Gene Summary

Name:
kirre like nephrin family adhesion molecule 1
Synonyms:
Kirrel1,  6720469N11Rik,  Neph1

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
abnormal placenta vasculature Kirrelem1(IMPC)Mbp HET E15.5 0.00
abnormal retina blood vessel morphology Kirrelem1(IMPC)Mbp HET Early adult 8.62×10-05
persistence of hyaloid vascular system Kirrelem1(IMPC)Mbp HET Early adult 7.41×10-06
abnormal placenta morphology Kirrelem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Kirrelem1(IMPC)Mbp HOM   Early adult 0.00
eye hemorrhage Kirrelem1(IMPC)Mbp HET   Early adult 2.66×10-05
abnormal retina vasculature morphology Kirrelem1(IMPC)Mbp HET   Early adult 3.78×10-05
abnormal placenta morphology Kirrelem1(IMPC)Mbp HOM E15.5 0.00

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Human diseases caused by Kirrel 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 Kirrel by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Retinal Capillary Malformation
Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Epiretinal membrane, Vitreous floa... ORPHA:71213
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... ORPHA:567544
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617729
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment, Abnormal fundus morphology ORPHA:39044
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Retinal fold, Hyphema OMIM:221900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... OMIM:612925
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Neonatal death OMIM:228940
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612926
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:251300
Preeclampsia
Acute kidney injury, Chronic kidney disease, Abnormality of the kidney, Proteinuria ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612922
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Retinal peau d'orange, Macular degen... OMIM:264800
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Death in infancy, Ne... OMIM:613404
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... OMIM:263200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Retinal arteriolar tortuosity, Raynaud phenomenon OMIM:611773
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Fanconi Anemia, Complementation Group O
Renal cyst, Neonatal death, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... ORPHA:261222
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Proteinuria, Stage 5 chr... OMIM:609049
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic cardiomyopathy, Muscl... ORPHA:464321
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:236500
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... OMIM:614376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Joubert Syndrome 20
Renal cyst OMIM:614970
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Retinoblastoma
Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Retinal calcification, ... ORPHA:790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth, Hepatic cysts OMIM:263630
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... OMIM:607426
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Phacoanaphylactic Uveitis
Cystoid macular edema, Macular edema, Vitreoretinopathy, Abnormal vitreous humor morphology, Trac... ORPHA:209959
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Proteinuria ORPHA:369
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... OMIM:120200
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Renal neoplasm OMIM:135150
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Subconjunctival hemo... ORPHA:464329
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... OMIM:300554
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Macular edema, Retinal hemorrhage, Gastrointestinal h... OMIM:192315
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... OMIM:137920
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Renal salt wasting OMIM:613845
Leptospirosis
Optic neuritis, Papilledema, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, C... ORPHA:509
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia OMIM:615583
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Acute kidney injury, Exercise-induce... ORPHA:368
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Vitritis OMIM:180200
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Axial Osteomalacia
Renal cyst OMIM:109130
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epinephrine, Elevated urinary... ORPHA:276621
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... ORPHA:340
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... ORPHA:255249
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycystic kidney dy... OMIM:231680
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Death in infancy OMIM:618886
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Hypotension, Myocarditis, Shock, Purpura, Ecchymosis, Su... ORPHA:319213
Cystinosis
Renal tubular dysfunction, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency ORPHA:213
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... OMIM:616307
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Macular degeneration, Retinal hemorrhage, Angioid streaks o... OMIM:177850
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Death in childhood, Glycosuria, Renal Fanconi syndrome,... OMIM:220110
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:91138
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:330001
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney ORPHA:251004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Hydronephrosis, Renal dysplasia, Micropenis OMIM:615287
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis OMIM:300209
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... ORPHA:411634
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... ORPHA:2970
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Elevated urinary epineph... ORPHA:29072
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Heme Oxygenase 1 Deficiency
Nephritis, Hematuria, Proteinuria OMIM:614034
Glycogen Storage Disease Ia
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232200
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Renal hypoplasia, Proteinuria ORPHA:1307
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... ORPHA:157
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Micros... ORPHA:1830
Aicardi-Goutieres Syndrome 9
Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Thickened glomerular base... OMIM:619487
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology OMIM:274150
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic kidney dyspla... OMIM:613095
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Tubulointerstitial nephritis, Proteinuria,... ORPHA:33001
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Oliguria, Acute kidney injury, Renal insufficiency, Exercise... ORPHA:99845
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insufficiency, Proteinuria,... OMIM:277400
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:36412
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5... OMIM:242900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... ORPHA:247691
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... ORPHA:47159
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Abnormality of the urinary system, Hematuria, Proteinu... ORPHA:93552
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Glycogen Storage Disease Ib
Nephrolithiasis, Decreased glomerular filtration rate, Enlarged kidney, Focal segmental glomerulo... OMIM:232220
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Fabry Disease
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria OMIM:301500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... ORPHA:228308
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele ORPHA:2031
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, St... OMIM:216360
Joubert Syndrome 14
Renal cyst OMIM:614424
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency, Death in childhood OMIM:619147
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... ORPHA:1834
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Glycogen Storage Disease Ic
Decreased glomerular filtration rate, Hematuria, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:232240
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Rena... OMIM:613550
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Glycosuria, Proteinuria ORPHA:263455
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Meckel Syndrome, Type 2
Renal cyst, Meningocele OMIM:603194
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Death in childhood, Mild proteinuria OMIM:619685
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Ohdo Syndrome
Proteinuria OMIM:249620
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria ORPHA:2728
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Tubulointerstitial nephritis, Proteinuria, Renal insufficiency, Glomerulopathy ORPHA:183
Waldenström Macroglobulinemia
Abnormal retinal vascular morphology, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura,... ORPHA:33226
Pheochromocytoma
Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis OMIM:171300
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria OMIM:232800
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Renal insuffi... ORPHA:85443
Meckel Syndrome, Type 4
Renal cyst, Meningocele OMIM:611134
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Death in infancy OMIM:208500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia OMIM:614091
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Urinary hesitancy, Proteinuria, Urinary bladder inflammation ORPHA:556
Legionnaires Disease
Renal insufficiency, Hematuria, Proteinuria ORPHA:549
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Death in infancy, Exercise-induced myoglobinuria OMIM:201475
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal Fan... ORPHA:411629
Lymphatic Filariasis
Nephrotic syndrome, Urethral obstruction, Abnormality of the kidney, Hematuria, Proteinuria, Glom... ORPHA:2035
Bardet-Biedl Syndrome
Nephrotic syndrome, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:110
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Death in childhood, Renal cyst, Proteinuria, Death in infancy, Proximal tubul... OMIM:212065
Renal Nutcracker Syndrome
Microscopic hematuria, Hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst OMIM:614866
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hematuria, Low-... OMIM:219800
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:600740
Rift Valley Fever
Melena, Hematemesis, Abnormal bleeding, Macular edema, Retinal hemorrhage, Retinal vasculitis, Gi... ORPHA:319251
Cystic Echinococcosis
Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatic cysts ORPHA:400
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Horseshoe kidney, Hepatic cysts OMIM:612284
Systemic Sclerosis
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... ORPHA:90291
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Xfe Progeroid Syndrome
Renal insufficiency, Death in adolescence, Proteinuria OMIM:610965
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Renal cell car... ORPHA:93111
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Hematuria, Proteinuria, Stage 5 chronic kidney disease ORPHA:1018
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Campomelia, Cumming Type
Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts ORPHA:1318
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Renal dysplasia, Enlarged kidney, Hepatic cysts, Polycystic kidney dysplasia, Ren... OMIM:208540
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis OMIM:220500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus OMIM:618454
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Abnormality of the kidney, Hematuria, Thickened glomerular basemen... ORPHA:2614
Martin-Probst Syndrome
Renal insufficiency, Chordee, Proteinuria, Micropenis OMIM:300519
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts ORPHA:2869
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Lysinuric Protein Intolerance
Argininuria, Oroticaciduria, Decreased glomerular filtration rate, Abnormal renal tubule morpholo... ORPHA:470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Heparan sulfate excretion in urine, Enlarged kidney, Urinary glycosaminoglyca... ORPHA:505248
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria, Lacticaciduria, Ethylm... ORPHA:26791
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele ORPHA:261265
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Distal Tetrasomy 15Q
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... ORPHA:314588
Vacterl/Vater Association
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... ORPHA:887
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Cornelia De Lange Syndrome 1
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... OMIM:122470
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Hydronephrosis, Renal cortical microcysts, Albuminuria OMIM:214100
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Glycosuria, Hypercalciuria, Proteinuri... OMIM:277900
Melas
Focal segmental glomerulosclerosis, Nephropathy, Proteinuria, Proximal tubulopathy ORPHA:550
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Recurrent urinary tract infections, Hypoplasia of the bl... OMIM:614527
Kleefstra Syndrome
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ve... ORPHA:261494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:761
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve ORPHA:261290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Ureteral duplication, Renal dysplasia, Enlarged kidney, Polycys... OMIM:608836
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria ORPHA:1855
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Mosaic Trisomy 1
Penile hypospadias, Renal cyst, Renal cortical cysts, Micropenis ORPHA:1692
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Gaucher Disease Type 1
Hematuria, Proteinuria ORPHA:77259
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... OMIM:146510
Gitelman Syndrome
Renal tubular acidosis, Nocturia, Focal segmental glomerulosclerosis, Renal Fanconi syndrome, Tub... ORPHA:358
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal cyst, Renal malrotation OMIM:617107
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Hemoglobinuria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Renal in... ORPHA:447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Branchio-Oculo-Facial Syndrome
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Cocaine Intoxication
Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomerulonephritis ORPHA:90068
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia OMIM:308205
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage OMIM:608710
Radio-Renal Syndrome
Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3015
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Mac... ORPHA:91500
Hyperparath