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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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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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 Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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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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Eye Morphology

Images Ophthalmoscopy

1 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
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Patent d... 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
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Patent d... OMIM:615382
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Truncus arteriosus, Hepatic fi... OMIM:615415
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... OMIM:306955
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... OMIM:605376
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Situs inversus totalis,... OMIM:267010
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
Fadd-Related Immunodeficiency
Decreased liver function, Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma... ORPHA:3032
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... OMIM:208540
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ascending tubular aorta aneurysm, Ventricular septal defect, Abdominal situs invers... OMIM:270100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic g... ORPHA:369
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic... OMIM:618955
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation... OMIM:607361
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato... OMIM:618699
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Asplenia, Atrioventricular canal defect, Pul... OMIM:619123
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... OMIM:231100
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Cirrhosis, Elevated hepatic transam... OMIM:613313
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Abnormality of the ... ORPHA:1666
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis OMIM:176090
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease, Pulmonary hypoplasia OMIM:612284
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyopathy, Elevated hepatic transam... OMIM:232400
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Abnormal localization of kidney ORPHA:446
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology ORPHA:1198
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Myoglobinuria, He... OMIM:231530
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Bile duct proliferation, Renal cyst, Atrial septal defect OMIM:611134
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta OMIM:616145
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Periportal fibrosis OMIM:213010
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Cardiomegal... OMIM:201475
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Hepatic fibrosis, Portal hyperte... OMIM:616589
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hy... OMIM:619111
Familial Visceral Myopathy
Abdominal situs inversus, Megacystis, Hyperparathyroidism, Vesicoureteral reflux, Hydroureter ORPHA:2604
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... OMIM:616278
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Choles... OMIM:615630
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Absent inner dynein arms,... OMIM:613807
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis, Unilateral vertebral artery hypoplasia OMIM:613686
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly OMIM:271500
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic ki... OMIM:266920
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Double outl... ORPHA:477817
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Proximal tu... OMIM:231680
Senior-Loken Syndrome
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ... ORPHA:3156
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Meckel Syndrome, Type 2
Meningocele, Bile duct proliferation, Renal cyst OMIM:603194
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis ORPHA:280356
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ... OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Coarctation of aorta, Micronodular cir... OMIM:606003
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Pulmonary hypoplasia, Hepatic cysts, Neonatal death, Renal cyst, ... OMIM:263200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Death in infancy, Increased hepatic echogenicity, Hepatic fibrosis, Bone-marrow foa... OMIM:278000
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Wolf-Hirschhorn Syndrome
Hypospadias, Abdominal situs inversus, Abnormality of the gallbladder, Aplasia/Hypoplasia of the ... ORPHA:280
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hepatic fibrosis, Pancreatic cysts, Pulmonary hypoplasia, Bile duct proliferati... OMIM:208500
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis OMIM:618063
Hemochromatosis Type 2
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy... ORPHA:79230
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Renal t... ORPHA:370
Meckel Syndrome, Type 5
Abnormality of the urinary system, Bile duct proliferation OMIM:611561
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... OMIM:301068
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Coarcta... ORPHA:3426
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Abnormal tricuspid valve morphology ORPHA:1759
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Situs inversus totalis OMIM:615067
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... ORPHA:53035
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatic failure OMIM:602579
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Coarctation of aorta, Aortic valve stenosis OMIM:241550
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis OMIM:614679
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Vascular dilatation, Multipl... ORPHA:2924
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aortic root aneurysm, Ventricular hypertrophy, Abnormal coronary arte... ORPHA:3400
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, M... OMIM:203700
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of p... ORPHA:2377
Joubert Syndrome 9
Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:612285
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased... OMIM:618329
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Transposition of the great arteries, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:617877
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Nephronophthisis 3
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... OMIM:604387
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Abnormal heart morphology, Glutaric aciduria... ORPHA:26791
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypopla... OMIM:263210
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis OMIM:616037
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Hepatic cysts, Renal cyst, Stillbirth, Atrial septal defect OMIM:263630
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Death in child... OMIM:618641
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, Ac... OMIM:618280
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Pancreatic hypoplasia, Hy... OMIM:600001
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Abnormal aortic arch morphology, Ventricular septal defect... ORPHA:860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Hepatic necrosis, Dicarboxyli... ORPHA:71212
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis OMIM:606763
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Lambert Syndrome
Hypospadias, Ventricular septal defect, Intrahepatic biliary atresia, Cholestasis, Jaundice ORPHA:1296
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary hypoplasia, Medullary ... OMIM:619534
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Renal tubular acidosis, Polycysti... ORPHA:264580
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Dark urine, Cholesterol gallstones, Abnorm... ORPHA:521219
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Nephronophthisis 11
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613550
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... ORPHA:562639
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hepatic fibrosis, Pericardial effusion, Glomerular sclerosis, Stage 5... OMIM:619487
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Perimembranous ventricular septal defect, Patent ductus arteriosus, At... ORPHA:363444
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... OMIM:210550
Rhyns Syndrome
Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism ORPHA:140976
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hepatic fibrosis ORPHA:79319
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Poland Syndrome
Dextrocardia OMIM:173800
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... ORPHA:65682
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Pericardial effusion, Proximal tubulopathy, R... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal hypoplasia, Death in infancy, Renal dysplasia, Renal tubular acidosis, Renal ... OMIM:614922
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:615486
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia OMIM:245550
Bardet-Biedl Syndrome
Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of the ovary, Multicystic kidney dysplasia, Cryp... ORPHA:110
Short Rib-Polydactyly Syndrome
Hypospadias, Hepatic fibrosis, Situs inversus totalis, Hepatic cysts, Nephronophthisis, Abnormal ... ORPHA:1505
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormal localization of kidney, Absent gallbladder, Renal hypoplasia/aplasia, Tetralogy of Fallo... ORPHA:3186
Syndromic Diarrhea
Hepatomegaly, Renal hypoplasia, Bicuspid aortic valve, Ventricular septal defect, Hepatic fibrosi... ORPHA:84064
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Meckel Syndrome, Type 1
Abnormality of the ureter, Malformation of the hepatic ductal plate, Renal agenesis, Asplenia, Bi... OMIM:249000
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
Atrioventricular canal defect, Transposition of the great arteries, Isomerism OMIM:314390
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Pancreatic cysts, Pituitary growth ... ORPHA:730
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Duplicated collecting system, Hepatic steatosis, Hepatosplenome... ORPHA:541423
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Renal cyst, Patent ductus ar... OMIM:613610
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney OMIM:613730
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Hyperbiliverdinemia
Decreased liver function, Green urine, Cholelithiasis, Cholestasis OMIM:614156
Hepatoportal Sclerosis
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma mo... ORPHA:64743
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Chronic hepatic failure, Splenomegaly... ORPHA:171
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis OMIM:618300
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Hepatic fibrosis, Renal cyst, Polycystic kidney dysplasia, Pulmona... OMIM:614091
Renpenning Syndrome
Hypospadias, Heterotaxy, Decreased testicular size ORPHA:3242
Donohue Syndrome
Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Cholestasis, Ovarian cyst OMIM:246200
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis OMIM:601539
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Abnormality of the pancre... OMIM:222470
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Portal fibrosis, Hepatic fibros... OMIM:619377
D-Bifunctional Protein Deficiency
Hepatomegaly, Bile duct proliferation, Renal cyst, Splenomegaly, Hepatic steatosis, Cholestasis, ... OMIM:261515
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Extrapulmonary sequestrum, Pancreatic fib... OMIM:200995
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:619481
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Hepatitis,... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Ventricular septal defect, Increased hepatic echogenicity, El... OMIM:619525
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Polycystic kidney dysplasia, Renal... OMIM:173900
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... ORPHA:1454
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Meningocele, Renal cyst ORPHA:2031
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Recurrent respiratory infections, Ren... OMIM:615993
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Total anomalous pulmonary venous return, Abnormal heart morphology, Co... ORPHA:261183
Immunodeficiency 47
Hepatomegaly, Death in infancy, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Ci... OMIM:300972
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Spleno... ORPHA:1414
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Overriding aorta OMIM:309801
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, T... OMIM:243910
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Renal cyst, Splenomegal... OMIM:614866
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatomegaly, Hepatocellular necrosis OMIM:618278
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice OMIM:224100
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Abnormal urinary color, Biliary tract abnormality, Jaundice ORPHA:234
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Left ventricular hypertrophy, Micropenis, Biliary tra... OMIM:209900
Adams-Oliver Syndrome
Arteriovenous malformation, Congenital hepatic fibrosis, Cirrhosis, Tetralogy of Fallot, Abnormal... ORPHA:974
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality o... ORPHA:436252
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus art... ORPHA:488618
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... ORPHA:79240
Hepatocellular Carcinoma
Hepatomegaly, Hemobilia, Hepatic necrosis, Jaundice, Abnormality of the liver, Abnormality of the... ORPHA:88673
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Medullary Thyroid Carcinoma
Neoplasm of the lung, Nodular goiter, Abnormal liver parenchyma morphology, Primary hyperparathyr... ORPHA:1332
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Splenomeg... ORPHA:231226
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus OMIM:228940
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:79322
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Primary Pulmonary Hypoplasia
Dextrocardia, Secundum atrial septal defect, Abnormal pulmonary artery morphology ORPHA:2257
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, P... OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Hydronephrosis, Pancreatic hypoplasia, Perimembranous ventricular septal defect, Ch... ORPHA:83617
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... ORPHA:99050
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Biliary atresia, Renal agenesis OMIM:115470
Primary Ciliary Dyskinesia
Asplenia, Persistent left superior vena cava, Double outlet right ventricle, Situs inversus total... ORPHA:244
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosu... OMIM:614886
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Enuresis, Pancreatitis, Hepatic steatos... ORPHA:247585
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcin... ORPHA:231214
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Meacham Syndrome
Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Situs inversus totalis,... ORPHA:3097
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:619189
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Hepatic fibrosis, Micropenis, Polycystic kidney dysplasia, Atrial sept... OMIM:263520
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia, Dilatation of the cerebral ... OMIM:600666
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Abnormal heart morphology, Hypoplasia of the thymus, Intrahepatic bi... OMIM:214110
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Farber Disease
Hepatic fibrosis, Cherry red spot of the macula, Intrahepatic cholestasis with episodic jaundice,... ORPHA:333
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Polycystic kidney dysplasia, Abnormal car... OMIM:608776
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Splenomegaly, Atrial septal de... ORPHA:290
Fetal Trimethadione Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:1913
Rajab Interstitial Lung Disease With Brain Calcifications 1
Bile duct proliferation, Cirrhosis, Hepatic steatosis, Decreased liver function, Recurrent urinar... OMIM:613658
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Cholelithiasis, Jaundice ORPHA:846
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Ab... ORPHA:284
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Genitopalatocardiac Syndrome
Hypospadias, Abnormality of the gallbladder, Abnormality of mesentery morphology, Multicystic kid... ORPHA:2075
46,Xx Sex Reversal 5
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect OMIM:618901
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Acute hepatic steatosis, Hepatitis, Aortic atherosclerotic lesion, M... ORPHA:209902
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Asplenia, Endocardial fibroelastosis, Patent ductus arte... ORPHA:99776
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Williams Syndrome
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Overriding... ORPHA:904
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy, Tetralogy of Fal... ORPHA:3033
Sickle Cell Anemia
Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Renal insufficiency, Jaundice OMIM:603903
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Abnormal lung lobation, Pelvic kidney, Spleno... OMIM:156810
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Hydronephrosis, Ventricular septal defect, Asplenia, Annular pancreas, Atr... ORPHA:210122
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Congenital... ORPHA:2970
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septal defect... ORPHA:90308
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Coarctation of aorta, Atrial septal defect OMIM:600987
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Bacterial end... ORPHA:3092
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... OMIM:612561
Fanconi Anemia, Complementation Group O
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Cryptorchi... OMIM:613390
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
X-Linked Lymphoproliferative Disease
Myocarditis, Hepatic necrosis, Fulminant hepatitis, Nephritis, Splenomegaly, Decreased liver func... ORPHA:2442
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Bacterial endocarditis, Hepatic fibrosis, Mitral valve calcification, ... ORPHA:2072
Meckel Syndrome
Ureteral duplication, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Situs inversus tot... ORPHA:564
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Persistent left superior vena cava, Aortic root aneurysm, Situs inversus t... OMIM:609008
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Hepatomegaly, Renal hypoplasia, Ventricular septal defect, Hypoplastic ni... OMIM:269860
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Renal agenesis, Renal dysplasia, Absent gallbladder, Atri... ORPHA:1335
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Johanson-Blizzard Syndrome
Dextrocardia, Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, Abnormality ... ORPHA:2315
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot ORPHA:96092
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect OMIM:301040
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Death in infancy, Renal cyst OMIM:614862
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Pneumothorax, Renal cyst, Cardiomyopathy, Hepatic steatosis, Elevated hepatic t... ORPHA:445038
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Biliary tract obstruction, Hematuria, Splenomegaly, Cirrhosis... ORPHA:77259
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Renal salt wasting, Hepatic fibrosis, Precocious atherosclerosi... ORPHA:275761
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Ventricular septal defect, Hypoplastic nipples, Pericardial effusio... ORPHA:79328
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Heterotaxy OMIM:618846
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Abnormal heart morphology, Atrial septal defect, Abnormal aortic valve morphology ORPHA:261197
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Hepatic fibrosis, ... OMIM:218330
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Abnormality of the gallbladder, Aplasia/Hypoplasia o... ORPHA:887
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... OMIM:618775
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:613870
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Transposition... ORPHA:1926
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Pulmona... OMIM:608022
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Cholelithiasis, Jaundice OMIM:232800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Cystic Fibrosis
Hepatomegaly, Recurrent respiratory infections, Pulmonary fibrosis, Exocrine pancreatic insuffici... ORPHA:586
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase OMIM:614883
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Joubert Syndrome 1
Occipital myelomeningocele, Renal cyst, Hepatic fibrosis, Nephropathy OMIM:213300
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Elevated circulating aspartate aminotransferase c... OMIM:207900
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... OMIM:179613
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Renal cyst OMIM:138790
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Ventricular hypertrophy, Abnormal heart morphol... ORPHA:284169
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Aplasia/Hypoplasia of the l... ORPHA:1834
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Peutz-Jeghers Syndrome
Abnormality of the ureter, Abnormality of the gallbladder, Neoplasm of the lung, Renal cell carci... ORPHA:2869
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Pulmonary fibrosis OMIM:224230
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Cholestatic liver... OMIM:613404
Filippi Syndrome
Ventricular septal defect OMIM:272440
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal ... OMIM:145001
Phace Association
Ventricular septal defect, Coarctation of aorta, Anomalous branches of internal carotid artery, P... OMIM:606519
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis OMIM:616263
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Situs inversus totalis, A... ORPHA:289
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ureteral duplication, Ventricular septal defect, Pancreatic hypoplasia, ... ORPHA:2255
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Renal dysplasia, Prolonged neonatal jaundice, Ventricular s... OMIM:118450
Acute Liver Failure
Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Acute kidney injury, Elevated hepatic trans... ORPHA:90062
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Cholestatic liver... OMIM:208085
Pagod Syndrome
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Death in infancy, Situs inver... ORPHA:991
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Mitral valve calcification, Ventricular hypertrophy, A... ORPHA:363618