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Gene: Mir204 MGI:2676879

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Gene Summary

Name:
microRNA 204
Synonyms:
Mirn204,  mmu-mir-204

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Mir204tm1Wtsi HOM   Early adult 3.04×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Mir204 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 Mir204 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722

The table below shows human diseases predicted to be associated to Mir204 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
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
Cataract 42
Cataract, Developmental cataract OMIM:115900
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
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
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cataract 7
Developmental cataract OMIM:115660
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Galactosemia Iv
Cataract OMIM:618881
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 47
Microcornea, Cataract OMIM:612018
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Galactosemia Ii
Cataract OMIM:230200
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
X-Linked Retinoschisis
Cataract ORPHA:792
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Dermoids Of Cornea
Corneal opacity OMIM:304730
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit... ORPHA:85450
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Amyloidosis, Familial Visceral
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy OMIM:105200
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
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
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... OMIM:603278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... OMIM:263200
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria, Foam cells OMIM:245900
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis OMIM:232500
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k... ORPHA:85443
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... OMIM:209010
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atherosclerosis, Acute kidney i... ORPHA:650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndrome, Hypertension... ORPHA:1192
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Nathalie Syndrome
Cataract OMIM:255990
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... ORPHA:275555
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:616730
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury ORPHA:54057
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria ORPHA:375
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Ri... ORPHA:90291
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... ORPHA:182050
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Congestive heart failure ORPHA:66631
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Igg4-Related Kidney Disease
Renal insufficiency, Pericarditis, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Cataract 24
Anterior polar cataract OMIM:601202
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Aniridia 3
Aniridia, Cataract OMIM:617142
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:618348
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Retinitis Pigmentosa 40
Cataract OMIM:613801
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Pellagra-Like Syndrome
Cataract OMIM:260650
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... ORPHA:368
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Renal tubular dysfunction, Glycos... ORPHA:99885
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Hypert... ORPHA:79259
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Cataract 48
Cataract OMIM:618415
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Congenital Varicella Syndrome
Cataract ORPHA:291
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney ORPHA:369
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis OMIM:614034
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy OMIM:613404
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Tubulointerstitial fibrosis OMIM:607944
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria ORPHA:91138
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Renal Hypodysplasia/Aplasia 1
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Cahmr Syndrome
Lamellar cataract OMIM:211770
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... ORPHA:91139
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ... OMIM:256550
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... OMIM:613845
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Microsc... OMIM:274150
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... ORPHA:71273
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury, Arrhythmia ORPHA:57
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Pseudo-Torch Syndrome 3
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage OMIM:618886
Schimke Immuno-Osseous Dysplasia
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy OMIM:231530
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria ORPHA:119
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca... OMIM:208000
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ar... ORPHA:33001
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Arte... OMIM:242900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... ORPHA:247691
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... OMIM:619487
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Hematuria, Nephrotic syndrome, ... ORPHA:93552
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia... ORPHA:228308
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... ORPHA:251004
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension, Arrhythmia ORPHA:549
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Small vessel vasculitis ORPHA:36412
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Congestive heart failure, Nephrotic syndrome, Focal segmental glomerulosclerosis, Re... OMIM:617303
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... OMIM:232200
Fabry Disease
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Bundle branch block, Proteinuri... ORPHA:324
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... OMIM:617729
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi... OMIM:232240
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Myoglobinuria, Red-brown urine, Arrhythmia ORPHA:228305
Diffuse Alveolar Hemorrhage
Hematuria, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Papa Syndrome
Proteinuria ORPHA:69126
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... ORPHA:244242
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,... ORPHA:423
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... OMIM:232220
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Proteinuria, Multiple bladder diverticula ORPHA:2728
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Reduced left ventric... OMIM:201475
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Gitelman Syndrome
Prolonged QT interval, Proteinuria, Urinary incontinence, Decreased urinary potassium, Raynaud ph... ORPHA:358
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... ORPHA:447
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria OMIM:619525
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhythmia OMIM:609015
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria OMIM:607155
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Renovascular hypertension, Carotid artery stenosis OMIM:602531
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Familial Mediterranean Fever
Pericarditis, Proteinuria, Myocardial infarction, Vasculitis, Nephrocalcinosis, Nephrotic syndrom... ORPHA:342
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Cardiac arrest, Ventricular tachycardia, Hypertrophic cardiomyopathy, Torsade de point... OMIM:616878
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Orthostatic hypotension ... ORPHA:85448
Spondyloenchondrodysplasia
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension ORPHA:1855
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis OMIM:300519
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne... OMIM:208500
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat... ORPHA:550
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia, Hy... ORPHA:94093
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... OMIM:219800
Ohdo Syndrome
Proteinuria OMIM:249620
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria ORPHA:761
Wagro Syndrome
Hypertension, Nephroblastoma, Proteinuria OMIM:612469
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Proximal tubulopathy OMIM:212065
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Xfe Progeroid Syndrome
Hypertension, Renal insufficiency, Proteinuria OMIM:610965
Acquired Generalized Lipodystrophy
Cardiomyopathy, Proteinuria, Hypertension, Abnormal cardiovascular system physiology ORPHA:79086
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... ORPHA:470
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Palpitations OMIM:255125
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... ORPHA:71212
Gaucher Disease Type 1
Hematuria, Pulmonary arterial hypertension, Proteinuria ORPHA:77259
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Renal s... ORPHA:391665
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Kawasaki Disease
Pericarditis, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Sterile pyuria, Asc... ORPHA:2331
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Imerslund-Gräsbeck Syndrome
Tachycardia, Proteinuria ORPHA:35858
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Cockayne Syndrome Type 1
Hypertension, Renal insufficiency, Proteinuria ORPHA:90321
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, Myoglobinuria ORPHA:206549
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Large vessel vasculi... ORPHA:728
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... ORPHA:48435
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Cardiomyopathy ORPHA:264580
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... ORPHA:544482
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Gaucher Disease Type 3
Hematuria, Pulmonary arterial hypertension, Proteinuria ORPHA:77261
Pearson Syndrome
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Lacticaciduria, Renal cyst, Car... ORPHA:699
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino... ORPHA:904
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria ORPHA:79240
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria OMIM:619471
Holoprosencephaly
Hypoplasia of penis, Proteinuria, Abnormality of the urinary system, Abnormal aortic morphology, ... ORPHA:2162
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis OMIM:216400
Orofaciodigital Syndrome I
Hypertension, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Mitral regurgitation, Tricuspid regurgitation, Proteinuria OMIM:619127
Glycogen Storage Disease Xii
Hemoglobinuria OMIM:611881
Gaucher Disease
Hematuria, Pulmonary arterial hypertension, Proteinuria ORPHA:355
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Cerebral hemorrhage OMIM:616682
Pmm2-Cdg
Pericarditis, Proteinuria, Angina pectoris, Intracranial hemorrhage, Nephrotic syndrome, Multiple... 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 Mir204

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 Mir204.

No publications found that use IMPC mice or data for Mir204.

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MGI Allele Allele Type Produced
Mir204tm1Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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