Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 1
Synonyms:
ADAM-TS1,  METH1,  METH-1,  ADAMTS-1

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
abnormal eye morphology Adamts1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Adamts1em1(IMPC)Mbp HET Early adult 0.00
eye hemorrhage Adamts1em1(IMPC)Mbp HET   Early adult 1.25×10-05
preweaning lethality, incomplete penetrance Adamts1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Adamts1em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Adamts1em1(IMPC)Mbp HOM E18.5 0.00
abnormal kidney morphology Adamts1em1(IMPC)Mbp HET Early adult 0.00
small heart Adamts1em1(IMPC)Mbp HET Early adult 0.00
abnormal body wall morphology Adamts1em1(IMPC)Mbp HOM E18.5 0.00
abnormal placenta vasculature Adamts1em1(IMPC)Mbp HOM E18.5 0.00
increased circulating bilirubin level Adamts1em1(IMPC)Mbp HET Early adult 5.63×10-14
no spontaneous movement Adamts1em1(IMPC)Mbp HET E18.5 0.00
enlarged spleen Adamts1em1(IMPC)Mbp HET Early adult 0.00
small kidney Adamts1em1(IMPC)Mbp HET Early adult 0.00
abnormal tail morphology Adamts1em1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Adamts1em1(IMPC)Mbp HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Human diseases caused by Adamts1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adamts1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Inguinal hernia, M... OMIM:268650
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Elevated circulating creatinine concentration, Hyperuricemia, Bicornuate ... OMIM:137920
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Increased... ORPHA:49041
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Recurrent urinary tract infections, Ureteropelvic junction obstruction... ORPHA:2438
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Renal insufficiency, Pyelonephritis, Chordee, Bifid scrotum, Uretero... OMIM:140000
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Abnormality of the clitoris, Omphalocele, Ureteropelvic junction o... ORPHA:93929
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Rotor Syndrome
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Jaundice, Intermittent jaundice... ORPHA:3111
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Infantile hypercalcemia, Nephrocalcinos... OMIM:143880
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Premature ovarian insufficiency, Stage 5 chronic kidney... ORPHA:3156
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Central diabetes insipidus, Hydronephrosis OMIM:304900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Kaposiform Lymphangiomatosis
Abnormal bleeding, Multiple renal cysts, Epidural hemorrhage, Enlarged kidney, Pancreatic cysts, ... ORPHA:464329
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Hydroureter, Decreased testi... ORPHA:2970
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Failure to thr... OMIM:613845
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid conce... OMIM:608709
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver di... ORPHA:2924
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Hardikar Syndrome
Hydroureter, Hyperbilirubinemia, Recurrent urinary tract infections, Vaginal atresia, Vesicourete... OMIM:612726
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Menometrorrhagia, Truncal obesity, Failure to thrive, Diabetes ... ORPHA:189427
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Congestive hea... OMIM:269920
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Cushing Disease
Infertility, Premature ovarian insufficiency, Lipodystrophy, Truncal obesity, Menorrhagia, Metror... ORPHA:96253
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin system, Increased... OMIM:607364
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Contractures involving the joints of the feet... ORPHA:444072
Kabuki Syndrome
Cryptorchidism, Crossed fused renal ectopia, Duplicated collecting system, Abnormal localization ... ORPHA:2322
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholestasis, Pul... OMIM:614300
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Distal arthro... OMIM:618975
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Leukocytosis, Intracranial hemorrhage, ... ORPHA:340
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Primary amenorrhea, Distal renal tubular acidosis, Unilateral r... OMIM:146255
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Image Syndrome
Cryptorchidism, Adrenal hypoplasia, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Marburg Hemorrhagic Fever
Abnormal bleeding, Hematuria, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocyt... ORPHA:99826
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Camptodactyly, Duplicated collecting system, Hypoplastic nipples, Ureteropelvic junction obstruct... OMIM:280000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypogonadism, Obe... OMIM:616629
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Autoimmune hemolytic anemia, Congestive heart ... ORPHA:90037
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly, Jaundice, Ascites, Renal insufficiency ORPHA:890
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Diabetes insipidus OMIM:304800
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria, Failure to thrive OMIM:125800
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Renal cyst, Ureteral stenosis, Large for gestational age, Nephrocalcinosis OMIM:615398
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Atretic gallbladder, Extrahepatic biliary duct atresia, Hyp... OMIM:210500
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Renal hypoplasia, Scrotal hypoplasia, Unilate... OMIM:270400
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Calcinosis, Hyperca... OMIM:239200
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Stillbirth OMIM:274210
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Type I diabetes mellitus, Failure to thrive, Diabetes mellitus OMIM:560000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Chondrocalcinosis, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell h... OMIM:241200
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hyperbilirubinemia, Macrovesicular hepatic steatosis, Hepatomeg... OMIM:613070
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Camptodactyly of finger, Flexion contracture of toe, Abnormality of the ureter, H... ORPHA:3409
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Atrial septal defect, Giant cell hepatitis, Ventricular septal defect, Conjuga... OMIM:208085
Mullerian Aplasia And Hyperandrogenism
Abnormality of the endocrine system, Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of... OMIM:158330
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter ORPHA:1046
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis, Abnormality of the endocrine system OMIM:274265
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Ventricular septal defect, Conjugated hyperbilirubinemia, Nephropathy, Rena... OMIM:613404
Joubert Syndrome 15
Nephronophthisis, Micropenis, Ambiguous genitalia OMIM:614464
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Post-partum hemorrhage, Oral cavity bleeding, Hyperbilirub... ORPHA:98870
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, ... OMIM:617671
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Urinary incont... ORPHA:2795
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increase... OMIM:263800
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Monosomy 9P
Cryptorchidism, Ambiguous genitalia, Ureteropelvic junction obstruction, Hernia, Congenital diaph... ORPHA:261112
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Abnormal dental enamel morphology, Clitoral hypertrophy, Ele... ORPHA:818
Cystic Echinococcosis
Peritoneal abscess, Abnormal heart morphology, Hepatic cysts, Abnormality of the peritoneum, Hype... ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality... ORPHA:2842
Okamoto Syndrome
Unilateral renal hypoplasia, Bifid uterus, Omphalocele, Urinary incontinence, Ureteropelvic junct... ORPHA:2729
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Vater/Vacterl Association
Renal agenesis, Ureteropelvic junction obstruction, Renal dysplasia, Vesicoureteral reflux, Ectop... OMIM:192350
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Generalized aminoaciduria, Hypophosphatemic ricket... OMIM:219800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Jaundice, Increased total bilirubin, Cholestasis OMIM:618528
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Infertility, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia, Abnormality of the ureter ORPHA:1035
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormal heart morphology, Intracranial hemorrhage, Hematemesis, Mus... ORPHA:464321
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Urinary bladder inflammation, Elevated circulating creatinine con... ORPHA:449395
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Pancreatic cysts, Stage 5 chronic kidney di... OMIM:614377
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepat... ORPHA:480520
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia, Gonada... ORPHA:1770
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Testicular seminoma, Nephroblastoma, Small for gestati... OMIM:180860
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Umbilical hernia, Abnormality of... ORPHA:93930
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatomegaly, Congestive hea... OMIM:602390
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypocholesterolemi... OMIM:607765
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Exstrophy-Epispadias Complex
Cryptorchidism, Bladder duplication, Bifid uterus, Omphalocele, Vesicoureteral reflux, Bladder ex... ORPHA:322
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility ORPHA:721
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Amelogenesis imperfecta, Polyuria, Enuresis, Renal insuffic... OMIM:204690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Omphalocele, Uterus didelphys, Renal hypoplasia/aplasi... ORPHA:1756
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:289548
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Hypothyroidism, Polyuria, Hyponatremia, Renal dysplasia, Hypertrigl... OMIM:618183
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Hematuria, Acute kidney injury, Leukocytosis, Hypot... ORPHA:91547
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Granulomatosis With Polyangiitis
Prostatitis, Hematuria, Weight loss, Glomerulopathy, Hydronephrosis, Elevated circulating C-react... ORPHA:900
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Failure to thrive, Decreased response to growth hormone stimuation test ORPHA:319182
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Abnormal renal corticomedulla... OMIM:616733
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Hyperammonemia, Arrhythmia, Long-c... OMIM:608836
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:168558
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Cryptorchidism, Inguinal hernia, Abnormality of the urinary system ORPHA:2719
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Caudal Regression Sequence
Cryptorchidism, Ambiguous genitalia, Maternal diabetes, Renal agenesis, Abnormality of the ureter... ORPHA:3027
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Scrotal hypoplasia, Splenopancreatic fusion, Hypoplastic nipples, Hypoplastic labia ... OMIM:269150
Gabriele-De Vries Syndrome
Cryptorchidism, Breast hypoplasia, Hypothyroidism, Ureteropelvic junction obstruction, Distal art... ORPHA:506358
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Abnormality of the urinary system, Omphalocele,... ORPHA:1834
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, H... ORPHA:1667
Teratoma, Pineal
Polyuria OMIM:273120
Mental Retardation, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Dilatation of renal calices, Truncal obesity, Obesity, Pelvic kidney ORPHA:466950
Sotos Syndrome
Cryptorchidism, Hydrocele testis, Vesicoureteral reflux, Hypercalcemia, Renal insufficiency, Uret... ORPHA:821
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Primary Pulmonary Hypoplasia
Ureteral stenosis, Failure to thrive ORPHA:2257
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal atresia, Vesico... ORPHA:2237
Retinal Venous Beading
Retinal neovascularization, Nephritis, Neutropenia, Vitreous hemorrhage OMIM:180080
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Lcat Deficiency
Hemolytic anemia, Hematuria, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Rena... ORPHA:650
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Abnormali... ORPHA:3378
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidn... OMIM:601076
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Spider hemangioma, Gastrointestinal hemorr... ORPHA:2137
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Abnormality of the ureter, Type I diabetes mellit... ORPHA:1133
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovaginal... OMIM:300896
Bile Acid Conjugation Defect 1
Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:619232
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Decreased circulating renin level, Adrenal... OMIM:103900
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Prolonged neona... OMIM:214950
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Obesity, Pelvic kidney ORPHA:466943
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Hypertension, Nephrotic syndrome, Splenomegaly... OMIM:105200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Hypercalcemia, Primary hyper... OMIM:600740
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Renal insufficiency, Anterior... OMIM:602152
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Hepato... OMIM:232200
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Congenital generalized lipodystrophy, Dilatation of renal calices, Recurrent urin... ORPHA:3455
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentratio... OMIM:614886
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjugated hyperbilirubinem... ORPHA:53035
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Teebi-Shaltout Syndrome
Horseshoe kidney, Camptodactyly, Ureteral stenosis, Hydronephrosis OMIM:272950
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Bi... ORPHA:79301
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Hepato... OMIM:232220
Congenital Bile Acid Synthesis Defect Type 2
Abnormal bleeding, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepa... ORPHA:79303
Interstitial Cystitis
Abnormality of the menstrual cycle, Pollakisuria, Abnormal vagina morphology, Nocturia, Urinary b... ORPHA:37202
Reynolds Syndrome
Lip telangiectasia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Biliary cirrhosis, Hepatomeg... OMIM:613471
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Splenom... OMIM:617303
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Abnormality of the bladder, Abnormality of the upper urinar... ORPHA:2547
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ... OMIM:276700
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice OMIM:605479
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Ambiguous genitalia, Urogenital... ORPHA:2138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Hydronephrosis OMIM:618494
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Hypokalemia, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly, Increased urinary porphobilinoge... OMIM:121300
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Enamel hypoplasia, Aplasia/Hypoplasia of the bladder, Hydroureter,... ORPHA:79404
Peutz-Jeghers Syndrome
Multiple renal cysts, Abnormality of the ureter, Renal cell carcinoma, Pancreatic adenocarcinoma,... ORPHA:2869
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Acute kidney injury, Hypotension, Subconjunctival... ORPHA:509
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypoplasia of the bladder, Sex reversal, Congenital diaphragmatic hernia, Hypospadias,... OMIM:611812
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Bifid scrotum, Premature pubarche, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Nephronophthisis 19
Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:616217
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyponatremia, Hypera... ORPHA:90790
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adren... ORPHA:189439
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Absent vas defe... ORPHA:411709
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hypothyroidism, Testicular atrophy, Hydronephrosis, Diabetes ins... OMIM:222300
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Camptodactyly of finger, Umbili... ORPHA:2311
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Otopalatodigital Syndrome Type 2
Hypospadias, Hydronephrosis, Ureteral obstruction, Failure to thrive ORPHA:90652
Kabuki Syndrome 1
Cryptorchidism, Crossed fused renal ectopia, Anoperineal fistula, Ureteropelvic junction obstruct... OMIM:147920
Meckel Syndrome 12
Arthrogryposis multiplex congenita, Renal hypoplasia, Ureteral hypoplasia, Vaginal atresia, Renal... OMIM:616258
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Decreased ... OMIM:228300
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia, Abnormal urinary color ORPHA:90036
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... OMIM:612965
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Castleman Disease
Renal insufficiency, Hematuria, Ureteral obstruction, Weight loss ORPHA:160
15Q Overgrowth Syndrome
Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephro... ORPHA:314585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis, Renal hypoplasi... ORPHA:1926
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased cir... ORPHA:231580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Elevated circulating cre... ORPHA:542323
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Yellow Fever
Nephropathy, Menometrorrhagia, Oliguria, Renal insufficiency, Spontaneous abortion, Proteinuria ORPHA:99829
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Conjugated hyperbilirubinemia, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Inguinal hernia, Bladder exstrophy, Epi... OMIM:600057
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae... OMIM:612840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality... ORPHA:223
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis, Omphalocele, Failure to thrive OMIM:309350
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficie... ORPHA:79312
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Polycythemia, Hepatomegaly, Unconjugated hyperb... OMIM:613280
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis OMIM:619218
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Hepatocellular carcinoma, He... OMIM:235200
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ect... ORPHA:3109
Lumbar Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Bladder polyp, Uterine neoplasm, Abnorm... OMIM:175200
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Prolonged prothrombin time, Atretic gallbladder, Periportal fibrosi... ORPHA:30391
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Abetalipoproteinemia
Abnormal bleeding, Cirrhosis, Hypotriglyceridemia, Reticulocytosis, Hepatic steatosis, Hyperbilir... ORPHA:14
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease, Obesity OMIM:615630
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Abnormal blood i... ORPHA:173
Alagille Syndrome
Cryptorchidism, Abnormality of the ureter, Delayed puberty, Failure to thrive, Nephrotic syndrome... ORPHA:52
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Flexion contracture, Oliguria ORPHA:220393
Trisomy 20P
Cryptorchidism, Camptodactyly of finger, Multiple renal cysts, Macroorchidism, Umbilical hernia, ... ORPHA:261318
Branchioskeletogenital Syndrome
Absent nipple, Umbilical hernia, Absent external genitalia, Penoscrotal hypospadias, Bladder exst... ORPHA:1299
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Renal tubular atrophy, Renal corticomedullary cysts, Tubular ... OMIM:613159
Fish-Eye Disease
Angina pectoris, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenop... ORPHA:79292
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Failure to thrive in infancy, Abnormal localization of kidn... ORPHA:819
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased nu... OMIM:617641
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts OMIM:616307
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppress... ORPHA:403