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Gene: Col4a4 MGI:104687

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Gene Summary

Name:
collagen, type IV, alpha 4
Synonyms:
[a]4(IV),  E130010M05Rik

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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
small thymus Col4a4em1(IMPC)H HOM Early adult 0.00
small seminal vesicle Col4a4em1(IMPC)H HOM Early adult 0.00
cataract Col4a4em1(IMPC)H HOM Early adult 9.24×10-24
enlarged urinary bladder Col4a4em1(IMPC)H HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Col4a4 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 Col4a4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780

The table below shows human diseases predicted to be associated to Col4a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... OMIM:614650
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... OMIM:615244
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hematuria, Benign Familial, 2
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... OMIM:620320
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment... OMIM:614455
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia, Hearing impairment OMIM:610896
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Senso... OMIM:617575
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Optic atrophy OMIM:249660
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... OMIM:618347
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia OMIM:606996
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
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
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... OMIM:617731
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Sensorineural hearing impairment, Proteinuria ORPHA:2820
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia, Anemia ORPHA:510
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... OMIM:615993
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment ORPHA:79087
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... OMIM:308940
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Sensorineural hearing impairment... ORPHA:225
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft palate, Hearing impairment OMIM:120433
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Angioma, Hereditary Neurocutaneous
Hematuria, Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome... OMIM:619603
Amyloidosis, Familial Visceral
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Abnormal renal corticom... OMIM:616733
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Glycogen Storage Disease Ib
Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232220
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... ORPHA:340
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive OMIM:304800
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hyperlipidemia, Hematuria, Focal segmental ... OMIM:232240
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur... ORPHA:411536
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia ORPHA:375
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... ORPHA:276621
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
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
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... OMIM:274150
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... OMIM:619428
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrine level, Paroxysmal vertigo, Ele... ORPHA:94080
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad... ORPHA:223
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur... OMIM:239200
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney ORPHA:79327
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... ORPHA:439232
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos... ORPHA:213
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip and palate ORPHA:1473
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Cataract 42
Cataract, Developmental cataract OMIM:115900
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia ORPHA:69077
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... ORPHA:90060
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Cleft palate, Hy... OMIM:154230
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... OMIM:614034
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ... OMIM:251300
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Cednik Syndrome
Proteinuria, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Macrotia, Abnor... ORPHA:66631
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Thickened... OMIM:619487
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells OMIM:256150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix, Tubulointerstitial fibrosis OMIM:232500
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... ORPHA:29072
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... OMIM:620010
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:620235
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Lowe-Kohn-Cohen Syndrome
Nephropathy, Sensorineural hearing impairment, Anorectal anomaly, Anal atresia ORPHA:2408
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 34
Congenital sensorineural hearing impairment, Failure to thrive, Elevated circulating creatinine c... OMIM:617872
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin le... OMIM:612780
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Neutropenia, Hyperammonemia, Iron defi... ORPHA:1667
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... OMIM:146255
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulon... ORPHA:1830
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Hyperuricosuria, Hyperuricem... ORPHA:411543
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Hepatic Veno-Occlusive Disease
Renal insufficiency, Increased body weight, Increased total bilirubin ORPHA:890
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia, Sensorineural hearing impairment ORPHA:3222
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing imp... ORPHA:1018
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating ren... OMIM:263800
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Galactosemia Iii
Sensorineural hearing impairment, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to thrive OMIM:230350
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Granulom... OMIM:619858
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Trichomegaly
Cataract OMIM:190330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... OMIM:263200
Retinitis Pigmentosa 59
Renal insufficiency, Failure to thrive, Sensorineural hearing impairment, Micropenis OMIM:613861
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Generalized aminoaciduria, Renal tubular dysfunction... OMIM:606528
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failu... ORPHA:79312
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrome, Focal segme... OMIM:617303
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Gastroesophageal reflux, ... OMIM:223900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis OMIM:251000
Nathalie Syndrome
Cataract ORPHA:2663
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... ORPHA:2838
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing... OMIM:301050
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocy... OMIM:209950
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Sple... OMIM:276700
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... ORPHA:247691
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocytopenia, Stag... OMIM:242900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... OMIM:619644
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Addic... ORPHA:520
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hearing impairment OMIM:615996
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Optic atrophy, Hematuria... OMIM:243910
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Renal amyloidosis, Pr... OMIM:191900
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, Urachus fistula,... ORPHA:488
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Optic atrophy, Elevated circulating creatine kinase concentra... OMIM:616239
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria OMIM:560000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Sensorineural hearing impairment, Nephrotic syndrome, Proteinuria ORPHA:1192
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Congenital hypoplastic anemia, Sple... ORPHA:77297
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Oroticaciduria,... OMIM:258900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Sensorineural hearin... ORPHA:2377
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Familial Reactive Perforating Collagenosis
Chronic kidney disease, Abnormal pinna morphology ORPHA:79147
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Hyperuricemia, Hprt-Related
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300323
Argininemia
EEG abnormality, Diaminoaciduria, Hyperammonemia ORPHA:90
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, Neutropenia, An... ORPHA:289916
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... ORPHA:324525
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... ORPHA:507
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Nephrotic syndrome... ORPHA:85445
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Hematuria, Lymphopenia ORPHA:549
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys... OMIM:215250
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
Pseudo-Torch Syndrome 3
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... OMIM:618886
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalcinosis, Glycos... OMIM:616026
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... ORPHA:6
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Macrotia, Optic atrophy, I... ORPHA:90321
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney ORPHA:369
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Avian Influenza
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... ORPHA:454836
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Leukopenia, Abnormal... ORPHA:93552
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Hematuria ORPHA:36412
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Hype... ORPHA:79101
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Congenital sensorineura... OMIM:619147
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... ORPHA:107
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Wei... ORPHA:160
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency OMIM:105120
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hematuria, Abnormality of the bladder ORPHA:1839
Alstrom Syndrome
Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,... OMIM:203800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... ORPHA:713
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Galactosemia Iv
Cataract OMIM:618881
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia ORPHA:27
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid... ORPHA:57
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Gastrointestinal hemorrhage, Hyperuricemia ORPHA:35909
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair... ORPHA:1307
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Orthostatic Hypotension 1
Orthostatic hypotension, Increased blood urea nitrogen, High palate, Hypomagnesemia, Nocturia OMIM:223360
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Hypercalciuria, Generaliz... OMIM:227810
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly placed anus, Low-... OMIM:617661
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Deafness, Autosomal Dominant 23
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Hearing impairment ORPHA:86818
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Babesiosis
Hemolytic anemia, Renal insufficiency, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Acute leukemia, Unilateral renal agenesis, Attention deficit hyperactivity d... ORPHA:281090
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Gastrointestinal hemorrhage, Bilateral sensorineural hearing impairment, Melena ORPHA:853
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Free Sialic Acid Storage Disease
Splenomegaly, Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... OMIM:615559
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Os... ORPHA:90291
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria, Le... ORPHA:77259
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Elevated circulating creatin... OMIM:608836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... OMIM:251880
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Lead Poisoning
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Skin rash ORPHA:330015
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... OMIM:603903
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochrom... ORPHA:514
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Cleft pal... OMIM:161200
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Grade... OMIM:619377
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... OMIM:619055
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, EEG with generalized epileptiform discharges, ... ORPHA:35878
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hearing impairment, Malabsorption, Hyperlipidem... ORPHA:324
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, 3-Methylglutaconic aciduria, Hypoalbuminemia OMIM:618329
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Sensorineural hearing impairment, Proteinuria, Renal artery stenosis OMIM:209010
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Insulin-Resistance Syndrome Type B
Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circulating fatty-acid c... ORPHA:2298
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Bilateral sensorineural hearing impairment, Distal... OMIM:602722
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic aciduria, Hyp... OMIM:614739
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... OMIM:608104
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Sensorineural hearing impairment, Ur... OMIM:300661
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Giant Cell Arteritis
Renal insufficiency, Vertigo, Optic atrophy, Weight loss, Hematuria, Gastrointestinal infarctions... ORPHA:397
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... ORPHA:436271
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Weight loss, Nephrotic syndrome, ... ORPHA:330001
Trichohepatoenteric Syndrome 1
Hypospadias, Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased s... OMIM:222470
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Glanzmann Thrombasthenia
Macroscopic hematuria ORPHA:849
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... OMIM:617156
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... OMIM:220110
Donnai-Barrow Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Proteinuria, Intestinal malrotation ORPHA:2143
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tu... ORPHA:358
Klippel-Trénaunay Syndrome
Hematuria, Microcytic anemia ORPHA:90308
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hemophilia B
Hematuria ORPHA:98879
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Melas
Proteinuria, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Sensorineural hearing i... ORPHA:550
Gapo Syndrome
Facial palsy, High, narrow palate, Optic atrophy, Protruding ear, EEG abnormality, Tubulointersti... OMIM:230740
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:603585
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Rhyns Syndrome
Renal insufficiency, Sensorineural hearing impairment, Chronic kidney disease, Nephronophthisis, ... OMIM:602152
Postinfectious Vasculitis
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... ORPHA:48435
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney ORPHA:3121
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hyperammonemia ORPHA:664
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... ORPHA:90068
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment, Hydroureter, Hydronephrosis OMIM:264140
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Cataract, Hepatomegaly ORPHA:79238
Lujo Hemorrhagic Fever
Lymphopenia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:319213
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ... OMIM:256550
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, Hematuria, Nephrot... ORPHA:2035
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Sensorineural hearing impairment, Nephrolithiasis OMIM:267300
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Systemic Capillary Leak Syndrome
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Abnormal renal tubule morphology ORPHA:188
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve conduction velocity... ORPHA:1933
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H... OMIM:618161
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Neutropenia, Weight l... ORPHA:537
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Amme Complex
Hematuria, Sensorineural hearing impairment OMIM:300194
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Macroti... OMIM:118450
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Chronic kidn... ORPHA:1855
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronep... OMIM:235510
Galloway-Mowat Syndrome
Proteinuria, Hiatus hernia, Nephrotic syndrome, EEG abnormality, Hypoplasia of the ear cartilage,... ORPHA:2065
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis OMIM:217090
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Self-injurious behavior,... ORPHA:324636
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia ORPHA:536
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Low-set ears, Tubulointerstitial fibrosis OMIM:607944
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227990
Congenital Factor Ii Deficiency
Microscopic hematuria, Anemia ORPHA:325
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Thickened helices, Unilateral renal agenesis, Ectopic kidney... OMIM:617641
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Large earlobe, Macrotia ORPHA:2715
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r... ORPHA:556
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia, Heari... OMIM:614922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Failure to thrive OMIM:102700
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Sensorineural hearing impairment, Renal hypoplasia, Low... ORPHA:85321
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, Gastroesophag... ORPHA:534
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinase concentra... ORPHA:99826
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Gastrointestinal infarctions, Renal amyloidosis, ... ORPHA:314652
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... ORPHA:227982
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hematuria ORPHA:761
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cleft palate, Microtia, Multiple bladder diverticula, Recurrent otitis media, Abnorm... ORPHA:2728
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Weight loss, Polydipsia, Hydronephrosis, Anemia ORPHA:35687
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Rena... ORPHA:95409
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kidney diseas... OMIM:268315
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre... ORPHA:391641
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Conducti... OMIM:618885
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Thrombocyto... ORPHA:731
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, EEG abnormality, 3-... OMIM:246450
Isolated Atp Synthase Deficiency
Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutac... ORPHA:254913
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Nephronophthisis 19
Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephronophthisis, Hype... OMIM:616217
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Factor V Deficiency
Hematuria ORPHA:326
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Vertigo, Sensorineural hea... ORPHA:728
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Hiatus hernia, Urinary hesitancy, Sensorineural hearing impairment, Urinary... OMIM:609727
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Sensorineural hearing impairment, Stage 5 chronic kidne... OMIM:613159
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Argininosuccinic Aciduria
Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria, Normochromic anemia ORPHA:95513
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... ORPHA:31824
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Acute kidney injury, Thrombocytopenia ORPHA:449285
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Meningococcal Meningitis
Papilledema, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hearing ... ORPHA:33475
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Mucoepithelial Dysplasia, Hereditary
Hematuria, Melena, Hearing impairment, Furrowed tongue OMIM:158310
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated... OMIM:251900
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment, Increased circulating renin level, Renal salt wasting OMIM:619406
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Alg12-Cdg
Hyponatremia, Hypospadias, Hypoalbuminemia, B lymphocytopenia, Hypocholesterolemia, Micropenis, F... ORPHA:79324
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... OMIM:194380
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... ORPHA:445038
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Impulsivity, Ectopic kidney, Abnormali... ORPHA:3027
Ohdo Syndrome
Stenosis of the external auditory canal, Microtia, Proteinuria, Hearing impairment OMIM:249620
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Acute Intermittent Porphyria
Hyponatremia, Dark urine, Renal insufficiency, Restlessness, Urinary incontinence, Dysuria, Porph... ORPHA:79276
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Posteriorly rotated ears, Non-acidotic proximal tubulopathy,... OMIM:222448
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... OMIM:612469
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia OMIM:301500
Chronic Mucocutaneous Candidiasis
Hematuria, Recurrent urinary tract infections ORPHA:1334
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:90051
Fanconi Anemia, Complementation Group O
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis, Anal atresia OMIM:613390
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... OMIM:255125
Q Fever
Anorexia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hematuria, Weight loss, Granuloma, ... ORPHA:781
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Low-set ears OMIM:191830
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Moderate Hemophilia A
Hematuria ORPHA:169805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618120
Bernard-Soulier Syndrome
Partially duplicated kidney, Giant platelets, Macrothrombocytopenia, Macroscopic hematuria ORPHA:274
Acquired Von Willebrand Syndrome
Hematuria, Normocytic anemia, Refractory anemia, Hypochromic anemia ORPHA:99147
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... OMIM:201475
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematuria, Incr... ORPHA:60025
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Chronic kidney disease, Obesity, Nephronophthisis OMIM:615630
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Dysphagia, Anemia, Decreased serum zinc, Hypoalbuminemia... ORPHA:89842
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Obesity ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... OMIM:619743
Severe Hemophilia A
Anemia, Macroscopic hematuria ORPHA:169802
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Elevate... OMIM:616878
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Branchiootorenal Syndrome 1
High palate, Conductive hearing impairment, Vesicoureteral reflux, Bifid uvula, Facial palsy, Dil... OMIM:113650
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... ORPHA:101330
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... ORPHA:261265
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Hypocalcemia, Polyc... ORPHA:2237
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal urinary color, Abnormal gastric mucosa morphology ORPHA:234
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Boutonneuse Fever
Leukopenia, Renal insufficiency, Thrombocytopenia ORPHA:83313
Humeroradial Synostosis
Renal insufficiency, Small earlobe, Microtia OMIM:236400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Sensorineural hearing impairment, Hyp... OMIM:239000
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Rabson-Mendenhall Syndrome
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation, Renal insufficiency, Weight loss ORPHA:764
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Gaucher Disease Type 3
Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Thrombocytopenia ORPHA:77261
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Otitis med... OMIM:122470
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Posteriorly rotated ears, Hemolyt... OMIM:611209
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... ORPHA:244242
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Cupped ear, Anteriorly placed anus, Low-set ears, Vesicoureteral reflux, Mic... OMIM:617159
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Pyloric stenosis, Chron... ORPHA:261494
Shigellosis
Hyponatremia, Failure to thrive in infancy, Abscess, Anorexia, Hemolytic-uremic syndrome, Leukocy... ORPHA:810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Cholangitis OMIM:124000
Lysinuric Protein Intolerance
Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia,... OMIM:222700
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Renal insufficiency, Cleft palate ORPHA:2165
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Obesity OMIM:618821
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Abnormality of the kidney, Hyperammonemia, 3-Methylglutaconic aciduria, Low-set ears ORPHA:1194
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight los... ORPHA:171
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Esophageal varix, Nephrolithiasis, Hematuria ORPHA:774
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl... ORPHA:96179
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Purine Nucleoside Phosphorylase Deficiency
Unusual gastrointestinal infection, Decreased urinary urate, Hypouricemia, Sensorineural hearing ... ORPHA:760
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Whipple Disease
Hyponatremia, Cachexia, Anorexia, Splenomegaly, Polydipsia, Anemia ORPHA:3452
Rift Valley Fever
Hematuria, Thrombocytopenia, Anemia, Anorexia ORPHA:319251
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Protruding tongue, Obesity, Macroglossia, Vesicouretera... ORPHA:96147
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Mercury Poisoning
Hypokalemia, Acute kidney injury, Anorexia ORPHA:330021
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Low-set ears, Congenital... OMIM:300048
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Chordee, Low-set ears, Microp... OMIM:300519
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Agel Amyloidosis
Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Orthostati... ORPHA:85448
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Beta-Ketothiolase Deficiency
Ketonuria, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperu... ORPHA:134
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Optic atrophy, Hematuria, Mu... ORPHA:538
Pearson Syndrome
Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Hypom... ORPHA:699
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... ORPHA:79282
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Hepatocellular... OMIM:603471
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Pseudo-Torch Syndrome 1
Splenomegaly, Renal insufficiency, Failure to thrive, Thrombocytopenia OMIM:251290
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... OMIM:270400
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur... OMIM:611881
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... OMIM:208500
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Abnormal helix morphology ORPHA:313
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Yellow Fever
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Le... ORPHA:99829
Congenital Factor X Deficiency
Hematuria ORPHA:328
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c OMIM:619127
Pediatric-Onset Graves Disease
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Fa... ORPHA:525731
Cardiogenic Shock
Vertigo, Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Leukocytosis, Hyperkalemia, Oliguria, Hypo... ORPHA:544482
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Erythema nodosum, Nephrolithiasis, Hypercalciuria, ... ORPHA:797
Refsum Disease
Renal insufficiency, Sensorineural hearing impairment ORPHA:773
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... ORPHA:79240
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:52368
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Trisomy 10P
Small for gestational age, Abnormality of the kidney, Abnormal auditory evoked potentials, Poster... ORPHA:171929
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca ORPHA:79078
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Distal Deletion 10Q
Failure to thrive, Abnormal morphology of the vestibule of the inner ear, Congenital sensorineura... ORPHA:96148
Gaucher Disease
Pancytopenia, Proteinuria, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:355
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Weight loss ORPHA:79242
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Polyuria, Dysphagia, Hypercholesterolemia, Failu... OMIM:606721
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp... OMIM:620358
Zttk Syndrome
Failure to thrive, Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem... OMIM:210210
Scrub Typhus
Splenomegaly, Renal insufficiency ORPHA:83317
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Violent behavior, Hypospadias, Impulsivity, Aggressive behav... OMIM:619475
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Acanthocytosis, Decr... ORPHA:14
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Joubert Syndrome 3
Low-set ears, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Anemia, Abnormal renal tubule morphology ORPHA:440713
Omenn Syndrome
Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Nephrotic syndrome, Abnormal lymphoc... ORPHA:39041
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Cleft palate, Neph... ORPHA:220497
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Self-injuriou... ORPHA:293987
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Abnormality of the ki... ORPHA:1764
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... ORPHA:209905
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Anor... ORPHA:99827
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Nephropathy, Renal insufficiency, Aganglionic megacolon ORPHA:2318
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Optic atrophy, Renal hypoplasi... OMIM:619321
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia ORPHA:293173
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Dysphagia OMIM:300322
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Joubert Syndrome 2
Renal insufficiency, Optic disc coloboma, Renal cyst, High palate, Nephronophthisis, Low-set ears... OMIM:608091
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Pancytopenia, Small for gestational age, Hypoalbuminemia, Hyp... OMIM:613658
Hyperlysinemia
Failure to thrive, EEG with spike-wave complexes, Argininuria, Hyperammonemia, Cystinuria, Dyspha... ORPHA:2203
Stevens-Johnson Syndrome
Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... ORPHA:36426
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Citrullinemia, Classic
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla... OMIM:215700
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Urinary incontinence... ORPHA:101085
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Nephrocalcinosis, Cataract OMIM:146200
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Joubert Syndrome 6
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Vertigo, Multifocal epileptiform... ORPHA:33226
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Obesity OMIM:619471
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... ORPHA:99027
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Overweight, Vertigo, Obesity, Nephrocalcinosis, Hypernatriuri... ORPHA:90041
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Failure to thrive, Renal agenesis, Intestinal malrotation, Renal hy... ORPHA:2538
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Lop... ORPHA:140952
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... OMIM:619534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Failu... OMIM:251110
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... OMIM:311250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Anemia, Iron... ORPHA:79408
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... OMIM:251100
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Renal insufficiency, Hypospadias, Overfolded helix, Renal cort... ORPHA:397715
Ogden Syndrome
Global glomerulosclerosis, Polycythemia, Thrombocytopenia, Dysphagia, Iron deficiency anemia, Pol... OMIM:300855
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum... OMIM:226730
Familial Mediterranean Fever
Intestinal obstruction, Proteinuria, Malabsorption, Nephrocalcinosis, Nephrotic syndrome, Gastroi... ORPHA:342
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Proteinuria, Hypertriglyceridemia ORPHA:79086
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal va... OMIM:216360
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins... ORPHA:191
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Hyperammonemia, Renal tubular acidosis, Dysphagia, Failure to thrive OMIM:616457
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Gastric varix, Hepatocellular carcinoma OMIM:613490
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia, Po... OMIM:208540
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ketonuria, Hyperammonemia OMIM:615453
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Biotinidase Deficiency
Sensorineural hearing impairment, Organic aciduria, Optic atrophy, Hyperammonemia OMIM:253260
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Neoplasm of the liver, Lo... ORPHA:1454
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Renal insufficiency, Autoimmune hemolytic anemia, Glomerulonephritis, Eosinophil... ORPHA:3261
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Neoplasm ... ORPHA:512
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3-Methylglutaric acid... ORPHA:20
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula, Anal stenosis, U... ORPHA:322
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Small for gestational age, Abnormal auditory evoked potentials,... OMIM:133540
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Tuberous Sclerosis Complex
Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... ORPHA:805
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Chronic Graft Versus Host Disease
Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Weight loss, Hematuria,... ORPHA:99921
Townes-Brocks Syndrome 1
Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Renal ... OMIM:107480
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... OMIM:229600
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality ORPHA:206448
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia, Anemia ORPHA:79396
Neurooculorenal Syndrome
Hypoplasia of the bladder, Mixed hearing impairment, Intestinal malrotation, Unilateral renal age... OMIM:620305
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H... OMIM:253270
Argininosuccinic Aciduria
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduri... OMIM:207900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... ORPHA:90324
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Cleft palate... ORPHA:2750
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, High palate, Abnormal auditory evoked potentials OMIM:617523
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Joubert Syndrome 5
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... OMIM:610188
Hermansky-Pudlak Syndrome 1
Hematochezia, Renal insufficiency, Colitis, Inflammation of the large intestine OMIM:203300
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Nephropathy, Cataract ORPHA:2238
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Biotinidase Deficiency
Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Organic acidur... ORPHA:79241
Arthrogryposis, Distal, Type 2A
Small for gestational age, Abnormal auditory evoked potentials, High palate, Failure to thrive, H... OMIM:193700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Vesicoureteral re... OMIM:615895
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia, Cachexia ORPHA:79076
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:216400
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Orofaciodigital Syndrome I
Proteinuria, Hamartoma of tongue, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Po... OMIM:311200
Hermansky-Pudlak Syndrome
Renal insufficiency, Neutropenia, Anorexia, Weight loss ORPHA:79430
Caroli Disease
Liver abscess, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, ... ORPHA:53035
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Anemia OMIM:208060
Serotonin Syndrome
Restlessness, Acute kidney injury, Agitation ORPHA:43116
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Au-Kline Syndrome
Failure to thrive, Sensorineural hearing impairment, Chronic kidney disease, Dilatation of the re... OMIM:616580
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Dysphagia ORPHA:25
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Fanconi Anemia
High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Recurrent urinary... ORPHA:84
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Posteriorly rotated ears, Unilateral renal agenesis, Underdeveloped antitrag... OMIM:181270
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease, Hepatosp... OMIM:267010
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Failure to thrive in... ORPHA:2162
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Aymé-Gripp Syndrome
Proteinuria, Posteriorly rotated ears, Sensorineural hearing impairment, Cleft palate, EEG abnorm... ORPHA:1272
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... ORPHA:2969
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cranioectodermal Dysplasia 4
Stage 5 chronic kidney disease, Protruding ear OMIM:614378
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis OMIM:610125
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hypo... OMIM:619488
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Rectal prolapse, Abnorma... ORPHA:904
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Stage 5 chronic kidney disease, Lobulated tongue, Low-set ears, Bifid uvula ORPHA:2752
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Micropenis, Pe... OMIM:194050
Addison Disease
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Decreased urinary potassium, Renal salt was... ORPHA:85138
Argininemia
Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia OMIM:207800
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Ad... ORPHA:36238
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Brucellosis
Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive pro... ORPHA:1304
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Stage 5 chronic kidney disease OMIM:608612
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney ORPHA:166119
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Multicystic kidney d... ORPHA:199
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy OMIM:616881
Kawasaki Disease
Leukocytosis, Proteinuria, Sterile pyuria ORPHA:2331
Pmm2-Cdg
Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Hypoalbuminemia, Multiple ren... ORPHA:79318
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use ORPHA:31825
Behçet Disease
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Malabsorption, Vertigo, Weight ... ORPHA:117
Acute Lung Injury
Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea... ORPHA:178320
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Posteriorly rotated ears, Stage 5 chronic kidney disease... OMIM:266920
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ketonuria, Increased circulating cre... ORPHA:466677
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Leptospirosis
Anorexia, Cellular urinary casts, Hyperproteinemia, Acute kidney injury, Thrombocytopenia ORPHA:509
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Hiatus hernia, Gastroesophageal reflux, Volvulus OMIM:616682
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Cranioectodermal Dysplasia 2
Renal insufficiency, Cleft palate, Renal cyst, High palate, Hyperbilirubinemia, Low-set ears, Sim... OMIM:613610
Caroli Syndrome
Liver abscess, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hypersplenism, Leukocyto... ORPHA:480520
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Igg4-Related Submandibular Gland Disease
Eosinophilia, Renal insufficiency, Abnormality of the kidney ORPHA:449432
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cl... ORPHA:401973
Coccidioidomycosis
Renal insufficiency, Abscess, Abnormality of the kidney, Eosinophilia, Abnormality of the spleen,... ORPHA:228123
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Thrombocytopenia, Splenomegaly, ... OMIM:188400
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Eisenmenger Syndrome
Brain abscess, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoch... ORPHA:97214
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Addictive alcohol use ORPHA:90065
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Urachal cyst, Neutrophilia, Macrocytic anem... OMIM:608203
Costello Syndrome
Renal insufficiency, Posteriorly rotated ears, Pyloric stenosis, Macroglossia, Vestibular schwann... OMIM:218040
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Floating-Harbor Syndrome
Restlessness, Hypospadias, Renal agenesis, Small for gestational age, Aggressive behavior, Impuls... ORPHA:2044
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... ORPHA:57777
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, High palate ORPHA:79330
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia ORPHA:75565
Acute Liver Failure
Thrombocytopenia, Acute kidney injury, Agitation, Hyperammonemia ORPHA:90062
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Abscess, Impulsivity, Chronic kidney disease, Tooth abscess, Dysphagi... ORPHA:642
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
African Trypanosomiasis
Renal insufficiency, Urinary incontinence, Aggressive behavior, Splenomegaly, Hepatosplenomegaly,... ORPHA:3385
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Gastroesophageal reflux, Otitis medi... ORPHA:64
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Nephropathy, Anemia ORPHA:90340
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180

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 Col4a4

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 Col4a4.

No publications found that use IMPC mice or data for Col4a4.

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MGI Allele Allele Type Produced
Col4a4em1(IMPC)H Exon Deletion Mice
Col4a4tm294489(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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