, Reticulocytopenia, Ecchymosi... ORPHA:88
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Glial remnants anterior t... ORPHA:91495
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Cervical lymphadenopathy, Subconjunctival hemorrhage, Thrombocytopenia,... OMIM:617718
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... ORPHA:444013
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
Adams-Oliver Syndrome 5
Pulmonic stenosis, Umbilical hernia, Right atrial enlargement, Right ventricular hypertrophy, Pat... OMIM:616028
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Grange Syndrome
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment OMIM:601813
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Abnormality o... ORPHA:464321
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... OMIM:619313
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Macular degeneration, Geographic atrophy OMIM:603075
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Cardiac Valvular Dysplasia 1
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu... OMIM:212093
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplasia of right ventricle, Atrial septal defect, Total ... OMIM:616749
Hemochromatosis, Type 2B
Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Congestive heart failure, Sple... OMIM:613313
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Ecchymosis, Portal hypertension, Thrombocytopenia, Nodula... OMIM:619463
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... ORPHA:3426
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Neonatal death OMIM:601612
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... OMIM:108900
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Deat... OMIM:617478
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Eales Disease
Rhegmatogenous retinal detachment, Peripheral retinal neovascularization, Ischemic stroke, Optic ... ORPHA:40923
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, Myofiber d... OMIM:115197
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453499
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased red blood cell mass, Hypertension, Splenomegaly, Increased hematoc... OMIM:133100
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Fish-Eye Disease
Lymphadenopathy, Angina pectoris, Hepatomegaly, Splenomegaly ORPHA:79292
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Bacterial endocarditis, Palpitations, Isch... ORPHA:2038
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy OMIM:616277
Congenital Fibrinogen Deficiency
Bruising susceptibility, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal he... ORPHA:335
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Hypotension, Fulminant hepatitis, Lymphopenia, Ecchymosis,... ORPHA:319213
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen content, ... OMIM:261740
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Atrial septal... ORPHA:99050
Acquired Methemoglobinemia
Syncope, Palpitations, Hypoxemia, Arrhythmia, Cyanosis, Tachycardia ORPHA:464453
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Ventricular septal defect OMIM:613730
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Asbestos Intoxication
Hypoxemia, Hepatojugular reflux, Cor pulmonale, Right ventricular failure, Myocardial fibrosis, C... ORPHA:2302
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... ORPHA:980
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Congestive heart failure, Dilated cardiomyop... OMIM:602390
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Tractional retinal detachment,... ORPHA:891
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Hypoxemia, Bradycardia, Cyanosis, Tachycardia ORPHA:70587
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... ORPHA:3304
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Petechiae, Abnormal bleeding, Mediastinal... ORPHA:158029
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Mitral regurgitation, Ventricular septal defect ORPHA:83473
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Hypotension, Anemia, Palpitations, Intracranial hemorrhage, Hypertension, Capillary... ORPHA:340
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Thrombocytopenia, Petechiae, Optic atro... OMIM:611490
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Hyphema OMIM:221900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Vitreoretinochoroidopathy
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization, Pigmentary retinopathy OMIM:193220
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Amyloidosis, Familial Visceral
Cholestasis, Hypertension, Hepatomegaly, Splenomegaly OMIM:105200
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Exudative Vitreoretinopathy 1
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Bardet-Biedl Syndrome 19
Atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect OMIM:615996
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst, Short stature ORPHA:50815
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Abnormal bleeding, Bradycardia, Prolonged prothrombin time... ORPHA:99826
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... ORPHA:49827
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot,... OMIM:613854
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Leptospirosis
Jaundice, Hypotension, Arrhythmia, Papilledema, Hepatomegaly, First degree atrioventricular block... ORPHA:509
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly OMIM:620010
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Hepatoportal Sclerosis
Hepatocellular carcinoma, Prolonged prothrombin time, Abnormality of the hepatic vasculature, Jau... ORPHA:64743
Gaucher Disease, Type I
Pulmonary arterial hypertension, Macular atrophy, Mitral regurgitation, Anemia, Hypertension, Hep... OMIM:230800
Gray Platelet Syndrome
Bruising susceptibility, Abnormal bleeding, Thrombocytopenia, Menorrhagia, Epistaxis, Prolonged b... OMIM:139090
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... OMIM:108800
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614262
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Hypoxemia, Intrauterine growth retardation, Cyanosis ORPHA:2257
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibility, Hemolytic... OMIM:153670
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Eisenmenger Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... ORPHA:97214
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia, Atrial septal defect OMIM:300887
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral valve prolapse, Bicuspid aortic valve, Patent ductus arteriosus, Right atrial enlargement ORPHA:555877
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Microphthalmia, Pericardial effusion, Anophthalmia OMIM:613885
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment ORPHA:39044
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Cyclopia, Iris coloboma, V... ORPHA:2162
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Juvenile Xanthogranuloma
Myeloproliferative disorder, Hyphema ORPHA:158000
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly ORPHA:163596
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... ORPHA:2326
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly OMIM:615085
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bruising susceptibility, Bone marrow hypocellularity, ... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Ecchymosis,... ORPHA:824
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Leukemia, Retinal calcification, Abnormality of retinal... ORPHA:790
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Adams-Oliver Syndrome 6
Ventricular septal defect, Tricuspid regurgitation, Portal hypertension, Cutis marmorata, Truncus... OMIM:616589
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpitations, Bone marrow... ORPHA:86839
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... OMIM:601859
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
16P13.11 Microduplication Syndrome
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... ORPHA:261243
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Heart murmur, Abnormal heart morphology ORPHA:1867
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect OMIM:614435
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia, Patent foramen ovale, Cardiomegaly OMIM:618652
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... ORPHA:99094
Schnitzler Syndrome
Vasculitis, Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... ORPHA:137675
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Left atrial enlargement, Left ventricular hypertrophy ORPHA:57777
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Polycythemia Vera
Gingival bleeding, Bruising susceptibility, Hypertension, Pulmonary embolism, Intermittent claudi... ORPHA:729
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension, Death in infancy, Neonatal death OMIM:265120
Truncus Arteriosus
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... ORPHA:3384
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst ORPHA:2260
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Unilateral microphthalmos, Optic disc hypoplasia, Optic nerve hyp... ORPHA:137902
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele OMIM:164180
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Atrioventricular canal d... OMIM:306955
Waldenström Macroglobulinemia
Vasculitis, Gingival bleeding, Normocytic anemia, Abnormality of neutrophils, Leukemia, Hepatomeg... ORPHA:33226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly... ORPHA:79312
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... OMIM:603909
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Myelofibrosis
Purpura, Myeloproliferative disorder, Splenomegaly OMIM:254450
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Central Retinal Vein Occlusion
Papilledema, Macular degeneration, Pigmentary retinopathy, Intraretinal hemorrhage, Retinal neova... ORPHA:411527
Cofs Syndrome
Microphthalmia ORPHA:1466
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Supraventricular arrhythmia, Lacunar stroke, Retinal hemorrhage OMIM:611773
Congenital Toxoplasmosis
Cardiomegaly, Microphthalmia ORPHA:858
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... OMIM:612561
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Microphthalmia OMIM:613155
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... ORPHA:183
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... OMIM:185000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:352665
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Hypoxemia, Elevated pulmonary artery pressure, Pericardial effusion,... ORPHA:199241
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,... ORPHA:79477
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Cardiac Diverticulum
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:1686
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Hypotension, Arrhythmia, Cardiomyopathy, Cyanosis ORPHA:159
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Hypertension, Patent ductus arteriosus, Tachycardia OMIM:613870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy OMIM:249270
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Pseudoxanthoma Elasticum
Macular degeneration, Hypertension, Intermittent claudication, Weak pulse, Angina pectoris, Restr... OMIM:264800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Hemolytic anemia, Aplastic anemia, Heart bl... ORPHA:398124
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... ORPHA:261330
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Noonan Syndrome 8
Mitral regurgitation, Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular septal defect, Atri... OMIM:615355
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypert... ORPHA:848
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Tetra... OMIM:220210
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Granular macular appearan... ORPHA:75376
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect ORPHA:1455
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Paten... ORPHA:290
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
17Q12 Microduplication Syndrome
Microphthalmia, Atrial septal defect ORPHA:261272
Bor Syndrome
Branchial cyst ORPHA:107
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect OMIM:602501
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis ORPHA:75234
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intrauterine growth retarda... ORPHA:1913
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Atelis Syndrome 2
Pulmonic stenosis, Anemia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Thrombocytopenia,... OMIM:620185
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis, Hypertension, Pericardial effusion ORPHA:79126
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Typhoid
Cardiac arrest, Arrhythmia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Splenomegaly ORPHA:99745
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect ORPHA:896
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:615279
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy OMIM:618805
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Intrauterine growth retardation ORPHA:284417
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Telangiectasia, Gastrointestinal hemorrhage, Micronodular cirrhosis, Vasculit... OMIM:192315
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Acquired Purpura Fulminans
Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Acrocyanosis ORPHA:49566
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Cryoglobulinemic Vasculitis
Vasculitis, Abnormality of the liver, Viral hepatitis, Hepatomegaly, Purpura, Gastrointestinal he... ORPHA:91138
Fetal Gaucher Disease
Intracranial hemorrhage, Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen,... ORPHA:85212
Meckel Syndrome, Type 4
Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Microphthalmia, Anen... OMIM:611134
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... ORPHA:392
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Essential Thrombocythemia
Transient ischemic attack, Acute leukemia, Myocardial infarction, Abnormal platelet morphology, P... ORPHA:3318
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Ductal bile plugs, Hematochezia, Jaundice, Intrahepatic cholestasis, ... OMIM:613812
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Meacham Syndrome
Death in childhood, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fall... OMIM:608978
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse, Low posterior hairline, Branc... ORPHA:261337
Autoimmune Hemolytic Anemia
Hemolytic anemia, Arrhythmia, Congestive heart failure, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Pierpont Syndrome
Microphthalmia ORPHA:487825
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Ventricular septal defect, Intrauterine growth retardation, Patent ductus art... OMIM:612938
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopeni... OMIM:308240
Restrictive Dermopathy 2
Cyanosis, Intrauterine growth retardation OMIM:619793
Budd-Chiari Syndrome
Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Gastrointestinal hemorrhage,... ORPHA:131
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... OMIM:613751
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... OMIM:150550
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis OMIM:602473
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Pierpont Syndrome
Microphthalmia OMIM:602342
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia, Tetralogy of Fallot OMIM:136760
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... OMIM:615234
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Acrocyanosis OMIM:614407
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double o... OMIM:179613
Hartsfield Syndrome
Encephalocele, Microphthalmia ORPHA:2117
Hemochromatosis, Type 1
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Telangiectasia, Co... OMIM:235200
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... ORPHA:99125
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmi