Gene Summary

Name:
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms:
2310066H07Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
edema Gneem1(IMPC)Mbp HET E15.5 0.00
prenatal lethality prior to heart atrial septation Gneem1(IMPC)Mbp HOM   E15.5 0.00
abnormal neural tube morphology Gneem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Gneem1(IMPC)Mbp HET E15.5 0.00
abnormal heart morphology Gneem1(IMPC)Mbp HOM E9.5 0.00
decreased prepulse inhibition Gneem1(IMPC)Mbp HET Early adult 7.47×10-06
abnormal placenta morphology Gneem1(IMPC)Mbp HET E15.5 0.00
persistence of hyaloid vascular system Gneem1(IMPC)Mbp HET Early adult 4.08×10-05
microphthalmia Gneem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Gneem1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Gne 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 Gne by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nonaka Myopathy
Elevated circulating creatine kinase concentration OMIM:605820
Gne Myopathy
Cardiomyopathy ORPHA:602
Sialuria
Prolonged prothrombin time ORPHA:3166
Sialuria
OMIM:269921

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, E... OMIM:618348
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Colitis, Minimal change glomer... OMIM:617006
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nanophthalmos 2
Microphthalmia OMIM:609549
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis OMIM:617056
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Renal dysplasia, R... OMIM:615993
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Lipedema
Edema OMIM:614103
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Nephronophthisis
Renal insufficiency ORPHA:655
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease OMIM:618250
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency OMIM:613861
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Multiple glomerular cysts, Decreased numbers o... OMIM:137920
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangial hypercellula... ORPHA:329918
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Scl... ORPHA:93126
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Crystalluria, Renal insuffi... ORPHA:411536
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Bronchiectasis, Renal insufficiency, Stage 5 chronic kidney di... OMIM:619468
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Stage 5 chroni... ORPHA:567546
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Nanophthalmos 4
Microphthalmia OMIM:615972
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... ORPHA:251004
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Failure to thrive, Duplicated collecting system OMIM:617093
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Preeclampsia
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Small for gestat... ORPHA:275555
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Orthostatic hypotension, Hydronephrosis, Failure to thrive, Vesicoureteral reflux, Recurrent urin... OMIM:191800
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Nephropathy, Skin rash OMIM:105200
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617729
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hypouricemia, Renal, 1
Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Increased urinary urate, Acute kidn... OMIM:220150
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Dysuria, Macroscopic hematuria, Nephropathy, Renal insufficiency, Gout, Uric... ORPHA:79233
Bardet-Biedl Syndrome 19
Renal insufficiency OMIM:615996
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Aapoaiv Amyloidosis
Glomerular sclerosis, Proteinuria, Chronic kidney disease, Renal amyloidosis, Renal interstitial ... ORPHA:439232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Renal tubular epithelial necrosis, ... ORPHA:228302
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Pulmonic stenosis, Hydroureter OMIM:264140
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys, Multiple glomerular cysts OMIM:618719
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria ORPHA:182050
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Renal tubular... OMIM:603860
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Lesch-Nyhan Syndrome
Gout, Hematuria, Renal insufficiency ORPHA:510
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epineph... ORPHA:276621
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Hyperuricemia, Hprt-Related
Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency OMIM:613388
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux, Failure to thrive in infancy ORPHA:85285
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency OMIM:603592
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Renal ins... ORPHA:2704
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Acute kidney injury, Hematuria, Proteinuria, Decreased serum creatinine, Myocardial i... ORPHA:54057
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Renal insufficiency, Focal segmenta... OMIM:251300
Schimke Immunoosseous Dysplasia
Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:242900
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Glomerular sclerosis, Chilblains, Proteinuria, Micropenis, Thickened glomerul... OMIM:619487
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Crystalluria, Renal insufficiency, Gout, Uric acid nephroli... ORPHA:411543
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Pancreatitis... OMIM:232200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Stag... ORPHA:650
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein conc... ORPHA:231111
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Systemic Sclerosis
Recurrent skin infections, Acute kidney injury, Proteinuria, Arthritis, Glomerulonephritis, Chron... ORPHA:90291
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency OMIM:618061
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Pancreatitis... OMIM:232220
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Obesity, Chronic kidney disease, Abnormality of the kidney, Hyperuri... ORPHA:261222
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Dysphagia, Renal atrophy OMIM:618578
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... OMIM:616026
8P23.1 Duplication Syndrome
Hydronephrosis, Pulmonic stenosis ORPHA:251076
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Thickened glomerular basement membrane, Abnormal renal physiology, Nephro... OMIM:308940
Glycogen Storage Disease Ic
Hematuria, Proteinuria, Decreased glomerular filtration rate, Chronic pancreatitis, Renal insuffi... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Hypervitaminosis A, Susceptibility To
Renal insufficiency OMIM:240150
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Elevated circulating creatinine concentration, Inc... OMIM:223900
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria OMIM:166300
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux OMIM:618265
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Elevated urinary epineph... ORPHA:29072
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycyst... OMIM:613095
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Proteinuria, Renal tubular atrophy, Nep... OMIM:617303
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficie... OMIM:276700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Pneumonia, Proteinuria, Nephropathy, Skin rash ORPHA:247691
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Pierson Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hyperechogenic kidneys, Stage 5 chr... OMIM:609049
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, P... OMIM:613845
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Nephropathy, Pancreatitis, Nephrotic range proteinuria, Stage... ORPHA:1830
Al Amyloidosis
Nephrotic syndrome, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, ... ORPHA:85443
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Nanophthalmos
Microphthalmia ORPHA:35612
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hydronephrosis, Ren... OMIM:154230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Chro... OMIM:146255
Malaria
Acute kidney injury ORPHA:673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Recurrent pneumonia, Pneumonia, Sinusitis OMIM:102700
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Familial Isolated Hyperparathyroidism
Hypercalciuria, Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency ORPHA:99879
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Short stature, Growth delay ORPHA:2528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Nephrotic syndrome, Gastrointestinal hemorrhage, Elevated circulating creatinine conce... ORPHA:85450
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Lacticaciduria, Pancreatitis, Renal insufficiency OMIM:619386
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency ORPHA:28
Simple Cryoglobulinemia
Viral hepatitis, Nephrotic syndrome, Mesangial hypercellularity, Proteinuria, Arthritis, Abnormal... ORPHA:91139
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Hypertrophic cardiomyopathy, Failure to t... ORPHA:369
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, ... OMIM:300554
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Cystinosis
Hypokalemia, Portal hypertension, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Failure ... ORPHA:213
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Pediatric Systemic Lupus Erythematosus
Myositis, Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Abnormality of the urinary syste... ORPHA:93552
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Laurence-Moon Syndrome
Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Retinal Venous Beading
Nephritis OMIM:180080
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... ORPHA:94059
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Muckle-Wells Syndrome
Maculopapular exanthema, Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, C... OMIM:191900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Albuminuria, Hypospadias OMIM:214100
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Chronic kidney... ORPHA:368
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria, Calcinosis, Dysphagia OMIM:617913
Cryoglobulinemic Vasculitis
Viral hepatitis, Hematuria, Proteinuria, Keratoconjunctivitis sicca, Glomerulopathy, Renal insuff... ORPHA:91138
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Growth delay OMIM:278780
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Pustule, Arthritis ORPHA:69126
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia, Dysphagia OMIM:618494
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Hypertrophic... ORPHA:330001
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder OMIM:619218
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Hemolytic-uremic syndrome, Maculopapular exanthema, Rena... OMIM:619644
Desmoid Tumor
Hydronephrosis, Gastrointestinal hemorrhage, Abnormality of the upper urinary tract ORPHA:873
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Elevated circulating creatine kinase concentration, Renal... OMIM:615287
Transcobalamin Deficiency
Methylmalonic aciduria, Acute kidney injury ORPHA:859
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Nephroblastoma, Nephropathy, Renal insufficiency OMIM:194072
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Hypomagnesemia 2, Renal
Renal magnesium wasting, Hypocalciuria, Renal insufficiency OMIM:154020
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Nephropathy, Proteinuria OMIM:209010
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Elevated urinary dopamine... ORPHA:230
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Decreased serum iron, Pulmo... ORPHA:447
Nephropathy, Deafness, And Hyperparathyroidism
Nephropathy, Renal insufficiency OMIM:256120
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Acute kidney injury, Chronic kidney dise... ORPHA:284426
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Abnormality of the upper urinary tra... ORPHA:99885
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary t... ORPHA:2970
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Failure to thrive in infancy, Renal insufficiency OMIM:611209
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Renal tubular dysfunction, Renal insufficiency ORPHA:289916
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Congestive heart failure, Proteinuria, Elevated urinary norepinephrine, Episodic h... OMIM:171420
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Weight loss, Nephropathy ORPHA:100024
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Alg1-Cdg
Abnormality of the kidney, Nephrotic syndrome, Renal insufficiency ORPHA:79327
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Recurrent myoglobinuria, Dark urine, Renal insufficiency... ORPHA:99845
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Elevated circulating creatinine c... ORPHA:340
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:35710
Hypocomplementemic Urticarial Vasculitis
Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnormality of the eye, Episcleritis, Gl... ORPHA:36412
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Frontal encephalocele OMIM:218670
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Microscopic Polyangiitis
Oliguria, Sinusitis, Uveitis, Hematuria, Arthritis, Peritonitis, Increased inflammatory response,... ORPHA:727
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Weight loss, Hyperuricosuria, Hypercalciuria,... ORPHA:3337
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay OMIM:274270
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Tubulointerstitial nephrit... ORPHA:139402
Proximal Renal Tubular Acidosis
Glycosuria, Hypovolemia, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hyperca... ORPHA:47159
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Mmep Syndrome
Microphthalmia ORPHA:3434
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Ma... OMIM:233450
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Dysuria, Decreased glomerular filtration rate, Enur... ORPHA:93598
Fanconi Anemia, Complementation Group G
Microphthalmia, Growth delay OMIM:614082
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Myocarditis, Pancreatitis, Renal insufficiency, Peric... ORPHA:188
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypokalemia, Hypocitraturia, Hyp... ORPHA:18
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Arrhythmia, Elevated ci... ORPHA:157
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Membranoproliferative glomerulonephritis, Chronic kidney di... OMIM:137940
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Abnormal urine sodium concentration, Renal insufficiency ORPHA:320
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Wolfram Syndrome 1
Hydronephrosis, Cardiomyopathy, Dysphagia, Hydroureter, Neurogenic bladder OMIM:222300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Arrhythmia, Elevated ci... ORPHA:228308
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy OMIM:607598
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Majeed Syndrome
Proteinuria, Acne, Osteomyelitis, Glomerulopathy, Synovitis, Microscopic hematuria, Inflammatory ... ORPHA:77297
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Elevated circulating c... OMIM:608836
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Hyperammonemia, Decreased... ORPHA:470
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity OMIM:619185
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation, Ascites ORPHA:858
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Aminoaciduria, Subcutaneous hemorrhage OMIM:603585
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Nephrotic syndrome, Recurrent sinusitis, Membranous nephropathy, Recurren... OMIM:615559
Cockayne Syndrome Type 1
Proteinuria, Increased blood urea nitrogen, Failure to thrive, Hypertension, Renal insufficiency ORPHA:90321
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyp... OMIM:145600
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Renal insufficie... ORPHA:3027
Babesiosis
Renal insufficiency ORPHA:108
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia OMIM:617914
Mitochondrial Complex Iv Deficiency, Nuclear Type 1