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Gene: Wwtr1 MGI:1917649

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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:
WW domain containing transcription regulator 1
Synonyms:
TAZ,  transcriptional coactivator with PDZ binding motif,  2310058J06Rik,  2610021I22Rik

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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 Wwtr1 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 Wwtr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i... ORPHA:2111
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... OMIM:618913
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, ... OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
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
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Autosomal Recessive Spastic Paraplegia Type 70
Nephrotic syndrome, Abnormal pulmonary interstitial morphology ORPHA:401835
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Emphysema, Hepatitis, Hepatomegaly ORPHA:60
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul... OMIM:612387
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br... OMIM:613490
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary... OMIM:616414
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Renal cell carcinoma, Pulmonary sequestration ORPHA:122
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... OMIM:615993
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... OMIM:263200
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome... ORPHA:36412
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Aminoaciduria, Eryth... ORPHA:634
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Hematur... ORPHA:90060
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Hypersensitivity pneum... ORPHA:1163
Alport Syndrome
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... ORPHA:63
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... OMIM:617056
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Pulmonary cyst, Enlarged kidney OMIM:618272
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical ... OMIM:231680
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen... ORPHA:3033
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Erysipelas, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:615704
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:210136
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis, Unilateral re... ORPHA:52047
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Hereditary Mucoepithelial Dysplasia
Hematuria, Recurrent respiratory infections, Pulmonary fibrosis, Abnormality of the bladder ORPHA:1839
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly,... ORPHA:47612
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortica... OMIM:611555
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren... OMIM:243910
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT... OMIM:614742
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Meckel Syndrome 13
Flexion contracture, Ataxia, Polycystic kidney dysplasia OMIM:617562
Lessel-Kubisch Syndrome
Hypogonadism, Renal insufficiency, Short stature, Renal hypoplasia OMIM:618681
Senior-Loken Syndrome
Premature ovarian insufficiency, Short stature, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:3156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:567548
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Renal cyst, Epiphyseal stippling OMIM:614870
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, P... OMIM:184260
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
2p15-16.1 microdeletion syndrome
Feeding difficulties in infancy, Camptodactyly of finger, Hydronephrosis DECIPHER:70
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic ren... OMIM:615415
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Dyspnea, Abnormal pulmonary interst... OMIM:607616
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... ORPHA:251004
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, P... OMIM:242700
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... OMIM:608971
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu... OMIM:618394
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Glycogen Storage Disease Iv
Hepatosplenomegaly, Failure to thrive, Arthrogryposis multiplex congenita, Tubulointerstitial fib... OMIM:232500
Polymyositis
Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency... ORPHA:732
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Dyspnea, Oliguria, Arthritis, Pulmonary fibrosis, Pulmonary arterial hyperte... ORPHA:220393
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstit... ORPHA:79259
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... ORPHA:538
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Rhyns Syndrome
Osteopenia, Multicystic kidney dysplasia, Abnormality of body height, Nephronophthisis ORPHA:140976
Mixed Connective Tissue Disease
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Dyspnea, Myocarditis, A... ORPHA:809
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia ORPHA:3032
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged kidney OMIM:314390
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Retrograde ejaculation, Hashimoto thyroidi... ORPHA:49041
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Gr... OMIM:232200
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Renal cortical cysts, Feeding difficulties, Erythroderma OMIM:609180
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Multiple lipomas,... OMIM:135150
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Pulmonary fibrosis ORPHA:457240
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Death in childhood OMIM:609528
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea, Joint hyperflexibil... ORPHA:3375
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... ORPHA:90117
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... ORPHA:81
Peroxisome Biogenesis Disorder 3A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Poor suck, Polycystic kidney dysplasia OMIM:614859
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis OMIM:269840
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... OMIM:619632
Microlissencephaly
Pneumonia ORPHA:1083
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... OMIM:616733
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Renal Tubular Dysgenesis
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... OMIM:267430
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... OMIM:612444
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Recurrent respiratory infections, Emphysema OMIM:219100
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Proteinuria, Recurrent bron... OMIM:617303
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Chronic ... ORPHA:900
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Interstitial Lung And Liver Disease
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial m... OMIM:615486
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithi... OMIM:232220
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Iridocyclitis, Bronchiectasis, Abnormal pulmonary... OMIM:181000
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Epistaxis, Restrictive ventilatory defect, Inflammation of the large intesti... OMIM:203300
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Ureteral atresi... OMIM:208540
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Nephronophthisis
Renal insufficiency ORPHA:655
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Dyspnea, Abnormal pulmonary interstitial ... ORPHA:35687
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder divert... OMIM:613177
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom... ORPHA:2924
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephr... ORPHA:330001
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorch... ORPHA:97362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Hepatomegaly, Chronic mucocutaneous candidiasis, Hepatosplenome... ORPHA:79124
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchiectasis, Restrictive ventilator... ORPHA:1572
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Dent Disease 1
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... OMIM:300009
Fanconi Anemia, Complementation Group O
Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... OMIM:613390
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Rigid Spine Syndrome
Waddling gait, Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexi... ORPHA:97244
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy OMIM:275300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Dilatation of the renal pelvis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee f... OMIM:619708
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint laxity, Disproportionate tall stature, Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... ORPHA:449395
Hermansky-Pudlak Syndrome 4
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia... ORPHA:314588
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Mpdu1-Cdg
Feeding difficulties, Eczema, Renal cortical cysts, Nasogastric tube feeding ORPHA:79323
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific... OMIM:300554
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine growth retardation, Micropenis, F... OMIM:613861
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... OMIM:607944
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Tetraploidy
Aplasia/Hypoplasia of the lungs, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... ORPHA:209905
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Congenital Myopathy 19
Respiratory insufficiency due to muscle weakness, Renal atrophy, Respiratory insufficiency, Conge... OMIM:618578
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:614091
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Respiratory insufficiency, Multiple renal cysts, Vesicoureteral reflux,... ORPHA:1166
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Dyspnea, Hepatosplenomegaly,... ORPHA:464329
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death... OMIM:236500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Systemic Capillary Leak Syndrome
Renal insufficiency, Pulmonary edema, Pericarditis, Rhinorrhea, Myocarditis, Oliguria, Cardioresp... ORPHA:188
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... OMIM:614455
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea, Hepatomegaly, Lo... OMIM:608836
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma OMIM:619510
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:85285
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... OMIM:109130
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... ORPHA:90291
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... ORPHA:1692
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Macdermot-Winter Syndrome
Death in infancy, Hydronephrosis OMIM:247990
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti... ORPHA:397715
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Restrictive ventilatory defect, Pulmonary fibrosis OMIM:619767
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Decreased DLCO, Urethral stenosis, Pulmonary fibrosis OMIM:613990
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased body weight, Increased total bilirubin ORPHA:890
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Dyspnea, Inability to walk, Reye syndrome-li... ORPHA:26791
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Pulmonary fi... OMIM:612852
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... OMIM:300991
Meacham Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardiac total anom... OMIM:608978
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust... ORPHA:29207
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Short stature, R... OMIM:613388
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colon... OMIM:617638
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,... ORPHA:90349
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis OMIM:615996
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Splenomegaly, Respiratory insuffic... OMIM:607625
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic ... OMIM:610188
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia ORPHA:1745
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentrati... OMIM:154230
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Osteolysis involvin... OMIM:166300
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
H Syndrome
Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Recurrent fractures, Sh... ORPHA:168569
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Pustule, Tachypnea, Pulmonary fibrosis, Pu... OMIM:615934
Say Syndrome
Short stature, Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:157
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Jeune Syndrome
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis ORPHA:474
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Displacement of... ORPHA:2377
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... ORPHA:731
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k... OMIM:200995
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Gout ORPHA:510
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Senior-Loken Syndrome 9
Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ... OMIM:616629
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Unsteady gait, Feeding difficulties, Al... OMIM:214100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi... ORPHA:1475
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos... ORPHA:99879
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Chronic pulmonary obstruction, Respira... ORPHA:324
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting OMIM:618314
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absenc... OMIM:120330
Meckel Syndrome 14
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:619879
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Renal agenesis, Short stature, Renal h... OMIM:615583
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:620235
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... OMIM:615767
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Test... ORPHA:281090
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Multiple renal cysts, Renal cyst OMIM:614883
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m... OMIM:620233
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... ORPHA:662
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr... OMIM:617872
Joubert Syndrome 20
Inability to walk, Respiratory insufficiency, Renal cyst OMIM:614970
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve... ORPHA:66637
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Death in adolescence, Proximal tubulopathy, Death in childhood OMIM:560000
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome... ORPHA:228308
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Femoral-Facial Syndrome
Inguinal hernia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycysti... ORPHA:1988
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Joubert Syndrome 18
Joint laxity, Renal cyst, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation OMIM:614815
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Retinal Dystrophy And Microvillus Inclusion Disease
Death in infancy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Rajab Interstitial Lung Disease With Brain Calcifications 2
Cough, Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Hepatosplenome... OMIM:619013
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Lipod... OMIM:619858
Neonatal Alloimmune Neutropenia
Miscarriage, Pneumonia ORPHA:464370
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst ORPHA:2668
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pulmonary fibrosis OMIM:613989
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... ORPHA:324525
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyuria, Recurrent upper respiratory tract infections, Pleural effusion, Renal... OMIM:618183
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Type 1 Diabetes Mellitus
Polyuria OMIM:222100
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Abnorm... ORPHA:1834
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Neonatal... OMIM:300219
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... OMIM:194080
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... OMIM:607594
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Sarcoidosis
Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Cough, Emphyse... ORPHA:797
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Apnea, Aminoaciduria, Polycystic kidney dysplasia, Death in childhood OMIM:214110
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Short stature, Elevated circulating C-reactive prot... OMIM:191900
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Tachypnea, Hypercalciuria, Amin... OMIM:239200
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Apparent Mineralocorticoid Excess
Renal insufficiency, Left ventricular hypertrophy, Short stature, Abnormal urine sodium concentra... ORPHA:320
Rhyns Syndrome
Osteopenia, Renal insufficiency, Short stature, Chronic kidney disease, Osteoporosis, Nephronopht... OMIM:602152
Bone Marrow Failure Syndrome 5
Pulmonary fibrosis OMIM:618165
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... OMIM:223900
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly OMIM:619126
Immunodeficiency 52
Death in infancy, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Death in childhood, Chronic ... OMIM:617514
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus OMIM:614816
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Mckusick-Kaufman Syndrome
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... OMIM:236700
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephr... ORPHA:18
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... ORPHA:805
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurre... ORPHA:397596
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, Respiratory... OMIM:618278
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... ORPHA:85443
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... ORPHA:505248
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma OMIM:607271
Microphthalmia, Syndromic 9
Renal malrotation, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Renal hypoplasia,... OMIM:601186
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... ORPHA:411543
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... ORPHA:542323
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Rickets, Renal tubular dysfunction, Hypokalemia,... ORPHA:213
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ... OMIM:614922
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumon... ORPHA:781
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr... OMIM:614376
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Thrombotic Thrombocytopenic Purpura, Hereditary