Gene Summary

Name:
polycystin 1, transient receptor potential channel interacting
Synonyms:
polycystin-1,  PC-1,  PC1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 6.76×10-08
preweaning lethality, complete penetrance Pkd1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased neutrophil cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 4.01×10-06
decreased erythrocyte cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 1.27×10-05
decreased circulating alkaline phosphatase level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 3.73×10-08
decreased hematocrit Pkd1tm1b(EUCOMM)Hmgu HET   Early adult 3.84×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

25 Images

Echo

M-Mode Images

48 Images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

Human diseases caused by Pkd1 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 Pkd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900

The table below shows human diseases predicted to be associated to Pkd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers OMIM:600273
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Pyloric Atresia
Polyhydramnios OMIM:265950
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Lethal Congenital Contracture Syndrome 6
Polyhydramnios, Absence of stomach bubble on fetal sonography, Decreased fetal movement OMIM:616248
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... OMIM:208540
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo... OMIM:616307
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Abdomin... ORPHA:2924
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Congenital Pulmonary Airway Malformation
Polyhydramnios, Premature birth ORPHA:2444
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Gallbladder Disease 1
Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co... OMIM:600803
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hypokalemia, Elevated circ... OMIM:613095
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites OMIM:619462
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal tubu... OMIM:602114
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Multicys... ORPHA:3032
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie... ORPHA:1909
Campomelia, Cumming Type
Hepatomegaly, Hydrops fetalis, Multicystic kidney dysplasia, Lymphedema, Bowing of the long bones... ORPHA:1318
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live... ORPHA:69663
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Nephri... OMIM:208500
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Meckel Syndrome, Type 7
Multiple glomerular cysts, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct prolife... OMIM:267010
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Renal Tubular Dysgenesis
Polyhydramnios, Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Premature birth, Pulmo... ORPHA:3033
Caroli Disease
Cholestasis, Biliary cirrhosis, Splenomegaly, Anorexia, Jaundice, Intrahepatic cholestasis, Chola... ORPHA:53035
Mirizzi Syndrome
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase... ORPHA:521219
Lipedema
Edema OMIM:614103
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Polyhydramnios, Fetal akinesia sequence OMIM:300073
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Renal cyst, Polycystic liver disease, Increased total bilirubin, Elevated c... OMIM:174050
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Abnormal intrahepatic bile ... ORPHA:480520
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyr... ORPHA:99879
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Osteopetrosis, Increased bone mineral density, Cort... OMIM:620366
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abdominal pain, Abnormal bladder ... ORPHA:284
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst OMIM:614870
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Sq... OMIM:215045
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:210500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Hydrops fetalis, Polyhydramnios, Increased bone ... ORPHA:2204
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Chronic diarrhea, Bronchiectasis, Recurrent pneum... OMIM:615207
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abdominal pain... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Thyroiditis, Abnormal pitui... ORPHA:64744
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Hypoplastic colon,... OMIM:200995
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn... ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Respiratory distress, Renal... OMIM:231680
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Porta... OMIM:619902
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro... ORPHA:85450
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Decreased skull ossification, Absent fetal nasal bone... OMIM:608022
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Hyperbiliverdinemia
Decreased liver function, Green urine, Cholelithiasis, Cholestasis, Elevated circulating biliverd... OMIM:614156
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Elevated circulating al... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia,... ORPHA:79302
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cleft palate, Cystic liver disease, ... OMIM:612284
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Absence of renal corticomedullary differentiation, Cardiac r... OMIM:613254
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Anomalous origin of left coronary artery from the pulmonary artery, Vertebral segm... OMIM:618845
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal sacrum morphology, Fractures of ... ORPHA:464329
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:557000
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia, Flexion contracture OMIM:617562
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ... OMIM:610199
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Hepatitis Delta
Anorexia, Cirrhosis, Jaundice, Abdominal pain, Fulminant hepatitis, Hepatocellular carcinoma, Ele... ORPHA:402823
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Tuberous Sclerosis 1
Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependymal nodules, Gingiv... OMIM:191100
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Polyhydramnios, Kyphosis, Camptodactyly, Cryptorchidism, Fetal pleural effusi... OMIM:618393
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Polyhydramnios, Breech presentation, H... OMIM:600972
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Esophageal varix, Portal hypertension, Hepatosplenomegaly... OMIM:232500
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Neonatal death, Fetal akinesia sequence OMIM:619602
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico... OMIM:301111
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Multicystic kidney dysplas... OMIM:607361
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent urinary tract infections, Colitis, Chronic mucocutaneous candidiasis, Vira... OMIM:209920
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Hammertoe, Death in infancy, Neonatal death, Distal arthrogryposis, Flexion contr... OMIM:616287
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia, Flex... OMIM:616733
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios OMIM:616868
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tric... OMIM:619433
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abdominal distention, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circula... ORPHA:369
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Thyroid carcinoma, Lipoma, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrol... ORPHA:99880
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... OMIM:614859
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting ORPHA:313906
Cadds
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... ORPHA:369942
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Dyspnea, Ascites, Kyphosis, Osteoporosis, Flexion contracture, Spl... ORPHA:87876
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Abnormal form of the vertebr... ORPHA:1354
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Hypercalciuria, Testicular neoplasm, R... ORPHA:143
Alport Syndrome
Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Dysphagia, St... ORPHA:63
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Abdominal distention, Encephalocele, Polycystic kidney ... OMIM:613885
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Cirrhosis, Abdominal pain, Abnormal liver sonography, Elevated circulating ... ORPHA:90003
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Chronic diarrhea, ... ORPHA:85445
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula... ORPHA:449395
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Hyperparathyroidism OMIM:239199
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Failure t... OMIM:620045
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Polyhydramnios, Periportal fibrosis, Wide anterior fontanel, Polycy... OMIM:263210
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithiasis, Coarse metaphyseal trabeculari... ORPHA:93160
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Splenomeg... ORPHA:699
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Multiple re... OMIM:193300
Wolman Disease
Abdominal distention, Hepatomegaly, Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly OMIM:620151
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Gastroschisis
Abnormal fetal gastrointestinal system morphology, Polyhydramnios, Premature birth, Oligohydramni... ORPHA:2368
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu... ORPHA:45452
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym... ORPHA:97289
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Hydrops fetalis, Death in childhood, Hydrocephalus, Ascites, Nephrotic ... OMIM:269920
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:100085
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ... ORPHA:79278
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Slender long bone, Limitation of joint mobility, Hypoplastic pelvis, Sacroc... ORPHA:2840
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Chronic diarrhea, Failure to thrive, Splenomegaly OMIM:615285
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Pul... OMIM:236500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Abnormal renal collecting system morphology, Adducted thumb, Clinodactyly of the 5th ... OMIM:616809
Ring Chromosome 8 Syndrome
Polyhydramnios, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly... ORPHA:75234
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Polyhydramnios, Spina bifida occulta, Scoliosis, Kyphosis, Arthrog... OMIM:618291
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Muscle Filaminopathy
Muscle fiber splitting, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, ... ORPHA:171445
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Death in adolescence, Fetal pericardial effusion, Fetal pleural effus... OMIM:620014
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Brachydactyly, Ventricular septal defect, Abnormal cardiac se... ORPHA:1937
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:143500
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati... ORPHA:449432
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta... OMIM:606966
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Carcinoid tumor, Pituitary adenoma, Parathyroid adenoma, R... OMIM:610755
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperos... OMIM:211900
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst, Polycystic liver disease OMIM:109130
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Spina bifida occulta, Epiphyseal stippling, Scoliosis, Limitation... ORPHA:177
Glucose-Galactose Malabsorption
Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Hypernatremia, Osmotic diar... ORPHA:35710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension, Agenesis of corpus callosum OMIM:166990
Meckel Syndrome
Ureteral duplication, Accessory spleen, Pancreatic cysts, Furrowed tongue, Asplenia, Cryptorchidi... ORPHA:564
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A... ORPHA:1040
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Furrowed tongue, Geographic t... OMIM:614204
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Coach Syndrome 2
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... OMIM:619111
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Polyhydramnios, Esophageal atresia... OMIM:314390
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis, Renal cyst, Renal agenesis... OMIM:615993
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Calciphylaxis
Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Ectopic ossification, Hyperphospha... ORPHA:280062
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Anhydramnios, Bilateral renal agenesis OMIM:619887
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Splenomegaly, Recurrent fractures, Hyperparathyroidism OMIM:618107
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Microsporidiosis
Intermittent diarrhea, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Myocarditis, Anore... ORPHA:2552
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Subependymal nodules, Pheochromocytoma, Pituitary adenoma, Parathyroid adeno... ORPHA:805
Small Bowel Atresia
Abdominal distention, Abnormal vascular morphology, Vomiting, Failure to thrive, Short stature, F... ORPHA:1201
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia, Anhydramnios, Bilateral renal agenesis OMIM:615721
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Chronic diarrhea, Esophagitis, Pneumonia, Oste... OMIM:619652
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Neonatal death OMIM:612138
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Polyhydramnios, Abnormal pancreatic duct morpholog... ORPHA:1190
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Hydrops fetalis, Polyhydramnios, Hypoplastic iliac w... OMIM:200610
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Intestinal malrotation, Cleft palate, Microglossia, Hepatic fibrosis... OMIM:263520
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Radiculoneuropathy, Fatal Neonatal
Polyhydramnios, Death in childhood OMIM:266250
Holt-Oram Syndrome
Kyphosis, Broad thumb, Absent thumb, Abnormal metacarpal morphology, Scoliosis, Radioulnar synost... ORPHA:392
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Vomiting, Increased blood urea nitrogen, Failure to thrive, Elevated circulating cr... OMIM:617872
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Sacral dimple, Wide anterior fontanel, Kyphosis, Umbilical hernia, Nephroblastom... OMIM:618272
Nemaline Myopathy 10
Polyhydramnios, Breech presentation, Death in infancy, Premature birth, Neonatal death, Decreased... OMIM:616165
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena... OMIM:137920
Mosaic Trisomy 1
Single umbilical artery, Polyhydramnios, Knee joint hypermobility, Renal cortical cysts, Elbow fl... ORPHA:1692
Lethal Recessive Chondrodysplasia
Polyhydramnios, Short long bone, Flared elbow metaphyses, Generalized osteosclerosis, Edema ORPHA:1423
Czeizel-Losonci Syndrome
Spina bifida occulta, Congenital megaureter, Hydrocephalus, Hypoplastic nipples, High palate, Mye... ORPHA:2437
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Bradycardia, Hypertrophic cardiomyopathy, ... OMIM:618815
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Cachexia, Constipation, Slen... OMIM:613662
Meckel Syndrome, Type 5
Cleft palate, Renal cyst, Bile duct proliferation OMIM:611561
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Nephrotic... ORPHA:60
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Renal cyst, ... OMIM:135150
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Elbow flexion contracture, Elevated circulating creatine kinase concentr... ORPHA:206546
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Elbow flexion contracture, Camptodactyly, Flexion contracture of finger, Flexion ... OMIM:617194
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation... OMIM:602200
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Miscarriage, Lymphedema, Pleural effusion, Ascites, Tw... ORPHA:1041
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Pa... OMIM:274000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Pierre Robin Syndrome
Micrognathia, Cor pulmonale OMIM:261800
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary hypoplasia, Nonimmune hydrops f... OMIM:619003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Single umbilical artery, Hydrops fetalis, Polyhydramnios, Hypospadias, Webbed neck, C... OMIM:616897
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in childhood, Hypospadias, Death in infancy, Neonatal death, Decreased feta... OMIM:619334
Nemaline Myopathy 9
Polyhydramnios, Breech presentation, Fetal akinesia sequence OMIM:615731
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Protein-losing enteropathy, Diarrhea, Proximal tubulopathy,... OMIM:602579
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Thyroiditis, Abnormal intestine morphology, Portal hypertension, Hepatosp... ORPHA:228426
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibros... OMIM:616263
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:612089
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Classic Multiminicore Myopathy
Muscular dystrophy, Weakness of facial musculature, Mandibular prognathia, Generalized amyotrophy... ORPHA:324604
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Polyhydramnios, Death in childhood, Cryptorchidism, Death in infancy, Decreas... OMIM:618766
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Scoliosis, Radial deviation of the 2nd finger, Camptodactyly of f... ORPHA:1388
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Hepatomegaly, Ascites, Premature birth... ORPHA:2123
Nephrotic Syndrome, Type 1
Abdominal distention, Gastroesophageal reflux, Glomerular sclerosis, Hypoproteinemia, Hyperlipide... OMIM:256300
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Unilateral renal agenesis,... OMIM:620454
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Hypoplasia of penis, Ascites, Abnormality ... ORPHA:1046
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Mandibular prognathia, Elbow flexion contrac... OMIM:619040
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short neck, Abnormal morphology of ulna, Abnormal metacarpal morphology, Mitral valve prolapse ORPHA:2233
Achondrogenesis Type 1A
Hydrops fetalis, Polyhydramnios, Recurrent fractures, Abnormal enchondral ossification, Thickened... ORPHA:93299
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, E... OMIM:607765
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Fetal pyelectasis, Pulmonary hypoplasia, Knee flexion contr... OMIM:616531
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries ORPHA:90301
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Fountain Syndrome
Abnormal metacarpal morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies,... ORPHA:3219
Achondrogenesis
Hydrops fetalis, Polyhydramnios, Abnormality of bone mineral density, Abnormal enchondral ossific... ORPHA:932
Schneckenbecken Dysplasia
Metaphyseal irregularity, Stillbirth, Polyhydramnios, Snail-like ilia, Short long bone, Flat acet... OMIM:269250
Primary Effusion Lymphoma
Abdominal distention, Abnormal peritoneum morphology, Abdominal pain, Pleural effusion, Dyspnea, ... ORPHA:48686
Pontocerebellar Hypoplasia, Type 12
Polyhydramnios, Lateral ventricle dilatation OMIM:618266
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly, Weight loss, Nausea and vomiting, Ami... ORPHA:79238
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios, Death in infancy OMIM:619303
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Nemaline Myopathy 8
Death in infancy, Polyhydramnios, Fetal akinesia sequence, Decreased fetal movement OMIM:615348
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Nephronophthisis 18
Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub... OMIM:615862
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232200
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Rocker bottom foot, Flexion contracture of toe, Breech presentation, Wrist flexio... OMIM:193700
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Meckel Syndrome, Type 2
Intestinal malrotation, Cleft palate, Renal cyst, Bile duct proliferation OMIM:603194
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczematoid dermatitis, Cholelithiasis, Hepatic failure OMIM:177000
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, El... ORPHA:275555
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepa... ORPHA:65682
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Atrial septal defect, Aplasia/Hypoplasia of... ORPHA:52056
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormal cortical bone morphology, Abnormal hip bone morphology, Webbed neck, Abn... ORPHA:1486
Achondrogenesis Type 1B
Hydrops fetalis, Polyhydramnios, Abnormal enchondral ossification, Thickened nuchal skin fold, Um... ORPHA:93298
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontane... OMIM:113000
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Genu valgum, Spina bifida occulta, Hypoplasia of penis, Kyphosis, S... ORPHA:2983
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Distal Duplication 14Q
Short stature, Abnormal aortic morphology, Abnormality of the upper urinary tract, Patent ductus ... ORPHA:1705
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Thomas Syndrome
Oligohydramnios, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Hypophosphatasia, Infantile
Anorexia, Stillbirth, Polyhydramnios, Unossified vertebral bodies, Hypercalciuria, Elevated urine... OMIM:241500
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation OMIM:610688
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Acrodysplasia Scoliosis
Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Free Sialic Acid Storage Disease
Hydrops fetalis, Reduced bone mineral density, Hepatomegaly, Ascites, Nephrotic syndrome, Protein... ORPHA:834
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me... ORPHA:85198
Congenital Disorder Of Glycosylation, Type If