Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
anoctamin 1, calcium activated chloride channel
Synonyms:
Tmem16a

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Ano1 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 Ano1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Cyanosis, Bronchial wall thickeni... OMIM:610921
Cholesterol Pneumonia
Tachypnea, Cyanosis, Pneumonia, Cough OMIM:215030
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Calcification of cartilage, Exertional dyspnea... ORPHA:3348
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress, Failure to thrive ORPHA:91130
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Short stature, Respiratory insufficiency ORPHA:2901
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Laryngomalacia, Cachexia, Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Severe short stature OMIM:302000
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Phenylketonuria
Aminoaciduria ORPHA:716
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2668
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Growth delay, Pulmo... ORPHA:2414
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Alport Syndrome 2, Autosomal Recessive
Hematuria, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Stag... OMIM:203780
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Keutel Syndrome
Calcification of cartilage, Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pul... ORPHA:85202
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode, Depressed nasal bridge, Knee flexion contracture,... ORPHA:284417
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay, Joint contracture of the 5th finger, Failure to thrive, Prominent nose OMIM:614407
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Failure to thrive, Short stature, Pulmonary artery atre... ORPHA:3426
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Nephrotic Syndrome, Type 11
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:616730
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Atelectasis, Narrow nasal bridge ORPHA:896
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:375
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge ORPHA:2321
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Nasal polyposis, Cough, Weight loss, Recurrent... ORPHA:183
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Alport Syndrome 3, Autosomal Dominant
Hematuria, Thickened glomerular basement membrane, Glomerulonephritis, Glomerular basement membra... OMIM:104200
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Tetrasomy 5P
Short nose, Respiratory distress, Postnatal growth retardation, Wide nasal bridge, Pulmonary hypo... ORPHA:3309
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Failure to thrive, Respiratory failu... ORPHA:444013
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Small for ... ORPHA:555874
Breath-Holding Spells
Cyanosis OMIM:607578
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema, Weight loss ORPHA:3165
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Hurler-Scheie Syndrome
Short stature, Tracheal stenosis, Pulmonary arterial hypertension, Obstructive sleep apnea, Recur... OMIM:607015
Chops Syndrome
Short nose, Laryngomalacia, Chronic lung disease, Aspiration pneumonia, Short stature, Tracheal s... OMIM:616368
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Hemothorax, Cough, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Abn... ORPHA:1199
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Respiratory arrest, Arthrogryposis multiplex congenita, Stridor, Su... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Respiratory arrest, Arthrogryposis multiplex congenita, Stridor, Su... ORPHA:98914
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Growth delay, Pneumonia, Short stature ORPHA:1867
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Anomal... ORPHA:141127
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria OMIM:618347
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Thickened glomerular basement membrane, Nephropathy, Glomer... OMIM:308940
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Growth delay, Exertional dyspnea OMIM:250800
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Galloway-Mowat Syndrome 7
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:618348
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Tracheal stenosis OMIM:601427
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis, Wide nasal bridge ORPHA:3304
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Pendred Syndrome
Respiratory insufficiency, Tracheal stenosis ORPHA:705
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left ventricular hypertrophy, Failure ... ORPHA:99106
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Buerger Disease
Acrocyanosis ORPHA:36258
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Exercise-induce... ORPHA:368
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... ORPHA:1329
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Hypercalciuria, ... OMIM:300554
Oligomeganephronia
Decreased numbers of nephrons, Unilateral renal agenesis, Abnormality of medullary pyramid morpho... ORPHA:2260
Ebola Hemorrhagic Fever
Renal insufficiency, Proteinuria ORPHA:319218
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... OMIM:256550
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Pulmonary edema, Myopathy OMIM:261740
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfunction, Nephroli... OMIM:277900
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria OMIM:171420
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... OMIM:220110
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Glomerular sclerosis, Decreased glomerular filt... ORPHA:93126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ... ORPHA:436271
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Decreased body we... ORPHA:90051
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral renal age... ORPHA:411709
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Short nose, Proportionate short stature, Respiratory failure requiring as... ORPHA:79345
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Cystinosis
Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria OMIM:210550
Kallmann Syndrome-Heart Disease Syndrome
Growth delay, Pulmonary artery hypoplasia, Delayed puberty, Short stature, Cyanosis ORPHA:2326
Dermatomyositis
Acrocyanosis, Pulmonary fibrosis, Diffuse reticular or finely nodular infiltrations, Weight loss,... ORPHA:221
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis, Limb muscle weakness OMIM:207950
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:330001
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Weight loss, Respiratory insuffic... ORPHA:2905
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia, Hand muscle atrophy, Cyanosis, Upper limb muscle weakness ORPHA:1136
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass, Failure to thrive ORPHA:349
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Cryoglobulinemic Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:91138
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... OMIM:277400
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhage, Cyanosis, B... ORPHA:335
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Underdeveloped nasal alae, Wide nasal bridge, Laryngomalacia, Tru... ORPHA:2637
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short stature, Severe short stature, Laryngeal stenosis, Upper airway obstructio... ORPHA:93352
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Tarp Syndrome
Apnea, Wide nasal bridge, Pulmonary hypoplasia, Failure to thrive, Intrauterine growth retardatio... ORPHA:2886
Fraser Syndrome 3
Tracheal atresia, Wide nose, Abnormal lung lobation OMIM:617667
Pediatric Systemic Lupus Erythematosus
Hematuria, Dark urine, Abnormality of the urinary system, Nephrotic syndrome, Renal insufficiency... ORPHA:93552
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Myoglobinuria ORPHA:713
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal renal physiology, Proteinuria OMIM:274150
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Aplasia/Hypoplasia... ORPHA:3301
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Tracheal calcification, Failure to thrive, Tracheal stenosis OMIM:302960
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:242900
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Growth delay, Erythema, Urticaria ORPHA:343
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Histiocytoid Cardiomyopathy
Cough, Laryngeal web, Pulmonary edema, Failure to thrive, Tachypnea, Cyanosis ORPHA:137675
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:36412
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Tubulointerstitial nephritis, Chronic kidney disease, Nephr... ORPHA:488627
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Growth delay, Recurrent infections due to aspir... OMIM:223900
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Pulmonary edema, Abnormal pattern of respiration, Ta... ORPHA:31826
Vacterl/Vater Association
Laryngomalacia, Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Tracheal stenos... ORPHA:887
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Growth delay, Recurrent respiratory infections ORPHA:1764
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Renal duplicati... ORPHA:33001
Fabry Disease
Lipiduria, Renal insufficiency, Urinary mulberry cells, Proteinuria OMIM:301500
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Anteverted nares, Growth delay, Postnatal growth retardation, Failure ... ORPHA:2896
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:86818
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:2715
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
Hypomandibular Faciocranial Dysostosis
Short nose, Laryngeal hypoplasia, Abnormal tracheobronchial morphology, Tracheal stenosis, Anteve... ORPHA:1790
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Nephrotic syndrome, N... OMIM:617303
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hypoventilation, Cardiorespiratory arrest, Recurrent upper respiratory t... ORPHA:293987
Ohdo Syndrome
Proteinuria OMIM:249620
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Intra... ORPHA:3384
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Pheochromocytoma
Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... ORPHA:340
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Galloway-Mowat Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:2065
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Dravet Syndrome
Cyanotic episode ORPHA:33069
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Pulmonary arterial hypertens... OMIM:187300
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Urinary urgency, Proteinuria ORPHA:556
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Pulmonary arteriovenous malformation, S... OMIM:610655
Majeed Syndrome
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:77297
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:228308
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617729
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hyp... OMIM:616749
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Nephro... OMIM:232220
Al Amyloidosis
Albuminuria, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Renal interstiti... ORPHA:85443
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insuff... OMIM:232240
Geleophysic Dysplasia 1
Camptodactyly of finger, Short nose, Wrist flexion contracture, Joint contracture of the hand, Tr... OMIM:231050
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Myasthenia Gravis
Acrocyanosis, Myositis, Dyspnea ORPHA:589
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Hydrolethalus
Tracheal atresia, Laryngomalacia ORPHA:2189
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Proteinuria, Nephrotic syndrome OMIM:212065
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria ORPHA:1018
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Hypospadias OMIM:619147
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
Renal insufficiency, Micropenis, Proteinuria, Chordee OMIM:300519
Cartilage-Hair Hypoplasia
Rhizomelia, Respiratory insufficiency, Wide nasal bridge, Failure to thrive, Tracheal stenosis, A... ORPHA:175
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Thickened glomerular basement membrane, Stage 5 chronic kid... ORPHA:2614
Systemic Sclerosis
Acute kidney injury, Albuminuria, Glomerulonephritis, Chronic kidney disease, Renal insufficiency... ORPHA:90291
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria OMIM:222448
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Choanal atresia, Short stature, Tracheal stenosis, Intrauterine grow... OMIM:300712
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Camptodactyly, Subglottic stenosis, Wide nasal bridge, Delayed puberty, Tr... OMIM:617137
Larsen Syndrome
Tracheomalacia, Short stature, Tracheal stenosis, Intrauterine growth retardation, Bronchomalacia... OMIM:150250
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Pulmonary arte... OMIM:600376
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress, Failure to thrive OMIM:306955
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sc... OMIM:251300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Cystinosis, Nephropathic
Generalized aminoaciduria, Polyuria, Glycosuria, Microscopic hematuria, Stage 5 chronic kidney di... OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Renal cyst, Renal insufficiency, Nephritis, Proteinuria OMIM:208500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Underdeveloped nasal alae, Choanal atresia, Respiratory insufficiency, Short stature, Tracheal st... ORPHA:163979
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... ORPHA:470
Lymphatic Filariasis
Urethral obstruction, Hematuria, Glomerulonephritis, Nephrotic syndrome, Abnormality of the kidne... ORPHA:2035
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria ORPHA:85448
Melas
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis ORPHA:550
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria OMIM:609015
Gitelman Syndrome
Focal segmental glomerulosclerosis, Nocturia, Renal potassium wasting, Enuresis, Urinary incontin... ORPHA:358
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth, Laryngeal hypoplasia, Intrauterine growth retardation, Tra... OMIM:236680
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial anomalous pulmonary venous return OMIM:617478
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Coffin-Lowry Syndrome
Acrocyanosis, Decreased body weight, Cutis marmorata, Short stature, Anteverted nares, Wide nose OMIM:303600
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Acute kidney injury, Myoglobinuria ORPHA:94093
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria OMIM:616878
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Hemoglobinuria ORPHA:447
Smith-Lemli-Opitz Syndrome
Rhizomelia, Growth delay, Abnormality of the larynx, Choanal atresia, Wide nasal bridge, Tracheal... ORPHA:818
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata, Failure to thrive ORPHA:416
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:370
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Abnormality of the upper urinary tract, Renal tubula... ORPHA:99885
Immunoglobulin A Vasculitis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:761
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Fabry Disease
Abnormal renal tubule morphology, Hematuria, Nephropathy, Glomerulopathy, Nephrotic syndrome, Ren... ORPHA:324
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal tubular atrophy, ... OMIM:614748
Cocaine Intoxication
Hematuria, Acute kidney injury, Glomerulonephritis, Tubulointerstitial nephritis, Proteinuria ORPHA:90068
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Aort... ORPHA:97214
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Hydronephrosis, Ureteral stenosis, Renal insufficiency, Proteinuria ORPHA:900
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Multiple joint contractures, Cutis marmorata, Short st... ORPHA:51
Holoprosencephaly
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Renal Fanconi ... OMIM:309000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Stage 5 chronic kidney disease, Nephrocalcinosis, N... ORPHA:79259
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... ORPHA:91500
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Pearson Syndrome
Lacticaciduria, Glycosuria, Renal cyst, Renal insufficiency, Proteinuria ORPHA:699
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Relapsing Polychondritis
Renal insufficiency, Glomerulopathy, Hematuria, Proteinuria ORPHA:728
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Hemoglobinuria, Acute kidney injury ORPHA:90038
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Fraser Syndrome
Midline nasal groove, Underdeveloped nasal alae, Subglottic stenosis, Laryngeal stenosis, Wide na... ORPHA:2052
Generalized Arterial Calcification Of Infancy
Respiratory distress, Myocardial calcification, Failure to thrive in infancy, Calcification of th... ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis, Failure to thrive ORPHA:216694
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output ORPHA:544482
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Focal segmental glomerulosclerosis OMIM:619127
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture, Apnea ORPHA:285
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Camptodactyly, Flexion contracture, Wide nasal bridge, Failure to thrive,... ORPHA:261537
Mowat-Wilson Syndrome
Pulmonary artery sling, Camptodactyly, Flexion contracture, Growth delay, Decreased body weight, ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Camptodactyly, Flexion contracture, Wide nasal bridge, Failure to thrive,... ORPHA:261552
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Multiple renal cysts, Proteinuria ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ano1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ano1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TMEM16K is an interorganelle regulator of endosomal sorting. Nature communications (July 2020) Ano10tm1a(EUCOMM)Wtsi PMC7335067
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ano10tm1a(EUCOMM)Wtsi