Gene Summary

Name:
cysteine rich transmembrane BMP regulator 1
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
preweaning lethality, complete penetrance Crim1em1(IMPC)Wtsi HOM   Early adult 0.00
trunk curl Crim1em1(IMPC)Wtsi HET Early adult 2.06×10-05

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Viewing: all phenotypes
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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

Anti-nuclear antibody assay

Images

4 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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 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
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Mesangial hypercellularity, Death in childhood, Enterocolitis... OMIM:620425
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hepatic failure, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, ... ORPHA:157
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly OMIM:236110
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Myo... ORPHA:228308
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculitis, Unilate... ORPHA:49041
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... ORPHA:439232
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst OMIM:617056
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte... OMIM:263200
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... ORPHA:567544
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... OMIM:618061
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu... OMIM:162000
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena... OMIM:615993
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Mpdu1-Cdg
Renal cortical cysts, Eczematoid dermatitis, Abnormal circulating enzyme concentration or activity ORPHA:79323
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Erythroderma, Death in infancy OMIM:609180
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... OMIM:617006
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Decreased l... ORPHA:85450
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Death in childhood, Enterocolitis, Nephrotic syndrome, Mild p... OMIM:301108
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nail-Patella Syndrome
Keratoconus, Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the... OMIM:161200
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Glycogen Storage Disease Iv
Hepatic failure, Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis, Bradycardia OMIM:232500
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Galloway-Mowat Syndrome 10
Cerebral atrophy, Secondary microcephaly, Stage 5 chronic kidney disease, Podocyte foot process e... OMIM:619609
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Joubert Syndrome 22
Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly, Microphthalmia, Postaxial hand ... OMIM:615665
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... ORPHA:1909
Nephronophthisis 15
Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury, Abnormal circulating lactate dehydrogenase concentra... ORPHA:2134
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hyperte... OMIM:615862
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Proteinuria, Gl... OMIM:607426
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis OMIM:601198
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Galactosemia I
Aminoaciduria, Galactosuria, Decreased liver function, Elevated circulating aspartate aminotransf... OMIM:230400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Genu valgum, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension OMIM:189800
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Gastrointestinal hemorrhage, Elevated gamma-glutamyltransferase level, Ca... ORPHA:247691
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Nephrotic Syndrome, Type 8
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Stage 5 chronic kid... OMIM:615244
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:276621
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Oligohydramnios, Single transverse palmar crease, Redundant ... OMIM:236500
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Hepatorenocardiac Degenerative Fibrosis
Elevated circulating hepatic transaminase concentration, Hyperechogenic kidneys, Hypertrophic car... OMIM:619902
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Sulfite oxidase deficiency, R... ORPHA:3467
8P23.1 Duplication Syndrome
Hydronephrosis, Pulmonic stenosis ORPHA:251076
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... OMIM:300555
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Ureterocele, Urinar... ORPHA:79404
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... ORPHA:84090
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of... ORPHA:2256
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Sterile pyuria, Beta 2-mi... ORPHA:91500
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Elevated circulating alkaline phosphatase concentration OMIM:174050
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration OMIM:618548
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Elevated circulating hepatic transaminase concentration, ... OMIM:619487
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu... OMIM:611126
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:29072
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Congestive heart failure, Hyp... OMIM:617303
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
C Syndrome
Renal cortical cysts, Patent ductus arteriosus OMIM:211750
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Xanthinuria, Type I
Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithiasis, Reduced ... OMIM:278300
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Syndactyly ORPHA:294975
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre... OMIM:232240
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Intestinal bleeding, Right ventricular failure, Nail... ORPHA:90291
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie... ORPHA:182050
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Pierson Syndrome
Death in childhood, Hypoplasia of the ciliary body, Diffuse mesangial sclerosis, Microcoria, Micr... OMIM:609049
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Death in childhood, Hydronephrosis, Prolonged neonatal jaundice, Albuminuria, Hypo... OMIM:214100
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu... OMIM:611773
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... OMIM:610984
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension OMIM:105200
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Hyperechogenic kidneys, Renal cortical c... ORPHA:397715
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hypospadias, Elevated gamma-glutamyltransferase level, Increased circulatin... OMIM:614866
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Oligohydramnios, Single transverse palmar crease, Microphthalmia OMIM:619053
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Abnormal circulating lactate dehydrogenase concentration, Renal insufficienc... ORPHA:54057
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, ... OMIM:212780
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Congestive heart failure ORPHA:66631
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Cardiomyopathy, Oligohydramnios, Astigmatism, Cerebral edema, Cardiac arrest OMIM:617713
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Edema, Microphthalmia OMIM:616570
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:2924
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Micromelia, Ascites, Poly... OMIM:614091
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Decreased lecithin cholesterol acyl transferase level, Renal insufficiency OMIM:245900
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Hypoplasia of the corpus callo... OMIM:618914
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Ulcerative colit... ORPHA:79259
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hepatic fa... OMIM:276700
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne... OMIM:130650
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein... ORPHA:85445
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Split-Hand/Foot Malformation 3
Camptodactyly, Renal hypoplasia, Split hand OMIM:246560
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... OMIM:614883
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Gastrointestinal hemorrhage ORPHA:873
Combined Oxidative Phosphorylation Deficiency 59
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Severely reduced le... OMIM:620646
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re... OMIM:242900
Joubert Syndrome 20
Renal cyst OMIM:614970
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Decreased liver function, Renal insufficiency, Renal tubular ac... OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, Congestive h... OMIM:619355
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease... OMIM:614376
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Microphthalmia, Pol... ORPHA:2547
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation, Renal dysplasia OMIM:616733
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co... OMIM:614034
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart fail... ORPHA:99901
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop... OMIM:601389
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... OMIM:603860
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated ci... OMIM:620010
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation OMIM:619858
Simple Cryoglobulinemia
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Congestive heart failure, Re... ORPHA:91139
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria ORPHA:1192
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Facial telangiectasia, Pulmonic stenosis OMIM:620141
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Increased circulating lactate dehydrogenase co... ORPHA:470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Osteomyelitis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduri... OMIM:201450
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping fingers, Overl... OMIM:618494
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated circulati... ORPHA:275555
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Microphthalmia, Syndactyly, Ab... OMIM:607323
Maple Syrup Urine Disease, Type Ia
Cerebral edema, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydrazine ur... OMIM:248600
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Vesicoureter... OMIM:609053
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Hypotension, Oliguria, Subconjunctival hemorrhage, Shock, Renal ... ORPHA:319213
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Toe syndactyly, Renal agenesis, Bowing of the long bones, Radioulnar synostosis... ORPHA:171839
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Adams-Oliver Syndrome 6
Foot oligodactyly, Renal hypoplasia, Brachydactyly, Syndactyly OMIM:616589
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... OMIM:607944
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Galactosuria, Hepatic failure, Renal cortical microcysts, Jaundice, Hypospa... OMIM:222470
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Postaxial hand polydactyly, M... ORPHA:85284
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Hand clenching, Joint contracture of the hand, Slen... OMIM:251300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Periodontitis OMIM:619269
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Chronic otitis media, Patent ductus arteriosus OMIM:609757
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Vasospasm, Abnormal bleeding, Subdural hemorrhage, Transient ischemic attack... ORPHA:284388
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy OMIM:607598
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis OMIM:614380
Even-Plus Syndrome
Epiphyseal dysplasia, Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femo... OMIM:616854
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Stage 5 chronic kid... OMIM:613095
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Arachnodactyly ORPHA:171844
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:179613
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Renal... ORPHA:1307
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Pericardi... OMIM:613885
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d... ORPHA:93552
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Dystonia 31
Abnormal posturing OMIM:619565
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral valve OMIM:100100
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Basal ganglia calcification, Cerebral calcification, Talipes equinovarus, Partial absence of the ... OMIM:620371
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Argininosuccinic aciduria OMIM:603471
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia OMIM:617661
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic failure, Nephronophthisis OMIM:615630
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Skin rash, Hydronephrosis, Erythroderma, Ectopic kidney ORPHA:634
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated gamma-glutamyltransf... OMIM:208085
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Mitral regurgitation, Polycystic kidney dysplasia, Hypertension OMIM:173900
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy... ORPHA:369
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Glomerulopa... ORPHA:91138
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Increased circulating lactate dehydrogenase concentration OMIM:268200
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Enlarged metaphyses, Dumbbell-shaped femur, Abnormalit... ORPHA:485
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Dilated cardiomyopathy, Cerebral atrophy, Death in childhood, Abnormal cerebral white m... OMIM:618321
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Hepatic failure, Proximal tubulopathy, Death in childhood OMIM:602579
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Abnormality of the urinary system, Cutaneous finger syndactyly, 2-3 toe syndactyl... DECIPHER:46
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis OMIM:217090
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recurrent pancreatitis, Polycyst... OMIM:145001
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis, Patent ductus arteriosus OMIM:614846
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic failure, Elevated circulatin... OMIM:620454
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Schizophrenia 1
Short proximal phalanx of the 4th toe, Renal agenesis, Partially duplicated kidney, Ectopic kidne... OMIM:181510
Dural Sinus Malformation
Subdural hemorrhage, Hypoplasia of the frontal lobes, Chemosis, Subarachnoid hemorrhage, Cerebell... ORPHA:97339
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Dis... ORPHA:2377
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Microphthalmia, Ectopic k... OMIM:146510
Ritscher-Schinzel Syndrome 1