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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
cataract Col4a4em1(IMPC)H HOM Early adult 2.69×10-25

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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
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Hear... OMIM:203780

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Cataract 44
Developmental cataract OMIM:616509
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Small for gestational age, Gastroesophageal reflux, Congenital nephrotic syndrom... OMIM:256300
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Trichomegaly
Cataract OMIM:190330
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria, Sensorineur... OMIM:620320
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... OMIM:614455
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Cataract 42
Cataract, Developmental cataract OMIM:115900
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia, Hearing impairment OMIM:610896
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... OMIM:162000
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... OMIM:608709
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:2613
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Anemia OMIM:606996
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Cataract 7
Developmental cataract OMIM:115660
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased body weight, Proteinuria, Motor st... OMIM:618347
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Nephronophthisis 3
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... OMIM:604387
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical mi... OMIM:613824
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ... OMIM:613845
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ... OMIM:602522
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar... OMIM:617731
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... OMIM:603860
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Sensorineural hearing impairment ORPHA:2820
Type 1 Diabetes Mellitus
Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyuria OMIM:222100
Lesch-Nyhan Syndrome
Hematuria, Anemia, Renal insufficiency, Hyperuricemia ORPHA:510
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Impaired lympho... OMIM:617006
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Nephronophthisis 1
Nephronophthisis, Polydipsia, Tubular basement membrane disintegration, Stage 5 chronic kidney di... OMIM:256100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, ... OMIM:618314
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria, Hearing impairment ORPHA:79087
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, He... OMIM:308940
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Bardet-Biedl Syndrome 16
Renal agenesis, Hearing impairment, Recurrent otitis media, Obesity, Stage 5 chronic kidney disea... OMIM:615993
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul... ORPHA:18
Angioma, Hereditary Neurocutaneous
Hematuria, Gastrointestinal hemorrhage, Horner syndrome OMIM:106070
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Hearing impairment, Cleft palate OMIM:120433
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Cataract 47
Cataract, Microcornea OMIM:612018
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Failure to thrive, Hearing impairment, Enterocolitis, Nephrot... OMIM:301108
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Low-set ears, Gastroesophageal reflux, Stage 5 chronic kidney... OMIM:619603
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Renal dysplasia, Elevated circulating creatinine concentration, Abnormal rena... OMIM:616733
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Hear... OMIM:203780
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Nocturia, Hyponatremia, Weight loss, Anorexia ORPHA:178029
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
X-Linked Retinoschisis
Cataract ORPHA:792
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Polyuria, Hypernatremia OMIM:304800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Ren... OMIM:232240
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... OMIM:245900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia ORPHA:375
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat... OMIM:607426
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Glomerulopathy, Hypercalcemia ORPHA:2668
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Galloway-Mowat Syndrome 3
Low-set ears, Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Hi... OMIM:617729
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Membr... ORPHA:251004
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:276621
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Proximal Myotonic Myopathy
Cataract ORPHA:606
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Weight loss,... ORPHA:90060
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Nephronophthisis 11
Nephronophthisis, Polydipsia, Tubular basement membrane disintegration, Stage 5 chronic kidney di... OMIM:613550
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with... OMIM:619428
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors... OMIM:120330
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Tubulointerstitial fibrosis, Failure to thriv... OMIM:232500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:94080
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Failure to thr... ORPHA:223
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Optic atrophy, Bilateral cleft palate, Sensorineural hearing impairment ORPHA:1473
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind... OMIM:232800
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Renal tubular dys... ORPHA:213
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... ORPHA:49041
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Hy... OMIM:239200
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Decreased circulating renin... ORPHA:320
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T... ORPHA:673
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... OMIM:620235
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate... OMIM:620010
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Galactosemia Ii
Cataract OMIM:230200
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Bone-marrow foam cells, Renal insufficiency OMIM:256150
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Prot... ORPHA:66631
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... ORPHA:261222
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Low-set ears, Optic atrophy, Hypoalbuminemia, Renal insuffici... OMIM:251300
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Galactosemia Iv
Cataract OMIM:618881
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... ORPHA:29072
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Coombs-positive ... OMIM:614034
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria OMIM:613677
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ... ORPHA:91500
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tra... OMIM:619487
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Dysphagi... OMIM:219800
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anorectal anomaly, Anal atresia, Sensorineural hearing impairment ORPHA:2408
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... OMIM:614748
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Bardet-Biedl Syndrome 17
Polydipsia, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 34
Congenital sensorineural hearing impairment, Elevated circulating creatinine concentration, Incre... OMIM:617872
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop... ORPHA:1830
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency, Increased total bilirubin ORPHA:890
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati... OMIM:619386
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricemia, Sensorineural hearing impairment, Hyperu... ORPHA:411543
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav... OMIM:612780
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Failure to thrive, Stage 5 chronic ... ORPHA:1018
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia, Sensorineural hearing impairment ORPHA:3222
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Sensorineural hearing impairment, Hypergalactosemia OMIM:230350
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu... OMIM:263200
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatre... ORPHA:247353
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R... OMIM:301110
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Polydipsia, Nephrolithiasis, Polyuria, Hypercalcemia OMIM:617994
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Proteinuria, Me... OMIM:619858
Galactosemia I
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Hypomagnesemia, Failure to thrive, ... OMIM:263800
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy, Failure to thrive OMIM:602579
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Elevated circulating creatinine concentration, Glomerular sclerosis, Inc... OMIM:223900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Thrombocytopenia,... ORPHA:79312
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Failure to thrive, Sensorineural hearing impairment OMIM:613861
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Congenital sensorineural hearing impairment, Renal ... OMIM:606528
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... ORPHA:247585
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Leukopenia, Splenomegaly, Protein... OMIM:617303
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Skin rash, Hematuria, Increased inflammatory response, Myositis, Glomerulopa... ORPHA:183
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocy... OMIM:209950
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis OMIM:614582
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,... ORPHA:2838
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Renal insufficiency, Proteinuria, Increased circulating NT-... ORPHA:85443
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtaglomerular cell ... OMIM:601678
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Elevated circulating creatinine concentration, Proteinuria, Glome... ORPHA:247691
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... OMIM:242900
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Polydipsia, Increased serum prostaglandin E2, Renal juxtaglom... OMIM:241200
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Elevat... OMIM:619644
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Arima Syndrome
Optic atrophy, Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria,... OMIM:243910
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hearing impairment, Obesity, Renal insufficiency, Hydronephrosis OMIM:615996
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Pancreatitis, Methylmalonic aciduria OMIM:251000
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Cachexia, Weight loss... ORPHA:77297
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... ORPHA:94059
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Failure to thrive, Ulcerative colitis, Sta... ORPHA:79259
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Failure to thrive OMIM:560000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica... OMIM:617093
Urachal Cyst
Leukocytosis, Abscess, Hematuria, Urachus fistula, Elevated circulating C-reactive protein concen... ORPHA:488
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Muckle-Wells Syndrome
Renal amyloidosis, Hearing impairment, Progressive sensorineural hearing impairment, Renal insuff... OMIM:191900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Sensorineural hearing impairment ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Optic atrophy, Hearing impairment, Elevated circulating creat... OMIM:616239
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Glycosuria, Failure to thrive, Renal ... OMIM:613404
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Polycystic kidney dysplasia OMIM:608776
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Acute Promyelocytic Leukemia
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Addictive alcohol use, Weight loss, ... ORPHA:520
Argininemia
Hyperammonemia, Diaminoaciduria, EEG abnormality ORPHA:90
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Sensorineural hearing impairment... ORPHA:2377
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Oroticaciduria, Anisocytosis, Hematu... OMIM:258900
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Vesicour... ORPHA:1475
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Failure to thrive, Renal tubular acidosis, 3-Methylglutaconic aciduria, E... ORPHA:324525
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Thrombocytopenia, Neutropenia, An... ORPHA:289916
Legionnaires Disease
Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia, Anorexia ORPHA:549
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyper... ORPHA:411629
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... ORPHA:507
Nathalie Syndrome
Cataract OMIM:255990
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Cryoglobulinemic Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia, Hyperkalemia OMIM:620366
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Small for ges... OMIM:215250
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... ORPHA:368
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hyperammonemia, Organic aciduria, Abnormal circulating leucine conc... ORPHA:6
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Nephroblastoma
Hematuria, Weight loss, Nephroblastoma ORPHA:654
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia ORPHA:147
Pseudo-Torch Syndrome 3
Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Proteinuria, Con... OMIM:618886
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Pollakisuria ORPHA:95626
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Weight loss, Anemia ORPHA:100024
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Lymphopenia, Leukopenia, Elevated circulating creatine kina... ORPHA:454836
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Proteinuria, Abnormality of the kidney, Hepatocellular carcinoma ORPHA:369
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Renal insuffici... ORPHA:79101
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph... OMIM:616026
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Congenital sensorineural hearing impairment, Renal ... OMIM:619147
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:2123
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Sensorineural hearing impairment, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... ORPHA:47159
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Failure to thrive, Renal insufficiency, Abnormality of periphe... ORPHA:90321
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia OMIM:610965
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic k... OMIM:191800
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Castleman Disease
Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Elevated circulating C-reactiv... ORPHA:160
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:540
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Bor Syndrome
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Stenosi... ORPHA:107
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... ORPHA:859
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... ORPHA:93111
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Hematuria, Tracheoesophageal fistula, Anorectal anomaly, Abnormality of the bladder ORPHA:1839
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Glanzmann Thrombasthenia
Macroscopic hematuria ORPHA:849
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Immune Thrombocytopenia
Hematuria, Thrombocytopenia ORPHA:3002
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Vertigo, Elevated circulating creatinine concentration, Orthosta... ORPHA:230
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elevated circul... OMIM:223360
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... ORPHA:3124
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... ORPHA:57
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... ORPHA:2070
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Conductive hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:1307
Babesiosis
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Anorexia, Hemolytic anemia ORPHA:108
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Vesicoureteral reflux, Conductive hearing impairment OMIM:605192
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure... OMIM:227810
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Volvulus, Recurrent urinary tract i... ORPHA:2970
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Unilateral renal agenesis, Acute leukemia, Renal insuff... ORPHA:281090
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Anteriorly pla... OMIM:617661
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Gastrointestinal hemorrhage, Bilateral sensorineural hearing impairment, Melena ORPHA:853
Osteootohepatoenteric Syndrome
Hearing impairment, Failure to thrive, Villous atrophy, Increased intestinal transit time, Increa... OMIM:619377
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Decreased HDL cholesterol concentration, In... ORPHA:77259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Narrow palate, Increased total bilirubin, Elevated circulating creatinine concentra... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Low-set ears, Failure to thrive, Sensorineural hearing impairment, Hyperalaninemia OMIM:617950
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Proteinuria, Renal... OMIM:212065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Hearing impairment, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:86818
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome, Failure to thrive in infancy, Splenomegaly ORPHA:834
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Lead Poisoning
Chronic kidney disease, Skin rash, Tubulointerstitial nephritis, Renal tubular dysfunction ORPHA:330015
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Renal insufficiency, Splenomegaly, Leuk... OMIM:603903
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Chronic lymphatic leukem... ORPHA:91139
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, EEG with generalized epileptiform discharges, ... ORPHA:35878
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Polydipsia ORPHA:251274
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss,... ORPHA:514
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Sensorineural hear... OMIM:614739
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo... ORPHA:90291
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra... ORPHA:2298
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Nail-Patella Syndrome
Renal insufficiency, Sensorineural hearing impairment, Hematuria, Proteinuria, Glomerulonephritis... OMIM:161200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria ORPHA:71273
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Abnormal circulating creatine kinase concentration, Sensorineural hearin... OMIM:617519
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Smal... OMIM:222470
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Addictive alcohol use, D... ORPHA:31826
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Thrombocytopen... OMIM:608104
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Failure to thrive, 3-Methylglutaconic aciduria OMIM:618329
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Hypercalcemia, Renal insufficiency, Nephroblastoma... ORPHA:143
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ... OMIM:602722
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Failure to thrive, Elevated circulating creatine kinase concentra... OMIM:619055
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis, Sensorineural hearing impairment OMIM:209010
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re... ORPHA:79403
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, 4-Hydroxyphenylpyruvi... OMIM:617156
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... ORPHA:505248
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Phosphoribosylpyrophosphate Synthetase Superactivity
Low-set ears, Hearing impairment, Urolithiasis, Renal insufficiency, Hyperuricemia, Sensorineural... OMIM:300661
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, We... ORPHA:29073
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Giant Cell Arteritis
Optic atrophy, Conductive hearing impairment, Hearing impairment, Vertigo, Gastrointestinal infar... ORPHA:397
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce... OMIM:614227
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dys... ORPHA:436271
Fabry Disease
Nephropathy, Optic atrophy, Hearing impairment, Abnormal circulating lipid concentration, Vertigo... ORPHA:324
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Otitis media, Intestinal obs... ORPHA:900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dys... OMIM:220110
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Posteriorly rotated ears, Sensorineural hearing impairment ORPHA:2143
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Decreased nerve conduction velocity, Sensorineural hearing... ORPHA:1933
Klippel-Trénaunay Syndrome
Hematuria, Microcytic anemia ORPHA:90308
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... ORPHA:284426
Hemophilia B
Hematuria ORPHA:98879
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Hypercalcemia, Renal insufficiency, Nephroblastoma... ORPHA:99880
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Failure to thrive, Hyp... ORPHA:358
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Pyloric stenosis ORPHA:664
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Aniridia 3
Cataract, Aniridia OMIM:617142
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Retinitis Pigmentosa 40
Cataract OMIM:613801
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Proteinuria, Increased body weig... ORPHA:263455
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney, Abnormality of visual evoked potentials ORPHA:3121
Gapo Syndrome
High, narrow palate, Optic atrophy, Protruding ear, Tubulointerstitial fibrosis, EEG abnormality,... OMIM:230740
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Thrombocytopenia, Anorexia, Hem... ORPHA:536
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, Co... ORPHA:90068
Lymphatic Filariasis
Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Abnormality ... ORPHA:2035
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Leukocytosis, Abnormal renal tubule morphology, Weight loss ORPHA:188
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Conductive hearing impairment, Renal insufficiency, Sen... OMIM:602152
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Melas
Nephropathy, Focal segmental glomerulosclerosis, Optic atrophy, Proximal tubulopathy, Failure to ... ORPHA:550
Postinfectious Vasculitis
Elevated haptoglobin level, Hematuria, Proteinuria, Abnormal circulating protein concentration, W... ORPHA:48435
Lujo Hemorrhagic Fever
Oliguria, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Dysphagia, Thrombocytopenia... ORPHA:319213
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Sensorineural hearing impairment OMIM:264140
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Toxic Epidermal Necrolysis
Abnormality of the urethra, Polydipsia, Renal insufficiency, Weight loss, Dysphagia, Neutropenia,... ORPHA:537
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Splen... OMIM:256550
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Anorexia, Hypoproteinemia ORPHA:2494
Wild Type Attr Amyloidosis
Nephropathy, Autonomic bladder dysfunction, Renal insufficiency, Proteinuria, Orthostatic hypoten... ORPHA:330001
Propionic Acidemia
Hyperammonemia, Organic aciduria ORPHA:35
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne ORPHA:69126
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment, Renal tubular acidosis, Nephrolithiasis OMIM:267300
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Amme Complex
Hematuria, Sensorineural hearing impairment OMIM:300194
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Joubert Syndrome 35
Renal fibrosis, Low-set ears, Multicystic kidney dysplasia, Recurrent urinary tract infections, H... OMIM:618161
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Low-set ears, Renal hypoplasia, Failure to thrive, Multiple s... OMIM:118450
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... ORPHA:292
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Abnormal erythrocyte morphology, Obsessive-compulsive trait, Hematuria, ... ORPHA:324636
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Hyperactivity, Ectopic ... OMIM:235510
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insuffi... OMIM:600740
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis OMIM:217090
Galloway-Mowat Syndrome
Nephropathy, Hypoplasia of the ear cartilage, Proteinuria, Hiatus hernia, EEG abnormality, Nephro... ORPHA:2065
Spondyloenchondrodysplasia
Chronic kidney disease, Granuloma, Pancytopenia, Autoimmune hemolytic anemia, Hematuria, Proteinu... ORPHA:1855
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne... ORPHA:289390
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Recurrent otitis media, Tubulointerstitial fibrosis OMIM:607944
Congenital Factor Ii Deficiency
Anemia, Microscopic hematuria ORPHA:325
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia... ORPHA:94093
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Hypotriglyceridemia, Conductive hearing impairment, Decreased serum creatinine, Dec... OMIM:618885
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Hypocystinemia OMIM:617744
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T... ORPHA:227990
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic helices, Renal agenesis, H... OMIM:617641
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... OMIM:609015
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Sensorineural hearing impairment, Hiatus hernia, ... OMIM:609727
Malakoplakia
Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Proteinuria, N... ORPHA:556
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
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Sensorineural heari... ORPHA:254913
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Erdheim-Chester Disease
Polydipsia, Renal insufficiency, Hydronephrosis, Weight loss, Anemia, Dysuria ORPHA:35687
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Large earlobe, Renal insufficiency, Proteinuria, Glomerulopathy, Macrotia ORPHA:2715
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Gastrointestinal infarctions, Abnormal autonomic nervo... ORPHA:314652
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Renal insufficiency, Renal tubular acidosis, Renal cyst, Re... OMIM:614922
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Renal hypoplasia, Renal insufficiency, Sensorineural hearing impairment, Hypoplasia... ORPHA:85321
Immunoglobulin A Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Anorexia ORPHA:761
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria, Se... ORPHA:534
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Renal insufficiency, Otitis media, Chronic active hepatitis, Tubu... OMIM:203800
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, EEG abnormality, Hypoargininemia ORPHA:23
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... ORPHA:731
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato... ORPHA:227982
Feingold Syndrome Type 1
Nephritis, Conductive hearing impairment, Duodenal atresia, Horseshoe kidney, Renal insufficiency... ORPHA:391641
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... ORPHA:829
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:228305
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Salt crav... ORPHA:95409
Mitochondrial Trifunctional Protein Deficiency 2
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... OMIM:620300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Glycosuria, Hearing impairment, Stage 5 chronic kidney disease, Sensorineural hear... OMIM:268315
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Congenital Factor V Deficiency
Hematuria ORPHA:326
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Recurrent otitis ... ORPHA:2728
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Elevated circulating C-react... ORPHA:457077
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Nephronophthisis 19
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int... OMIM:616217
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency OMIM:173900
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Relapsing Polychondritis
Anteriorly placed anus, Vertigo, Renal insufficiency, Sensorineural hearing impairment, Hematuria... ORPHA:728
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria, Normochromic anemia ORPHA:95513
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ddost-Cdg
Nephrotic range proteinuria, Failure to thrive ORPHA:300536
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Periodontitis OMIM:619269
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Mucoepithelial Dysplasia, Hereditary
Hematuria, Furrowed tongue, Hearing impairment, Melena OMIM:158310
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Pseudobulbar paralysis, Hyponatremia, Thrombocytopenia ORPHA:449285
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatre... ORPHA:31824
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... ORPHA:159
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Papilledema, Renal insufficiency, Hearing ... ORPHA:33475
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho... ORPHA:79324
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Sensorineural hearing impairment OMIM:619406
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Cholera
Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, D... ORPHA:173
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Infection associated neutropenia, Renal insufficiency, 3-Methylglutaconic acidu... ORPHA:445038
Cataract 48
Cataract OMIM:618415
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Intestinal malrotation, Sensorineural hearing impairment, Prote... OMIM:222448
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration OMIM:618120
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abnormal urinary color ORPHA:234
Wagro Syndrome
Obesity, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Compulsive behaviors, Agit... OMIM:612469
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Increased circulating ferritin concentration... OMIM:194380
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Chronic Mucocutaneous Candidiasis
Hematuria, Recurrent urinary tract infections ORPHA:1334
Ohdo Syndrome
Proteinuria, Stenosis of the external auditory canal, Hearing impairment, Microtia OMIM:249620
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Hematuria, Weight loss, Thrombocytopenia, Anorexia, ... ORPHA:781
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Gastroesophageal reflux, Dicarboxylic aciduria, Ex... OMIM:201475
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Anemia, Urinary mulberry cells OMIM:301500
Bernard-Soulier Syndrome
Partially duplicated kidney, Macrothrombocytopenia, Giant platelets, Macroscopic hematuria ORPHA:274
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Rectal atresia, Anal atresia OMIM:613390
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i... ORPHA:79276
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... OMIM:255125
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Acquired Von Willebrand Syndrome
Hematuria, Normocytic anemia, Hypochromic anemia, Refractory anemia ORPHA:99147
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Hemophilia B
Hematuria, Gastrointestinal hemorrhage, Hematemesis, Melena OMIM:306900
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Leukocytosis, Splenomegaly, Decreased body weight, Elevated c... ORPHA:90051
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, A... ORPHA:3463
Renal Hypodysplasia/Aplasia 1
Proteinuria, Low-set ears, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess ORPHA:67
Severe Hemophilia A
Anemia, Macroscopic hematuria ORPHA:169802
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased nerve conduction velocity, Hyperornithinemia, Hyperammonemia, Homoci... OMIM:238970
Boutonneuse Fever
Leukopenia, Renal insufficiency, Thrombocytopenia ORPHA:83313
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Moderate Hemophilia A
Hematuria ORPHA:169805
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Hearing impairment, Failure to thrive, Hyperuricemia, Senso... OMIM:239000
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... ORPHA:79473
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Obesity ORPHA:3157
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Obesity, Nephronophthisis, Splenomegaly OMIM:615630
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating acylcarnitine concentration, Ketonuria, Oral-pharyngeal dysph... OMIM:616878
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct... OMIM:113650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Hypomagnesemia, Stage ... OMIM:619743
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Congenital Varicella Syndrome
Cataract ORPHA:291
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Hearing impairment, Renal insufficiency, Renal hypopla... ORPHA:261265
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Vesicoureteral reflux, R... ORPHA:2237
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Pyomyositis
Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Humeroradial Synostosis
Renal insufficiency, Small earlobe, Microtia OMIM:236400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly, Failure to thrive ORPHA:367
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydipsia, Hypokalemia, Increased C-peptide level ORPHA:769
Kawasaki Disease
Hypoalbuminemia, Sterile pyuria, Leukocytosis, Proteinuria, Thrombocytosis, Elevated circulating ... ORPHA:2331
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hyperammonemia, Abnormality of the lower urinary tract, Gastro... ORPHA:391428
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Conductive hearing impairment, Failure to thrive in infancy, Stenosis of the extern... OMIM:611209
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Hyperammonemia, 3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias ORPHA:1194
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Increased circulating surfactant protein level, Weight loss ORPHA:60025
Cornelia De Lange Syndrome 1
Low-set ears, Sensorineural hearing impairment, High palate, Ectopic kidney, Hypospadias, High, n... OMIM:122470
Kleefstra Syndrome
Gastroesophageal reflux, Hearing impairment, Obesity, Vesicoureteral reflux, Renal insufficiency,... ORPHA:261494
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, Anemia ORPHA:77261
Shigellosis
Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Failure to thrive in infancy,... ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia, Failure to thrive, Lacticaciduria OMIM:618250
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Stage 1 chronic kidney disease OMIM:618821
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure... OMIM:222700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Cholangitis, Aminoaciduria, Lacticaciduria OMIM:124000
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Vesicoureteral... OMIM:617159
Porphyria Cutanea Tarda
Increased circulating iron concentration, Cutaneous abscess, Increased circulating ferritin conce... ORPHA:101330
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Unusual gastrointestinal infection, Sensorineural hearing ... ORPHA:760
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Argininosuccinic aciduria, Elevated plasm... OMIM:603471
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Cahmr Syndrome
Lamellar cataract OMIM:211770
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency OMIM:247410
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Renal insufficiency, Cleft palate ORPHA:2165
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Renal insufficiency, Chordee, Hypospadias, Renal dyspl... ORPHA:96179
Rift Valley Fever
Hematuria, Anemia, Thrombocytopenia, Anorexia ORPHA:319251
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hearing impairment, Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Protr... ORPHA:96147
Whipple Disease
Polydipsia, Splenomegaly, Hyponatremia, Cachexia, Anorexia, Anemia ORPHA:3452
Mercury Poisoning
Hypokalemia, Acute kidney injury, Anorexia ORPHA:330021
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Pseudo-Torch Syndrome 1
Failure to thrive, Renal insufficiency, Splenomegaly, Thrombocytopenia OMIM:251290
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperproli... OMIM:620358
Beta-Ketothiolase Deficiency
Ketonuria, Thrombocytosis, Leukocytosis, Hyperammonemia, Oral aversion, Hyperuricemia, Weight los... ORPHA:134
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal mal... OMIM:300048
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252150
Martin-Probst Syndrome
Low-set ears, Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Chordee, Microp... OMIM:300519
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Abnormal urinary color, Hematuria, Renal angiomyolipo... ORPHA:538
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylc... ORPHA:79282
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinase con... ORPHA:264580
Pearson Syndrome
Glycosuria, Hypomagnesemia, Pancytopenia, Renal insufficiency, Reticulocytosis, Splenomegaly, Hyp... ORPHA:699
Agel Amyloidosis
Xerostomia, Hearing impairment, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotens... ORPHA:85448
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Weight loss ORPHA:171
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... OMIM:208500
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia ORPHA:469
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... OMIM:210210
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... OMIM:210200
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal... OMIM:270400
Gaucher Disease
Splenic infarction, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Splen... ORPHA:355
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... ORPHA:42
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Abnormal penis morphology, Acute kidney injury, Inflammatory abnormality of the skin, ... ORPHA:95455
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Hypercholesterolemia, Polyuria, Hypertriglyceridemia, Dysphagia, Small for ges... OMIM:606721
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, L... ORPHA:99829
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Weight loss, Organic aciduria ORPHA:79242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinase concentration, Increas... ORPHA:79240
Sarcoidosis
Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Keratoconjunctivitis sicca, Hy... ORPHA:797
Lamellar Ichthyosis
Abnormal helix morphology, Renal insufficiency, Chronic otitis media ORPHA:313
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, D... ORPHA:544482
Congenital Factor X Deficiency
Hematuria ORPHA:328
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Splenomegaly, Polyphagia, Hyperactivity, Thrombocytopenia, Neutrop... ORPHA:525731
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia ORPHA:220393
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Refsum Disease
Renal insufficiency, Sensorineural hearing impairment ORPHA:773
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Scrub Typhus
Renal insufficiency, Splenomegaly ORPHA:83317
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Gastroesophageal reflux, EEG with burst suppre... ORPHA:171929
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Myositis ORPHA:79078
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infections, Ele... OMIM:613179
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl... ORPHA:96148
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria, Failure to thrive OMIM:617140
Joubert Syndrome 3
Low-set ears, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... OMIM:212140
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Failure to thrive, Violent behavior, Bruxism, Obesity, Hyperbilirubinemia, ... OMIM:619475
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight... OMIM:309000
Brain-Lung-Thyroid Syndrome
Failure to thrive, Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking... ORPHA:209905
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Urethritis, Osteomyelitis, Abnormality... ORPHA:2552
Hyperlysinemia
Hypoplastic helices, Hypoornithinemia, Hyperlysinuria, Hypoplasia of the antihelix, Gastroesophag... ORPHA:2203
Isolated Sedoheptulokinase Deficiency
Anemia, Abnormal renal tubule morphology, Renal insufficiency, Hypochromic microcytic anemia ORPHA:440713
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Dysphagia OMIM:300322
Familial Dysautonomia
Optic atrophy, Gastroesophageal reflux, Renal insufficiency, Hyponatremia, Glomerulopathy, Orthos... ORPHA:1764
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Recurrent urinary tract infections, Slender build, Pancytopen... OMIM:613658
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anem... ORPHA:39041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos... ORPHA:79408
Joubert Syndrome With Renal Defect
Nephropathy, Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Cleft... ORPHA:220497
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Elevated p... OMIM:215700
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Weight loss, Dysphagia, Thrombocytopenia, Anemia... ORPHA:36426
Joubert Syndrome 2
Low-set ears, Nephronophthisis, Failure to thrive, Optic disc coloboma, Renal insufficiency, Rena... OMIM:608091
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia ORPHA:293173
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Crimean-Congo Hemorrhagic Fever
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kin... ORPHA:99827
Gaisböck Syndrome
Nephrocalcinosis, Peptic ulcer, Hypernatriuria, Vertigo, Obesity, Hyperuricemia, Hypercholesterol... ORPHA:90041
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Renal hypoplasia, Intestinal malrotation, Cleft soft palate, Abdominal obesity, Mi... OMIM:619321
Joubert Syndrome With Oculorenal Defect
Nephropathy, Aganglionic megacolon, Low-set, posteriorly rotated ears, Renal insufficiency ORPHA:2318
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Ve... OMIM:301068
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Obesity, Hyperlipidemia, Hyponatremia, Polyphagia, Aggressiv... ORPHA:293987
Familial Cold Urticaria
Polydipsia ORPHA:47045
Cardiogenic Shock
Vertigo, Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... OMIM:251110
Bardet-Biedl Syndrome 20
Proteinuria, Obesity, Micropenis, Hypercholesterolemia OMIM:619471
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomer... OMIM:619525
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Elevated u... OMIM:251100
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hyperglycinemia, H... OMIM:606054
Joubert Syndrome 6
Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis OMIM:610688
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Renal agenesis, Failure to t... ORPHA:2538
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elev... OMIM:311250
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Anal atresia, Ectop... ORPHA:140952
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary retention, Recurrent urinary tract infections, Auton... ORPHA:99027
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Acquired Generalized Lipodystrophy
Proteinuria, Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Metachromatic Leukodystrophy
Hearing impairment, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal du... ORPHA:512
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Gastroesophageal reflux, Failure to thrive, Hyperammonemia, Renal tubu... OMIM:615471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Increased circulating ferriti... OMIM:619534
Adult Krabbe Disease
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketonuria, Hyperammonemia, Eleva... ORPHA:480864
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Hypertaurinemia, Increased urinary taurine, Hypocystinemia OMIM:615501
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hyperammonemia, Failure to thrive OMIM:615453
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis OMIM:619351
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive,... OMIM:133540
Ogden Syndrome
Polycythemia, Hyperbilirubinemia, Motor stereotypy, Global glomerulosclerosis, Iron deficiency an... OMIM:300855
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Gastroesophageal reflux, Failure to thrive, Hyperechogenic kidneys, Low-set, poster... ORPHA:397715
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Elevated circulati... OMIM:249100
Developmental And Epileptic Encephalopathy 50
Failure to thrive, Oroticaciduria, Hyperammonemia, Renal tubular acidosis, Dysphagia OMIM:616457
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Optic atrophy, Gastroesophageal reflux, Progressive ... ORPHA:191
Waldenström Macroglobulinemia
Normocytic anemia, Renal insufficiency, Splenomegaly, Anorexia, Leukemia, Abnormality of neutrophils ORPHA:33226
Argininosuccinic Aciduria
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... OMIM:207900
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252160
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, High palate, Abnormal auditory evoked potentials, Abnormality of visual evoked... OMIM:617523
Biotinidase Deficiency
Optic atrophy, Hyperammonemia, Organic aciduria, Sensorineural hearing impairment OMIM:253260
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Urinary bladder inflammation, Abnormal esophagus physiology,... ORPHA:99921
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Leukocytosis, Splenomegaly, Proteinuria, Nephrotic syndrome ORPHA:342
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anorexia, Decreased proportion of naive T cel... OMIM:619381
Joubert Syndrome With Hepatic Defect
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Optic disc coloboma, Renal insufficiency... ORPHA:1454
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Anteriorly placed... OMIM:620305
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperur... ORPHA:20
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Too... ORPHA:289176
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure t... OMIM:229600
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Anal stenosis, Bladder exstrophy, Horseshoe kidney, ... ORPHA:322
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Gastric varix, Hepatocellular carcinoma OMIM:613490
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231222
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Leukocy... OMIM:620565
Tuberous Sclerosis Complex
Chronic kidney disease, Self-injurious behavior, Stage 5 chronic kidney disease, Renal insufficie... ORPHA:805
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Low-set ears, Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Hy... OMIM:614052
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Renal insufficie... ORPHA:3261
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosens... ORPHA:1187
Holocarboxylase Synthetase Deficiency
Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Org... OMIM:253270
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction... OMIM:216400
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Sensorineural hearing impairment, Rectoperineal fistula, Anal atres... OMIM:107480
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Failure to thrive, Hypoalbuminemia ORPHA:79396
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent... ORPHA:90324
Biotinidase Deficiency
Optic atrophy, Organic aciduria, Hearing impairment, Hyperammonemia, Sensorineural hearing impair... ORPHA:79241
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit... ORPHA:73263
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Lymphopenia, Hypocholesterolemia,... ORPHA:90363
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Renal insufficiency OMIM:203300
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Hearing impairment, Tongue nodules, Hamartoma of tongue, Renal insu... ORPHA:2750
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Refractory anemia, Hypoalbuminemia ORPHA:79076
Hermansky-Pudlak Syndrome
Weight loss, Renal insufficiency, Neutropenia, Anorexia ORPHA:79430
Orofaciodigital Syndrome I
Low-set ears, Hearing impairment, Hamartoma of tongue, Ankyloglossia, Proteinuria, Bifid tongue, ... OMIM:311200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Failure to thrive, High palate, Small fo... OMIM:193700
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Gastroesophageal reflu... ORPHA:206436
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Co... ORPHA:186
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis ORPHA:449427
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Vesicoureteral reflux, Splenomegaly, Leukocytosis, Elevated circulating creati... OMIM:615895
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Anemia OMIM:208060
Serotonin Syndrome
Acute kidney injury, Restlessness, Agitation ORPHA:43116
Caroli Disease
Leukocytosis, Splenomegaly, Weight loss, Conjugated hyperbilirubinemia, Anorexia, Polycystic kidn... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Hypercholesterolemia, Hyperammonemia OMIM:620454
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Dysphagia ORPHA:25
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Dilatation of the renal pelvis, Fai... OMIM:616580
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Abnormal stomach morphology,... ORPHA:141127
Fanconi Anemia
Hearing impairment, Aplasia/Hypoplasia of the uvula, Renal hypoplasia/aplasia, Weight loss, Anal ... ORPHA:84
Scalp-Ear-Nipple Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cupped ear, Underdevelope... OMIM:181270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomer... OMIM:267010
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio... ORPHA:533
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Cranioectodermal Dysplasia 4
Protruding ear, Stage 5 chronic kidney disease OMIM:614378
Degcags Syndrome
Chronic kidney disease, Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Hyperbilirub... OMIM:619488
Holoprosencephaly
Optic atrophy, Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive in i... ORPHA:2162
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Aymé-Gripp Syndrome
Low-set ears, Stenosis of the external auditory canal, Sensorineural hearing impairment, Proteinu... ORPHA:1272
Townes-Brocks Syndrome
Renal hypoplasia, Rectovaginal fistula, Hearing impairment, Failure to thrive, Anteriorly placed ... ORPHA:857
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Orofaciodigital Syndrome Type 3
Low-set ears, Bifid uvula, Hamartoma of tongue, Stage 5 chronic kidney disease, Lobulated tongue ORPHA:2752
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Williams Syndrome
Sensorineural hearing impairment, Chronic otitis media, Macrotia, Rectal prolapse, Gastroesophage... ORPHA:904
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Addison Disease
Failure to thrive, Celiac disease, Vertigo, Hyperuricemia, Hyponatremia, Decreased urinary potass... ORPHA:85138
Argininemia
Oroticaciduria, Diaminoaciduria, Hyperammonemia, Hyperargininemia OMIM:207800
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... ORPHA:3008
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Nephrolithiasis, Hematu... ORPHA:774
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Increased urinary glycerol ORPHA:348
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hearing impairment, Celiac disease, ... ORPHA:110
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Williams-Beuren Syndrome
Recurrent otitis media, Sensorineural hearing impairment, Celiac disease, Rectal prolapse, Gastro... OMIM:194050
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Hyperlipidemia OMIM:608612
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive hearing impairment, Atresia of ... ORPHA:199
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... ORPHA:157798
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive OMIM:616881
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Brucellosis
Granuloma, Failure to thrive, Anorexia, Intrarenal abscess, Leukopenia, Hypersplenism, Leukocytos... ORPHA:1304
Lathosterolosis
Horseshoe kidney, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Pmm2-Cdg
Hypoalbuminemia, Failure to thrive, Reduced thyroxin-binding globulin, Proteinuria, Impaired neut... ORPHA:79318
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Ile... OMIM:609136
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... ORPHA:466677
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Macroglossia, Acute kidney injury, Nephronophthisis, Bifid uvula, Failure to thrive... OMIM:266920
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornithinem... ORPHA:415
Cranioectodermal Dysplasia 2
Low-set ears, Hyperbilirubinemia, Renal insufficiency, Simple ear, Renal cyst, High palate, Cleft... OMIM:613610
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Leptospirosis
Acute kidney injury, Cellular urinary casts, Thrombocytopenia, Anorexia, Hyperproteinemia ORPHA:509
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Proteinuria, Hiatus hernia OMIM:616682
Interstitial Lung And Liver Disease
Aminoaciduria, Hyperammonemia, Failure to thrive OMIM:615486
Behçet Disease
Renal insufficiency, Splenomegaly, Glomerulopathy, Weight loss, Anorexia ORPHA:117
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
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, High palate... ORPHA:79330
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Renal insufficiency, Abscess, Eosinophilia, Abnormality of ... ORPHA:228123
Digeorge Syndrome
Unilateral renal agenesis, Obesity, Renal insufficiency, Splenomegaly, Hypocalcemia, Hydronephros... OMIM:188400
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Costello Syndrome
Low-set ears, Failure to thrive, Renal insufficiency, Vestibular schwannoma, Macroglossia, High p... OMIM:218040
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Abnormal temper tantrums, Dilatation of the renal pelvis, Renal ag... ORPHA:2044
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Bronchiectasis ORPHA:90348
Acute Liver Failure
Hyperammonemia, Acute kidney injury, Agitation, Thrombocytopenia ORPHA:90062
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Cachexia, Splenomegaly ORPHA:75565
Sotos Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Renal agenesis, Hearing impairment, Hyper... ORPHA:821
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Abscess, Self-mutilation, Tooth abscess, Hyperactivity, Nail-biting, Anem... ORPHA:642
Liver Disease, Severe Congenital
Aminoaciduria, Protein-losing enteropathy, Failure to thrive, Recurrent urinary tract infections,... OMIM:619991
African Trypanosomiasis
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Aggressive behavior, Weight loss, Urinary ... ORPHA:3385
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Viss Syndrome
Low-set ears, Exostosis of the external auditory canal, Cleft soft palate, Celiac disease, High p... OMIM:619472
Alström Syndrome
Chronic kidney disease, Glomerulonephritis, Thickened ears, Urinary incontinence, Optic disc pall... ORPHA:64
Blau Syndrome
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Splenomegaly, Anemia ORPHA:90340
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367

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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