Gene Summary

Name:
cysteine rich transmembrane BMP regulator 1 (chordin like)
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
trunk curl Crim1em1(IMPC)Wtsi HET Early adult 2.06×10-05
preweaning lethality, complete penetrance Crim1em1(IMPC)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Anti-nuclear antibody assay

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 50 images

Human diseases caused by Crim1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Crim1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypertension, Stage 5 chronic kidney dis... OMIM:603965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Focal Segmental Glomerulosclerosis 5
Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Focal segmental... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Hypertension, Renal insufficiency, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Reduced carnitine O-palmitoyltransferase level, Tubulointerstitial nephritis, Red-brown urine, My... ORPHA:228302
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Chronic tu... OMIM:602088
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Hypouricemia, Renal, 1
Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Increased urinary urate, Acute kidn... OMIM:220150
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatic failure, Arrhythmia, Reduced carnitine O-palmitoyltransferase lev... ORPHA:157
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:613944
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Polycystic kidney dysplasia, ... OMIM:263200
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly OMIM:236110
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis OMIM:617056
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatic failure, Arrhythmia, Reduced carnitine O-palmitoyltransferase lev... ORPHA:228308
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Renal dysplasia, R... OMIM:615993
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Hypertension, Stage 5 chroni... OMIM:618913
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Hypertension, Renal insufficiency, Stage 5 chronic... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Nephropathy... OMIM:137950
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Dilated cardiomyopathy, Nephrotic syndrome, IgA deposition in the gl... OMIM:616730
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Aortic... ORPHA:730
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Aapoaiv Amyloidosis
Sinus bradycardia, Glomerular sclerosis, Atrial flutter, Proteinuria, Hypertrophic cardiomyopathy... ORPHA:439232
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Acrorenal Syndrome, Autosomal Recessive
Clinodactyly, Decreased numbers of nephrons, Renal hypoplasia, Split foot, Renal insufficiency, S... OMIM:201310
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:161950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Decreased liver function, Elevated hepatic transami... OMIM:617093
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Hypoplasia of the ulna, Renal hypoplasia, Hypoplasia of the radius, Syndactyly OMIM:212780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Renal tubular atrophy, Nephritis, Nephropathy, Renal insuff... OMIM:162000
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Mpdu1-Cdg
Eczema, Renal cortical cysts, Abnormal enzyme/coenzyme activity ORPHA:79323
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Colitis, Minimal change glomer... OMIM:617006
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Renal insufficiency ORPHA:2613
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Dilated cardiomyopathy, Nephrotic syndrome, IgA deposition in the gl... OMIM:618348
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Gastrointestinal hemorrhage, Proteinuria, Congestive heart failure, Decreased... ORPHA:85450
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Coenzyme Q10 Deficiency, Primary, 1
Hepatic failure, Glomerular sclerosis, Nephrotic syndrome, Hypertrophic cardiomyopathy, Recurrent... OMIM:607426
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Polycystic ovaries, Hematuria, Proteinuria, Membranoproliferative glomerulone... OMIM:608709
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Scl... ORPHA:93126
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Nephroblastoma, Renal insufficienc... ORPHA:347
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndact... OMIM:236500
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Hypertensio... OMIM:616818
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Cardiomyopathy, Hepatic failure, Portal hypertension OMIM:232500
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Nail-Patella Syndrome
Absent distal interphalangeal creases, Proteinuria, Clinodactyly of the 5th finger, Biceps aplasi... OMIM:161200
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Cerebral atrophy, Proteinuria, Pri... OMIM:619609
Preeclampsia/Eclampsia 1
Hypertension, Elevated hepatic transaminase, Proteinuria OMIM:189800
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hypertension... OMIM:232200
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease, Hypertension ORPHA:3156
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Microphthalmia, Postaxial hand ... OMIM:615665
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Decreased liver function OMIM:614870
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Decreased glomerular filtration rate, Nephrocalcinosis, Nephrolithiasis OMIM:601198
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Genu valgum, Hypospadias ORPHA:1381
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Jaundice, Hydroureter OMIM:224250
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Congestive heart failure, Hypotensi... ORPHA:31826
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Hypertensio... OMIM:601894
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hypertension... OMIM:232220
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Rena... ORPHA:1909
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly, Hypoplasia of penis ORPHA:2935
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Elevated hepa... OMIM:614817
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Hypertension, Renal insuffi... OMIM:618061
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Pneumonia, Gastrointestinal hemorrhage, Proteinuria, Elevated gamma-glutamy... ORPHA:247691
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Talipes equinovarus, Edema, Rocker bottom foot OMIM:616570
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Mesomelia, Syndactyly OMIM:228940
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Pulmonic stenosis, Hydroureter OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Nephronophthisis 15
Nephronophthisis, Hepatic failure OMIM:614845
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Stag... ORPHA:650
Galactosemia I
Decreased liver function, Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Al... OMIM:230400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Chronic kidney disease, Macroscopic hematuria, Albuminuria, Hypertension, Mic... ORPHA:567546
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangial hypercellula... ORPHA:329918
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Renal hypoplasia, Optic nerve hypoplasia, Hyperechogenic kidneys OMIM:617914
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Dent Disease 2
Increased circulating lactate dehydrogenase concentration, Nephrocalcinosis, Elevated circulating... OMIM:300555
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Orthostatic hypotension, Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neuroge... OMIM:191800
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycy... OMIM:615382
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Sinus tachycardia, Elevated urinary dopamine, Hematuria, Proteinuria, Hyper... ORPHA:276621
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
8P23.1 Duplication Syndrome
Hydronephrosis, Pulmonic stenosis ORPHA:251076
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Congestive heart failure, Hypertrophic cardiomyopathy, Glomerulopathy, H... ORPHA:225
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Jaundice OMIM:614866
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Arima Syndrome
Occipital meningocele, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerst... OMIM:243910
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Reduced xanthine dehydrogenase level, Xanthine nephr... OMIM:278300
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Hypert... ORPHA:84090
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Elevated circulating alkaline phosphatase concentration OMIM:174050
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Renal cyst, Urinary retention, Recurrent skin infections, Gastrointestina... ORPHA:79404
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Dysuria, Decreased glomerular filtration rate, Enur... ORPHA:93598
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Glomerular sclerosis, Chilblains, Portal hypertension, Proteinuria, Micropeni... OMIM:619487
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Transient ischemic attack, Hypertension, Renal insufficiency, Ce... OMIM:242900
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Patent ductus arteriosus, Proteinuria, ... OMIM:617303
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Harrod Syndrome
Renal cortical microcysts, Hypospadias OMIM:601095
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Preeclampsia
Elevated systolic blood pressure, Polycystic ovaries, Acute kidney injury, Proteinuria, Elevated ... ORPHA:275555
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Beta 2-microglobulinuria, Sterile pyuria, Decre... ORPHA:91500
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Syndactyly ORPHA:294975
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
C Syndrome
Renal cortical cysts, Patent ductus arteriosus OMIM:211750
Systemic Sclerosis
Raynaud phenomenon, Recurrent skin infections, Acute kidney injury, Proteinuria, Arthritis, Nail ... ORPHA:90291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Elevated circulating alkaline phosphatase concentration, Vesicoureteral reflux OMIM:618548
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Proteinuria, Decreased glomerular filtration rate, Chronic pancreat... OMIM:232240
Pierson Syndrome
Diffuse mesangial sclerosis, Uveal ectropion, Progressive microcephaly, Proteinuria, Microcephaly... OMIM:609049
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Tubulointerstitial nephrit... ORPHA:488627
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Hypertension, Nephroblastoma, Nephropathy, Stage... OMIM:194080
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Micropenis, Renal hypoplasia, Partial duplication of t... OMIM:617926
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Al Amyloidosis
Nephrotic syndrome, Gastrointestinal hemorrhage, Arrhythmia, Proteinuria, Jaw claudication, Abnor... ORPHA:85443
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Sinus tachycardia, Hematuria, Proteinuria, Elevated urinary dopamine, Hyper... ORPHA:29072
Myh9-Related Disease
Proteinuria, Myocardial infarction, Spontaneous, recurrent epistaxis, Nephritis, Elevated hepatic... ORPHA:182050
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Gastrointestinal... OMIM:276700
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Renal dysplasia, Meningocele, Hyperechogenic kidneys, Elevated hepatic tran... ORPHA:397715
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Arrhythmia, Myocardial infarction, Abnormal lactate ... ORPHA:54057
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Renal cortical cysts, Renal cyst ORPHA:1692
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Lens subluxation, Lens coloboma, Metaphyseal dysplasia, Microspherophakia OMIM:157151
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Cednik Syndrome
Nephrotic syndrome, Congestive heart failure, Proteinuria ORPHA:66631
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly, Split hand OMIM:246560
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Hypertension, Nephropathy, Skin rash OMIM:105200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Patent ductus arteriosus, Hydronephrosis, Death in childhood, Aminoaci... OMIM:214100
Nephronophthisis 13
Stage 5 chronic kidney disease, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Nephronophthis... OMIM:614377
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Cerebral atrophy, Nephrotic syndrome, Glomerular sclerosis, Proteinu... OMIM:617729
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, Bowing of the long bones, Renal cyst, Short long bone, Postaxial polydactyly, Hydr... OMIM:614091
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Renal hypoplasia, Ketonuria, Microphthalmia, Oligohydramnios OMIM:619053
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Hy... OMIM:203780
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Renal ins... ORPHA:2704
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Retinal hemorrhage, Hematuria, Nephropathy, Renal insufficiency, Raynaud phenomenon, ... OMIM:611773
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Proteinuria, Hypertension, Hemate... ORPHA:340
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Rena... OMIM:618914
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Hypertension, Abnormal renal physiology, Tachycardia OMIM:223900
Schimke Immuno-Osseous Dysplasia
Proteinuria, Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack... ORPHA:1830
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Cerebral edema, Congestive heart failure, Hypertrophic cardiomyopathy, Di... OMIM:611126
Fechtner syndrome
Stage 5 chronic kidney disease, Nephritis, Hematuria, Proteinuria OMIM:153640
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-4 finger syndactyly, 2-3 toe syndactyly, Periorbital wrinkles OMIM:227210
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Vasculitis, Renal insufficiency, Arthritis ORPHA:375
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Bardet-Biedl Syndrome 3
Brachydactyly, Renal hypoplasia, Postaxial polydactyly OMIM:600151
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate, Aortic... OMIM:203500
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Polycystic ovaries, Proteinuria, Periodontiti... ORPHA:79259
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Hypoplasia of penis, Abnormality of the upper ... ORPHA:2547
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Increased urine alpha-ketoglutarate concentration, Congestive heart failure, Keto... OMIM:619355
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation OMIM:616733
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Cardiomyopathy, Nephrob... OMIM:130650
Heme Oxygenase 1 Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... OMIM:614034
Nanophthalmos 4
Microphthalmia OMIM:615972
Desmoid Tumor
Hydronephrosis, Gastrointestinal hemorrhage, Abnormality of the upper urinary tract ORPHA:873
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Decreased liver function, Elevated hepatic transaminase, Multiple renal cysts OMIM:614883
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Verheij Syndrome
Renal agenesis, Clinodactyly, Renal cyst, Renal hypoplasia, Short 5th finger, Hip dislocation OMIM:615583
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Decreased liver function, Renal dysplasia, ... OMIM:614922
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Simple Cryoglobulinemia
Raynaud phenomenon, Viral hepatitis, Nephrotic syndrome, Gastrointestinal hemorrhage, Mesangial h... ORPHA:91139
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Cerebral edema, Congestive heart failure, Cerebellar hemorrhage, Hypertro... ORPHA:99901
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Pulmonic stenosis, ... OMIM:610205
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Proteinuria, Rhizomelia, Renal hypoplasia, Glomerulonephritis, Chronic tubulointer... OMIM:614376
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Renal tubular... OMIM:603860
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Recurrent otitis media, Renal hypoplasia OMIM:618494
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Denys-Drash Syndrome
Nephrotic syndrome, Proteinuria, Hypertension, Nephroblastoma, Nephropathy ORPHA:220
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane disintegratio... OMIM:613159
Adams-Oliver Syndrome 6
Brachydactyly, Renal hypoplasia, Foot oligodactyly, Syndactyly OMIM:616589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal dysplasia, Renal cyst OMIM:615287
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Fanconi Anemia, Complementation Group I
Absent thumb, Horseshoe kidney, Renal hypoplasia, Optic nerve hypoplasia, Short thumb, Hypoplasia... OMIM:609053
Weill-Marchesani Syndrome 3
Brachydactyly, Shallow anterior chamber, Pulmonic stenosis, Microspherophakia, Aortic valve steno... OMIM:614819
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Hypertension, Renal insufficiency, Stage 5 chronic kidney d... OMIM:166300
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Urethral obstruction, Renal dysplasia, Preaxial hand polydactyly, Talipes equin... OMIM:601389
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Hypertension, Nephropathy, Proteinuria ORPHA:1192
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Vasospasm, Cerebral hemorrhage, Transient ischemic attack, Subdural hemorrhage, A... ORPHA:284388
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Joubert Syndrome 20
Renal cyst OMIM:614970
Bresek Syndrome
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Renal dysplasia, Postaxial hand polydac... ORPHA:85284
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Polyuria, Renal salt wasting, Hypernatriuria, Renal insuffi... OMIM:613090
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Proteinuria, Aplasia/Hypoplasia of the thumb, Renal hypoplasia, Oligodac... ORPHA:1307
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Bowing of the long bones, Toe syndactyly, Short palm, Micropenis, Renal hypoplasi... ORPHA:171839
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Lujo Hemorrhagic Fever
Oliguria, Subconjunctival hemorrhage, Cerebral edema, Ecchymosis, Purpura, Hypotension, Myocardit... ORPHA:319213
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Renal tubular atrophy, Ren... OMIM:614748
Trichohepatoenteric Syndrome 1
Hepatic failure, Renal cortical microcysts, Aortic regurgitation, Jaundice, Pulmonic stenosis, Ga... OMIM:222470
Duane-Radial Ray Syndrome
Small thenar eminence, Renal malrotation, Hydronephrosis, Sandal gap, Short thumb, Aplasia of met... OMIM:607323
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Pneumonia, Tubulointerstitial fibrosis, Recurrent sinusitis, Rheumatoid a... OMIM:607944
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Recurrent urinary tract infections, Osteomyelitis, Neurogenic bladder OMIM:619218
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Cerebral edema OMIM:248600
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Slender finger, Cerebral atrophy, Nephrotic syndrome, Hypoplasia of ... OMIM:251300
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Increased circulating lactate dehydrogenase con... ORPHA:470
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Renal hypoplasia, Chronic kidney disease OMIM:617661
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Clinodactyly, Brachydactyly, Syndactyly OMIM:610023
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy OMIM:607598
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Megalocornea, Microspherophakia, Deep anterior chamber, Ectopia lentis OMIM:251750
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis OMIM:614380
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Renal insufficiency OMIM:611209
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Nephritis OMIM:609057
Blindness-Scoliosis-Arachnodactyly Syndrome
Arachnodactyly, Cataract, Lens subluxation, Microphakia ORPHA:171844
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Vesicoureteral reflux, Renal hypoplasia/aplasia ORPHA:1166
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Moderate albuminuria, Hematuria, Acute kidney injury, Dysuria, Abnormal penis morpholo... ORPHA:95455
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Increased circulating lactate dehydrogenase concentration, Myositis, Nephroti... ORPHA:93552
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Prune Belly Syndrome
Patent ductus arteriosus, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Ureth... OMIM:100100
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Argininosuccinic aciduria OMIM:603471
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Renal cell carcinoma OMIM:135150
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Dystonia 31
Abnormal posturing OMIM:619565
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:179613
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Even-Plus Syndrome
Renal hypoplasia, Dysplasia of the femoral head, Recurrent urinary tract infections, Oligohydramn... OMIM:616854
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Chronic otitis media, Patent ductus arteriosus OMIM:609757
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatic failure, Chronic kidney disease OMIM:615630
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Hypertension, Renal insufficienc... OMIM:613095
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization OMIM:180080
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Oligohydramnios OMIM:616258
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers, Hand cl... ORPHA:1617
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Renal insufficiency, Mitral regurgitation, Hepatic cysts OMIM:173900
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Abnormality of the urinary system, Cutaneous finger syndactyl... DECIPHER:46
Cryoglobulinemic Vasculitis
Viral hepatitis, Gastrointestinal hemorrhage, Hematuria, Proteinuria, Keratoconjunctivitis sicca,... ORPHA:91138
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Hyperechogenic kidneys, Ta... OMIM:613885
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Hypertrophic... ORPHA:330001
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Recurrent pancreatitis, Renal cortical adenoma, Polycystic kidney dysplasia, Pap... OMIM:145001
Alagille Syndrome 1
Renal tubular acidosis, Hepatic failure, Multiple small medullary renal cysts, Renal hypoplasia, ... OMIM:118450
Dural Sinus Malformation
Cerebral edema, Cerebellar hemorrhage, Subarachnoid hemorrhage, Hypoplasia of the frontal lobes, ... ORPHA:97339
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Eczema, Aminoaciduria, Erythroderma, Skin rash ORPHA:634
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Proteinuria ORPHA:369
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Cerebral atrophy, Cardiomyopathy, Death in infancy, Abnormal cerebral white matte... OMIM:618321
Fanconi Anemia, Complementation Group F
Absent thumb, Renal hypoplasia, Short thumb, Hypoplasia of the radius, Microphthalmia, Polyhydram... OMIM:603467
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Aortic valve stenosis, Hypospadias, Pulmonic stenosis OMIM:220210
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930