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Gene: Vamp5 MGI:1858622

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
vesicle-associated membrane protein 5
Synonyms:
Camp

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Vamp5 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 Vamp5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Respiratory failure, Death in infancy OMIM:618240
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... OMIM:619773
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections, Respiratory i... ORPHA:2111
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Respiratory insufficiency, Stage 5 chronic kidney disea... OMIM:602088
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2487
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Respiratory insufficiency,... ORPHA:2973
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, R... OMIM:615993
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Acute Interstitial Pneumonia
Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick... ORPHA:79126
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal respiratory distress, Reticular pattern on pulmonary HRCT, Usual i... OMIM:610921
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Respiratory insufficiency, Renal insufficiency, Abnorm... ORPHA:1909
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Neonatal death OMIM:614870
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Desquamative inters... OMIM:263000
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re... ORPHA:70589
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Neonatal respiratory distress, Ureteroce... ORPHA:1851
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia OMIM:618845
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira... OMIM:178550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Apl... ORPHA:1046
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Pulmonary hypopl... ORPHA:3033
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Respiratory failure ORPHA:890
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor... ORPHA:70588
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Enlarged kidney, Nephroblastoma OMIM:618272
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Abnormality of the urinary system, Respirator... ORPHA:90117
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Renal hypoplasia, Respiratory failure, Stillbirth OMIM:276950
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure ORPHA:70587
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Hepatic cysts, Stillbirth, Hepatomegaly, Enlarged kidney, Cystic renal dy... OMIM:615415
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia, Pul... OMIM:236500
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Joubert Syndrome 20
Renal cyst, Respiratory insufficiency OMIM:614970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona... OMIM:610978
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Respiratory insufficiency ORPHA:2924
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Hypospadias, Respiratory failure OMIM:619334
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... ORPHA:723
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Glandular hypospadias, Penile hypospadias, Death in infancy, Neonatal death, Micrope... OMIM:300219
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... ORPHA:3348
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep... ORPHA:99931
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Respiratory failure, Death in infancy OMIM:614862
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent... OMIM:608647
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Ground-glass opacification, Subpleura... ORPHA:79128
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter OMIM:222300
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Renal insufficiency, Death in infancy, ... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia OMIM:314390
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Vesicoureteral reflux, Abnormality of the pulmonary artery, Renal hypo... ORPHA:1166
Noonan Syndrome 9
Hydroureter OMIM:616559
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Respiratory insufficiency due to muscle weakness, Respiratory insu... OMIM:618578
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Death in infancy, Lacticaciduria, Respiratory failure OMIM:619386
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Splenom... OMIM:208540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... ORPHA:49
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Respiratory failure ORPHA:71211
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Renal cyst, Multiple pulmonary cysts, Renal cell carcinoma, Renal neoplasm OMIM:135150
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Congenital megaureter, Pulm... ORPHA:2437
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Respiratory failure, Death in infancy OMIM:616277
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Respiratory insufficiency, Enlarged kidn... OMIM:608022
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent u... ORPHA:79404
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Methylmalonic aciduria, Respiratory insufficiency, Death in childh... OMIM:245400
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Pulmonary infiltrates, Respiratory insufficiency ORPHA:724
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Codas Syndrome
Hydroureter ORPHA:1458
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Pulmonary hypopl... OMIM:236700
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Neonatal respiratory distress, Stage 5 chronic k... OMIM:194080
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary infiltrates, Polyuria, Tubular lum... OMIM:619468
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Respiratory failure OMIM:607598
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Scedosporiosis
Pneumonia, Bronchitis, Abnormal renal morphology, Apical pulmonary opacity, Pulmonary fibrosis, P... ORPHA:449280
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Respiratory failure, Respiratory insufficiency ORPHA:370968
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Respiratory failure, Abnormality of the kidney ORPHA:79327
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... ORPHA:244
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Death in childhood, Splenomeg... OMIM:617303
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Abnormal lung lobation, Distal urethral duplication, Neonatal deat... OMIM:146510
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Pulm... ORPHA:538
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Interlobular septal thickening, Intraalveolar phospholipid accumulati... OMIM:614370
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, 3-Methylglutaconic aciduria, Abnormality of the kidney, Hepatomegaly, Hypospadi... ORPHA:1194
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal insufficiency, Renal tubular acidos... OMIM:610205
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Crossed fused renal... OMIM:300707
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Diabetic Embryopathy
Abnormality of the pulmonary artery, Renal hypoplasia/aplasia, Hydronephrosis, Micropenis, Ureter... ORPHA:1926
Meacham Syndrome
Horseshoe kidney, Scimitar anomaly, Congenital alveolar dysplasia, Death in childhood, Neonatal d... OMIM:608978
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Nephrolithiasis ORPHA:352447
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Raine Syndrome
Hydroureter, Death in infancy, Neonatal death, Hydronephrosis, Pulmonary hypoplasia OMIM:259775
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Ellis Van Creveld Syndrome
Hydroureter, Emphysema, Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia o... ORPHA:289
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, R... OMIM:605711
Tetraploidy
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia ORPHA:3305
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut... ORPHA:36238
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Avian Influenza
Pneumonia, Acute kidney injury, Ground-glass opacification, Pleural effusion, Pulmonary infiltrat... ORPHA:454836
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Neonatal respiratory distress, Beta 2-microgl... ORPHA:97362
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Dilatation of the renal pelvis, Hydroureter, Pulmonary artery dila... OMIM:265380
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Enlarged kidney, Cystic renal dysplasia, Pulmon... OMIM:200995
Chand Syndrome
Hydroureter, Atelectasis ORPHA:1401
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati... ORPHA:449395
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Pneumothorax, Res... ORPHA:445038
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure OMIM:620296
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Respiratory insufficiency, Proteinuria, Polyuria,... OMIM:613845
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Respiratory failure, Respiratory insufficiency OMIM:615330
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation ORPHA:1745
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Hyperekplexia 4
Respiratory failure OMIM:618011
Radio-Renal Syndrome
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Pleural effusion, Renal hypoplasia/apl... ORPHA:3015
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Atelectasis, Respiratory insufficiency, Splenomegaly, Neonatal death, Hepatomeg... OMIM:269860
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Multiple renal cysts, Abnormal lung morpholog... ORPHA:464329
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Renal insufficiency, Pulmonary infiltrates, Proteinuria, Hematuria, Gl... ORPHA:375
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Atelecta... OMIM:613177
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia, Respiratory failure OMIM:620326
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Ground-glass opacification, ... ORPHA:60025
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Vici Syndrome
Recurrent respiratory infections, Renal tubular acidosis, Death in infancy, Ureteral atresia ORPHA:1493
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... ORPHA:133
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory failure, Pulmonary infiltrates ORPHA:70578
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureteral agenesis, S... OMIM:617667
Axial Osteomalacia
Renal cyst OMIM:109130
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Microphthalmia, Syndromic 9
Renal hypoplasia, Agenesis of pulmonary vessels, Respiratory insufficiency, Horseshoe kidney, Alv... OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in childhood, Prot... OMIM:220110
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Netherton Syndrome
Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney ORPHA:634
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Renal cell carcinoma ORPHA:122
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... OMIM:604292
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Displacement of the urethral meatus, Hydroneph... ORPHA:3378
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Spontaneous pneumothorax, Recurrent pneumonia, Recurrent urinary t... ORPHA:731
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Abnormal lung lobation, Renal cyst, Hypercal... ORPHA:369837
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... OMIM:129900
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Splenomegaly, Nephroblastoma, Death in infancy, Hydron... ORPHA:373
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter OMIM:619426
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Respiratory failure OMIM:620327
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Cardiac Valvular Dysplasia 1
Hydronephrosis, Pulmonary artery atresia, Hydroureter, Urethral diverticulum OMIM:212093
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Respiratory insufficiency ORPHA:2031
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Respiratory insufficiency, Respiratory tract infection, Cardiomegaly, Left ve... ORPHA:308552
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Respiratory failure, Intercostal muscle weakness, Urinary urgency OMIM:606071
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Stankiewicz-Isidor Syndrome
Micropenis, Ureteral duplication, Hypospadias OMIM:617516
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Boutonneuse Fever
Renal insufficiency, Respiratory failure ORPHA:83313
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Ventilator dependence with inability to wean, Respiratory failure OMIM:604320
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Pleural effusion, Pulmonary edema, Decreased urine output, Respiratory failure ORPHA:542323
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hepat... OMIM:301068
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Cystic Echinococcosis
Pulmonary cyst, Hepatic cysts, Ovarian cyst, Abnormal subpleural morphology, Renal cyst, Hepatome... ORPHA:400
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Death in childhood OMIM:602579
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Melnick-Needles Syndrome
Hydronephrosis, Recurrent respiratory infections, Vesicoureteral reflux, Respiratory insufficiency ORPHA:2484
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Respiratory failure, Methylmalonic aciduria OMIM:250940
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Recurrent pharyngitis, Micropenis, Bronchiectasis,... ORPHA:168569
Congenital Myopathy 17
Renal hypoplasia, Respiratory insufficiency, Ureteropelvic junction obstruction, Respiratory trac... OMIM:618975
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Cardiorespiratory arrest, Lacticaciduria, Hepatomeg... ORPHA:26791
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Alg9-Cdg
Hypoplasia of the bladder, Abnormal lung lobation, Abnormal renal artery morphology, Hepatic cyst... ORPHA:79328
Snakebite Envenomation
Acute kidney injury, Respiratory failure ORPHA:449285
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat... ORPHA:333
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Odontochondrodysplasia 1
Nephronophthisis, Death in infancy, Recurrent respiratory infections, Polycystic kidney dysplasia... OMIM:184260
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Zellweger Syndrome
Multicystic kidney dysplasia, Respiratory insufficiency, Death in infancy, Hydronephrosis, Hepato... ORPHA:912
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo... OMIM:614080
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... OMIM:276700
Joubert Syndrome 37
Hydronephrosis, Hepatomegaly, Micropenis OMIM:619185
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Hep... OMIM:618278
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hydronephrosis, Cardiomegaly, Micropenis, Hypospadias, Pulmonary hypoplasia OMIM:616897
Peutz-Jeghers Syndrome
Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts, Renal cell carcinom... ORPHA:2869
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ... ORPHA:258
Meckel Syndrome, Type 6
Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Bilobed right lung, Pulmonar... OMIM:612284
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Suleiman-El-Hattab Syndrome
Hydronephrosis, Recurrent respiratory infections OMIM:618950
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Atelectasis, Respiratory insufficiency, Respiratory tract infection, Cardiome... ORPHA:365
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Recurrent respiratory infections, Pneumonia, Respiratory failure ORPHA:98905
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Respiratory insufficiency, Renal insufficiency, Death in infan... OMIM:208500
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Megacystis, Vesicoureteral reflux, Abnormal p... ORPHA:209905
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Renal insufficiency, Atelectasis ORPHA:319213
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Respiratory failure, Death in childhood OMIM:619847
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication OMIM:610733
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias ORPHA:96169
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Atelectasis, Respiratory insufficiency, Rena... ORPHA:534
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma ORPHA:276280
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias, Pulmonary hypoplasia OMIM:614091
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Hydronephrosis, Hepatomegaly, Micropenis, Duplicated collecting system, Pu... OMIM:301056
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Death in childhood, Recurrent bronchitis, Splenomegaly, Cardiomegaly, Mucopo... OMIM:252500
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory insufficiency, Renal neoplasm, Repeated pneumothoraces, Pulmonary hypopl... ORPHA:536467
Campomelia, Cumming Type
Multicystic kidney dysplasia, Death in infancy, Multiple renal cysts, Hepatomegaly, Pancreatic cysts ORPHA:1318
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... ORPHA:84
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary interstitial... OMIM:612387
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cardiomegaly, Pleural effusion, Enlarged kidney OMIM:261740
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Polycystic kidney dysplasia, Abnormal lung lobation OMIM:263210
Zygomycosis
Nephritis, Atelectasis, Renal insufficiency, Pleural effusion, Parenchymal consolidation, Pulmona... ORPHA:73263
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Neonatal respiratory distress, Stage 5 chronic kidney disease, Hepatomegaly, Myo... ORPHA:157
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricosuria, Uric acid nephrolithiasis... OMIM:300661
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:2759
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Respiratory failure ORPHA:363400
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia OMIM:154230
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Kleefstra Syndrome
Recurrent respiratory infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Ren... ORPHA:261494
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Splenomegaly ORPHA:1133
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Respiratory failure ORPHA:3226
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Mitochondrial Complex I Deficiency, Nuclear Type 32
Patent urachus, Respiratory failure, Death in childhood OMIM:618252
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Anomalous pulmonary venous return, Respiratory insufficiency ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
Immunodeficiency 96
Recurrent lower respiratory tract infections, Multicystic kidney dysplasia OMIM:619774
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Respiratory failure, Respiratory insufficiency OMIM:609015
Webb-Dattani Syndrome
Hydronephrosis, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria OMIM:615926
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Congenital Disorder Of Glycosylation, Type Iie
Neonatal asphyxia, Respiratory insufficiency, Splenomegaly, Death in infancy, Hydronephrosis, Neu... OMIM:608779
Riddle Syndrome
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Neonatal asphyxia, Bronchitis, Recurrent sinus... ORPHA:420741
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Neonatal respiratory distress ORPHA:457193
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Dextrocardia
Abnormal lung lobation, Abnormality of the ureter, Abnormality of the pulmonary artery, Abnormal ... ORPHA:1666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... ORPHA:79259
3C Syndrome
Recurrent respiratory infections, Death in infancy, Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter OMIM:620450
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia OMIM:609465
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Renal cyst, Respiratory failure, Pulmonary hypoplasia OMIM:615636
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Death in infancy, Hydronephrosis, Micropenis, Pulmonary lymphangiectasia, Hepatomegaly OMIM:235255
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis ORPHA:457212
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Granulomatosis With Polyangiitis
Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Renal insuffic... ORPHA:900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Neonatal respiratory distress, Death in childhood, Hydronephrosis, Hepatomegaly, A... OMIM:214100
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Death in infancy ORPHA:2315
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Neonatal respiratory distress, Dicarboxylic aciduria, Renal insufficiency, Cardi... ORPHA:228308
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia OMIM:619179
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary lymphangio... ORPHA:805
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Respiratory failure ORPHA:254528
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Respiratory failure, Neonatal death OMIM:616482
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Respiratory failure OMIM:620249
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ureterocele OMIM:614863
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Pulmonary hypoplasia ORPHA:85201
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Recurrent respiratory infections, ... OMIM:135900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney, R... ORPHA:2273
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Diphallia
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Rena... ORPHA:227
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Neurogenic bladder, Urinary incontinence, Respiratory failure, Respiratory f... ORPHA:496641
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph... OMIM:617913
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney, Bilateral trilobed lun... OMIM:306955
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Respiratory insufficiency, Renal cyst, Stillbirth, Pulmonary hypoplasia OMIM:616300
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes... ORPHA:70
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Relapsing Polychondritis
Atelectasis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:728
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Renal cyst, Dark urine ORPHA:79303
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Pulmonary hypop...