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Gene: Aprt MGI:88061

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Gene Summary

Name:
adenine phosphoribosyl transferase
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Aprtem1(IMPC)Hmgu HOM Early adult 6.00×10-05
increased respiratory quotient Aprtem1(IMPC)Hmgu HET Early adult 7.70×10-05
preweaning lethality, incomplete penetrance Aprtem1(IMPC)Hmgu HOM   Early adult 7.35×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Human diseases caused by Aprt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Aprt by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hypouricemia, Renal, 2
Nephrolithiasis OMIM:612076
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia OMIM:606996
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Hashimoto thy... ORPHA:49041
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... OMIM:260005
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Decreased fertili... ORPHA:1816
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... OMIM:314300
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalcemia, Failure to thrive ORPHA:163693
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Saccharopinuria
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria OMIM:268700
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Sebocystomatosis
Nephrolithiasis ORPHA:841
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Low posterior hairline ORPHA:1450
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... ORPHA:411543
Threoninemia
Hyperthreoninuria OMIM:273770
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Tiglic Acidemia
Aminoaciduria OMIM:275190
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Nephrosialidosis
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites OMIM:256150
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Senior-Loken Syndrome
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono... ORPHA:3156
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalcemia, Failure to thrive, Cystine... OMIM:606407
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... ORPHA:91500
Camptodactyly 1
Increased urinary taurine OMIM:114200
Macdermot-Winter Syndrome
Frontal upsweep of hair, Low anterior hairline, Hydronephrosis, Highly arched eyebrow OMIM:247990
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Nephrolithiasis, Aggressive behavior OMIM:620023
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... OMIM:232200
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Glycogen Storage Disease Ib
Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Gout, Focal segmental gl... OMIM:232220
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:304800
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Carnosinemia
Carnosinuria OMIM:212200
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Hyperparathyroidism 4
Nephrolithiasis OMIM:617343
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hyper-Beta-Alaninemia
Increased urinary taurine OMIM:237400
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Hyperprolinemia, Type I
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Flotch Syndrome
Sparse eyelashes, Abnormal eyelash morphology, Nephrolithiasis, Inflammatory abnormality of the e... ORPHA:2045
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuria, Aminoacidur... OMIM:239200
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... OMIM:618161
Hereditary Coproporphyria
Dark urine, Extension of hair growth on temples to lateral eyebrow, Porphyrinuria, Increased urin... ORPHA:79273
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... ORPHA:1909
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... OMIM:300322
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Nephronophthisis 15
Nephronophthisis OMIM:614845
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... OMIM:145001
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... OMIM:617321
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Dehydration ORPHA:28
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine ORPHA:94086
Phenylketonuria
Aminoaciduria ORPHA:716
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopenia, Leukocytosis, Chronic kidne... ORPHA:340
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration OMIM:614265
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Homocarnosinosis
Carnosinuria OMIM:236130
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... OMIM:274150
Gracile Syndrome
Aminoaciduria OMIM:603358
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad... ORPHA:223
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Abnormal glome... ORPHA:84090
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
Nephronophthisis
Renal insufficiency ORPHA:655
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... OMIM:609057
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Valinemia
Valinuria OMIM:277100
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... OMIM:615573
Hyperlysinemia, Type I
Hyperlysinuria OMIM:238700
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... ORPHA:79404
Lessel-Kubisch Syndrome
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism OMIM:618681
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dehydration ORPHA:79159
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout,... OMIM:232240
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Harderoporphyria
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level OMIM:618892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eyebrow, Abnormal ... ORPHA:634
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Elevated circulating creatine kinase concentration, Dysphagia ORPHA:352447
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... OMIM:612780
Alkaptonuria
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Hartnup Disease
Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria ORPHA:2116
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Dehydration OMIM:602722
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Lacticaciduria, Pancreatitis OMIM:619386
Pediatric Systemic Lupus Erythematosus
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Myositis, Skin rash, Discoid lupus rash, ... ORPHA:93552
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... OMIM:600995
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Hyperbiliverdinemia
Green urine OMIM:614156
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:615996
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy... OMIM:181270
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Methionine Malabsorption Syndrome
Aminoaciduria, White hair OMIM:250900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis OMIM:145980
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Hypertryptophanemia
Tryptophanuria OMIM:600627
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Skin rash ORPHA:90036
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco... OMIM:613404
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... OMIM:614034
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,... OMIM:300661
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... OMIM:614748
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration, Renal tubular dysfunction, Enuresis, Glycosuria,... ORPHA:69076
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
8P23.1 Duplication Syndrome
Hydronephrosis, Highly arched eyebrow ORPHA:251076
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Organic aciduria, ... ORPHA:79242
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... OMIM:230400
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... OMIM:610725
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... OMIM:615244
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Abnormality of the kidney, Dehydration ORPHA:99886
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Methylmalonic aciduria, Hype... OMIM:614857
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Eczema, Increased urinary sulfite level, Fine hair, Decreased urinary sulfate OMIM:272300
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Fanconi Anemia, Complementation Group O
Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis OMIM:613390
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Argininemia
Diaminoaciduria ORPHA:90
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration ORPHA:289504
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Attrv30M Amyloidosis
Nephropathy, Impotence, Abnormal renal physiology, Weight loss ORPHA:85447
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Renal cyst ORPHA:79303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Pancreatitis, Dehydration ORPHA:79312
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Aminoaciduria OMIM:250620
Glycine Encephalopathy 1
Hyperglycinuria OMIM:605899
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ... ORPHA:95455
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atro... OMIM:208085
Glutathionuria
Eczema, Urinary incontinence, Glutathionuria OMIM:231950
Saccharopinuria
Citrullinuria, Hyperlysinuria, Cystinuria ORPHA:3124
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Thrombocytopenia, Synophrys, Recurrent pneumonia, Low anterior hairline, Hirsutism, ... OMIM:617303
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... ORPHA:36913
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypocalcemia, Nephrolithiasis, Hypophosphatemia ORPHA:93160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... ORPHA:79259
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation OMIM:616733
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Aminoaciduria, Hypogonadism, Hypoplastic nipples OMIM:273400
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia ORPHA:69077
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis, Nephrolithiasis ORPHA:2387
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251120
Dermotrichic Syndrome
Aminoaciduria, Nail dystrophy ORPHA:99688
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria ORPHA:1933
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Joubert Syndrome 3
Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Acne, Hyperlipidemia, Nephrolithiasis, Increased body... ORPHA:189427
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... ORPHA:77297
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Dehydration, Erythroderma ORPHA:313
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Obesity, Hypokalemia, Abdominal obesity, Hirsutism OMIM:219090
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Frontal upsweep of hair, Hydronephrosis OMIM:619797
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ... ORPHA:1745
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochrom... ORPHA:514
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Weight loss ORPHA:97289
Hepatic Veno-Occlusive Disease
Renal insufficiency, Ascites ORPHA:890
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism OMIM:617564
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Ascites ORPHA:2123
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Chronic Hiccup
Dehydration ORPHA:396
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolithiasis, Oligozo... ORPHA:2067
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Cystoid macular edema, Micropenis OMIM:613861
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Idiopathic Achalasia
Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, Weight loss ORPHA:930
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Dehydration, Methylmalonic aciduria, Tubulointerstitial nephritis... OMIM:251000
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... ORPHA:79276
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hyperprolinemia Type 2
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... ORPHA:79101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia ORPHA:510
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Aminoaciduria ORPHA:414
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Rhinitis,... ORPHA:230
Mucopolysaccharidosis, Type X
Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria OMIM:249270
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Argininosuccinic Aciduria
Abnormal hair quantity, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa ORPHA:23
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Weight loss ORPHA:52416
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... ORPHA:188
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... ORPHA:2088
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Neutropenia, Weight l... ORPHA:537
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Renal salt wasting, Cryptorchidism, Dehydration, Oligozoospermia, ... OMIM:300200
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Long eyelashes, Horizontal eyebrow, Chronic otitis med... OMIM:609757
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive beh... ORPHA:534
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology ORPHA:79243
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia, ... OMIM:230740
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Glucose/Galactose Malabsorption
Hypertonic dehydration, Glycosuria OMIM:606824
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Renal salt wasting OMIM:203400
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juvenile rheumatoid... OMIM:607944
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Renal salt wasting OMIM:610600
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Polydipsia, Hydronephrosis, ... ORPHA:35687
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... ORPHA:90060
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Alopecia, Chr... OMIM:203800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration, Renal salt wasting OMIM:264350
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium ORPHA:231580
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections OMIM:619218
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Failure... ORPHA:90321
Myasthenic Syndrome, Congenital, 22
Cystinuria OMIM:616224
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... ORPHA:812
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... ORPHA:33110
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Reticular Dysgenesis
Chronic otitis media, Skin rash, Dehydration ORPHA:33355
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Sparse hair, Micropenis, Hydronephrosis OMIM:619185
Galloway-Mowat Syndrome 5
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... OMIM:617731
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections ORPHA:454
Musculocontractural Ehlers-Danlos Syndrome
Recurrent skin infections, Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis... ORPHA:2953
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... OMIM:256300
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Hydronephrosis ORPHA:2083
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Anasarca, Abnormal renal physiology OMIM:123550
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria OMIM:250940
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Nephrolithias... ORPHA:2785
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria, Brittle hair OMIM:616084
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Alkaptonuria
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis ORPHA:56
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... ORPHA:139402
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Dehydration OMIM:618958
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis, Low posterior hairline OMIM:179613
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Addic... ORPHA:520
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis ORPHA:375
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblain... OMIM:619487
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr... ORPHA:2298
Propionic Acidemia
Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Dehydration, Pancreatitis OMIM:606054
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria OMIM:236270
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria OMIM:615330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Chronic kidney disease, ... ORPHA:567546
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentrat... OMIM:614376
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Frontal hirsutism, Hydronephrosis, T... OMIM:618950
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Split-Hand/Foot Malformation 3
Nail dystrophy, Renal hypoplasia OMIM:246560
Dystonia-Aphonia Syndrome
Abnormal urinary odor ORPHA:412217
Tuberculosis
Weight loss ORPHA:3389
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism ORPHA:2377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Red-brown uri... ORPHA:95159
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Familial Cold Urticaria
Arthritis, Conjunctivitis, Dehydration ORPHA:47045
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Recurrent otitis media, Hydronephrosis OMIM:618494
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp... ORPHA:358
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis ORPHA:722
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... ORPHA:2552
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Dehydration OMIM:212140
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma OMIM:194072
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Red urine, Conjunctivitis, Pink urine, Hypertrichosis OMIM:263700
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Kury-Isidor Syndrome
Recurrent otitis media, Alopecia, Hydronephrosis, Hypertrichosis OMIM:619762
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hypopigmentation of hair OMIM:618541
Hereditary Hemorrhagic Telangiectasia
Hematuria, Nephrolithiasis, Cholecystitis, Microcytic anemia ORPHA:774
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... OMIM:605711
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney ORPHA:521445
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Cryptorchidism, Stag... OMIM:617575
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Wolcott-Rallison Syndrome
Ascites, Renal insufficiency, Chronic kidney disease, Dehydration ORPHA:1667
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:1926
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... OMIM:614922
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... ORPHA:89938
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Malaria
Acute kidney injury ORPHA:673
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Dehydration ORPHA:556030
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Recurrent pneumonia, Dehydration OMIM:214150
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Renal hypoplasia,... ORPHA:85284
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Edema, He... OMIM:619644
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... ORPHA:37042
Panhypophysitis
Hyponatremia, Normochromic anemia, Hyposthenuria, Polydipsia, Hashimoto thyroiditis ORPHA:95513
Beckwith-Wiedemann Syndrome
Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, N... OMIM:130650
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Even-Plus Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Rena... OMIM:616854
D-Glyceric Aciduria
Aminoaciduria, Micropenis OMIM:220120
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, He... OMIM:209950
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Conjunctivitis, Renal amyloidosis, Recurrent aphtho... OMIM:191900
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Salt craving, Hypercalcemia, Sparse axillar... ORPHA:95409
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c... ORPHA:810
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Cachexia, Anorexia, Myocarditis, Splenomegaly, Uveitis, Art... ORPHA:3452
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Low posterior hairline OMIM:220210
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Preeclampsia
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney ORPHA:275555
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pericardial effusion, ... ORPHA:36412
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis OMIM:222300
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Hypersplenism... ORPHA:731
Sarcoidosis
Hemolytic anemia, Renal insufficiency, Alopecia, Maculopapular exanthema, Hypercalcemia, Eosinoph... ORPHA:797
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis,... OMIM:269700
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis ORPHA:531151
Cranioectodermal Dysplasia 3
Short nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair OMIM:614099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Homocitrullinuria OMIM:238970
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circ... ORPHA:90038
Cholera
Abnormality of renal excretion, Dehydration, Aspiration pneumonia, Acute kidney injury, Decreased... ORPHA:173
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis OMIM:613848
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Low posterior hairline, Hydronephrosis, P... ORPHA:261290
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... ORPHA:542323
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Nephrolithiasis, Polyphagia, Hirsutism OMIM:608594
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy... OMIM:219730
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Dis... ORPHA:3378
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Aplasia of the bladder, ... ORPHA:158684
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Elevated circulating creatine kinase concentr... ORPHA:800
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Rabson-Mendenhall Syndrome
Thick hair, Long penis, Low anterior hairline, Hypertrichosis, Nephrocalcinosis, Premature grayin... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis OMIM:615926
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria OMIM:616034
Mirizzi Syndrome
Dark urine, Pancreatitis ORPHA:521219
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Wei... ORPHA:160
Beta-Ketothiolase Deficiency
Ketonuria, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperu... ORPHA:134
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... ORPHA:653
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Red-brown uri... ORPHA:79277
Leigh Syndrome
Alopecia, Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubula... ORPHA:506
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressiv... ORPHA:353281
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Obesity ORPHA:3157
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Igg4-Related Aortitis
Increased inflammatory response, Elevated circulating C-reactive protein concentration, Hypereosi... ORPHA:449400
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Zaki Syndrome
Sparse scalp hair, Renal agenesis, Sparse eyebrow, Hydronephrosis, Sparse lateral eyebrow OMIM:619648
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Male urethral meatus stenosis, Attentio... ORPHA:137605
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Zimmermann-Laband Syndrome 1
Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Long penis, Low anteri... OMIM:135500
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss,... ORPHA:60025
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Urinary incontinence, Dysphagia ORPHA:225147
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointerstitial n... OMIM:616901
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Stage... OMIM:618348
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Monosomy 22Q13.3
Renal dysplasia, Recurrent skin infections, Long eyelashes, Vesicoureteral reflux, Recurrent pyel... ORPHA:48652
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Renal salt wasting, Cryptorchidism, Dehydration, Azoospermia, Decreased fertility in... ORPHA:90791
Noonan Syndrome 4
Curly hair, Ureteral duplication, Sparse eyebrow, Cryptorchidism, High anterior hairline, Hydrone... OMIM:610733
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... OMIM:254900
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Abnormal testis morphology, Generaliz... ORPHA:317
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Felty Syndrome
Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Thrombocytopenia, Sple... ORPHA:47612
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Dehydration OMIM:615453
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Lymphedema OMIM:247410
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Fine hair ORPHA:3079
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... ORPHA:71273
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Pancreatitis ORPHA:289916
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... ORPHA:116
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation OMIM:617397
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Hydronephrosis ORPHA:2496
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Pediatric-Onset Graves Disease
Episcleritis, Hyperactivity, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil a... ORPHA:525731
Argininosuccinic Aciduria
Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa OMIM:207900
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... ORPHA:54251
Enteric Anendocrinosis
Dehydration ORPHA:83620
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... ORPHA:314588
Lysinuric Protein Intolerance
Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid... OMIM:222700
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Micropenis, Hydronephrosis, Re... OMIM:268310
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney OMIM:266810
Isolated Biliary Atresia
Dark yellow urine ORPHA:30391
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia ORPHA:2256
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... ORPHA:96169
Fatal Familial Insomnia
Urinary retention, Dysphagia, Weight loss OMIM:600072
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... OMIM:301056
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss ORPHA:764
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... ORPHA:2437
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Pancreatitis OMIM:603471
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Zttk Syndrome
Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Patent ductus arteriosus, Horses... OMIM:617140
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... ORPHA:391641
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Alopecia, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ... ORPHA:31824
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Abnormality of the kidney, Cryptorchidism, Low an... ORPHA:261318
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:90051
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, W... ORPHA:767
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Generalized hirsutism, Abnormal localization of kidney, Hydr... ORPHA:2510
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... OMIM:208500
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Prominent eyelashes, Hydronephrosis OMIM:619179
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto... ORPHA:47
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Elevated circulating... OMIM:608836
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... ORPHA:1018
Aredyld Syndrome
Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypoplasia of the ey... ORPHA:1133
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria OMIM:210210
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Dehydration, Ele... OMIM:251100
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis OMIM:613001
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Increased urinary taurine OMIM:615501
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis OMIM:620327
Johanson-Blizzard Syndrome
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Hydronephrosis ORPHA:2315
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... ORPHA:507
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251110
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dy... ORPHA:449427
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Brittle hair, Homocystinuria, Pancreatitis OMIM:236200
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, High... OMIM:614527
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pancreati... OMIM:606721
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Trisomy 1Q
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... OMIM:606812
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, 3-Methylglutaconic aciduria, Recurrent pneumonia, Dehydration OMIM:616271
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss ORPHA:3208
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of ... ORPHA:798
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Highly arched eyebro... ORPHA:261494
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Harlequin Ichthyosis
Dehydration, Erythroderma ORPHA:457
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Cystic Fibrosis
Sinusitis, Bronchiectasis, Nephrolithiasis, Failure to thrive, Decreased body mass index ORPHA:586
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Lymphedema ORPHA:1563
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Fine hair, Hydronephrosis ORPHA:85201
Generalized Pseudohypoaldosteronism Type 1
Pustule, Osteomyelitis, Atopic dermatitis, Dehydration ORPHA:171876
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Chronic ... ORPHA:330015
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Aspiration pneumonia, Abnormal ... ORPHA:216866
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Huntington Disease-Like 2
Weight loss ORPHA:98934
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Wei... ORPHA:361
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Renal hypoplasia, Coarse hair, Nail dystrophy ORPHA:75389
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Adrenocortical Carcinoma
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... ORPHA:1501
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Hydronephrosis, Hypogonadism, Micropenis, Decreased testicular size OMIM:612513
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d... ORPHA:209905
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Chor... ORPHA:96179
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3... ORPHA:20
Lujo Hemorrhagic Fever
Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reac... ORPHA:319213
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Aminoaciduria OMIM:619055
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... ORPHA:3027
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kid... OMIM:601186
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Huntington Disease-Like 1
Restlessness, Abnormal posturing, Weight loss ORPHA:157941
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos... ORPHA:99885
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Thrombocy... ORPHA:781
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Recurrent pneumonia, Hypospadias, Hydronephrosis OMIM:616449
Lassa Fever
Conjunctivitis, Oliguria, Dysphagia ORPHA:99824
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Weight loss ORPHA:86893
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Compulsive behaviors, Otitis media, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hypera... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Compulsive behaviors, Otitis media, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hypera... ORPHA:353277
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Degcags Syndrome
Abnormal eyebrow morphology, Recurrent urinary tract infections, Hypopigmentation of hair, Hyposp... OMIM:619488
Addison Disease
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Sparse axillary hair, Decreased uri... ORPHA:85138
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Sparse eyebrow, Cr... OMIM:604292
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrops fetalis, Methy... ORPHA:79282
Stevens-Johnson Syndrome
Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... ORPHA:36426
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Frontal upsweep of hair, Hydronephrosis OMIM:617798
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis OMIM:611209
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Zellweger Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Cystathioninuria, Methylmalonic aciduria, Stomatitis, Homocystinuria OMIM:277380
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow ORPHA:3242
Brucellosis
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Leukopenia,... ORPHA:1304
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia ORPHA:168816
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Leukocytosis, Hyper... ORPHA:544482
Richards-Rundle Syndrome
Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Babesiosis
Renal insufficiency ORPHA:108
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Brittle hair, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoa... OMIM:124000
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Sparse scalp hair, Fair hair, Stage 5 chronic kidney disease, Renal cyst, F... OMIM:266920
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Hydronephrosis OMIM:302960
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Hydronephrosis, Ureteral triplication OMIM:104350
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fi... ORPHA:261349
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Micropenis, Hydronephrosis, Hypertrichosis OMIM:235255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Anemia, Aspiration pneumonia, Dy... ORPHA:438213
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis OMIM:155310
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Esophagitis ORPHA:541423
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Curly eyelashes, Ectopic kidney, Highly arched eyebrow, Cryptorchidism,... OMIM:122470
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Cryptorchidism, Synophrys, Abnormality of the urinary system, Micropenis, Hydron... ORPHA:96092
Giant Cell Arteritis
Alopecia, Renal insufficiency, Pericarditis, Anorexia, Weight loss, Hematuria, Arthritis ORPHA:397
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Polycyst... ORPHA:2237
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... OMIM:146510
Tarp Syndrome
Neonatal death, Hydronephrosis, Horseshoe kidney OMIM:311900
Cystic Echinococcosis
Eosinophilia, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia, Splenic cyst ORPHA:400
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria ORPHA:324525
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow OMIM:620047
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal dysplasia ORPHA:85321
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Recurrent aspiration pneumoni... ORPHA:98897
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sy... OMIM:616737
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Decreased fertility, ... ORPHA:168558
Tempi Syndrome
Polycythemia, Increased hematocrit, Abnormality of the kidney ORPHA:284227
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Hydrocele testi... OMIM:614080
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... ORPHA:900
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... ORPHA:79128
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Trichiasis, Highly arched eyebrow, Renal hypoplasia, Renal cyst, Vesicouret... OMIM:618460
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Decreased fertility, ... ORPHA:289548
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... ORPHA:36234
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Erysipelas, Hydronephros... OMIM:235510
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Hypercalciuria, Nephrolithiasis, Weight loss ORPHA:652
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormal renal morphology, Micropenis, Hydronephrosis, Hypertrichosis ORPHA:1655
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto... ORPHA:2070
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... ORPHA:33001
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland... ORPHA:2473
Mosaic Trisomy 8
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size ORPHA:96061
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy... ORPHA:398063
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury ORPHA:140896
Pelvis-Shoulder Dysplasia
Hydronephrosis, Facial hirsutism ORPHA:2839
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Dehydration, Aspiration pneumonia, Myoglobinuria, Acute kidney... ORPHA:94093
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ... OMIM:557000
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria OMIM:620089
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Polymyositis
Pericarditis, Elevated circulating creatine kinase concentration, Anorexia, Weight loss, Arthriti... ORPHA:732
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Edema, Orchitis, Pustu... ORPHA:761
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis ORPHA:83317
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Eczema, Abnormality of hair texture, Cryptorchidism, Vesicour... OMIM:610443
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albini... OMIM:242840
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss ORPHA:2126
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis... ORPHA:247353
Eec Syndrome
Slow-growing hair, Hypospadias, Renal hypoplasia/aplasia, Sparse eyebrow, Keratitis, Fine hair, I... ORPHA:1896
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the kidney, Sparse eyebrow, Tubulointerstitial nephritis, Enure... ORPHA:459061
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst, Microp... OMIM:618454
Wilson Disease
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Hepat... ORPHA:905
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Gabriele-De Vries Syndrome
Sparse eyebrow, Cryptorchidism, Frontal upsweep of hair, Ureteropelvic junction obstruction, Hydr... OMIM:617557
Isaacs Syndrome
Weight loss ORPHA:84142
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... OMIM:615559
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Self-injuriou... ORPHA:293987
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th... ORPHA:3287
Secondary Short Bowel Syndrome
Enterocolitis, Dehydration ORPHA:95427
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Dehydration ORPHA:92050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Sparse scalp hair, Duplicated collecting system, Hydroureter, Sparse eyelashes, ... OMIM:129900
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... ORPHA:1340
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Carpenter Syndrome 1
Cryptorchidism, Hydroureter, Hydronephrosis OMIM:201000
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Osteogenesis Imperfecta
Small for gestational age, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Dysphagia, Thrombocyt... ORPHA:666
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Low anterior hairline, Hydronephrosis, Hypertrichosis OMIM:608779
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Hyd... ORPHA:99776
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Hyperlysinemia
Argininuria, Recurrent pneumonia, Cystinuria, Decreased urine alpha-ketoglutarate concentration, ... ORPHA:2203
Matthew-Wood Syndrome
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Cronkhite-Canada Syndrome
Alopecia, Cachexia, Anorexia, Splenomegaly, Anemia, Dystrophic toenail, Patchy alopecia, Dystroph... ORPHA:2930
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Vesicoureteral reflux, Micropenis, P... OMIM:618653
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Xeroderma Pigmentosum
Alopecia, Keratitis, Cryptorchidism, Aminoaciduria, Hypogonadism, Blepharitis, Decreased testicul... ORPHA:910
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Unilateral breast hypoplasia, Renal dysplasia, Hypertrichosis OMIM:300968
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ... ORPHA:549
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, W... ORPHA:98850
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Bone-marrow foam cells, Hypersp... ORPHA:275761
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Supernumerary nipple, Highly arched eyebrow ORPHA:247262
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias OMIM:618659
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Caroli Disease
Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Po... ORPHA:53035
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Hydro... ORPHA:444072
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Glycosuria ORPHA:2089
Argininemia
Diaminoaciduria, Oroticaciduria OMIM:207800
Cystic Fibrosis
Male infertility, Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Dehydration, Chronic sinus... OMIM:219700
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... OMIM:619534
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Cryptorchidis... ORPHA:847
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatitis, Hydronephrosis, Chronic hepatitis OMIM:614921
19Q13.11 Microdeletion Syndrome
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent eyelashe... ORPHA:217346
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria OMIM:251880
Boutonneuse Fever
Skin rash, Renal insufficiency, Maculopapular exanthema ORPHA:83313
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Juvenile Amyotrophic Lateral Sclerosis
Head titubation, Urinary incontinence, Cachexia, Dysphagia ORPHA:300605
Netherton Syndrome
Hypernatremic dehydration, Recurrent skin infections, Allergic rhinitis, Eczema, Angioedema, Chro... OMIM:256500
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Hydrops fetalis, Dehydration, Corne... ORPHA:699
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Fabry Disease
Renal insufficiency, Proteinuria, Lymphedema, Urinary mulberry cells, Lipiduria OMIM:301500
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis ORPHA:250989
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Highly arched eyebrow, Low posterior hairlin... ORPHA:2995
Snakebite Envenomation
Angioedema, Acute kidney injury, Edema ORPHA:449285
White-Kernohan Syndrome
Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Long eyelashes, Horizontal eyebro... OMIM:619426
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypogonadotropic hypogonadism, Acne, Renal salt wasting, Abnormality of the menstrual cycle, Long... ORPHA:90794
Hereditary Late-Onset Parkinson Disease
Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysphagia ORPHA:411602
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Facial edema, Cheilit... ORPHA:293173
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria OMIM:210200
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Recurrent pneumonia, Male urethral meatus stenosi... ORPHA:464738
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Increased c... OMIM:615846
Mulibrey Nanism
Cachexia ORPHA:2576
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High... ORPHA:2322
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior... OMIM:115150
Hermansky-Pudlak Syndrome
Renal insufficiency, Hypopigmentation of hair, Anorexia, Weight loss, Long eyelashes, Neutropenia ORPHA:79430
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis OMIM:301040
Pfapa Syndrome
Arthritis, Infectious encephalitis, Weight loss ORPHA:42642
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Dysphagia, Hyperalaninemia, Anemia ORPHA:298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... OMIM:615751
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Behçet Disease
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Anorexia, P... ORPHA:117
Christianson Syndrome
Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:85278
Cockayne Syndrome Type 3
Renal insufficiency, Dry hair, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal ... ORPHA:90324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis, Hirsutism OMIM:305620
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... OMIM:616580
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Recurrent pneumon... OMIM:251260
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Chronic o... ORPHA:2750
Huntington Disease-Like 2
Weight loss OMIM:606438
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hyp... ORPHA:2494
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria OMIM:609242
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Tarp Syndrome
Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Thick eyebrow ORPHA:2886
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Focal Myositis
Myositis, Weight loss ORPHA:48918
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, E... ORPHA:289176
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Cry... OMIM:258040
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis OMIM:261680
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Meningococcal Meningitis
Skin rash, Renal insufficiency, Infectious encephalitis ORPHA:33475
Focal Dermal Hypoplasia
Alopecia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hydronephrosis ORPHA:2092
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Eczema, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Hydronephrosis, Micro... ORPHA:464306
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Microp... OMIM:617159
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... ORPHA:90291
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Stillbirth, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Synophrys, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Hydrocele... ORPHA:280633
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal... OMIM:242900
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ketonuria, Lacticaciduria, Aspiration pneumonia OMIM:619167
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... ORPHA:824
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease OMIM:618821
Alveolar Echinococcosis
Cholangitis, Eosinophilia, Renal cyst, Weight loss, Abnormal spleen morphology, Abnormal bladder ... ORPHA:284
Classic Hodgkin Lymphoma
Splenomegaly, Skin rash, Anorexia, Weight loss ORPHA:391
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... ORPHA:464311
Raine Syndrome
Neonatal death, Hydroureter, Hydronephrosis, Highly arched eyebrow OMIM:259775
Cousin Syndrome
Low anterior hairline, Hydronephrosis, Facial hirsutism OMIM:260660
Mcdonough Syndrome
Cryptorchidism, Synophrys, Cachexia ORPHA:2471
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Failure to thrive, Anemia, Weight loss ORPHA:1842
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Dry hair, Hypospadias, Eczema, Pneumonia, ... OMIM:619991
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Cryptorchidism, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Hyperactivity, Cachexia, Abnormal hair pattern, Aggressive behavior, Synophr... ORPHA:85293
Isolated Osteopoikilosis
Discoid lupus rash, Addictive alcohol use, Abnormality of the kidney ORPHA:166119
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Melnick-Needles Syndrome
Ureteral stenosis, Coarse hair, Stillbirth, Recurrent otitis media, Frontal hirsutism, Hydronephr... OMIM:309350
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... OMIM:253270
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Sparse anterior scalp hair, Cryptorchidism, Enuresis, Lon... ORPHA:96121
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Panniculit... OMIM:612541
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Abnormal circulating ... ORPHA:1979
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Dubowitz Syndrome
Sparse scalp hair, Hypospadias, Eczema, Cryptorchidism, Low anterior hairline, Fine hair, Hydrone... ORPHA:235
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Low posterior hairline, Hypoplasia of the ovary, ... ORPHA:79328
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss ORPHA:1164
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Fine hair, Polycystic ki... ORPHA:96149
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Occipital Horn Syndrome
Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis OMIM:304150
Craniofacioskeletal Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis OMIM:300712
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Dehydra... ORPHA:99826
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia OMIM:617660
8P23.1 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Obesity, Weight loss, Attention deficit hyperactivity diso... ORPHA:251071
Pyruvate Carboxylase Deficiency
Lacticaciduria, Dehydration ORPHA:3008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
3Mc Syndrome 1
Hydronephrosis, Synophrys, Supernumerary nipple, Highly arched eyebrow OMIM:257920
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology ORPHA:440713
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Proteinuria OMIM:618886
Opitz Gbbb Syndrome
Hypospadias, Cryptorchidism, Widow's peak, Abnormality of the urinary system, Vesicoureteral refl... ORPHA:2745
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Cryptogenic Organizing Pneumonia
Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig... ORPHA:1302
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia, Eosinophilia, Hyperk... ORPHA:199299
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss ORPHA:26790
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Low posterior hairline, Nephrocalcinosis, Micropenis, Hydronep... ORPHA:264450
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Hypocalcem... OMIM:212750
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Fanconi Anemia, Complementation Group F
Pneumonia, Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney OMIM:603467
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... ORPHA:96147
Dend Syndrome
Dehydration ORPHA:79134
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Chime Syndrome
Sparse hair, Abnormality of the kidney, Hydronephrosis, Fine hair ORPHA:3474
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Stillbirth, Facial... OMIM:229850
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Aggressive behavior ORPHA:97229
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... ORPHA:227990
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Avian Influenza
Pneumonia, Hepatitis, Conjunctivitis, Pleural effusion, Acute kidney injury, Infectious encephali... ORPHA:454836
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Weight loss... ORPHA:420741
Trisomy 18
Cryptorchidism, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Gm1 Gangliosidosis
Splenomegaly, Patent ductus arteriosus, Weight loss, Hepatosplenomegaly, Aspiration pneumonia, Dy... ORPHA:354
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Macular edema, Tubulointerstitial nephritis, Optic neu... ORPHA:279914
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... ORPHA:647
Refsum Disease
Renal insufficiency ORPHA:773
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Anorexia, Weight loss ORPHA:65682
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria ORPHA:395
Apert Syndrome
Chronic otitis media, Cryptorchidism, Acne, Hydronephrosis OMIM:101200
Cutis Laxa, Autosomal Recessive, Type Ic
Recurrent pneumonia, Hydronephrosis, Multiple bladder diverticula OMIM:613177
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Absent eyebrow, Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of th... ORPHA:2273
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Hydrone... ORPHA:487796
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Ascites, Enl... OMIM:276700
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agen... OMIM:617666
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst, Generalized edema OMIM:617478
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... ORPHA:227982
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Highly arched eyebrow, Fine hair, Hydrocele testis, Hypoplastic nip... OMIM:280000
Sickle Cell Disease
Hematuria, Renal insufficiency, Priapism OMIM:603903
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Alopecia, Hypoplasia of penis, Cryptorchidism, Long eyelashes, Chro... ORPHA:1507
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss... ORPHA:29207
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis OMIM:300519
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Hypoplastic nipples, Micropenis, Hydronephrosis, Hyp... OMIM:269150
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Coccidioidomycosis
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash... ORPHA:228123
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... ORPHA:573278
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Relapsing Fever
Hematuria, Abnormality of the urinary system, Acute kidney injury ORPHA:91547
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system ORPHA:813
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthriti... OMIM:249100
Pseudo-Torch Syndrome 1
Renal insufficiency OMIM:251290
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Low posterior hairline, Ne... OMIM:136140
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux ORPHA:140952
Hellp Syndrome
Pulmonary edema, Proteinuria, Hemoglobinuria, Pleural effusion, Acute kidney injury, Generalized ... ORPHA:244242
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Pancytopenia, Anorexia, Phimosis, Urinary bladder inflammation, Bronchiectas... ORPHA:99921
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Atopic de... ORPHA:2902
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating alpha-fetoprotein concentrat... ORPHA:370348
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... ORPHA:363958
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Horizontal eyebrow, Alopecia of scalp, Hydronephrosis... OMIM:267750
Waldenström Macroglobulinemia
Periorbital edema, Pleural effusion, Renal insufficiency, Pedal edema ORPHA:33226
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Colitis, Inflammation of the large intestine OMIM:203300
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Weight los... ORPHA:171
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria ORPHA:79644
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Hypercalciuria, Uveitis, Weight loss, Bronch... OMIM:181000
Sandifer Syndrome
Anemia, Abnormal posturing, Esophagitis ORPHA:71272
Familial Colorectal Cancer Type X
Renal neoplasm, Abnormal circulating creatine concentration, Attention deficit hyperactivity diso... ORPHA:440437
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria ORPHA:404454
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Facial edema, Periorbital edema, Xer... ORPHA:449432
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease, Oligohyd... OMIM:267010
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Porphyria Variegata
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele... ORPHA:79473
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Weight loss, Arthritis, Infertility, Erectile dysfunction, Testicu... ORPHA:465508
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis,... ORPHA:37
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptor... ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal h... ORPHA:818
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the e... ORPHA:2308
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Kaposi Sarcoma
Abnormality of the spleen, Skin rash, Weight loss ORPHA:33276
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Cryptorchidism, Hors... ORPHA:3310
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro... OMIM:617729
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Okamoto Syndrome
Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Unilateral renal hy... ORPHA:2729
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Cryptorch... ORPHA:83617
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease OMIM:620366
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Dysphagia OMIM:128100
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Robinow Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Webbed penis, High anterior hairline, H... ORPHA:97360
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Perry Syndrome
Weight loss ORPHA:178509
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple ORPHA:352665
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Mercury Poisoning
Interstitial pneumonitis, Acute kidney injury ORPHA:330021
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... ORPHA:1855
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow ORPHA:884
Flynn-Aird Syndrome
Alopecia, Cachexia ORPHA:2047
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Recurrent aspirat... ORPHA:397715
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Lymphedema, Hematuria, Nephrotic syndrome, Arth... ORPHA:324
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypo... OMIM:135900
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Bilateral cryptorchidism, Recurrent ot... OMIM:616268
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... OMIM:619522
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... OMIM:301074
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Gabriele-De Vries Syndrome
Sparse eyebrow, Cryptorchidism, Hydronephrosis, Frontal upsweep of hair, Ureteropelvic junction o... ORPHA:506358
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Abnormality of the lower urinary tract, Weight loss ORPHA:679
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, U... ORPHA:3261
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Highly arched eyebrow, Sparse ey... OMIM:147920
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Recurrent skin infections, Hydronephrosis, Cryptorchidism OMIM:601776
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Weight loss ORPHA:411703
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Dehydration, Oligohydramnios ORPHA:96191
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Ve... ORPHA:2363
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease ORPHA:469
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Juvenile Dermatomyositis
Calcinosis, Alopecia, Myositis, Pericarditis, Elevated circulating creatine kinase concentration,... ORPHA:93672
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptor... ORPHA:1606
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic k... OMIM:218330
Agel Amyloidosis
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Bleph... ORPHA:85448
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Constrictive pericarditis, Acute colitis ORPHA:67
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal dea... OMIM:265380
Wolman Disease
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells ORPHA:75233
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr... ORPHA:723
Charge Syndrome
Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Horseshoe kidney, Vesicoure... ORPHA:138
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Acute Lung Injury
Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Increased c... ORPHA:178320
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... ORPHA:36238
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Self-injurious behavior, Cachexia ORPHA:371364
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thr... ORPHA:79078
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Hypospadias, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Hirs... OMIM:180849
Oromandibular Dystonia
Bruxism, Dysphagia, Weight loss ORPHA:93958
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis OMIM:619321
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Thymic Carcinoma
Weight loss ORPHA:99868
Anaplastic Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:142
Camurati-Engelmann Disease
Cachexia, Anorexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia ORPHA:1328
Focal Dermal Hypoplasia
Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Patch... OMIM:305600
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron... ORPHA:93271
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Osteosarcoma
Weight loss ORPHA:668
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria OMIM:601552
Digeorge Syndrome
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... OMIM:188400
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia, Esophagitis, Weight loss ORPHA:913
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss ORPHA:86884
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Low anterior hairline, Nephrocalcinosis, Abnor... ORPHA:79500
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Arteriosclerosis, Severe Juvenile
Chronic kidney disease OMIM:208060
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat... ORPHA:2388
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Short Syndrome
Sparse hair, Alopecia, Weight loss ORPHA:3163
Vipoma
Ascites, Dehydration ORPHA:97282
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Long eyelashes, Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... ORPHA:85408
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use ORPHA:31825
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Short nail OMIM:114290
African Trypanosomiasis
Alopecia, Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Keratitis... ORPHA:3385
Kikuchi-Fujimoto Disease
Alopecia, Skin rash, Anorexia, Elevated circulating C-reactive protein concentration, Pustule, My... ORPHA:50918
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... OMIM:603041
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria OMIM:616457
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Recurrent skin infections, Hy... ORPHA:3455
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Hydronephrosis OMIM:236680
Poems Syndrome
Leukonychia, Weight loss, Hypogonadism, Erectile dysfunction, Hypertrichosis ORPHA:2905
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... ORPHA:91347
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease ORPHA:25
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro... OMIM:609049
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hydronephrosis OMIM:606170
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria ORPHA:480864
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Anorexia, Elevated circulating alpha-fetoprotein concent... ORPHA:100085
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Medullary Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:1332
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal p... OMIM:312870
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Weight loss ORPHA:97287
Aspartylglucosaminuria
Chronic otitis media, Arthritis, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Cranioectodermal Dysplasia 2
Renal insufficiency, Cholangitis, Polyhydramnios, Recurrent pneumonia, Hydrops fetalis, Renal cyst OMIM:613610
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:90003
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Otopalatodigital Syndrome, Type Ii
Hypospadias, Cryptorchidism, Widow's peak, Stillbirth, Hydronephrosis OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Eczema, Hydronephrosis OMIM:620330
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria, Acne OMIM:208400
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hydronephrosis, Hypoplastic nipples, Renal dysplasia, Hypertrichosis ORPHA:480880
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Edema, Myocarditis, Glycosuria, Acute kidney injury, Priapism, Pul... ORPHA:466677
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Hypogonadism, Micropenis OMIM:216400
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Renal hypoplasia, Facial hypertrichosis, Hydro... OMIM:261540
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Sparse scalp hair, Acne, Anorexia, Leukocytosis, Increased body... ORPHA:99889
Charge Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, Renal hypoplasia, Horseshoe kidney... OMIM:214800
Rett Syndrome
Stereotypical hand wringing, Cachexia, Bruxism OMIM:312750
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss ORPHA:100080
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Small for gestational age, Weight loss ORPHA:424
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Rheumatoid arthritis ORPHA:399180
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Cryptorchidism, Stage 2 chronic kidney dise... OMIM:620305
Glucagonoma
Skin rash, Hypercalcemia, Anorexia, Acanthocytosis, Weight loss, Normochromic anemia, Stomatitis ORPHA:97280
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss ORPHA:100082
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria, Cryptorchidism OMIM:133540
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Addictive alcohol use ORPHA:90065
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Anorexia, Weight loss ORPHA:100075
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Johanson-Blizzard Syndrome
Sparse scalp hair, Hypospadias, Urethrovaginal fistula, Cryptorchidism, Frontal upsweep of hair, ... OMIM:243800
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt... ORPHA:2152
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Dysphagia, Weight loss OMIM:607459
Mucolipidosis Type Ii
Dry hair, Splenomegaly, White hair, Weight loss, Fine hair, Hepatosplenomegaly, Otitis media ORPHA:576
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... OMIM:194050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis... ORPHA:261537
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... ORPHA:57777
Leptospirosis
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Optic neuritis, Pleural effu... ORPHA:509
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... ORPHA:199
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria OMIM:203700
Gallbladder Neuroendocrine Tumor
Cholecystitis, Anorexia, Weight loss ORPHA:100086
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Highly arched eyebrow, Cryptorch... ORPHA:261552
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Lynch Syndrome
Attention deficit hyperactivity disorder, Weight loss ORPHA:144
Eisenmenger Syndrome
Renal insufficiency, Pedal edema, Peripheral edema, Bacterial endocarditis, Ascites, Generalized ... ORPHA:97214
Viss Syndrome
Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Hydronephrosis, Hirsutism OMIM:619472
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Increased urinary glycerol, Ketonuria ORPHA:247598
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Weight loss ORPHA:747
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Polycythemia Vera
Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Carney-Stratakis Syndrome
Dysphagia, Weight loss ORPHA:97286
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia, Anorexia, Weight loss ORPHA:97283
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Malt Lymphoma
Posterior uveitis, Anemia, Weight loss ORPHA:52417
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Patent ductus arteriosus, Hypoalbuminemia, Anemia ORPHA:79076
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Anorexia, Weight loss ORPHA:1333
Costello Syndrome
Renal insufficiency, Polyhydramnios OMIM:218040
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing ORPHA:268943
Klatskin Tumor
Weight loss ORPHA:99978
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Dysphagia, Weight loss OMIM:164310
Tropical Pancreatitis
Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Dysphagia, Weight loss ORPHA:2020
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, A... ORPHA:221
Ppoma
Hypercalcemia, Anorexia, Weight loss ORPHA:97278
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:2072
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Acute Liver Failure
Acute kidney injury, Skin rash, Hepatitis, Cerebral edema ORPHA:90062
Seckel Syndrome
Sparse scalp hair, Cachexia ORPHA:808
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Weight ... ORPHA:740
Proteus Syndrome
Thymus hyperplasia, Cachexia, Splenomegaly, Long penis, Renal cyst, Generalized hirsutism ORPHA:744
Grfoma
Hypercalcemia, Anorexia, Weight loss ORPHA:97261
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Highly arched eyebrow, Low anterior hairline, Hirsutism OMIM:220111
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Chronic kidney disease, Septic arthritis, Recurrent aspiration pneumonia ORPHA:642
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Otit... ORPHA:64
Marfan Syndrome
Attention deficit hyperactivity disorder, Arthralgia/arthritis, Slender build, Cachexia ORPHA:558
Stickler Syndrome
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build ORPHA:828
Norrie Disease
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... ORPHA:649
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia ORPHA:75565

Histopathology

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

There is no histopathology data for Aprt

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Aprttm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Aprtem1(IMPC)Hmgu Exon Deletion Mice

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