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Gene: Ano1 MGI:2142149

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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:
anoctamin 1, calcium activated chloride channel
Synonyms:
Tmem16a

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

The table below shows human diseases associated to Ano1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intestinal Dysmotility Syndrome
Failure to thrive, Diarrhea, Projectile vomiting, Weight loss OMIM:620045

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 urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
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
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly, Dysphagia OMIM:617055
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Failure to thrive, Cyanosis ORPHA:91130
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Short stature ORPHA:2901
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Cyanosis, Crazy paving pattern, Nonspecific interstitial pneumonia, Nodular pa... OMIM:610921
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Cachexia ORPHA:93941
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent ... OMIM:265120
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Calcif... ORPHA:3348
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intral... OMIM:610913
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Pneumothorax, Hypo... ORPHA:2257
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Preeclampsia
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney ORPHA:275555
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia, Acrocyanosis ORPHA:2400
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Asbestos Intoxication
Cyanosis, Lung adenocarcinoma, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial m... ORPHA:2302
Breath-Holding Spells
Cyanosis OMIM:607578
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Knee flexion con... ORPHA:284417
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... ORPHA:79126
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Congenital Pulmonary Lymphangiectasia
Growth delay, Pleural effusion, Cyanosis, Gastroesophageal reflux ORPHA:2414
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Ethylmalonic Encephalopathy
Failure to thrive, Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis, Weight loss ORPHA:1302
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Encephalopathy, Ethylmalonic
Acrocyanosis, Failure to thrive, Chronic diarrhea, Petechiae OMIM:602473
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis, Weight loss ORPHA:3165
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Keutel Syndrome
Recurrent respiratory infections, Short stature, Pulmonary artery stenosis, Calcification of cart... ORPHA:85202
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy OMIM:613404
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Failure to thrive, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Cyanosis ORPHA:91359
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia ORPHA:747
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Anomalous pulmonary venous return, Hypoxemia, Failure to thr... ORPHA:860
Congenital Tracheomalacia
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Tracheoesophageal f... ORPHA:95430
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Failure to thrive, Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, Aplasia/Hypoplasia of t... ORPHA:3309
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Double Outlet Right Ventricle
Cyanosis, Short stature, Abnormality of cartilage of external ear, Pulmonary artery atresia, Fail... ORPHA:3426
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Laryngotracheal Angioma
Cyanosis, Vomiting ORPHA:137935
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Growth delay OMIM:601427
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Small for gestational age, Failure to thrive in infan... ORPHA:1199
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Nasal polyposis, Ab... ORPHA:183
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Diarrhea, Erythema, Urticaria, ... ORPHA:343
Hurler-Scheie Syndrome
Recurrent respiratory infections, Short stature, Camptodactyly of finger, Thenar muscle atrophy, ... OMIM:607015
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Hypoadrenocorticism, Familial
Cyanosis, Vomiting OMIM:240200
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis, Gastroesophageal reflux OMIM:619793
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Weight loss, Elevated bronchoalveola... OMIM:608710
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Recurrent respiratory infections, Cyanosis ORPHA:2004
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Buerger Disease
Acrocyanosis ORPHA:36258
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy ORPHA:213
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... ORPHA:199241
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys OMIM:613845
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Vomiting ORPHA:464453
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Gastr... ORPHA:590
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Diarrhea, Jaundice, Enterocolitis, Vomiting, Decreased body ... ORPHA:90051
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Gastr... ORPHA:98914
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Congenital Tricuspid Valve Dysplasia
Cyanosis, Small for gestational age, Anomalous pulmonary venous return, Hypoxemia, Intrauterine g... ORPHA:555874
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Dysphagia OMIM:207950
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria ORPHA:330001
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... ORPHA:85450
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... ORPHA:60025
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Short stature, Pneumonia ORPHA:1867
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Papa Syndrome
Proteinuria ORPHA:69126
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Hsd10 Disease, Infantile Type
Cyanosis, Dysphagia ORPHA:391428
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Pendred Syndrome
Tracheal stenosis ORPHA:705
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation OMIM:620183
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy, Dysphagia ORPHA:488627
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Fucosidosis
Failure to thrive, Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Fabry Disease
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria OMIM:301500
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria OMIM:618886
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:36412
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty ORPHA:2326
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Dravet Syndrome
Cyanotic episode ORPHA:33069
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Cyanosis, Aortopulmonary window, Pulmonary h... ORPHA:99050
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Tracheoesophageal fistula, Pulmonary ... ORPHA:141127
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemothorax ORPHA:2038
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs ORPHA:3301
Ohdo Syndrome
Proteinuria OMIM:249620
Vacterl/Vater Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Trac... ORPHA:887
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... OMIM:242900
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Postnatal growth retardation, Failure to thrive, Rhizomelia OMIM:302960
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... OMIM:617303
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Disproportionate short stature, Truncal obesity, Tracheal steno... ORPHA:2637
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Gastroesophageal reflux, Vomiting, Recurrent lower respiratory tract infections, Failur... OMIM:618426
Complete Atrioventricular Septal Defect
Failure to thrive, Cyanosis, Recurrent pneumonia, Right ventricular hypertrophy ORPHA:1329
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Aicardi-Goutieres Syndrome 1
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Geleophysic Dysplasia 3
Tracheal stenosis, Short stature, Pneumonia OMIM:617809
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Proportionate short stature, Postnatal growth retardation, Pulm... ORPHA:79345
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur... ORPHA:411629
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Diarrhea, Growth delay, Gastroesophageal reflux, Constipa... OMIM:223900
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Left ventricular hypertrophy, Pulmonary artery dilata... ORPHA:99106
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections ORPHA:1790
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria ORPHA:549
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... OMIM:219800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia OMIM:619580
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... OMIM:232200
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis ORPHA:159
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Cyanosis, Ragged-red muscle fibers, Growth delay, Vomiting, Increased in... OMIM:252010
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Facial palsy, Vomiting, Nausea, Pulmonary edema ORPHA:31826
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Recurrent pneumoni... ORPHA:980
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Disproportionate short stature, Severe short stature ORPHA:93352
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Double Outlet Left Ventricle
Failure to thrive, Pulmonary artery stenosis, Cyanosis ORPHA:3427
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Myasthenic Syndrome, Congenital, 21, Presynaptic
Weakness of facial musculature, Cyanosis, Meconium ileus, Knee flexion contracture OMIM:617239
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Fraser Syndrome 3
Stillbirth, Abnormal lung lobation, Tracheal atresia OMIM:617667
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... OMIM:232220
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Vomiting, Pulmonary edema ORPHA:137675
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Systemic Sclerosis
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d... ORPHA:90291
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Familial Dysautonomia
Recurrent respiratory infections, Abnormal pleura morphology, Growth delay, Gastroesophageal refl... ORPHA:1764
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Poems Syndrome
Pleural effusion, Acrocyanosis, Weight loss ORPHA:2905
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... OMIM:232240
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema OMIM:261740
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Hydrolethalus
Tracheal atresia ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Pitt-Hopkins Syndrome
Postnatal growth retardation, Acrocyanosis, Growth delay, Constipation, Gastroesophageal reflux, ... ORPHA:2896
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... ORPHA:470
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria OMIM:610965
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Myasthenia Gravis
Myositis, Acrocyanosis, Dysphagia ORPHA:589
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Geleophysic Dysplasia 1
Short stature, Camptodactyly of finger, Tracheal stenosis, Joint contracture of the hand, Wrist f... OMIM:231050
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Weight loss, Hemosiderin-laden macrophages in bronch... OMIM:233450
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria ORPHA:90321
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Melas
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis ORPHA:550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, N... OMIM:187300
Igg4-Related Thyroid Disease
Tracheal stenosis, Dysphagia ORPHA:64744
Criss-Cross Heart
Cyanosis ORPHA:1461
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Cartilage-Hair Hypoplasia
Rhizomelia, Aplasia/Hypoplasia of the abdominal wall musculature, Disproportionate short-limb sho... ORPHA:175
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Gastrointestinal inflammation, Weight loss, Vasculi... ORPHA:48435
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Neuroleptic Malignant Syndrome
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence ORPHA:94093
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Elbow contracture, Ulcerative colitis, Gastroesophageal r... OMIM:617137
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Failure to thrive, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Craniofacioskeletal Syndrome
Tracheal stenosis, Intrauterine growth retardation, Short stature OMIM:300712
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Short stature, Congenital diaphragmatic hernia, Rhizomelia, Abnormal lung lobati... ORPHA:818
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:79240
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... ORPHA:324
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria OMIM:619471
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury ORPHA:90068
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Familial Mediterranean Fever
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:342
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:264580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Short stature, Recurrent upper respiratory tract infections, Obesity, Delayed puberty, ... ORPHA:293987
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob... ORPHA:91500
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Intestinal Dysmotility Syndrome
Failure to thrive, Diarrhea, Projectile vomiting, Weight loss OMIM:620045
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... ORPHA:79259
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis ORPHA:900
Holoprosencephaly
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria ORPHA:2162
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Larsen Syndrome
Tracheal stenosis, Intrauterine growth retardation, Short stature OMIM:150250
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Delayed menarche, Weight loss, Severe failure to t... ORPHA:740
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Short stature ORPHA:163979
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Tracheal stenosis, Intrauterine growth retardation, Agenesis ... OMIM:236680
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury ORPHA:90038
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Short stature, Prolonged neonatal jaundic... ORPHA:51
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis, Aortopulmonary window ORPHA:2299
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy, Calcification of the auricular cartilage, Myocardial calc... ORPHA:51608
Infection-Related Hemolytic Uremic Syndrome
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output ORPHA:544482
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... ORPHA:904
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Fragile skin, Chronic constipation, Gastroesopha... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Failure to thrive, Cyanosis ORPHA:216694
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Short stature, Decreased body weight OMIM:303600
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Aortopulmonary window ORPHA:97214
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Fraser Syndrome
Tracheal stenosis, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Constipation, Gastroesophageal reflux, Acro... ORPHA:285
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria OMIM:619525
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Short stature, Pulmonary artery sling, Bowel incontinence, Flexion contracture... ORPHA:261537
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Mowat-Wilson Syndrome
Short stature, Pulmonary artery sling, Bowel incontinence, Flexion contracture, Enterocolitis, Gr... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Short stature, Pulmonary artery sling, Bowel incontinence, Flexion contracture... ORPHA:261552
Pmm2-Cdg
Nephrotic syndrome, Abnormal renal tubule morphology, 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 7 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 PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Ano10tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ano10tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ano10tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ano10tm1a(EUCOMM)Wtsi PMC5827107
Role of Ca(2+) in the Stability and Function of TMEM16F and 16K. Biochemistry (June 2016) Ano10tm1a(EUCOMM)Wtsi 27227820

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ano1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ano1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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