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Gene: Mocs2 MGI:1336894

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Gene Summary

Name:
molybdenum cofactor synthesis 2
Synonyms:
N/A

Order Alleles

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
decreased body length Mocs2tm1b(EUCOMM)Wtsi HET Early adult 2.43×10-05
increased fasting circulating glucose level Mocs2tm1b(EUCOMM)Wtsi HET   Early adult 2.14×10-05
preweaning lethality, complete penetrance Mocs2tm1b(EUCOMM)Wtsi HOM   Early adult 4.24×10-05
persistence of hyaloid vascular system Mocs2tm1b(EUCOMM)Wtsi HET   Early adult 6.22×10-05
decreased circulating sodium level Mocs2tm1b(EUCOMM)Wtsi HET Early adult 8.90×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Mocs2 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 Mocs2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur... OMIM:252160

The table below shows human diseases predicted to be associated to Mocs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Sulfite oxidase deficiency, Recurrent urinary tract infe... ORPHA:3467
Xanthinuria, Type Ii
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... OMIM:603592
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w... OMIM:617950
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Molybdenum Cofactor Deficiency, Complementation Group C
Sulfite oxidase deficiency, Increased urinary taurine, Hypertaurinemia, Polymicrogyria, Molybdenu... OMIM:615501
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... OMIM:616026
Molybdenum Cofactor Deficiency, Complementation Group A
Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Reduced xan... OMIM:252150
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... ORPHA:411634
Fanconi-Bickel Syndrome
Glycosuria, Reduced subcutaneous adipose tissue, Hyperphosphaturia, Hypophosphatemia, Hypokalemia... OMIM:227810
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Saccharopinuria
Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac... OMIM:268700
2P21 Microdeletion Syndrome
Long eyelashes, Cystinuria, Failure to thrive, Growth delay, Hypocalcemia, Nephrolithiasis ORPHA:163693
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Reduced 5-oxoprolinase level, Increased level of L-p... OMIM:260005
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... ORPHA:3337
Threoninemia
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:273770
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta... OMIM:611881
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Abnormal lactate dehydrogenase level, Proteinuria, Hematuria ORPHA:2134
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Galactosuria, ... OMIM:230350
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Elevated circulating alanine aminotransferase concentration,... OMIM:300555
Nephrotic Syndrome, Type 17
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... OMIM:618176
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Aminoaciduria, Failure to thrive, Severe short stature ORPHA:2278
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Short stature, Hypoplasia of penis, Delayed puberty, Hypospadias, Ge... ORPHA:1816
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... OMIM:608709
Thrombotic Thrombocytopenic Purpura
Generalized muscle weakness, Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinu... ORPHA:54057
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur... OMIM:252160
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Hypotonia-Cystinuria Syndrome
Failure to thrive, Nephrolithiasis, Growth delay, Cystinuria ORPHA:163690
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Long eyelashes, Cystinuria, Failure to thrive, Muscle weakness, Hypocalcemi... OMIM:606407
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Preeclampsia
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... ORPHA:275555
Valinemia
Hypervalinemia, Valinuria, Muscle weakness, Failure to thrive OMIM:277100
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Purpura, Nephritis, ... OMIM:161950
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Preeclampsia/Eclampsia 1
Proteinuria, Elevated hepatic transaminase, Intrauterine growth retardation OMIM:189800
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... ORPHA:79233
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... OMIM:609814
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... ORPHA:567544
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Acute Intermittent Porphyria
Urinary incontinence, Porphyrinuria, Proximal muscle weakness in lower limbs, Urinary retention, ... ORPHA:79276
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis, Decreased mucosal sucrase-isomaltase activity OMIM:222900
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Muscle weakness, Homocystinuria, Hyperhomocystinemia OMIM:236250
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Intrauteri... OMIM:603358
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Pallor, Prolonged neonatal jaundice, D... OMIM:300908
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Growth delay, Weight loss ORPHA:79238
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Acquired Partial Lipodystrophy
Glomerulopathy, Progeroid facial appearance, Proteinuria, Generalized hirsutism, Microscopic hema... ORPHA:79087
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatitis, Hemoglobinuria, Jaundice, Pallor, Increased circulating ferritin concentration OMIM:194380
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... OMIM:143880
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Nephrolithia... OMIM:277900
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... ORPHA:411543
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive, Abnormality of neuronal migration OMIM:236795
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru... OMIM:620010
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome, Acrocyanosis OMIM:123540
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... OMIM:300009
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat... OMIM:617056
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration, Muscle weakness, Myoglobinuria... OMIM:232600
Hartnup Disorder
Cutaneous photosensitivity, Neutral hyperaminoaciduria, Short stature OMIM:234500
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Hellp Syndrome
Acute kidney injury, Hemoglobinuria, Elevated hepatic transaminase, Increased circulating lactate... ORPHA:244242
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Obe... ORPHA:261222
Stimmler Syndrome
Aminoaciduria, Intrauterine growth retardation, Short stature ORPHA:3199
Stiff Skin Syndrome
Lack of skin elasticity, Abnormal circulating lipid concentration, Short stature, Muscle weakness... ORPHA:2833
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Short stature, Urinary retention, Foot dorsiflexor weakness, Growth delay OMIM:616586
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal... OMIM:134600
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Elevated circulating creatine kinase concentration, Distal muscle... OMIM:614455
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Muscle weakness, Impaired urinary acidification, Neph... OMIM:179800
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Urticaria OMIM:615399
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Elevated hepatic transaminase, Chronic kidne... OMIM:602114
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... OMIM:613496
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive, Gowers sign OMIM:612718
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Obesity OMIM:615995
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Camptodactyly 1
Increased urinary taurine OMIM:114200
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Short stature ORPHA:417
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria OMIM:606528
Galactosemia I
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga... OMIM:230400
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Lesch-Nyhan Syndrome
Renal insufficiency, Hyperuricemia, Hematuria ORPHA:510
Porphyria, Acute Intermittent
Urinary incontinence, Respiratory paralysis, Urinary retention, Dysuria, Muscle weakness, Elevate... OMIM:176000
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Obesity OMIM:615987
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Lisse... OMIM:613404
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... ORPHA:2197
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Lessel-Kubisch Syndrome
Premature graying of hair, Short stature, Sparse pubic hair, Renal hypoplasia, Renal insufficiency OMIM:618681
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... ORPHA:90038
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis, Short stature ORPHA:1837
Cednik Syndrome
Short stature, Nephrotic syndrome, Pachygyria, Poor head control, Proteinuria, Polymicrogyria ORPHA:66631
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Short stature, Increased circulating beta-C-termina... ORPHA:157215
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Cystinuria, Abnormality of circulat... ORPHA:3124
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia,... OMIM:278300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Gowers sign, Elevated circulating creatine kinase concentration, Facial diplegia, ... OMIM:609560
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Jaundice, Abnormal er... ORPHA:447
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... OMIM:615158
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... OMIM:120330
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... OMIM:601198
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, External ophthalmoplegia, Weight loss, Cachexia, Failure to ... OMIM:612075
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Hirsutism, Abnormality of the urethra ORPHA:2795
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Cog7-Cdg
Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, El... ORPHA:79333
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Renal dysplasia, Small for gestational age, Muscle... OMIM:616733
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Premature skin wrinkling, Unilateral renal agenesis, Intrauterine growth retardation,... OMIM:616603
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... OMIM:611555
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation OMIM:617219
Carnosinemia
Carnosinuria OMIM:212200
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Bardet-Biedl Syndrome 16
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... OMIM:615993
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic acidemia, Ophthalmoplegia, Elevated circulating creatine kinase conc... OMIM:612073
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay OMIM:238750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Distal upper limb muscle weakness, Proximal muscle weakness, Progressive proximal muscle weakness... OMIM:620138
Wound Botulism
Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus... ORPHA:178475
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ... OMIM:246450
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ... OMIM:300554
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Striae distensae, Proximal muscle weakness, Abnormal subcutaneous fat tissue distributi... ORPHA:189439
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria OMIM:238700
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay, Positive ferric chloride test OMIM:229100
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Purpura, Proteinuria, Renal insufficiency ORPHA:375
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Abnormal circulating lipid concentration, External ophthalmoplegia, Muscle weakne... ORPHA:225
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Foix-Alajouanine Syndrome
Urinary incontinence, Urinary retention, Neurogenic bladder, Lower limb muscle weakness, Muscle w... ORPHA:79093
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Glyoxalase deficiency, Increased level of L-pyroglutamic ac... OMIM:231900
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... OMIM:615605
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Muscle weakness OMIM:232800
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, ... OMIM:300661
Amyloidosis, Familial Visceral
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome OMIM:105200
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Decreased HDL cholesterol concentration, P... OMIM:245900
Cryoglobulinemic Vasculitis
Glomerulopathy, Petechiae, Skin ulcer, Hematuria, Purpura, Cutis marmorata, Viral hepatitis, Musc... ORPHA:91138
Cystinosis
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Dela... ORPHA:213
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Short stature, Fine hair,... ORPHA:634
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... ORPHA:93598
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci... OMIM:241530
Botulism
Diaphragmatic paralysis, Diaphragmatic weakness, Muscle flaccidity, Urinary retention ORPHA:1267
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Short stature, Urinary retention, Muscle weakness, Growth delay ORPHA:447760
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Striae distensae, Proximal muscle weakness, Renal cell carcinoma, Bruising susceptibili... ORPHA:189427
Iatrogenic Botulism
Diaphragmatic paralysis, Muscle weakness, Urinary retention ORPHA:254509
Homocarnosinosis
Carnosinuria OMIM:236130
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Abnormality of ... ORPHA:79404
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Foodborne Botulism
Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus... ORPHA:228371
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... ORPHA:35710
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Failure to thrive, Increased blood urea nitrogen, Polyuria, Hy... OMIM:613845
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Short stature, Cachexia, Elevated circulating creatine kinase concentration, Methy... ORPHA:1933
Argininosuccinic Aciduria
Aminoaciduria, Trichorrhexis nodosa, Short stature, Oroticaciduria, Abnormal hair quantity, Hyper... ORPHA:23
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Phenylketonuria
Aminoaciduria ORPHA:716
Lesch-Nyhan Syndrome
Hyperuricemia, Short stature, Poor head control, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria OMIM:300322
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis ORPHA:214
Adrenomyeloneuropathy
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Urinary urgency, ... ORPHA:139399
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Elevated circulatin... ORPHA:228302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... OMIM:162000
Glycogen Storage Disease Ia
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De... OMIM:232200
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Hypoalbuminemia, Nephrotic syndrome OMIM:614652
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Fine hair, Elevated circulating creatine kinase concentration, Increa... OMIM:272300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubuloin... OMIM:614376
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Lower limb muscle weakness, Acute kidney injury, Exercise-induced myoglobinuri... ORPHA:99845
Heme Oxygenase 1 Deficiency
Elevated circulating alanine aminotransferase concentration, Hematuria, Nephritis, Elevated circu... OMIM:614034
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Transaldolase Deficiency
Telangiectasia, Abnormality of the kidney, Premature skin wrinkling, Increased serum bile acid co... ORPHA:101028
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... OMIM:301006
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... OMIM:603278
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Short stat... OMIM:616901
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Positive ferric chloride test OMIM:250900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Jaundice... OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Urinary retention, Small for gestational age, Thin nail, Growth delay, Poor head c... OMIM:617799
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Glutathionuria
Urinary incontinence, Gray matter heterotopia, Reduced gamma-glutamyltransferase level, Glutathio... OMIM:231950
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Increase... ORPHA:890
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Late-onset proximal muscle weakness, Weight loss, Urinary retention, Transi... ORPHA:79102
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... ORPHA:97362
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Nephropathy, Decreased glomerular filtration rate, Elevated circulating cre... OMIM:242530
Non-Functioning Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Pallor, Flushing... ORPHA:94080
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin... OMIM:616299
Flotch Syndrome
Sparse eyelashes, Nephrolithiasis, Abnormal eyelash morphology, Abnormality of the nail ORPHA:2045
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Methylmalonic acidemia, Hyperhomocystinemia, Failure to thrive, Methylmalonic acid... OMIM:309541
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration, Muscle wea... OMIM:268200
Inhalational Botulism
Muscle weakness, Urinary retention ORPHA:254504
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Pachygyria, Nephrolithiasis, Lissencephaly OMIM:619827
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Reduced C-peptide level, Hypophosphatemic rickets, Urinary retention ORPHA:2126
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Hypokalemia, Purpura, Bruising susceptibility, Ecchymosis, Hir... OMIM:219090
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome OMIM:617006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Abnormality of the kidney, Elevated hepatic transaminase, Failure to thrive, Delay... ORPHA:369
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Failure to thrive, Poor head con... OMIM:616034
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Nephrolithiasis, Short stature OMIM:620023
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... OMIM:104200
Tyrosinemia Type 1
Acute hepatic failure, Generalized aminoaciduria ORPHA:882
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Nephrotic ... ORPHA:85450
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Dermotrichic Syndrome
Hyperconvex toenail, Aminoaciduria, Proportionate short stature, Nail dystrophy ORPHA:99688
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Galloway-Mowat Syndrome 6
Decreased body weight, Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmen... OMIM:618347
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Nephrolithiasis, Progressive external ophthalmo... ORPHA:352447
Fatal Familial Insomnia
Weight loss, Urinary retention OMIM:600072
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Cockayne Syndrome Type 3
Dry hair, Cutaneous photosensitivity, Urinary retention, Neurogenic bladder, Premature graying of... ORPHA:90324
Glutathione Synthetase Deficiency
Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine OMIM:266130
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Muscle weakness, Myoglobinuria, Elevated circulating creatine kinase concent... OMIM:160010
Amyloidosis, Finnish Type
Bulbar palsy, Renal insufficiency, Cutis laxa, Nephrotic syndrome OMIM:105120
Cog5-Cdg
Urinary incontinence, Short stature, Neurogenic bladder, Premature skin wrinkling, Elevated hepat... ORPHA:263487
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Relapsing Fever
Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Acute kidne... ORPHA:91547
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Hsd10 Disease
Abnormal urinary acylglycine profile, Postnatal growth retardation, Elevated urinary 3-hydroxybut... ORPHA:391417
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... OMIM:613388
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Failure to thrive, Increased circulating guanosine concentrat... OMIM:613179
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Abnormality of alkaline phosphatase level, Stage 5 chronic kidney disease, Abnorma... OMIM:137920
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice ORPHA:33574
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Proteinuria, Pachygyria, Steroid-resistant nephrotic syndrome, Fo... OMIM:617731
Familial Reactive Perforating Collagenosis
Abnormal fingernail morphology, Dermatological manifestations of systemic disorders, Chronic kidn... ORPHA:79147
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Myasthenic Syndrome, Congenital, 22
Muscle weakness, Short stature, Proximal muscle weakness, Cystinuria OMIM:616224
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
Rhabdoid Tumor
Oculomotor nerve palsy, Weight loss, Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Short stature, Hydroxyprolinuria, Elevated circulating alkaline... OMIM:239000
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:614736
Parkes Weber Syndrome
Urinary retention, Nephrotic syndrome, Prominent superficial blood vessels, Lower limb muscle wea... ORPHA:90307
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia ORPHA:664
Nephronophthisis
Renal insufficiency ORPHA:655
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Generalized muscle weakness, Glycosuria, Hyperphosphaturia, Fatigable weakness of ... ORPHA:436271
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... OMIM:600740
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methionine synthase activity, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive... OMIM:250940
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Urinary retention, Jaundice, Elevated hepatic transaminase, Chronic hepatic failure, Portal hyper... ORPHA:79124
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Ge... OMIM:231680
Glycogen Storage Disease Ib
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De... OMIM:232220
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Hereditary Mucoepithelial Dysplasia
Alopecia, Hematuria, Fine hair, Abnormality of the bladder, Sparse hair ORPHA:1839
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Renal tubular acido... ORPHA:2088
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:488594
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Ectodermal dysplasia, Small nail, Hypoplastic nipples, Sparse hair OMIM:273400
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Muscle weakness, Renal insufficiency, Myoglobinuria OMIM:255110
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Decreased methionine synthase activity, Cystat... OMIM:277400
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler... OMIM:256300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness ORPHA:3129
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature, Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Ophthalmoparesis, Increased urine alpha-ketoglutara... ORPHA:79101
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Failure to thrive, Intrauterine growth retardation, Renal insuffic... OMIM:613861
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Failure to thrive, Renal hypoplasia OMIM:604273
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... OMIM:612933
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria OMIM:605899
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Renal salt wasting, Increased cir... ORPHA:95409
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Dyschondrosteosis-Nephritis Syndrome
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... ORPHA:1765
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Decreased succinic semialdehyde dehydrogenas... OMIM:271980
Sialidosis Type 1
Aminoaciduria, Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary... ORPHA:812
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration OMIM:611773
Granulomatous Slack Skin
Cutis laxa, Acute kidney injury, Redundant skin, Hypercalcemia, Erythema, Nephrocalcinosis ORPHA:33111
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... OMIM:236270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Elevated crea... ORPHA:284426
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Glycogen Storage Disease Due To Aldolase A Deficiency
Reduced circulating aldolase concentration, Acute kidney injury, Hyperkalemia, Elevated creatine ... ORPHA:57
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Elevated circulating creatine kinase concentration, Increased blood urea ni... ORPHA:231111
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia ORPHA:254857
Galloway-Mowat Syndrome 4
Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,... OMIM:617730
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ... OMIM:618384
Pediatric Systemic Lupus Erythematosus
Alopecia, Increased circulating lactate dehydrogenase concentration, Nephrotic syndrome, Hematuri... ORPHA:93552
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Exercise-induced myoglobinuria, Elevated circulating creatine kinase ... OMIM:300559
Multiple Mitochondrial Dysfunctions Syndrome 3
Generalized muscle weakness, Hyperglycinemia, Beta-aminoisobutyric aciduria, Intrauterine growth ... OMIM:615330
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Acquired Ichthyosis
Renal insufficiency, Dry skin, Erythema ORPHA:454
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:261670
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome ORPHA:1192
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia, Optic atrophy, Hyponatremia OMIM:608688
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613779
Gapo Syndrome
Alopecia, Sparse eyebrow, Short stature, Prematurely aged appearance, Growth delay, Sparse eyelas... ORPHA:2067
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... OMIM:607665
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Alstrom Syndrome
Tubulointerstitial nephritis, Alopecia, Hyperuricemia, Short stature, Chronic active hepatitis, E... OMIM:203800
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Porphyria Variegata
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Skin ves... ORPHA:79473
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Abnormal renal physiology, Incr... OMIM:274150
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... ORPHA:276621
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Lethal Ataxia With Deafness And Optic Atrophy
Neck muscle weakness, Muscle weakness, Abnormal erythrocyte enzyme level, Hypouricemia ORPHA:1187
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Glycosuria, Hyperphosphaturia, Jaun... OMIM:229600
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Dry ... OMIM:617671
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Ophthalmoparesis, Glycosuria, Hyperphosphaturia, Failure to thrive, Decreased live... OMIM:220110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Nephrolithiasis, Fetal pyelectasis, Recurrent urinary tract infections OMIM:619365
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Abnormal hair morphology, Hyperornithinemia ORPHA:414
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... OMIM:308940
Nephrosialidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome OMIM:256150
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria OMIM:174810
Argininosuccinic Aciduria
Aminoaciduria, Dry hair, Trichorrhexis nodosa, Brittle hair, Episodic ammonia intoxication, Eleva... OMIM:207900
Marcus-Gunn Syndrome
Nephrolithiasis, Postnatal growth retardation ORPHA:91412
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Abnormal circulating enzyme concen... ORPHA:348
Stormorken Syndrome
Proximal muscle weakness, Short stature, Hematuria, Bruising susceptibility, Elevated circulating... OMIM:185070
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Lysinuric Protein Intolerance
Aminoaciduria, Short stature, Cutis laxa, Stage 5 chronic kidney disease, Fine hair, Oroticacidur... OMIM:222700
Fumarase Deficiency
Aminoaciduria, Hepatic failure, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Pallor, ... OMIM:606812
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss ORPHA:90060
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Periventricular heterotopia, Methylmalonic acidemia, Eleva... OMIM:614105
Becker Muscular Dystrophy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Muscle weaknes... ORPHA:98895
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Ddost-Cdg
Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Failure to thrive, Dry... ORPHA:300536
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Hypoplast... OMIM:608836
Leber Congenital Amaurosis 1
Hyperthreoninemia, Hyperthreoninuria, Growth delay OMIM:204000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Synophrys, Fine hair, Glomerular sclerosis, Glomerulonephritis, Hypospadias, ... OMIM:619428
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... ORPHA:368
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... OMIM:145981
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, El... ORPHA:157
Alg8-Cdg
Cutis laxa, Small for gestational age, Abnormality of subcutaneous fat tissue, Premature skin wri... ORPHA:79325
Free Sialic Acid Storage Disease
Proteinuria, Skin ulcer, Failure to thrive in infancy, Nephrotic syndrome ORPHA:834
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... ORPHA:49041
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... ORPHA:251004
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic a... OMIM:210210
Acute Transverse Myelitis
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Decreased circula... ORPHA:139417
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Failure to thrive, Duplicated collecting system, Decreased liver f... OMIM:617093
Immunoneurologic Disorder, X-Linked
Small for gestational age, Progressive proximal muscle weakness, Neonatal death, Functional abnor... OMIM:300076
Congenital Hypothyroidism
Short stature, Abnormal hair morphology, Prolonged neonatal jaundice, Angiokeratoma corporis diff... ORPHA:442
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... ORPHA:2364
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Purpura, Glomerul... ORPHA:93126
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Short stature, Stage 5 chronic kidney disease, Enlarged kidn... ORPHA:79259
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive OMIM:250620
Liddle Syndrome
Muscle weakness, Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Subcutaneous hemorrhage OMIM:603585
Legionnaires Disease
Hepatitis, Jaundice, Hematuria, Muscle weakness, Proteinuria, Hyponatremia, Renal insufficiency ORPHA:549
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Glanzmann Thrombasthenia
Purpura, Bruising susceptibility, Ecchymosis, Macroscopic hematuria, Spontaneous hematomas ORPHA:849
Bohring-Opitz Syndrome
Nephroblastoma, Short stature, Urinary retention, Synophrys, Hypertrichosis, Severe failure to th... ORPHA:97297
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Multiple Mitochondrial Dysfunctions Syndrome 1
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... OMIM:605711
Myh9-Related Disease
Elevated hepatic transaminase, Nephritis, Bruising susceptibility, Nephropathy, Proteinuria, Rena... ORPHA:182050
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperammonemia, Acute hepatitis, Hyperornithinemia, Decreased liver function, ... OMIM:238970
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Cockayne Syndrome
Urinary incontinence, Dry hair, Hyperuricemia, Cutaneous photosensitivity, Nephrotic syndrome, Ne... ORPHA:191
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Elevated hepatic transaminase,... OMIM:610965
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Neck flexor weakness, Proximal muscle weakness, Gowers sign... ORPHA:254854
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Short stature, Stage 5 chronic kidney disease, Small for gestational... ORPHA:1830
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Leigh Syndrome
Frontal hirsutism, Lacticaciduria, Alopecia, 3-Methylglutaconic aciduria, Hyperalaninemia, Renal ... ORPHA:506
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Small nail, Ketonuria, Large for gestational age, Failure to thrive, Polymicrogyria OMIM:614520
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Hyperuricemia, Jaundice, Hypophosphatemia, Chronic he... ORPHA:469
Lamellar Ichthyosis
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nai... ORPHA:313
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Punctate vasculitis skin lesions, Elevated hepatic transaminase, Hematuria, Vascu... OMIM:192315
Visceral Myopathy 1
Vesicoureteral reflux, Hydronephrosis, Urinary retention, Megacystis OMIM:155310
Ruvalcaba Syndrome
Hematuria, Delayed puberty, Abnormal localization of kidney, Generalized hirsutism, Intrauterine ... ORPHA:3121
Camurati-Engelmann Disease
Urinary retention, Abnormal subcutaneous fat tissue distribution, Cachexia, Elevated circulating ... ORPHA:1328
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease ORPHA:3156
Giant Cell Arteritis
Alopecia, Hepatic failure, Weight loss, Ophthalmoparesis, Skin ulcer, Hematuria, Muscle weakness,... ORPHA:397
Combined Deficiency Of Factor V And Factor Viii
Bruising susceptibility, Hyperuricemia, Hematuria, Hyperlipidemia ORPHA:35909
Congenital Disorder Of Glycosylation, Type Iie
Elevated circulating alanine aminotransferase concentration, Short stature, Neurogenic bladder, E... OMIM:608779
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Palmoplantar cutis laxa, Short stature, Cutis laxa, Premature skin wrin...