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Gene: Gne MGI:1354951

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Gneem1(IMPC)Mbp HET E15.5 0.00
abnormal heart morphology Gneem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Gneem1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube morphology Gneem1(IMPC)Mbp HOM E9.5 0.00
microphthalmia Gneem1(IMPC)Mbp HET E15.5 0.00
decreased prepulse inhibition Gneem1(IMPC)Mbp HET Early adult 1.06×10-05
embryonic growth retardation Gneem1(IMPC)Mbp HET E15.5 0.00
edema Gneem1(IMPC)Mbp HET E15.5 0.00
prenatal lethality prior to heart atrial septation Gneem1(IMPC)Mbp HOM   E15.5 0.00
persistence of hyaloid vascular system Gneem1(IMPC)Mbp HET Early adult 3.36×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Gross Morphology Embryo E9.5

Images

9 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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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
Sialuria
Attention deficit hyperactivity disorder, Increased level of N-acetylneuraminic acid in urine OMIM:269921
Nonaka Myopathy
Elevated circulating creatine kinase concentration OMIM:605820
Gne Myopathy
Cardiomyopathy ORPHA:602
Sialuria
Prolonged prothrombin time, Attention deficit hyperactivity disorder ORPHA:3166

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
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Lipedema
Edema OMIM:614103
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephronophthisis
Renal insufficiency ORPHA:655
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... OMIM:615993
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Bronchiec... OMIM:619468
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... ORPHA:411536
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... ORPHA:49041
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout ORPHA:510
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria OMIM:300323
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... ORPHA:54057
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... OMIM:620010
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Os... ORPHA:90291
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains OMIM:619858
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... OMIM:620141
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Decreased glomerular filt... OMIM:232200
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, A... ORPHA:411543
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... OMIM:274150
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity OMIM:615996
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Hepatic Veno-Occlusive Disease
Renal insufficiency ORPHA:890
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
8P23.1 Duplication Syndrome
Hydronephrosis, Pulmonic stenosis ORPHA:251076
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Dysphagia OMIM:618578
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... OMIM:616026
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Skin rash, Glomerular sclerosis, Nephropathy ORPHA:247691
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large... OMIM:232220
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Nanophthalmos
Microphthalmia ORPHA:35612
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul... OMIM:232240
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:617303
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni... OMIM:102700
Malaria
Acute kidney injury ORPHA:673
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Fanconi Anemia, Complementation Group O
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Nanophthalmos 4
Microphthalmia OMIM:615972
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... OMIM:242900
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency ORPHA:28
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Renal insufficiency, Purpur... ORPHA:85450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Lacticaciduria, Pancreatitis OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Hyperlipidemia, Hypertrophic cardiomyopathy, Failure to t... ORPHA:369
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Conjunctivitis, Renal amyloidosis, Recurrent aphtho... OMIM:191900
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... ORPHA:368
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus ORPHA:2377
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, Attention deficit hyperactivity disorder, F... OMIM:609757
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... OMIM:276700
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis OMIM:217090
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... OMIM:619644
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... OMIM:620300
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Decreased body weight OMIM:618265
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Noct... OMIM:223360
Desmoid Tumor
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma OMIM:194072
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... ORPHA:230
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R... OMIM:613159
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... ORPHA:447
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Pancreatitis ORPHA:289916
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting ORPHA:320
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... ORPHA:36412
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria ORPHA:324525
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
22Q11.2 Duplication Syndrome
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... ORPHA:1727
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Hyperprolinemia Type 2
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Erythrocyte cylindruria, Incre... OMIM:233450
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... ORPHA:263455
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Pancreatitis, Abnormal renal tubule mor... ORPHA:188
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H... ORPHA:228308
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Cardiomyopathy, Dysphagia, Hydronephrosis OMIM:222300
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Hypovolemia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity OMIM:619185
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Hypertension, Increased blood urea nitrogen, Failure to thrive ORPHA:90321
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... ORPHA:77297
Congenital Toxoplasmosis
Microphthalmia, Ascites, Intrauterine growth retardation ORPHA:858
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Mmep Syndrome
Microphthalmia ORPHA:3434
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Diffuse Alveolar Hemorrhage
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven... ORPHA:90060
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... OMIM:615559
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Webb-Dattani Syndrome
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Babesiosis
Renal insufficiency ORPHA:108
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Pancreatitis ORPHA:79312
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Pulmonic stenosis OMIM:179613
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
X-Linked Intellectual Disability Due To Gria3 Mutations
Aggressive behavior, Hydronephrosis, Micropenis, Slender build, Self-mutilation ORPHA:364028
Melas
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... ORPHA:550
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... OMIM:617913
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Nephrob... OMIM:612469
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Hypertension, Acu... OMIM:618886
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis, Dysphagia OMIM:618494
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... ORPHA:57
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Hydronephrosis ORPHA:488613
Alstrom Syndrome
Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,... OMIM:203800
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis ORPHA:27
Suleiman-El-Hattab Syndrome
Failure to thrive, Hydronephrosis OMIM:618950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia ORPHA:85321
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerstitial nephriti... ORPHA:358
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Hydronephrosis, Stereotypical hand wringing OMIM:619179
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypospadias, Hydronephrosis, Pulmonic stenosis OMIM:220210
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis ORPHA:83317
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity OMIM:615989
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... OMIM:619147
Kury-Isidor Syndrome
Hydronephrosis, Attention deficit hyperactivity disorder OMIM:619762
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm... OMIM:301056
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ... ORPHA:549
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I... ORPHA:71212
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Obes... ORPHA:261494
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypospadias, Micropenis, Hypertrophic cardiomyopathy, Hydronephrosis OMIM:616897
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency ORPHA:1563
Helix Syndrome
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria OMIM:617671
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Large for gestational age, Pulmonic stenosis, Hypertroph... OMIM:610733
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... OMIM:232800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Renal insufficiency, Sinusitis, Glomerulonephritis, Fasciitis... ORPHA:36234
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... ORPHA:314588
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis ORPHA:2315
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... ORPHA:90068
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Boutonneuse Fever
Skin rash, Renal insufficiency, Maculopapular exanthema ORPHA:83313
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... ORPHA:761
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... ORPHA:71273
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Recurrent in... ORPHA:900
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Neonatal death, Failure to thrive, Hydronephrosis OMIM:311900
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Aortic valve... ORPHA:261290
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis OMIM:609465
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Palpable purpura, Membranoprolif... ORPHA:48435
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyngeal dy... OMIM:616878
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension OMIM:619431
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... ORPHA:1018
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Failure to thrive, Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemi... ORPHA:79259
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden cardiac death, ... OMIM:201475
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology ORPHA:440713
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Prolonged prothrombin ti... ORPHA:244242
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive OMIM:610965
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... ORPHA:536
Meningococcal Meningitis
Skin rash, Renal insufficiency, Infectious encephalitis ORPHA:33475
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy OMIM:231530
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Prolonged prothrombin ... OMIM:212065
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Zellweger Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis ORPHA:912
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... ORPHA:96169
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys... ORPHA:2237
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis OMIM:251000
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis ORPHA:568
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Hydron... OMIM:611209
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:228390
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Mitral regurgitation, Attention deficit hyper... ORPHA:261349
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoure... OMIM:618460
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Proteinuria, Multiple bladder diverticula ORPHA:2728
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... ORPHA:324
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis ORPHA:764
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Visceral Myopathy 1
Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:612513
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Chordee, Hypospadias, Renal dysplasia ORPHA:96179
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Decreased serum zinc, Hydronephrosis ORPHA:541423
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Hyperactivity, Small for gestational age, Impulsivity, Pulmon... OMIM:610443
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... OMIM:614921
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Renal insufficiency, Oliguria ORPHA:220393
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... ORPHA:79276
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... ORPHA:100078
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal... ORPHA:464311
Pierpont Syndrome
Microphthalmia ORPHA:487825
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Congestive heart failure, Weight loss, Polydipsia, Hydronephrosis ORPHA:35687
3C Syndrome
Hypoplasia of penis, Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis ORPHA:7
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Uric acid nephrolithiasis OMIM:300661
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... ORPHA:1225
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated circulating creatine kinase concentration, Congestive heart failure,... OMIM:608779
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Cheilitis, Eosinophil... ORPHA:293173
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... OMIM:614080
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux ORPHA:140952
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pulmonic stenosis, Neonatal death, Pelvic ... OMIM:601186
Gaucher Disease Type 1
Proteinuria, Anorexia, Hematuria, Gingival bleeding, Pulmonary arterial hypertension, Bruising su... ORPHA:77259
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Bresek Syndrome
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Valvular pulmonary stenosis, V... OMIM:300707
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Proteinuria, Weight loss, Failure to thrive ORPHA:35858
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia OMIM:235255
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity disorder ORPHA:250989
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronep... OMIM:235510
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Refsum Disease
Renal insufficiency ORPHA:773
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... ORPHA:91500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive mann... OMIM:618653
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Hypospadias, Hydronephrosis OMIM:616449
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, High-output congestive heart failure, Ventricular tachyc... ORPHA:423
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... OMIM:251900
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... ORPHA:96092
Ohdo Syndrome
Proteinuria OMIM:249620
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Brui... ORPHA:2953
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... ORPHA:322
Carpenter Syndrome 1
Hydroureter, Hydronephrosis, Pulmonic stenosis, Obesity OMIM:201000
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... ORPHA:1855
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Failure to thrive, Hypospadias, Small for gestational age, U... ORPHA:464306
Relapsing Fever
Hematuria, Abnormality of the urinary system, Acute kidney injury ORPHA:91547
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Short stature, Edema ORPHA:2505
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias, Hypertensive crisis ORPHA:1358
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem... ORPHA:31826
Porphyria Variegata
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele... ORPHA:79473
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis OMIM:617159
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ... OMIM:607155
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Monosomy 18P
Microphthalmia, Short stature, Lymphedema ORPHA:1598
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ascites, Short stature OMIM:602361
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Snakebite Envenomation
Acute kidney injury ORPHA:449285
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... ORPHA:96121
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Acute kidney injury, Skin rash, Decreased urine output ORPHA:542323
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease OMIM:620366
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Skin rash, Osteoarthritis, Glycosuria, Nephritis ORPHA:2298
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
15Q Overgrowth Syndrome
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... ORPHA:314585
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Colitis, Inflammation of the large intestine OMIM:203300
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease OMIM:267010
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Failure to thrive... ORPHA:2995
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D... OMIM:616973
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma... ORPHA:534
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Mercury Poisoning
Interstitial pneumonitis, Acute kidney injury ORPHA:330021
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral reflux, Hydronephrosis OMIM:115470
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Pearson Syndrome
Renal insufficiency, Proteinuria, Small for gestational age, Cardiac conduction abnormality, Hypo... ORPHA:699
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Pulmonic stenosis OMIM:616737
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Wolcott-Rallison Syndrome
Renal insufficiency, Chronic kidney disease ORPHA:1667
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Self-injuriou... ORPHA:847
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Pulmonar... OMIM:618454
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp... ORPHA:79086
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Vesicoureteral reflux, Failure to thrive, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Attention deficit hyperacti... OMIM:616580
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Obesity OMIM:619471
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Palpitations, Elevated circulating creatine kinase concentration OMIM:255125
Ogden Syndrome
Global glomerulosclerosis, Eczema, Polycystic kidney dysplasia, Recurrent otitis media, Enlarged ... OMIM:300855
Distal Deletion 12Q
Hyperactivity, Failure to thrive in infancy, Ectopic kidney, Self-mutilation, Obesity, Polycystic... ORPHA:96149
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Micropenis, Abnormal repetitive mannerisms, Hydronephrosis OMIM:301040
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction ORPHA:160
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Pulmonary arterial hypertension,... ORPHA:464738
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Telangiectasia ORPHA:247262
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Bruising susceptibility,... ORPHA:85448
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat... ORPHA:397715
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:617557
White-Kernohan Syndrome
Hydroureter, Obesity, Horseshoe kidney, Attention deficit hyperactivity disorder, Hydronephrosis OMIM:619426
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:79240
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c... ORPHA:810
Avian Influenza
Pneumonia, Hepatitis, Conjunctivitis, Acute kidney injury, Infectious encephalitis, Myelitis ORPHA:454836
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Pulmonic stenosis, Hypertrophic cardiomyopathy, Failure to thrive, Hydronephrosis OMIM:115150
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Floating-Harbor Syndrome
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Small for gestationa... ORPHA:2044
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis ORPHA:444072
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Stillbirth, ... OMIM:308050
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Oligur... ORPHA:319213
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Giant Cell Arteritis
Hematuria, Arthritis, Renal insufficiency, Pericarditis ORPHA:397
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Micropenis,... ORPHA:163979
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Hydronephrosis, Bruxism, Vesicoureteral reflux, Recurrent p... ORPHA:48652
Arteriosclerosis, Severe Juvenile
Chronic kidney disease OMIM:208060
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Cardiac conduction abnormality, A... ORPHA:353281
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Lead Poisoning
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Skin rash ORPHA:330015
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis ORPHA:210122
Raine Syndrome
Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease ORPHA:469
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... OMIM:300908
Otopalatodigital Syndrome Type 2
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction ORPHA:90652
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Behçet Disease
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... ORPHA:117
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Urachus fistula, Mitral regurgitation, Pulmonic stenosis, Pul... OMIM:612541
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Failure to thrive in infancy, Hydronephrosis, Pulmonic stenosis ORPHA:1340
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Pulmonary arterial hypertension, Failure to thrive, Hydronephrosis OMIM:309350
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Stevens-Johnson Syndrome
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis ORPHA:36426
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... ORPHA:90324
Cholera
Decreased urine output, Abnormality of renal excretion, Acute kidney injury, Aspiration pneumonia ORPHA:173
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Recurrent pneumonia, Stage ... ORPHA:731
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... OMIM:270400
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Increased circulating ferritin concentration OMIM:194380
Tarp Syndrome
Failure to thrive, Hydronephrosis, Horseshoe kidney ORPHA:2886
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthriti... OMIM:249100
Colchicine Poisoning
Myocarditis, Renal insufficiency, Oliguria ORPHA:31824
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Horseshoe kid... ORPHA:2092
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis ORPHA:537
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Occipital Horn Syndrome
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria... ORPHA:79282
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Fanconi Anemia, Complementation Group I
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Stage 5 chronic kidney disease, Chronic hep... ORPHA:101330
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Craniofacioskeletal Syndrome
Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Trisomy 18
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Microphthalmia, Short stature OMIM:243310
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Int... ORPHA:363958
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Hydronephrosis ORPHA:2745
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Coccidioidomycosis
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... ORPHA:228123
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Hyperactivity, Hydronephrosis OMIM:251260
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... ORPHA:457212
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Stillbi... OMIM:229850
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... ORPHA:3261
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder ORPHA:29073
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d... OMIM:212093
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:251230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
Cousin Syndrome
Hydronephrosis OMIM:260660
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti... ORPHA:2331
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Dilated cardiomyopathy, Polyphagia, ... ORPHA:1606
Glycogen Storage Disease Xii
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... OMIM:611881
Waldenström Macroglobulinemia
Renal insufficiency ORPHA:33226
Trisomy 8P
Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Failure to thrive, Hydronephrosis OMIM:269150
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:248700
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Dubowitz Syndrome
Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder ORPHA:235
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Micropenis, Hydron... OMIM:268310
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:613451
Fanconi Anemia, Complementation Group F
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation OMIM:603467
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Acute Adrenal Insufficiency
Decreased urinary potassium, Renal insufficiency, Renal salt wasting ORPHA:95409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ureteropelvic junction obstruction, Large for gestational age, Viol... OMIM:280000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele, Growth delay OMIM:614424
Alg9-Cdg
Hypoplasia of the bladder, Tricuspid regurgitation, Ureteral hypoplasia, Abnormal renal artery mo... ORPHA:79328
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Small for gestational age, Hypertension, Arrhythmia, Severe fai... OMIM:133540
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Neonatal death, Tricuspid regurgitation, Portal h... OMIM:619534
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos, Short stature ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Infection-Related Hemolytic Uremic Syndrome
Anuria, Pneumonia, Myocarditis, Pancreatitis, Oliguria, Septic arthritis, Acute kidney injury, Ne... ORPHA:544482
Schinzel-Giedion Syndrome
Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
3Mc Syndrome 1
Conjunctival telangiectasia, Hydronephrosis OMIM:257920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Cardia... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Cardia... ORPHA:353277
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... ORPHA:904
Temtamy Syndrome
Microphthalmia OMIM:218340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Abnormality of the ... ORPHA:2162
Gabriele-De Vries Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Attention deficit hyperactivity disorder, U... ORPHA:506358
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Robinow Syndrome
Multicystic kidney dysplasia, Small for gestational age, Pulmonic stenosis, Webbed penis, Micrope... ORPHA:97360
Sepsis In Premature Infants
Enterocolitis, Oliguria, Reversible renal failure ORPHA:90051
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis ORPHA:449432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... OMIM:615287
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Apert Syndrome
Hydronephrosis OMIM:101200
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios ORPHA:3301
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Right-to-left shunt, Dilatation of the ... OMIM:265380
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios OMIM:619879
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Ascites ORPHA:974
Jacobsen Syndrome
Multicystic kidney dysplasia, Aortic valve stenosis, Hydronephrosis, Attention deficit hyperactiv... ORPHA:2308
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis, Bruxism ORPHA:352665
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Hyperactivity, Raynaud phenome... ORPHA:3310
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis, Failure to thrive OMIM:216400
Gaucher Disease Type 3
Hematuria, Pulmonary arterial hypertension, Proteinuria ORPHA:77261
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Nephrotic syndrome, Mitral regurgitation, Ecchymos... OMIM:601776
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Orofaciodigital Syndrome I
Hypertension, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Hermansky-Pudlak Syndrome
Renal insufficiency ORPHA:79430
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, ... OMIM:266920
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Gaucher Disease
Abnormal bleeding, Proteinuria, Elevated circulating C-reactive protein concentration, Hematuria,... ORPHA:355
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease OMIM:608612
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Pulmonic stenosis, Dysphagia, Abnormal repetitive mannerisms,... OMIM:616268
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:364577
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Rubinstein-Taybi Syndrome 1
Hyperactivity, Hypospadias, Small for gestational age, Impulsivity, Hydronephrosis, Truncal obesi... OMIM:180849
Floating-Harbor Syndrome
Hypospadias, Aggressive behavior, Glandular hypospadias, Nephrocalcinosis, Congenital posterior u... OMIM:136140
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227990
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Mosaic Variegated Aneuploidy Syndrome
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit... ORPHA:1052
Lysinuric Protein Intolerance
Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Oroticaciduria, Pancreatitis OMIM:222700
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly, Short stature OMIM:619148
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... ORPHA:84
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Primary Sclerosing Cholangitis
Renal insufficiency, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis ORPHA:171
Charge Syndrome
Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, Vesicoureteral ... ORPHA:138
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Failure to thrive, Hydronephrosis ORPHA:83617
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormal renal morphology, Mitral regurgitation, Pulmonic stenosis, Att... ORPHA:363700
Cranioectodermal Dysplasia 2
Renal insufficiency, Recurrent pneumonia, Cholangitis, Renal cyst OMIM:613610
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Erythema nodosum, Nephrolithiasis, Hypercalciuria, ... ORPHA:797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Nephrolithiasis, Pulmonic stenosis, Dysphagia, Vesicoureteral reflux, Hydro... ORPHA:438213
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Obesity, Hydronephrosis, Hypocalcemia, Attention ... OMIM:188400
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:193
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227982
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms, Proteinuria, Cerebral hemorrhage OMIM:616682
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Campomelic Dysplasia
Failure to thrive, Hypospadias, Hydronephrosis OMIM:114290
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Dysphagia, Vesicoureteral reflux, Corneal neovascularization ORPHA:2363
Mosaic Trisomy 1
Microphthalmia, Increased nuchal translucency, Polyhydramnios ORPHA:1692
Martsolf Syndrome 1
Microphthalmia, Short stature OMIM:212720
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Yellow Fever
Renal insufficiency, Anuria, Skin rash, Acute pancreatitis, Acute kidney injury ORPHA:99829
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Aortic valve stenosis, Ureteropelvic junction ... ORPHA:2729
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Compulsive behav... OMIM:135900
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios ORPHA:2166
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Williams-Beuren Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho... OMIM:194050
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Failure to thrive... ORPHA:2273
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Hydronephrosis OMIM:236680
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature OMIM:601675
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthrit... ORPHA:99826
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Right ventricular outlet tract obstruction, Renal duplication OMIM:180700
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Leptospirosis
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Optic neuritis, Acute kidney... ORPHA:509
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Failure to thrive, Wide pe... ORPHA:3455
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Myocarditis, Glycosuria, Acute kidney injury ORPHA:466677
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... OMIM:223370
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia OMIM:606170
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Pulmon... ORPHA:709
Charge Syndrome
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Pulmonic steno... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r... OMIM:619488
Johanson-Blizzard Syndrome
Hypospadias, Small for gestational age, Urethrovaginal fistula, Portal hypertension, Conjugated h... OMIM:243800
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis OMIM:147920
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Focal Dermal Hypoplasia
Ureteral duplication, Horseshoe kidney, Telangiectasia, Bifid ureter, Hydronephrosis OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature ORPHA:464
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Dysphagia, Mi... ORPHA:261537
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature OMIM:227650
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Decreased body weight, Hypospadias, Urinary incontinence, Abnormali... ORPHA:2152
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios ORPHA:3103
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Hyphema, Dysp... ORPHA:261552
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Cardiomyopathy, Arrhythmia, Pulmonic stenos... OMIM:312870
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
2Q31.1 Microdeletion Syndrome
Microphthalmia, Short stature ORPHA:251014
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia, Rhizomelia OMIM:616300
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Renal hypoplasia, Pulmonic stenosis, Decreased body weight, Hy... OMIM:261540
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
African Trypanosomiasis
Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myocarditis, Optic neuritis, ... ORPHA:3385
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Cholangitis OMIM:124000
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:249000
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hypospadias, Hydronephrosis OMIM:304120
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature OMIM:308300
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Pulmonary edema ORPHA:137675
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:608670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation OMIM:620186
Myhre Syndrome
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra... OMIM:139210
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Cardiomyopathy, Renal dysplasia ORPHA:480880
Costello Syndrome
Renal insufficiency OMIM:218040
Viss Syndrome
Epidural hemorrhage, Failure to thrive, Dysphagia, Pulmonary arterial hypertension, Bruising susc... OMIM:619472
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical h... ORPHA:567
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616975
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca ORPHA:79078
Sialuria
Attention deficit hyperactivity disorder, Increased level of N-acetylneuraminic acid in urine OMIM:269921
Yunis-Varon Syndrome
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... ORPHA:3472
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Acute Liver Failure
Acute kidney injury, Skin rash, Hepatitis ORPHA:90062
Pmm2-Cdg
Pericarditis, Angina pectoris, Proteinuria, Reduced thyroxin-binding globulin, Intracranial hemor... ORPHA:79318
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Isolated Arrhinia
Microphthalmia ORPHA:1134
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Fanconi Anemia, Complementation Group D2
Microphthalmia, Short stature OMIM:227646
Fontaine Progeroid Syndrome
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation OMIM:612289
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Chronic kidney disease, Septic arthritis, Recurrent aspiration pneumonia ORPHA:642
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Short stature OMIM:309801
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Eisenmenger Syndrome
Renal insufficiency, Bacterial endocarditis ORPHA:97214
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Microphthalmia With Limb Anomalies
Microphthalmia, Short stature, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia, Delayed puberty ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... ORPHA:468631
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Mend Syndrome
Microphthalmia, Short stature ORPHA:401973
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microphthalmia, Syndromic 2
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia OMIM:300166
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Steinfeld Syndrome
Microphthalmia OMIM:184705
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow... OMIM:613406
Monosomy 9P
Microphthalmia ORPHA:261112
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... ORPHA:508488
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Pallister-Hall Syndrome
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation ORPHA:672
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Renpenning Syndrome 1
Microphthalmia, Short stature OMIM:309500
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... OMIM:113620
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r... OMIM:268300
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy ORPHA:649
Mowat-Wilson Syndrome
Microphthalmia, Short stature OMIM:235730
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800
Nonaka Myopathy
Elevated circulating creatine kinase concentration OMIM:605820
Gne Myopathy
Cardiomyopathy ORPHA:602
Sialuria
Prolonged prothrombin time, Attention deficit hyperactivity disorder ORPHA:3166

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gne

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gne.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gnetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnetm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gneem1(IMPC)Mbp Exon Deletion Mice

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