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Gene: Anks6 MGI:1922941

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Gene Summary

Name:
ankyrin repeat and sterile alpha motif domain containing 6
Synonyms:
b2b1801.1Clo,  SamCystin,  LOC269533,  2210417J20Rik,  Samd6

Order Alleles

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
preweaning lethality, complete penetrance Anks6tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
eye 0.0%
gall bladder 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
peripheral nervous system 0.17% (1 of 584)
peyer's patch 0.59% (1 of 169)
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
uterus 0.35% (2 of 571)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Anks6tm1b(KOMP)Wtsi
HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
HET, Female, WTSI

View all 70 images

Anks6tm1b(KOMP)Wtsi
hindlimb, polysyndactyly, HET, Male, WTSI
Anks6tm1b(KOMP)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
TS20 heart, HET, Male, WTSI
Anks6tm1b(KOMP)Wtsi
TS20 eye, HET, Male, WTSI
Anks6tm1b(KOMP)Wtsi
TS20 liver, HET, Female, WTSI
Anks6tm1b(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI

Human diseases caused by Anks6 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 Anks6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382

The table below shows human diseases predicted to be associated to Anks6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava ... OMIM:613759
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... ORPHA:3032
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel... ORPHA:369
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomeg... OMIM:618955
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent upper respiratory tract i... OMIM:618699
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... ORPHA:1666
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis OMIM:176090
Glycogen Storage Disease Iii
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... OMIM:232400
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis ORPHA:446
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Meningocele, Bile duct proliferation OMIM:611134
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibrosis, Horsesho... OMIM:612284
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta OMIM:616145
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Death in infan... OMIM:201475
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... OMIM:616589
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Periportal fibrosis OMIM:213010
Coach Syndrome 2
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibro... OMIM:619111
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Familial Visceral Myopathy
Hydroureter, Abdominal situs inversus, Hyperparathyroidism, Vesicoureteral reflux, Megacystis ORPHA:2604
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of respi... OMIM:613807
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoacidur... OMIM:231680
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia OMIM:613686
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... ORPHA:3156
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a... OMIM:603471
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Hepatic ... OMIM:619858
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... OMIM:216360
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki... OMIM:616629
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... OMIM:301068
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir... ORPHA:30391
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... OMIM:606003
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Hepatic foam cells, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Cirrhosis, Death in childhood, Renal cyst, Hepatic fibrosis, Proxi... OMIM:602579
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the kidney, Abnormality ... ORPHA:280
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Hep... OMIM:208500
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Meningocele OMIM:603194
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Elevated hepatic transamina... ORPHA:79230
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia OMIM:615067
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... ORPHA:370
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly ORPHA:1759
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... OMIM:610205
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Coarctation... ORPHA:3426
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Spontaneo... ORPHA:731
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Patent ductus arteriosus, Perimembranous ven... OMIM:608104
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Vascul... ORPHA:2924
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... ORPHA:480520
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... OMIM:618329
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr... ORPHA:2377
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice ORPHA:79234
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Ethylmalonic aciduria, 3-Methylglutaric aciduria, Acute p... ORPHA:26791
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... OMIM:604387
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect OMIM:617877
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Death in childhood, Cholestasis, Elevated hepa... OMIM:618641
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth OMIM:263630
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Polycystic kidney dysplasia, Pulmonary hypoplasia, A... OMIM:263210
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Pulmonary cyst, Multiple... ORPHA:400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia OMIM:616037
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Myoglobinuria, Elevated hepatic transaminase, Dicarboxylic aciduria, Dilat... ORPHA:71212
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Jaundice ORPHA:1296
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... OMIM:619534
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... OMIM:619487
Mirizzi Syndrome
Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... ORPHA:521219
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Cholestasis, Hepato... ORPHA:264580
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... OMIM:613550
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... ORPHA:562639
Mpi-Cdg
Decreased liver function, Hepatic fibrosis, Hepatomegaly, Portal hypertension ORPHA:79319
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... ORPHA:363444
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
Lambert Syndrome
Hypospadias, Jaundice, Intrahepatic biliary atresia OMIM:245550
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Poland Syndrome
Dextrocardia OMIM:173800
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Interstitial Lung And Liver Disease
Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotran... OMIM:615486
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Vascular dilatation OMIM:614859
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Death in childhood, Neonatal death, Cholestasis, Hepatic fibrosis, Death in infancy OMIM:609313
Hallermann-Streiff Syndrome
Cryptorchidism, Abdominal situs inversus ORPHA:2108
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, ... ORPHA:84064
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Duplicated colle... ORPHA:541423
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Tetralogy of Fallot, Absent gallbladder, Abnormal localization of kidne... ORPHA:3186
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Decreased liver function, Patent ductus arteriosus OMIM:617021
Mirror Movements 3
Situs inversus totalis OMIM:616059
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:614377
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycystic kidney dysp... OMIM:610199
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Death in childhood, Stroke-like episode, Elevated hepatic trans... OMIM:212065
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Cranioectodermal Dysplasia 2
Hepatomegaly, Atrial septal defect, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elev... OMIM:613610
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Renpenning Syndrome
Hypospadias, Decreased testicular size, Heterotaxy ORPHA:3242
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hepatic fibrosis, Renal hypoplasia, Pulmona... OMIM:614091
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Dilated cardiomyopathy, H... OMIM:615895
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, Bile duct pro... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria OMIM:601539
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Donohue Syndrome
Ovarian cyst, Cholestasis, Long penis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis OMIM:246200
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619481
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Recurrent respiratory in... OMIM:618278
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Accessory spleen, Hepatopulmonary... OMIM:618280
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hepatic fibrosis, ... OMIM:619377
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pul... OMIM:200995
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Meckel Syndrome 14
Single ventricle, Polycystic kidney dysplasia, Hepatic fibrosis, Pulmonary hypoplasia, Pneumothorax OMIM:619879
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Cryptorchidism, Stage ... OMIM:613390
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Pulmonic stenosis, Splenomegaly, Cirrhosis, Hypospadias, Tetralogy... OMIM:222470
Primary Biliary Cholangitis
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte... ORPHA:186
Porphyria Cutanea Tarda
Porphyrinuria, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma,... ORPHA:101330
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular s... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... OMIM:619525
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... OMIM:300972
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... OMIM:615993
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit... ORPHA:1414
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Perimembranous ventric... OMIM:158170
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele, Congenital hepatic fibrosis ORPHA:2031
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Splenomegaly, Renal agenesis, Abnormality of the ureter, Acce... OMIM:249000
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Hepatic fibrosis, Pulmonary fibrosis, Urethral stricture OMIM:613989
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi... ORPHA:1454
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Transketolase Deficiency
Hepatomegaly, Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in... ORPHA:488618
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Primary Pulmonary Hypoplasia
Dextrocardia, Secundum atrial septal defect, Abnormal pulmonary artery morphology ORPHA:2257
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:1166
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal defect, Hepatitis, Abnormality o... ORPHA:436252
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormality of the liver ORPHA:234
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Dpm1-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Splenomegaly OMIM:224100
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic tr... ORPHA:79303
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Hypertrophic cardiomyopathy ORPHA:848
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Arteriovenous malformation, Cirrhosis, Tetralogy of Fallot, ... ORPHA:974
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Venous insufficiency, Elevated h... ORPHA:88673
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung, Nodular goiter, Abnormal liv... ORPHA:1332
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Rena... OMIM:614866
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... ORPHA:79240
Dominant Beta-Thalassemia
Hypoparathyroidism, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatos... ORPHA:231226
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia, Coronary artery fist... OMIM:614294
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus OMIM:228940
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Renal tubular acidosis, Ri... OMIM:208085
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Micropenis, Pancreatic fibrosis, Ventricular septal defect, Polycystic kidn... OMIM:263520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Micropenis, Pancreatic hypoplasia, Pulmonary hypoplasia, Biliary hy... ORPHA:83617
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... ORPHA:247585
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Farber Disease
Cherry red spot of the macula, Hepatic failure, Nodular pattern on pulmonary HRCT, Hepatosplenome... ORPHA:333
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic... OMIM:600666
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, D... ORPHA:904
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... ORPHA:231214
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy OMIM:309801
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... OMIM:608776
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Pulmonary cyst, Abnormal pericardium... ORPHA:284
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Macrovesicular hepatic steatosis, Cholestasis, Accelerated atheros... ORPHA:209902
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Alpha-Thalassemia
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... OMIM:601005
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Recurrent urinary tract infections, Cholestasis, Abnormal pu... OMIM:613658
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... ORPHA:2970
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Stroke ORPHA:49827
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Pulmonary hypopla... ORPHA:3033
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Multiple renal cysts, Endoc... ORPHA:99776
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Hypoplasia of the thymus, Death in childhood, Intrahepatic biliary d... OMIM:214110
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Patent ductus arteri... ORPHA:290
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Abnormality of the... ORPHA:2075
Bardet-Biedl Syndrome 1
Micropenis, Left ventricular hypertrophy, Abnormality of the kidney, Biliary tract abnormality, H... OMIM:209900
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:616307
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Splenogonada... OMIM:156810
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Stroke, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, Car... OMIM:603903
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Malformation of the hepatic ductal plate, Micropenis OMIM:614175
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
X-Linked Lymphoproliferative Disease
Decreased liver function, Nephritis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Fulminant... ORPHA:2442
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Patent ductus arteriosus, A... ORPHA:90308
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cystic renal dysplasia, Neonatal death, Hypoplas... OMIM:269860
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, H... OMIM:614886
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Atrial septal defect, Accessory spleen, Elevated hepatic trans... OMIM:620005
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Abnormality ... ORPHA:2315
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Stroke, Precocious atherosclerosis, H... ORPHA:275761
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis ORPHA:3191
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Aortic valve calcification, Splenomegaly, Calcification o... ORPHA:2072
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Accessory spleen, Ureteral duplication, Multicystic kidney... ORPHA:564
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias, Tetralogy of ... ORPHA:1335
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... ORPHA:445038
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Coarctat... ORPHA:508498
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly, Death in infancy OMIM:614862
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Chronic kidney disease, Hepatomegaly, Hepatic failure, Stage 1 chronic kid... OMIM:218330
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Hepatic fibrosis, Pro... OMIM:311200
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Exercise-induced myoglobinuria OMIM:232800
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Heterotaxy OMIM:618846
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Pulmonary fibrosis OMIM:224230
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hematuria, Abnormal pulmonary interstitial morphology, Bil... ORPHA:77259
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Hepatosplenomegal... OMIM:266920
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology ORPHA:96092
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Biliary atres... OMIM:115470
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Alg9-Cdg
Hypoplasia of the ovary, Atrial septal defect, Periportal fibrosis, Hepatomegaly, Ureteral hypopl... ORPHA:79328
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Ventricular septal defect, Persistent left superior vena cava, Hypertrophic cardi... OMIM:618775
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice OMIM:613470
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Renal cyst, Decreased liver function, Multiple renal cysts OMIM:614883
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Vacterl/Vater Association
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... ORPHA:887
Fanconi Anemia, Complementation Group Q
Biliary atresia, Primum atrial septal defect OMIM:615272
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Pulmonary h... OMIM:608022
Diabetic Embryopathy
Abnormality of the pancreas, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1926
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Pulmonary fibrosis, Recurrent respiratory infect... ORPHA:586
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Polysplenia, Primum atrial septal defect, Situs inversus t... OMIM:619608
Acute Liver Failure