Gene Summary

Name:
phosphodiesterase 1A, calmodulin-dependent
Synonyms:
N/A

IMPC Data Collections

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 blood urea nitrogen level Pde1aem1(IMPC)H HOM Late adult 2.05×10-06
hyperactivity Pde1aem1(IMPC)H HOM   Early adult 2.69×10-05
abnormal gait Pde1aem1(IMPC)H HOM Early adult 1.15×10-05

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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 Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Human diseases caused by Pde1a 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 Pde1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, St... OMIM:602088
Nephronophthisis 16
Hypertrophic cardiomyopathy, Nephronophthisis, Pulmonic stenosis, Polycystic kidney dysplasia, Ao... OMIM:615382
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal c... OMIM:263200
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Abnormality of the kidney, Acute kidney injury, Nephropathy, Ch... ORPHA:85445
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Indomethacin Embryofetopathy
Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... ORPHA:1909
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hypertension, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Decreased glomerular filtration rate, Hepatic cysts, Renal cyst, ... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ne... OMIM:602114
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Raynaud phenomenon, Nephropathy, Renal insufficiency, Supraventricular arr... OMIM:611773
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension OMIM:236800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency, Hypotension OMIM:156310
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Renal in... ORPHA:54370
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Elevated circulating alkaline phosphatase concentration OMIM:174050
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Pulmonic stenosis, Aortic valv... OMIM:615415
Renal Failure, Progressive, With Hypertension
Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... OMIM:161900
Senior-Loken Syndrome
Chronic kidney disease, Hypertension, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Hypertension, Pancreatic cysts, Nephronophthisis, Renal corticomedullary c... OMIM:613159
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, ... OMIM:613095
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk OMIM:619639
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Atrial fibrillation, Urinary retention, D... ORPHA:976
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Alagille Syndrome 2
Hypertension, Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Dystonia With Ringbinden
Dystonia, Gait disturbance OMIM:224550
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Mpdu1-Cdg
Renal cortical cysts, Abnormal enzyme/coenzyme activity ORPHA:79323
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Isolated Polycystic Liver Disease
Hepatomegaly, Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
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
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Bradykinesia OMIM:168100
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Coach Syndrome 1
Hypertension, Hepatomegaly, Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, S... OMIM:216360
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Nephronophthisis 15
Nephronophthisis, Hepatic failure OMIM:614845
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Abnormality of the kidney OMIM:613730
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Decreased glomerular filtration r... OMIM:232200
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular s... OMIM:276700
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Renal hypoplasia OMIM:618681
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Senior-Boichis Syndrome
Hypertension, Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubula... ORPHA:84081
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Decreased glomerular filtration r... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Antenatal intracerebr... OMIM:608836
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Focal segmental glomerulosclerosis, Renal cyst, Nephropathy OMIM:617056
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Renal cyst, Splenomegaly, Hepatosplenomegaly, Renal cortical microcysts, Jaundice OMIM:614866
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatomegaly, Renal dysplasia, Renal tubular acidosis, Renal cyst, Cardiomyopat... OMIM:614922
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Cardi... OMIM:130650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase OMIM:614883
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Enlarged kidney, Polycystic kidne... OMIM:208540
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypertension, Membranoproliferative glomerulonephritis, Proteinuria, Enlar... ORPHA:251004
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Renal Hypoplasia
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... ORPHA:93101
Oligomeganephronia
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... ORPHA:2260
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Renal dysplasia, Abnormal renal corticomedullary diff... OMIM:616733
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... OMIM:613550
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Liddle Syndrome
Hypertension, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia ORPHA:526
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Hepatomeg... OMIM:617303
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Hypotension, Anuria OMIM:267430
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Joubert Syndrome 20
Renal cyst OMIM:614970
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Elevated circulating alkaline phosphatase concentration, Vesicoureteral reflux OMIM:618548
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Hypospadias, Renal cortical cysts, Renal dysplasia, Hyperechogenic kidneys, Elevated... ORPHA:397715
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Stage 5 chronic kidney disease, Splenomegaly OMIM:616217
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias ORPHA:1692
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Renal cyst, Dark urine, Increa... ORPHA:79303
C Syndrome
Renal cortical cysts, Hepatomegaly OMIM:211750
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Attrv30M Amyloidosis
Atrioventricular block, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy, Arr... ORPHA:85447
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Neph... OMIM:266920
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Autosomal Recessive Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Stage 5 chronic kidney disease, Elevated gamma-glutamyltransferas... ORPHA:731
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hydronephrosis, Albuminuria, Renal cortical microcysts, Prolonged neon... OMIM:214100
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Aortic regurgitation, Pulmonic stenosis, Renal cortical microcysts, He... OMIM:222470
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Axial Osteomalacia
Renal cyst OMIM:109130
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxis, Splenomegaly, Hepat... ORPHA:464329
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... ORPHA:157
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Renal insufficiency, Acu... ORPHA:411536
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Relapsing Fever
Abnormality of the urinary system, Hematuria, Epistaxis, Tachycardia, Increased circulating lacta... ORPHA:91547
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis OMIM:236500
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Pericarditis, Urinary bladder... ORPHA:449395
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Heavy proteinuria, Mitral regurgitation, Nephrotic syndrome, Pulmona... ORPHA:505248
Morm Syndrome
Hyperactivity ORPHA:75858
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Lymphoid Interstitial Pneumonia
Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Enlarged kidney ORPHA:79128
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Abnormality of alkaline phosphatase level, Renal cyst, Nephrolithi... OMIM:137920
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Telangiectasia of the skin, Nephroblastoma, Enlarged kidney ORPHA:276280
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... ORPHA:228308
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Oliguria, Abnormal renal tubule morphology, Renal insufficiency, Arrhy... ORPHA:188
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal cyst, Cardiomyopathy, Elevated hepatic transaminase, 3-Methylglutaconic a... ORPHA:445038
Joubert Syndrome 14
Hypertension, Renal cyst OMIM:614424
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Reduced ejection fraction, Tachycardia, Heart block, Acute kidney injury,... ORPHA:542323
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Bardet-Biedl Syndrome
Hypertension, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndrome ORPHA:110
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
H Syndrome
Facial telangiectasia, Abnormal cardiovascular system physiology, Micropenis, Hepatosplenomegaly,... ORPHA:168569
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Stage 5 chronic kidney dise... OMIM:267010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Epistaxis, Polycystic ... ORPHA:79259
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Hem... OMIM:104200
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pancreatic cysts OMIM:616307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Dicarboxylic aciduria, Oliguria, Hepatic f... ORPHA:159
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... ORPHA:2970
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Chronic kidney disease OMIM:615630
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Cardiomyopathy, Decreased... ORPHA:26791
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Hypotension ORPHA:79155
Cystic Echinococcosis
Hepatomegaly, Membranous nephropathy, Hepatic cysts, Renal cyst, Elevated gamma-glutamyltransfera... ORPHA:400
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hypotension OMIM:203400
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Hypercalciuria OMIM:615398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612926
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Elevated hepatic transaminase, Ureterocel... ORPHA:261265
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Renal sodium wasting, Hypotension ORPHA:556037
Legionnaires Disease
Myocarditis, Pericarditis, Hematuria, Hepatitis, Splenomegaly, Renal insufficiency, Proteinuria, ... ORPHA:549
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Ileal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... ORPHA:100077
Mungan Syndrome
Renal hypoplasia, Tricuspid regurgitation, Pulmonic stenosis, Hypoperistalsis, Vesicoureteral reflux OMIM:611376
Histidinemia
Hyperactivity ORPHA:2157
Meckel Syndrome, Type 2
Meningocele, Renal cyst OMIM:603194
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Elevated hepatic transaminase, Renal dyspla... OMIM:118450
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Cardiomyopathy, Elevated hepa... OMIM:212065
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Familial Hypoaldosteronism
Renal salt wasting, Orthostatic hypotension, Decreased urinary potassium, Proximal renal tubular ... ORPHA:427
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Scrub Typhus
Myocarditis, Renal insufficiency, Hypotension, Splenomegaly ORPHA:83317
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Glomerulopathy, Renal agenesis, Renal Fanconi syndrome, Renal cell... ORPHA:93111
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Renal sodium wasting, Hypotension ORPHA:556030
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Hypotension OMIM:264350
Mercury Poisoning
Hypertension, Acute kidney injury, Tachycardia, Hypotension ORPHA:330021
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... ORPHA:2973
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Nephritis, Renal cyst, Chronic kidney disease, Protein... OMIM:208500
Acquired Von Willebrand Syndrome
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... ORPHA:99147
Caroli Disease
Hepatomegaly, Elevated gamma-glutamyltransferase level, Splenomegaly, Elevated circulating alanin... ORPHA:53035
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Hepatomegaly OMIM:607361
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Von Hippel-Lindau Syndrome
Hypertension, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomeg... ORPHA:116
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Palpitations, Melena, Tricuspid r... ORPHA:100080
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary system, Abnormal localizati... ORPHA:1834
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Tubulointerstitial nephritis, Ventricul... ORPHA:90068
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic cysts, Hepatitis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:610199
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Hepatic cysts, Tricuspid regurgit... ORPHA:79328
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Heart murmur ORPHA:166035
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hepatic failure, Hypotension ORPHA:43116
Hellp Syndrome
Cerebral hemorrhage, Hemoglobinuria, Increased circulating lactate dehydrogenase concentration, A... ORPHA:244242
Histiocytoid Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricu... ORPHA:137675
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Duodenal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Melena, Pulmonic ste... ORPHA:100076
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Meningococcal Meningitis
Shock, Renal insufficiency, Hypotension ORPHA:33475
Ethylene Glycol Poisoning
Shock, Hypertension, Renal tubular dysfunction, Prolonged QT interval, Atrial fibrillation, Decre... ORPHA:31826
Peutz-Jeghers Syndrome
Abnormality of the ureter, Renal cell carcinoma, Gastrointestinal hemorrhage, Multiple renal cyst... ORPHA:2869
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Atresia Of Urethra
Pulmonary insufficiency, Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fis... ORPHA:105
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Renal insufficiency, Oliguria, Congestive heart failure, Hypovole... ORPHA:31824
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Elevated tot... ORPHA:79455
Meckel Syndrome, Type 6
Renal cyst OMIM:612284
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney ORPHA:500095
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Palpitations, Melena, Tricuspid r... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Palpitations, Melena, Tricuspid r... ORPHA:100082
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Microvillus Inclusion Disease
Hypovolemia, Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Leprechaunism
Hypertrophic cardiomyopathy, Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperc... ORPHA:508
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Pancreatic cysts, Palpitations, Renal cell carcinoma, Cardiomyopathy, ... ORPHA:892
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Meckel Syndrome, Type 4
Meningocele, Renal cyst OMIM:611134
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Splenomegaly, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy, Eleva... ORPHA:1454
Alveolar Echinococcosis
Pancreatic cysts, Budd-Chiari syndrome, Hepatic cysts, Renal cyst, Abnormality of bladder morphol... ORPHA:284
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Hypocalciuria, Renal potassium wast... OMIM:263800
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter, Hypoperistalsis ORPHA:2241
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Gand Syndrome
Hyperactivity OMIM:615074
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Mitral stenosis, Renal cyst OMIM:617260
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Caroli Syndrome
Hepatomegaly, Elevated hepatic transaminase, Hematemesis, Melena, Polycystic kidney dysplasia, El... ORPHA:480520
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst, Systolic heart murmur OMIM:617478
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Hypoplasia of penis, ... ORPHA:261494
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Congestive heart failure, Hypermagnesiuria, Hypercalciuria, Arrhythmia, Hypoten... ORPHA:428
Congenital Hypothyroidism
Hypertension, Nephrolithiasis, Prolonged neonatal jaundice, Arrhythmia, Hypotension ORPHA:442
Campomelia, Cumming Type
Multiple renal cysts, Multicystic kidney dysplasia, Hepatomegaly, Pancreatic cysts ORPHA:1318
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Neuroleptic Malignant Syndrome
Hypertension, Myoglobinuria, Hypertensive crisis, Tachycardia, Bradycardia, Increased circulating... ORPHA:94093
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:99880
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... OMIM:113650
Cholera
Abnormality of renal excretion, Hypovolemic shock, Decreased urine output, Tachycardia, Acute kid... ORPHA:173
Analbuminemia
Hypotension OMIM:616000
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Transketolase Deficiency
Hepatomegaly, Renal cyst, Increased level of ribose in urine ORPHA:488618
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Parathyroid Carcinoma
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:143
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Trisomy 13
Displacement of the urethral meatus, Hydronephrosis, Abnormality of the ureter, Multiple renal cysts ORPHA:3378
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycardia, Increased circu... ORPHA:319213
Sepsis In Premature Infants
Hepatomegaly, Reversible renal failure, Tachycardia, Bradycardia, Splenomegaly, Decreased liver f... ORPHA:90051
Tuberous Sclerosis 1
Renal cell carcinoma, Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cyst OMIM:191100
Perry Syndrome
Hypotension ORPHA:178509
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Palpitations, Tricuspid regurgita... ORPHA:97287
Trisomy 17P
Urethral valve, Hydronephrosis, Hypoplasia of penis, Urethral stenosis, Polycystic kidney dysplas... ORPHA:261290
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... OMIM:617641
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Hypotension ORPHA:199296
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Gastrointestinal hemorrhage, Hepatosplen... ORPHA:98850
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Mody
Glycosuria, Renal cyst, Abnormality of the kidney, Nephropathy ORPHA:552
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Vesicoureteral reflux, Microphallus OMIM:618454
Zellweger Syndrome
Hypospadias, Hepatomegaly, Hydronephrosis, Multicystic kidney dysplasia, Hepatic failure, Jaundice ORPHA:912
Nipah Virus Disease
Hypotension ORPHA:99825
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypot... OMIM:261740
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Palpitations, Melena, Tricuspid r... ORPHA:100075
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Restrictive cardiomyopathy,... ORPHA:369837
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Tuberous Sclerosis Complex
Hypertension, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease, Po... ORPHA:805
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology ORPHA:79243
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplas... ORPHA:79404
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Aminoaciduria, Jaundice OMIM:214110
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Joubert Syndrome 2
Abnormal renal physiology, Renal cyst, Nephronophthisis OMIM:608091
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... ORPHA:887
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Tuberous Sclerosis 2
Renal cell carcinoma, Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cyst OMIM:613254
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase ORPHA:79456
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Hepatitis, Tachycardia, Recurrent urinary tract infections, Glomerulonephriti... ORPHA:36234
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicour... ORPHA:2237
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Epistaxis, Gastrointestinal hemorrhage, Hypotension ORPHA:99828
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Polycystic kidney dysplasia, Dilatation of the renal pelvis, Ne... ORPHA:314588
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Cardiomyopa... OMIM:312870
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Leptospirosis
Hepatomegaly, Pericarditis, Cellular urinary casts, Retinal hemorrhage, Elevated serum transamina... ORPHA:509
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma OMIM:617107
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Pelvic kidney, Aortic regurgitation, Renal cyst, Micropenis, Unilate... ORPHA:464311
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Pulmonary arterial hypertension, Fatal liver failure in infancy, Decreased li... ORPHA:275761
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait ORPHA:485350
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Decreased... ORPHA:466650
Pearson Syndrome
Hepatomegaly, Lacticaciduria, Cardiac conduction abnormality, Renal cyst, Cardiomyopathy, Glycosu... ORPHA:699
Fragile X Syndrome
Hyperactivity OMIM:300624
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:308205
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Diffuse alveolar hemorrhage, Abnormal lef... ORPHA:99827
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni... ORPHA:49
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Renal agenesis, Increased urine alpha-ketoglutarate concentration OMIM:220500
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Acute Adrenal Insufficiency
Orthostatic hypotension, Decreased urinary potassium, Myocardial infarction, Hypovolemia, Renal s... ORPHA:95409
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Ketonuria, Cardiac arrest, 3-Methylglutaric aciduria, Eleva... ORPHA:20
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Renal salt wasting, Hypernatriur... ORPHA:361
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Absence of renal corticomedullary differentiation, Hepatic failure, Splenomegaly OMIM:259720
Orofaciodigital Syndrome I
Hypertension, Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Pro... OMIM:311200
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypotension ORPHA:439822
Trisomy 20P
Hypospadias, Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Multiple... ORPHA:261318
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Pelvic kidney, Aortic regurgitation, Renal cyst, Micropenis, Unilate... ORPHA:464306
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Renal dysplasia, Renal cyst, Micropenis, Distal urethral duplic... OMIM:146510
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension OMIM:263400