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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intestinal Dysmotility Syndrome
Diarrhea, Weight loss, Failure to thrive, Projectile vomiting 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
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Recurrent respir... ORPHA:3347
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis, Neonatal death OMIM:601612
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Perching Syndrome
Camptodactyly, Dysphagia, Cyanosis, Joint contracture OMIM:617055
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Myopathy ORPHA:91130
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Cyanosis, Type II pneumocyte hyp... OMIM:263000
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Calcification of cartilage, Tracheal ste... ORPHA:3348
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Cachexia, Tracheoesophageal fistula ORPHA:93941
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Ortho... ORPHA:2032
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Neuralgic Amyotrophy
Upper limb muscle weakness, Scapular winging, Short stature, Acrocyanosis, Upper limb amyotrophy ORPHA:2901
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Failure to thrive,... OMIM:610913
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Failure to thrive, Abnormal hemidiaphragm morphology, Intra... ORPHA:2257
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Keutel Syndrome
Calcification of cartilage, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Sho... ORPHA:85202
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Growth delay, Cyanosis, Pleural effusion ORPHA:2414
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy, Achalasia ORPHA:2400
Cryptogenic Organizing Pneumonia
Hypoxemia, Weight loss, Pneumothorax, Cyanosis ORPHA:1302
Breath-Holding Spells
Cyanosis OMIM:607578
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Ethylmalonic Encephalopathy
Petechiae, Diarrhea, Acrocyanosis, Failure to thrive ORPHA:51188
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Failure to thrive in infancy, Intrauterine growth retardation, Knee fl... ORPHA:284417
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Encephalopathy, Ethylmalonic
Petechiae, Chronic diarrhea, Acrocyanosis, Failure to thrive OMIM:602473
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Growth delay OMIM:601427
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Tracheal stenosis, Localized pulmonary hemo... OMIM:608710
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Weight loss, Hypoxemia ORPHA:747
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Eosinophilic Fasciitis
Myositis, Muscular edema, Weight loss, Acrocyanosis ORPHA:3165
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Hurler-Scheie Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Tracheal stenosis, Contracture of the ... OMIM:607015
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Failure to thrive ORPHA:91359
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure to thrive ORPHA:444013
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Right ventricular hypertrophy, Cyanosis, Hypoxemia,... ORPHA:860
Tetrasomy 5P
Failure to thrive, Postnatal growth retardation, Cyanosis, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Esophageal Atresia
Gastroesophageal reflux, Vomiting, Bronchitis, Failure to thrive in infancy, Esophagitis, Cyanosi... ORPHA:1199
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... ORPHA:275555
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Growth delay, Failure to thrive OMIM:614407
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney ORPHA:369
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Abnormality of cartilage of external ear, Short stature, Pulmonary a... ORPHA:3426
Laryngotracheal Angioma
Vomiting, Cyanosis ORPHA:137935
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation OMIM:620183
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Gastroesophageal reflux, Abnormal pleura morphology, Cutis marmorata, Intestinal... ORPHA:183
Pendred Syndrome
Tracheal stenosis ORPHA:705
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis, Impaired oropharyngeal swallow response ORPHA:2004
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria OMIM:301108
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Diarrhea, Growth delay, Recurrent aphthous stomatitis, Int... ORPHA:343
Restrictive Dermopathy 2
Intrauterine growth retardation, Gastroesophageal reflux, Cyanosis OMIM:619793
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Hypoadrenocorticism, Familial
Vomiting, Cyanosis OMIM:240200
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Intrauterine growth retardation, Right ventricular hypertrophy, Cyanos... ORPHA:555874
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Acquired Methemoglobinemia
Vomiting, Hypoxemia, Cyanosis ORPHA:464453
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Necrotizing Enterocolitis
Diarrhea, Vomiting, Bloody diarrhea, Cyanosis, Peritonitis, Small for gestational age ORPHA:391673
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Gastroesophageal reflux, Muscle fiber atro... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Gastroesophageal reflux, Muscle fiber atro... ORPHA:98914
Sepsis In Premature Infants
Diarrhea, Vomiting, Petechiae, Cyanosis, Decreased body weight, Enterocolitis, Jaundice, Purpura,... ORPHA:90051
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Chiari Malformation Type Ii
Dysphagia, Limb muscle weakness, Cyanosis OMIM:207950
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Hereditary Bullous Dystrophy, Macular Type
Short stature, Acrocyanosis, Pneumonia, Growth delay ORPHA:1867
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Papa Syndrome
Proteinuria ORPHA:69126
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Vacterl/Vater Association
Tracheal stenosis, Intrauterine growth retardation, Congenital diaphragmatic hernia, Tracheoesoph... ORPHA:887
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Geleophysic Dysplasia 3
Short stature, Tracheal stenosis, Pneumonia OMIM:617809
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Postnatal growth retardation, Rhizomelia, Failure to thrive OMIM:302960
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Tracheal stenosis, Intrauterine growth retardation, Truncal obesi... ORPHA:2637
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysphagia, Cyanosis ORPHA:488627
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Postnatal growth retardation, Tracheal stenosis, Proportionate short sta... ORPHA:79345
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis, Camptodactyly of finger ORPHA:896
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections ORPHA:1790
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Wild Type Attr Amyloidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria ORPHA:330001
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Fucosidosis
Vascular skin abnormality, Acrocyanosis, Failure to thrive, Decreased muscle mass ORPHA:349
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... ORPHA:141127
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Tracheal stenosis, Disproportionate short stature ORPHA:93352
Fabry Disease
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency OMIM:301500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Anomalous origin of right pulmonary artery from ascending aorta, Anomalous ori... ORPHA:99050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Dravet Syndrome
Cyanotic episode ORPHA:33069
Fraser Syndrome 3
Tracheal atresia, Stillbirth, Abnormal lung lobation OMIM:617667
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis, Delayed puberty, Short stature, Growth delay ORPHA:2326
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury OMIM:618886
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Ohdo Syndrome
Proteinuria OMIM:249620
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Growth delay, Gastroesophageal reflux, Vomiting, Recurrent infections due to aspiration... OMIM:223900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Vomiting, Gastroesophageal reflux, Failure to thrive, Cyanosis, Recurrent lower respiratory tract... OMIM:618426
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Right ventricular hypertrophy, Failure to thrive ORPHA:1329
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr... OMIM:617303
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Failure to thrive, Cyanosis, Left ventricular hypertrophy, Recurrent... ORPHA:99106
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Hydrolethalus
Tracheal atresia ORPHA:2189
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Majeed Syndrome
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:77297
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... ORPHA:91139
Legionnaires Disease
Hematuria, Proteinuria, Renal insufficiency ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Prolonged neonatal jaundice, Short stature, Acrocyanosis, Purpura OMIM:225750
Renal Nutcracker Syndrome
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Mitochondrial Complex I Deficiency, Nuclear Type 1
Vomiting, Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Cyanosis, Increas... OMIM:252010
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal hemidiaphragm morphology, Cyanosis, Pulmonary edema, Hypocapnia, Re... ORPHA:980
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Ethylene Glycol Poisoning
Vomiting, Cyanosis, Pulmonary edema, Gastritis, Nausea, Facial palsy ORPHA:31826
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Cyanosis OMIM:619580
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis ORPHA:159
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Double Outlet Left Ventricle
Cyanosis, Pulmonary artery stenosis, Failure to thrive ORPHA:3427
Tarp Syndrome
Cyanosis, Intrauterine growth retardation, Failure to thrive, Pulmonary hypoplasia ORPHA:2886
Igg4-Related Thyroid Disease
Tracheal stenosis, Dysphagia ORPHA:64744
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria ORPHA:1018
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Histiocytoid Cardiomyopathy
Pulmonary edema, Cyanosis, Vomiting, Failure to thrive ORPHA:137675
Cartilage-Hair Hypoplasia
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Tracheal stenosis, Apla... ORPHA:175
Poems Syndrome
Acrocyanosis, Weight loss, Pleural effusion, Plethora ORPHA:2905
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Cyanosis, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote... ORPHA:505248
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Martin-Probst Syndrome
Proteinuria, Chordee, Renal insufficiency, Micropenis OMIM:300519
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Familial Dysautonomia
Gastroesophageal reflux, Growth delay, Abnormal pleura morphology, Recurrent respiratory infectio... ORPHA:1764
Geleophysic Dysplasia 1
Laryngotracheal stenosis, Joint contracture of the hand, Camptodactyly of finger, Tracheal stenos... OMIM:231050
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Lymphatic Filariasis
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... ORPHA:2035
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Myopathy, Pulmonary edema, Macroglossia OMIM:261740
Dermatomyositis
Erythema, Shawl sign, V-sign, Inflammatory myopathy, Acrocyanosis, Lung adenocarcinoma, Myositis,... ORPHA:221
Craniofacioskeletal Syndrome
Short stature, Intrauterine growth retardation, Tracheal stenosis OMIM:300712
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Nephrotic syndrome, Proximal tubulopathy, Renal cyst OMIM:212065
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Decreased muscle mass, Elbow contracture, Tracheal stenosis, Hip contrac... OMIM:617137
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury ORPHA:244242
Smith-Lemli-Opitz Syndrome
Rhizomelia, Gastroesophageal reflux, Abnormal lung lobation, Intrauterine growth retardation, Tra... ORPHA:818
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Cyanosis, A... ORPHA:3384
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Growth delay, Failure to thrive, Postnatal growth retardation, Esophagit... ORPHA:2896
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency OMIM:610965
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst OMIM:208500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hematochezia, Gastrointestinal hemorrhage, Tongue telangiectasia, Nail bed telangiectasia, Pulmon... OMIM:187300
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... OMIM:600376
Cockayne Syndrome Type 1
Proteinuria, Renal insufficiency ORPHA:90321
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Myasthenia Gravis
Myositis, Acrocyanosis, Dysphagia ORPHA:589
Larsen Syndrome
Short stature, Intrauterine growth retardation, Tracheal stenosis OMIM:150250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Melas
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy ORPHA:550
Criss-Cross Heart
Cyanosis ORPHA:1461
Adult-Onset Still Disease
Proteinuria ORPHA:829
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cutis marmorata, Weight loss, Gastrointestinal inflammation, Vasculi... ORPHA:48435
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Tracheal stenosis ORPHA:163979
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Decreased urin... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury ORPHA:94093
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return, Failure to thrive OMIM:306955
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Hydrolethalus Syndrome 1
Abnormal lung lobation, Tracheal stenosis, Intrauterine growth retardation, Agenesis of the diaph... OMIM:236680
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio... OMIM:610655
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis OMIM:619471
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:79240
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Obesity, Cyanosis, Delayed puberty, Short stature, ... ORPHA:293987
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... ORPHA:91500
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Renal tubular acidosis ORPHA:264580
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... ORPHA:79259
Intestinal Dysmotility Syndrome
Diarrhea, Weight loss, Failure to thrive, Projectile vomiting OMIM:620045
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis ORPHA:900
Familial Mediterranean Fever
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria ORPHA:342
Holoprosencephaly
Proteinuria, Hypoplasia of penis, Abnormality of the urinary system ORPHA:2162
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis, Failure to thrive ORPHA:416
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... ORPHA:191
Gaucher Disease Type 3
Hematuria, Proteinuria ORPHA:77261
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria ORPHA:699
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Delayed menarche, Cyanosis, Severe fai... ORPHA:740
Orofaciodigital Syndrome Type 1
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency ORPHA:2750
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Relapsing Polychondritis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:728
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Cockayne Syndrome B
Micropenis, Proteinuria, Renal insufficiency OMIM:133540
Cockayne Syndrome A
Micropenis, Proteinuria, Renal insufficiency OMIM:216400
Aicardi-Goutières Syndrome
Cutis marmorata, Multiple joint contractures, Myositis, Prolonged neonatal jaundice, Short statur... ORPHA:51
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis, Aortopulmonary window ORPHA:2299
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Generalized Arterial Calcification Of Infancy
Vomiting, Failure to thrive in infancy, Cyanosis, Myocardial calcification, Calcification of the ... ORPHA:51608
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... ORPHA:904
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Pulmonary artery atresia, Failure to thrive ORPHA:216694
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Poor wound healing, Bruising susceptibility, Vomiting, Chronic constipat... ORPHA:287
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Fraser Syndrome
Pulmonary hypoplasia, Tracheal stenosis, Abnormal lung lobation ORPHA:2052
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Coffin-Lowry Syndrome
Short stature, Cutis marmorata, Acrocyanosis, Decreased body weight OMIM:303600
Gaucher Disease
Hematuria, Proteinuria ORPHA:355
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Tracheal stenosis, Abnormality of the pulmonary artery, Pulmonary artery sling... ORPHA:261537
Eisenmenger Syndrome
Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Mowat-Wilson Syndrome
Vomiting, Tracheal stenosis, Decreased body weight, Pulmonary artery sling, Camptodactyly, Entero... ORPHA:2152
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria ORPHA:99827
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard... ORPHA:99125
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Tracheal stenosis, Abnormality of the pulmonary artery, Pulmonary artery sling... ORPHA:261552
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Hypermobile Ehlers-Danlos Syndrome
Gastroesophageal reflux, Bruising susceptibility, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:285
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts 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