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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 circulating sodium level Mocs2tm1b(EUCOMM)Wtsi HET Early adult 8.90×10-06
increased fasting circulating glucose level Mocs2tm1b(EUCOMM)Wtsi HET   Early adult 2.14×10-05
decreased body length Mocs2tm1b(EUCOMM)Wtsi HET Early adult 2.43×10-05
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

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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

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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
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... 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
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... ORPHA:3467
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala... OMIM:617950
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Ketonuria, Hypouricemia, Elevated circulating aspartate... OMIM:227810
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Molybdenum Cofactor Deficiency, Complementation Group C
Poor head control, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Incr... OMIM:615501
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large... OMIM:616026
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H... OMIM:252150
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Growth delay, Long eyelashes, Hypocalcemia, Failure to thrive ORPHA:163693
Saccharopinuria
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... OMIM:268700
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
5-Oxoprolinase Deficiency
Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu... OMIM:260005
Threoninemia
Growth delay, Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Galactosemia Iii
Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase activity, Hypergalactosemia, ... OMIM:230350
Atypical Hemolytic Uremic Syndrome
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria ORPHA:2134
Glycogen Storage Disease Xii
Short stature, Elevated circulating creatine kinase concentration, Jaundice, Elevated circulating... OMIM:611881
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... OMIM:308990
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Severe short stature, Abnormal fingernail morphology ORPHA:2278
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... OMIM:300555
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Renal p... ORPHA:3337
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Short stature, Nephrolithiasis, De... ORPHA:1816
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... OMIM:252160
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163690
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Generalized muscle weakne... ORPHA:54057
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Hypotonia-Cystinuria Syndrome
Facial palsy, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalc... OMIM:606407
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... ORPHA:275555
Iga Nephropathy, Susceptibility To, 1
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... OMIM:161950
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Hyper-Beta-Alaninemia
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia OMIM:237400
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Valinemia
Hypervalinemia, Valinuria, Failure to thrive, Muscle weakness OMIM:277100
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Abnormal circulating enzyme concentration or activ... ORPHA:79276
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Intrauterine growth retardation, Proteinuria OMIM:189800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Muscle weakness, Hyperhomocystinemia OMIM:236250
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239510
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... OMIM:603358
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Sucrase-Isomaltase Deficiency, Congenital
Decreased mucosal sucrase-isomaltase activity, Nephrolithiasis OMIM:222900
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Hemoglobinuria, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, D... OMIM:300908
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Jaundice, Weight loss ORPHA:79238
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Progeroid facial appearance, Microscopic hematuria, Generalized hirs... ORPHA:79087
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Jaundice, Hepatitis, Hemoglobinuria, Pallor OMIM:194380
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive, Abnormality of neuronal migration OMIM:236795
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature, Elevated circulating aspartate aminotransferase concentration, Conjug... OMIM:620010
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Inc... ORPHA:411543
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Hartnup Disorder
Cutaneous photosensitivity, Short stature, Neutral hyperaminoaciduria OMIM:234500
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... ORPHA:261222
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Poor wound healing, Increased body weight, Hemoglobin... ORPHA:244242
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Stimmler Syndrome
Intrauterine growth retardation, Aminoaciduria, Short stature ORPHA:3199
Glycogen Storage Disease V
Dark urine, Elevated circulating creatine kinase concentration, Hyperuricemia, Myoglobinuria, Mus... OMIM:232600
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness OMIM:612300
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... OMIM:617056
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Urinary incontinence, Growth delay, Urinary retention, Foot dorsiflexor weakness OMIM:616586
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal muscle weakness, Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 ... OMIM:614455
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... OMIM:232800
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Stiff Skin Syndrome
Short stature, Nephrolithiasis, Lack of skin elasticity, Abnormal circulating lipid concentration... ORPHA:2833
Hyperprolinemia, Type I
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239500
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m... OMIM:602114
Tiglic Acidemia
Aminoaciduria OMIM:275190
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... OMIM:619386
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Camptodactyly 1
Increased urinary taurine OMIM:114200
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Respiratory paralysis, Urinary retention, Muscle weakness, Elevate... OMIM:176000
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Cerebral Creatine Deficiency Syndrome 3
Gowers sign, Failure to thrive, Organic aciduria OMIM:612718
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Short stature ORPHA:417
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria OMIM:606528
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Galactosemia I
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:230400
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Saccharopinuria
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... ORPHA:3124
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:609560
Cednik Syndrome
Poor head control, Proteinuria, Short stature, Nephrotic syndrome, Pachygyria, Polymicrogyria ORPHA:66631
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated circulating asp... OMIM:615158
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Glutamate Formiminotransferase Deficiency
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... OMIM:229100
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism ORPHA:2795
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, ... OMIM:613404
Lessel-Kubisch Syndrome
Renal insufficiency, Short stature, Sparse pubic hair, Renal hypoplasia, Premature graying of hair OMIM:618681
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, External ophthalmoplegia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to ... OMIM:612075
Ulna Metaphyseal Dysplasia Syndrome
Short stature, Nephrolithiasis ORPHA:1837
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... OMIM:278300
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... ORPHA:447
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Carnosinemia
Carnosinuria OMIM:212200
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia OMIM:238750
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Short stature, Elevated alkaline phosphatase of bone origin, Increased circula... ORPHA:157215
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Hypocalcemia, Autosomal Dominant 1
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... OMIM:601198
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... OMIM:120330
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis OMIM:617219
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... OMIM:615993
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, External ophthalmoplegia, Abnormal circulating ... ORPHA:225
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Cog7-Cdg
Elevated hepatic transaminase, Small for gestational age, Abnormality of the kidney, Elevated cir... ORPHA:79333
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal muscl... OMIM:620138
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria OMIM:238700
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Purpura ORPHA:375
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Wound Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Urinary retention, Mus... ORPHA:178475
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... OMIM:231900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... OMIM:246450
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... OMIM:300554
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... ORPHA:79093
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Ectopic kidney, Sparse eyebrow, Abnormal hair... ORPHA:634
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... OMIM:615605
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Cutis marmorata, Skin ulcer, H... ORPHA:91138
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Short stature, Small for gestational age, Urolithiasis, Hyperur... OMIM:300661
Autosomal Recessive Spastic Paraplegia Type 9B
Short stature, Growth delay, Pollakisuria, Urinary retention, Muscle weakness ORPHA:447760
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Homocarnosinosis
Carnosinuria OMIM:236130
Botulism
Muscle flaccidity, Diaphragmatic paralysis, Urinary retention, Diaphragmatic weakness ORPHA:1267
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Argininosuccinic Aciduria
Abnormal hair quantity, Short stature, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, A... ORPHA:23
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Iatrogenic Botulism
Diaphragmatic paralysis, Urinary retention, Muscle weakness ORPHA:254509
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Phenylketonuria
Aminoaciduria ORPHA:716
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... OMIM:272300
Foodborne Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Urinary retention, Mus... ORPHA:228371
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur... ORPHA:1933
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ... ORPHA:79404
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Alopecia, Dorsocervical fat pad, Proximal muscle weak... ORPHA:189427
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Positive ferric chloride test OMIM:250900
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Intellectual Developmental Disorder, Autosomal Dominant 54
Poor head control, Short stature, Small for gestational age, Thin nail, Growth delay, Urinary ret... OMIM:617799
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growt... OMIM:232200
Lesch-Nyhan Syndrome
Poor head control, Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia OMIM:300322
Adrenomyeloneuropathy
Urinary incontinence, Frontal balding, Abnormal circulating fatty-acid concentration, Fine hair, ... ORPHA:139399
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, Elevated circul... OMIM:614376
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Respiratory insufficiency du... ORPHA:18
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614034
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Sparse eyelashes, Proteinuria, Short stature, Sparse eyebrow, Hypoplastic toen... OMIM:616901
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Proximal muscle weakness in upper... ORPHA:99845
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Transaldolase Deficiency
Abnormality of the kidney, Telangiectasia, Abnormal circulating glutamine concentration, Increase... ORPHA:101028
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Short stature, Nephrolithiasis OMIM:620023
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Renal insufficiency, Jaundice, Increased body weight, Increased to... ORPHA:890
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Hyperhomocystinemia, Failure to th... OMIM:309541
Glutathionuria
Gray matter heterotopia, Urinary incontinence, Reduced gamma-glutamyltransferase level, Glutathio... OMIM:231950
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Pachygyria, Lissencephaly, Nephrolithiasis OMIM:619827
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic k... ORPHA:97362
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... OMIM:268200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Hirsutism, Nephrolithiasis, Obesity, Facial erythema, Hypokalemia, Abdominal ... OMIM:219090
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Flotch Syndrome
Abnormal eyelash morphology, Sparse eyelashes, Nephrolithiasis, Abnormality of the nail ORPHA:2045
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Inhalational Botulism
Urinary retention, Muscle weakness ORPHA:254504
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Tyrosinemia Type 1
Acute hepatic failure, Generalized aminoaciduria ORPHA:882
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipide... ORPHA:369
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Galloway-Mowat Syndrome 6
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss ORPHA:2126
Dermotrichic Syndrome
Hyperconvex toenail, Aminoaciduria, Nail dystrophy, Proportionate short stature ORPHA:99688
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level OMIM:266130
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Nephrolit... ORPHA:352447
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Muscle we... OMIM:160010
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Distal muscle weakness, Elevated circulating creatine kinase concentration OMIM:620235
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Familial Reactive Perforating Collagenosis
Chronic kidney disease, Abnormal fingernail morphology, Dermatological manifestations of systemic... ORPHA:79147
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice ORPHA:33574
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Postnatal growth re... ORPHA:391417
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency, Bulbar palsy, Cutis laxa OMIM:105120
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyria, Ster... OMIM:617731
Myasthenic Syndrome, Congenital, 22
Short stature, Proximal muscle weakness, Muscle weakness, Cystinuria OMIM:616224
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... ORPHA:91547
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Un... ORPHA:90324
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... ORPHA:79101
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Cog5-Cdg
Elevated hepatic transaminase, Neurogenic bladder, Short stature, Urinary incontinence, Premature... ORPHA:263487
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Decreased methionine synthase activity, Hyperhomocystinemia, Failure to thrive... OMIM:250940
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia ORPHA:664
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Oculomotor nerve palsy ORPHA:69077
Nephronophthisis
Renal insufficiency ORPHA:655
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... OMIM:613388
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Generalized mus... ORPHA:436271
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Elevat... OMIM:239000
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Parkes Weber Syndrome
Prominent superficial blood vessels, Skin ulcer, Nephrotic syndrome, Abnormality of the urinary s... ORPHA:90307
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Postnatal growth retardation, Cutis laxa, Intrauterine growth retardat... OMIM:616603
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Portal hypertension, Jaundice, Urina... ORPHA:79124
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Decreased succinic semialdehyde dehydrogenase level, Incr... OMIM:271980
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:488594
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness ORPHA:3129
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Ectodermal dysplasia, Aminoaciduria, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath... OMIM:231680
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Focal... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency, Muscle weakness OMIM:255110
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... ORPHA:2088
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... OMIM:277400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failure to thrive OMIM:604273
Glycine Encephalopathy 1
Hyperglycinemia, Hyperglycinuria OMIM:605899
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Renal insufficiency, Intrauterine growth retardation, Micropenis, ... OMIM:613861
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature, Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... OMIM:236270
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ... OMIM:612073
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Short stature, Increased urinary O-linked sialo... ORPHA:812
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Failure to thrive, Cutis marmorata, Aciduria, Calci... ORPHA:416
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Glycogen Storage Disease Due To Aldolase A Deficiency
Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Growth delay, Elevated c... ORPHA:57
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... OMIM:617730
Lysinuric Protein Intolerance
Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin concentration, St... OMIM:222700
Dyschondrosteosis-Nephritis Syndrome
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... ORPHA:1765
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... ORPHA:79473
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Psoriasiform lesion, Hypercalcemia, Exercise-induced myoglobinuria... ORPHA:284426
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Short stature ORPHA:1192
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Failure to thrive, Hypercalcemia, Sparse axillary hair, Decrea... ORPHA:95409
Glycogen Storage Disease Ixd
Distal muscle weakness, Elevated circulating creatine kinase concentration, Exercise-induced myog... OMIM:300559
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... OMIM:620366
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Multiple Mitochondrial Dysfunctions Syndrome 3
Generalized muscle weakness, Hyperglycinemia, Intrauterine growth retardation, Beta-aminoisobutyr... OMIM:615330
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia ORPHA:254857
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Granulomatous Slack Skin
Redundant skin, Hypercalcemia, Erythema, Cutis laxa, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... ORPHA:93552
2,4-Dienoyl-Coa Reductase Deficiency
Poor head control, Ophthalmoplegia, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reductase activ... OMIM:616034
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur... OMIM:229600
Acquired Ichthyosis
Renal insufficiency, Erythema, Dry skin ORPHA:454
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Hypoglycemia OMIM:608688
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Argininosuccinic Aciduria
Dry hair, Brittle hair, Failure to thrive, Elevated circulating aspartate aminotransferase concen... OMIM:207900
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria, Abnormal hair morphology ORPHA:414
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... OMIM:274150
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Short stature, Sparse eyebrow, Early bal... ORPHA:2067
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Dry ... OMIM:617671
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... OMIM:203800
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency OMIM:256150
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Familial Expansile Osteolysis
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration OMIM:174810
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Ophthalmoparesi... OMIM:220110
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Stormorken Syndrome
Short stature, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Hema... OMIM:185070
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss ORPHA:90060
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Periventricular heterotopia, Meth... OMIM:614105
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... OMIM:222748
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Dry skin, Failure to thrive, Nephrotic range protei... ORPHA:300536
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Marcus-Gunn Syndrome
Postnatal growth retardation, Nephrolithiasis ORPHA:91412
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Elevated circulating creatine kinase conce... ORPHA:98895
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... ORPHA:324525
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Growth delay, Nephrotic syndr... OMIM:619428
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Increased u... ORPHA:348
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy, Skin ulcer ORPHA:834
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Hypouricemia, Neck muscle weakness, Muscle weakness ORPHA:1187
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Patent ductus arteriosus, Hematuria, Hypoalbuminemia, Decreased liver ... OMIM:617021
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive OMIM:250620
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... ORPHA:251004
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Ureteral duplication, Renal insufficiency, Elevated circulating cr... OMIM:608836
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Leber Congenital Amaurosis 1
Growth delay, Hyperthreoninuria, Hyperthreoninemia OMIM:204000
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Subcutaneous hemorrhage OMIM:603585
Glanzmann Thrombasthenia
Spontaneous hematomas, Macroscopic hematuria, Ecchymosis, Bruising susceptibility, Purpura ORPHA:849
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failure to thrive, ... OMIM:238970
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Alopecia, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyp... OMIM:210210
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Bruising susceptibi... ORPHA:182050
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness, Functional abnormality of the bladder, Smal... OMIM:300076
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ... OMIM:605711
Bohring-Opitz Syndrome
Short stature, Synophrys, Urinary retention, Severe failure to thrive, Intrauterine growth retard... ORPHA:97297
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
D-Glyceric Aciduria
Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia... OMIM:220120
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia, Muscle weakness ORPHA:526
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Abnormality of subcutaneous fat tissue, Small for ge... ORPHA:79325
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hypertriglyceridemia, P... ORPHA:79259
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Acute Transverse Myelitis
Decreased circulating copper concentration, Urinary incontinence, Upper limb muscle weakness, Uri... ORPHA:139417
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Aminoaciduria, Small nail, Failure to thrive, Polymicrogyria OMIM:614520
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Jaundice, Hepatitis, Hematuria, Muscle weakness ORPHA:549
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pure Mitochondrial Myopathy
Progressive external ophthalmoplegia, Distal muscle weakness, Neck flexor weakness, Recurrent myo... ORPHA:254854
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Prematurel... OMIM:610965
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Lamellar Ichthyosis
Renal insufficiency, Short stature, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality o... ORPHA:313
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Neurogenic bladder, Renal ins... ORPHA:191
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Short stature, Small for gestational age, Minimal change glomerul... ORPHA:1830
Ruvalcaba Syndrome
Abnormal localization of kidney, Hematuria, Delayed puberty, Intrauterine growth retardation, Gen... ORPHA:3121
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage... OMIM:618348
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Proteinuria, Punctate vasculitis skin lesions, Telangiectasia, Hem... OMIM:192315
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Patent ductus ... OMIM:614857
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hereditary Fructose Intolerance
Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic kidney disease... ORPHA:469
Leigh Syndrome
Complex organic aciduria, Frontal hirsutism, Alopecia, Ophthalmoplegia, Renal tubular dysfunction... ORPHA:506
Senior-Loken Syndrome
Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:228305
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Bruising susceptibility, Hyperuricemia ORPHA:35909
Giant Cell Arteritis
Alopecia, Renal insufficiency, Skin ulcer, Weight loss, Hematuria, Ophthalmoparesis, Hepatic fail... ORPHA:397
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Limb-girdle muscle weakn... ORPHA:352479
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Abnormal fingernail morphology, Erythema, Broad nail, Skin ul... ORPHA:1334
Camurati-Engelmann Disease
Facial palsy, Cachexia, Abnormal subcutaneous fat tissue distribution, Urinary retention, Delayed... ORPHA:1328
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Short stature OMIM:249270
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Proteinuria, Large for gestational age, Abnormal circulating fatty... ORPHA:263455
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Angioedema, Erythema, Skin ulcer, Hematuria, Ur... ORPHA:761
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Recurrent urinary tract infections, Urinary retention, Muscle weakness ORPHA:99027
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoplastic toenails ORPHA:2158
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia... OMIM:603471
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Elevated c... OMIM:608779
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Simplified gyral pattern, Stage 5 chronic kidney diseas... OMIM:619609
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Hyperprolinemia, Neo... OMIM:619003
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria, Hypoplastic toenails OMIM:235830
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... OMIM:606812
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Bulbar palsy, Poor head control, Small for gestational age, Elevated circulating creatine kinase ... OMIM:619055
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Optic nerve hypoplasia OMIM:620157
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Hereditary Orotic Aciduria
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Abn... ORPHA:30
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Bardet-Biedl Syndrome 19
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hydronephrosis OMIM:615996
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Petechiae, Chronic kidney... ORPHA:340
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... OMIM:605850
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Prematurely aged appearance, Redundant skin, Abnormality of the upper uri... ORPHA:1807
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral me... ORPHA:2377
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Short stature, Thick hair, Large for gestational age, Patent ductus ... ORPHA:363705
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Musculocontractural Ehlers-Danlos Syndrome
Redundant skin, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Muscle ... ORPHA:2953
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Functional abnormality of the... ORPHA:223
Mucopolysaccharidosis, Type X
Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Erythema... ORPHA:488
Acute Promyelocytic Leukemia
Weight loss, Hematuria, Muscle weakness, Ecchymosis, Bruising susceptibility, Petechiae, Purpura ORPHA:520
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Muscle weakness, Exercise-induced myoglobinuria OMIM:300653
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Weight loss, Pallor, Hyperuricemia ORPHA:134
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Increased urinary O... OMIM:256550
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, Weight loss, Hematuria, Tubulo... ORPHA:183
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Growth delay, Hyperammonemia ORPHA:289916
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime... OMIM:258900
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Prominent veins on trunk, Weight loss ORPHA:97289
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Short st... ORPHA:1667
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... ORPHA:79327
Nephronophthisis 16
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... OMIM:615382
Propionic Acidemia
Short stature, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hyperg... OMIM:606054
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Short stature, Skin ulcer, Fine hair, Ex... ORPHA:2500
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Angioedema, Hematuria ORPHA:36412
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ... OMIM:619644
Jeune Syndrome
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis ORPHA:474
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Ketonuria, Jaundice, Hyperammonemia, Weight loss, 3-Methylglutaric... ORPHA:20
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Aminoaciduria, Polycystic kidney dysplasia, Elevated circulating long chain fatty acid ... OMIM:214110
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Patent ductus arterio... ORPHA:86818
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... ORPHA:6
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Elevated circulating creatinine concentration, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Recurrent urinary tract infections, Renal insufficiency, Proteinur... OMIM:619487
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Cutis marmorata, Erythema, Oliguria, Skin ulcer, Hematuria, ... ORPHA:727
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Short stature, Growth delay, Decreased serum creatinine, Intrauterine growth r... OMIM:617744
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Leukonychia Totalis
Abnormal eyelash morphology, Abnormal toenail morphology, Abnormal fingernail morphology, Nephrol... ORPHA:2387
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g... OMIM:232240
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Skin ulcer, Urinary urgency, Hematuria, Urina... ORPHA:556
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Abdominal wall muscle weakness, Generalized aminoaciduria, Growth delay, Elevated circulating alk... OMIM:264700
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Progres... OMIM:607426
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Elevated circulat... ORPHA:94093
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Addison Disease
Hyponatremia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Decreased urinary potassium... ORPHA:85138
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Fontaine Progeroid Syndrome
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Premat... OMIM:612289
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Muscle weakness, Hyperbilirubinemia ORPHA:713
Hartnup Disease
Abnormal urinary color, Cutaneous photosensitivity, Short stature, Neutral hyperaminoaciduria ORPHA:2116
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... ORPHA:941
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Poor head control, Elevated circulating aspartate aminotransferase concentration, Intrahepatic ch... OMIM:619685
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentration, Portal hyper... OMIM:251880
Tryptophanuria With Dwarfism
Conjunctival telangiectasia, Severe short stature, Cutaneous photosensitivity, Tryptophanuria OMIM:276100
Muckle-Wells Syndrome
Renal insufficiency, Short stature, Renal amyloidosis, Elevated circulating C-reactive protein co... OMIM:191900
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Ex... ORPHA:3051
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... ORPHA:653
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... OMIM:617661
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd... OMIM:231530
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Myoglobinuria, Elevated circulating creatine kinase concentration, Pelvic girdle mus... ORPHA:119
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Spontaneous hematomas, Ecchymosis, Petechiae, Purpura ORPHA:853
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Cutis marmorata, Slow-growing hair, Progeroid facial appearance, Short stature, Spa... OMIM:300953
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Coach Syndrome 2
Elevated hepatic transaminase, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circulating alkaline ... ORPHA:330001
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Short stature, Unilateral renal agenesis, Lissencephaly ORPHA:281090
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... OMIM:259900
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Retinal telangiecta... ORPHA:774
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... OMIM:137940
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Decreased methionine synthase activity, Short stature, Small for gestatio... OMIM:277380
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephritis, Nephrolithiasis OMIM:217090
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Elevated alkaline phosphatase of bone origin, Postnatal growth retardation, Genera... ORPHA:289157
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... ORPHA:320
Hemophilia B
Hematuria, Poor wound healing ORPHA:98879
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... OMIM:618719
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Hypospadias, Patent ductus arteriosus, Polymicrogyria, Gray matter heterotop... OMIM:214100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis ORPHA:369929
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Limb-gir... OMIM:251900
Agel Amyloidosis
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Nail dystrophy, ... ORPHA:85448
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Jaundice, Patent ductus ar... OMIM:251290
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Growth delay, Mild prot... OMIM:619147
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Generalized muscle weakness, Hypokalemia, Hypocalci... OMIM:154020
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Nail-Patella Syndrome
Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Concave nail, H... OMIM:161200
Glycogen Storage Disease Ixb
Growth delay, Short stature, Hyperuricemia, Muscle weakness OMIM:261750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:79312
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Poor head control, Renal hypoplasia, Nephrocalcinosis, Growth delay, Am... OMIM:617913
Galloway-Mowat Syndrome
Proteinuria, Short stature, Abnormality of neuronal migration, Nephrotic syndrome, Nephropathy, P... ORPHA:2065
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Short stature, Redundant skin, Thick hair, Postnatal growth retardation, Pac... ORPHA:357074
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Synophrys, Patent ductus arteriosus, Low anterior hairline, Hirsutism, Low posterior... OMIM:617303
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Short stature, Hypocalcemia, Nephropathy, Anonychia, Generalized hirsutism ORPHA:1563
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Frontal balding ORPHA:1942
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Cutis marmorata, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to... OMIM:236200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Organic aciduria, Hyperammonemia ORPHA:35
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... OMIM:619355
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:79240
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, S... ORPHA:2963
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral renal agenesis, Post... ORPHA:90348
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria, Brittle hair, Growth delay OMIM:616084
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Papillary renal cell carcinoma, Premature... ORPHA:363618
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... ORPHA:542323
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Weight loss... ORPHA:160
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Small for gestational age, Disproportionate short-trunk short s... OMIM:242900
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Short stature, Elevated circulating creatine ... ORPHA:800
Laron Syndrome
Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Truncal obesity, Delayed ... ORPHA:633
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Erythema, ... OMIM:614748
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc... ORPHA:79303
Klippel-Trénaunay Syndrome
Hematuria, Patent ductus arteriosus ORPHA:90308
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to t... ORPHA:2089
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Gray matter heter... OMIM:243910
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Decreased ... OMIM:614922
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, ... OMIM:606721
Fabry Disease
Renal insufficiency, Proteinuria, Angiokeratoma, Angiokeratoma corporis diffusum, Urinary mulberr... OMIM:301500
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Short stature, Pachygyria, Stage 5 chronic kidney disea... OMIM:617729
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Lacticaciduria, Tubulointerstitial... OMIM:124000
Papa Syndrome
Proteinuria, Skin ulcer ORPHA:69126
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Babesiosis
Renal insufficiency, Hepatic failure, Jaundice ORPHA:108
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n... ORPHA:488627
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature, Hypertrichosis OMIM:247410
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Failure to thrive, Short stature, Argininu... ORPHA:2203
Fg Syndrome Type 1
Short stature, Hypospadias, Facial wrinkling, Frontal upsweep of hair, Slender build ORPHA:93932
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Low posterior hairline... ORPHA:2617
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Snakebite Envenomation
Hyponatremia ORPHA:449285
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Increased bloo... OMIM:617872
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Multiple Myeloma
Hypercalcemia, Generalized muscle weakness, Elevated circulating creatinine concentration, Abnorm... ORPHA:29073
Interstitial Lung And Liver Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615486
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypertriglyceridemia, Growth delay, Hyperuricemia, Hypercholestero... OMIM:306000
Congenital Alpha2-Antiplasmin Deficiency
Hematuria, Bruising susceptibility ORPHA:79
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Toenail dysplasia, Thickened glomeru... ORPHA:2614
Donnai-Barrow Syndrome
Widow's peak, Proteinuria ORPHA:2143
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... OMIM:223900
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c... ORPHA:319213
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... ORPHA:2728
Gaucher Disease Type 1
Proteinuria, Hematuria, Growth delay, Delayed puberty, Bruising susceptibility ORPHA:77259
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Sebocystomatosis
Nephrolithiasis ORPHA:841
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Facial palsy, Ophthalmoplegia, Hyperkalemia, Renal tubular epithel... ORPHA:31826
Mucoepithelial Dysplasia, Hereditary
Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial n... OMIM:158310
Spondyloenchondrodysplasia
Proteinuria, Short stature, Chronic kidney disease, Disproportionate short-trunk short stature, H... ORPHA:1855
Arthrogryposis Multiplex Congenita 5
Growth delay, Intrauterine growth retardation, Premature skin wrinkling, Medullary nephrocalcinosis OMIM:618947
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Decreased liver function OMIM:602199
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Progeroid fac... ORPHA:90321
Systemic Sclerosis
Renal insufficiency, Alopecia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevat... ORPHA:90291
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperprote... ORPHA:90041
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Telangiectasia of the skin, Prematurely ... ORPHA:100
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Aminoaciduria, Elevated hepatic iron concentration OMIM:614946
Argininemia
Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria OMIM:207800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Ohdo Syndrome
Sparse eyebrow, Proteinuria, Short stature OMIM:249620
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Short stature, Elevated circulating creati... ORPHA:2785
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature ORPHA:1307
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... OMIM:271900
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... OMIM:309000
Congenital Factor V Deficiency
Hematuria, Spontaneous hematomas, Bruising susceptibility ORPHA:326
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Alopecia, Elevated circulating aspartate aminotransferase con... OMIM:615559
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... OMIM:201475
Alkaptonuria
Aminoaciduria, Nephrolithiasis, Abnormality of the nail ORPHA:56
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... ORPHA:35706
Bruck Syndrome 2
Hydroxyprolinuria, Short stature OMIM:609220
Kanzaki Disease
Telangiectasia of the oral mucosa, Distal muscle weakness, Increased urinary O-linked sialopeptid... OMIM:609242
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Fabry Disease
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Angiokeratoma, Tel... ORPHA:324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:264580
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ... OMIM:277410
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... ORPHA:48435
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Low anterior hairl... OMIM:601358
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Short stature, Failure to thrive in infancy, Abn... ORPHA:1340
Opitz-Kaveggia Syndrome
Hypospadias, Short stature, Facial wrinkling, Fine hair, Gray matter heterotopia, Frontal upsweep... OMIM:305450
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... ORPHA:33001
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature ORPHA:2715
Short Syndrome
Prominent superficial veins, Small for gestational age, Birth length less than 3rd percentile, In... OMIM:269880
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Zimmermann-Laband Syndrome 1
Thick eyebrow, Thick hair, Highly arched eyebrow, Synophrys, Long penis, Low anterior hairline, N... OMIM:135500
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Pachygyria, Cutis laxa, Excessive wrin... OMIM:219200
Spastic Paraplegia 89, Autosomal Recessive
Intrauterine growth retardation, Functional abnormality of the bladder OMIM:620379
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Cyanosis, Abnormal circulating calcium concentration, Weight loss, Hemat... ORPHA:60025
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Wiedemann-Rautenstrauch Syndrome
Absent eyebrow, Alopecia, Hypospadias, Prematurely aged appearance, Short stature, Absent eyelash... OMIM:264090
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Prematurely aged... OMIM:133540
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Short stature, Elevated cir... OMIM:619743
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Erythema, Hepatitis, Hematuria, Purpura ORPHA:728
Rhyns Syndrome
Total ophthalmoplegia, Renal insufficiency, Short stature, Chronic kidney disease, Nephronophthisis OMIM:602152
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... OMIM:609057
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:617053
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... OMIM:614732
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia, Decreas... OMIM:608104
Osteogenesis Imperfecta, Type X
Rhizomelia, Short stature, Nephrolithiasis OMIM:613848
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Optic nerve hypoplasia OMIM:620155
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Urinary retention OMIM:600145
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... ORPHA:36234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Decreased adipose tissue around neck, Brittle hair, Alopecia, Proger... OMIM:608612
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3... ORPHA:445038
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hyperuricemia ORPHA:364
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Elev... OMIM:276700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia ORPHA:90791
Goodpasture Syndrome
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea... OMIM:233450
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:27
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Angioedema, Erythema, ... ORPHA:139402
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Moderate Hemophilia A
Hematuria, Spontaneous hematomas, Subcutaneous hemorrhage ORPHA:169805
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hypertriglyceridemia, Nephrol... OMIM:608594
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Mitochondrial Complex I Deficiency, Nuclear Type 29
Proximal muscle weakness, Stage 5 chronic kidney disease, Lacticaciduria, Hyperalaninemia, Failur... OMIM:618250
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Exercise-induced my... OMIM:607155
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Failure to thrive, Telangiectasia of the skin, Short statu... ORPHA:910
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... ORPHA:230
Wiedemann-Rautenstrauch Syndrome
Synophrys, Wide penis, Sparse hair, Vesicoureteral reflux, Dilatation of renal calices, Hypospadi... ORPHA:3455
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Proteinuria, Abnormal subcutaneous fat tissue distribution, Renal ... OMIM:212065
Holocarboxylase Synthetase Deficiency
Alopecia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria ORPHA:79242
Fanconi Anemia, Complementation Group O
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis OMIM:613390
Thanatophoric Dysplasia Type 1
Redundant skin, Abnormality of the kidney, Patent ductus arteriosus, Excessive wrinkled skin, Gra... ORPHA:1860
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... OMIM:251120
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Hirsutism, Obesity ORPHA:77296
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Muscle weakness ORPHA:371
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Hypoglycemia ORPHA:90790
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hypertriglyceridemia, Elevate... OMIM:269700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Autosomal Recessive Cutis Laxa Type 2A
Thick hair, Progeroid facial appearance, Postnatal growth retardation, Excessive wrinkled skin, I... ORPHA:357058
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Muscle weakness, Glycosuria OMIM:618857
Myopathy With Lactic Acidosis, Hereditary
Distal muscle weakness, Elevated circulating creatine kinase concentration, Ophthalmoparesis, Myo... OMIM:255125
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Alopecia, Hypospadias, Lack of facial subcutaneous fat, Progeroid ... ORPHA:2959
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Q Fever
Elevated hepatic transaminase, Hepatitis, Weight loss, Hematuria, Muscle weakness, Purpura ORPHA:781
Geroderma Osteodysplasticum
Severe short stature, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cuti... OMIM:231070
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Elevated gamma-glutamyltransferase l... ORPHA:64
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... OMIM:618885
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Small for gestation... OMIM:251300
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Cutaneous photosensitivity ORPHA:536
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Telangiectasia, Chordee, Hypoplastic nipples, Mi... OMIM:300519
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Multiple Osteochondromas
Urinary retention, Short stature ORPHA:321
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Petechiae ORPHA:83313
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Amme Complex
Hematuria, Intrauterine growth retardation OMIM:300194
Bernard-Soulier Syndrome
Partially duplicated kidney, Spontaneous hematomas, Macroscopic hematuria, Bruising susceptibilit... ORPHA:274
Ogden Syndrome
Global glomerulosclerosis, Redundant neck skin, Prematurely aged appearance, Redundant skin, Faci... OMIM:300855
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Short stature, Renal hypopl... ORPHA:85321
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Progeroid facial appearance, Abnormal circulating lipid concen... ORPHA:79086
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet... ORPHA:96179
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney ORPHA:521445
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Chronic kidney disease, Obesity, Nephronophthisis, Hepatic failure OMIM:615630
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Facial palsy, Elevated circulating creatine kinase conce... ORPHA:206549
Severe Hemophilia A
Bruising susceptibility, Poor wound healing, Macroscopic hematuria ORPHA:169802
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance, Small for g... OMIM:608154
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Renal insufficiency, Dry hair, Proteinuria, Prematurely aged... OMIM:216400
Isovaleric Acidemia
Hyperglycinuria OMIM:243500
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Short stature, Small for gestational age, Progeroid facial appearance, Intrauterine growth retard... ORPHA:50811
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... ORPHA:84081
Sickle Cell Disease
Hematuria, Renal insufficiency, Jaundice OMIM:603903
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Meningococcal Meningitis
Renal insufficiency, Petechiae, Elevated circulating C-reactive protein concentration, Purpura ORPHA:33475
Alg12-Cdg
Hyponatremia, Retinal detachment, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Alopecia, Poor wound healing, Phimosis, Urinary bladder inflammati... ORPHA:99921
Werner Syndrome
Renal neoplasm, Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Short... ORPHA:902
Robinow Syndrome, Autosomal Recessive 1
Short stature, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Small nail, Nail dysplasia, Mic... OMIM:268310
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Ele... OMIM:616878
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Sarcoidosis
Renal insufficiency, Alopecia, Hypercalcemia, Portal hypertension, Facial palsy, Proximal muscle ... ORPHA:797
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Jaundice, Chronic... OMIM:208500
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... ORPHA:69076
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Lower limb muscle weakn... ORPHA:395
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Obesity OMIM:615986
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Severe postnatal growth retar... ORPHA:440713
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Oliguria, Skin ulcer, Muscle weakness ORPHA:220393
Beckwith-Wiedemann Syndrome
Ureteral duplication, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Large... ORPHA:116
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Autoerythrocyte Sensitization Syndrome
Hematuria, Ecchymosis, Bruising susceptibility ORPHA:324636
Cranioectodermal Dysplasia 3
Short stature, Short nail, Rhizomelia, Stage 5 chronic kidney disease, Broad nail, Cutis laxa, Fi... OMIM:614099
Infant Botulism
Hyponatremia ORPHA:178478
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... ORPHA:107
Melas
Progressive external ophthalmoplegia, Proteinuria, Short stature, Erythema, Focal segmental glome... ORPHA:550
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hyperammonemia, Growth delay, Fa... OMIM:615453
Rift Valley Fever
Elevated hepatic transaminase, Jaundice, Hepatitis, Hematuria, Muscle weakness ORPHA:319251
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalcemia OMIM:602080
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Cyanosis, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Congenital Factor Ii Deficiency
Microscopic hematuria ORPHA:325
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Hyperuricemia ORPHA:543
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Excessive wrinkled skin, Bladder diverticulum, Palmoplantar cutis laxa, Bruis... OMIM:225400
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... OMIM:210200
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Patent ductus arteriosus, Nephrotic ... ORPHA:505248
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... OMIM:140350
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Rhizomelia, Obesity OMIM:618821
Refsum Disease
Renal insufficiency, Dry skin, Nail dysplasia ORPHA:773
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Hypoplas... ORPHA:904
Gaucher Disease Type 3
Proteinuria, Ophthalmoplegia, Hematuria, Growth delay, Delayed puberty ORPHA:77261
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Liver Disease, Severe Congenital
Dry hair, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Hypospa... OMIM:619991
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia, Optic atrophy, Chorioretinal coloboma, Cyclopia, I... ORPHA:2162
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Pallor, Weight loss ORPHA:35858
Pearson Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Small for gestational age, Postn... ORPHA:699
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Short stature, Premature graying of hair, Excessive wrinkled skin, Nail dystro... ORPHA:3322
Juvenile Paget Disease
Short stature, Hyperuricemia ORPHA:2801
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr... ORPHA:2298
Acquired Von Willebrand Syndrome
Hematuria, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:99147
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Micropenis, Hypoplastic nipples, Sparse hair, P... OMIM:200110
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ... ORPHA:261265
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Highly arched eyebrow, Synophrys, Obesity, Growth delay... ORPHA:96147
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Cyanosis, Low plasma citrulline, Renal steatosis, Elevated circulating alanine aminotr... OMIM:261680
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Hypertriglyceridemia, Hyperuricemia, Prominent veins on trunk ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy... OMIM:610505
Calciphylaxis
Hyperphosphatemia, Cutis marmorata, Stage 5 chronic kidney disease, Skin ulcer ORPHA:280062
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Cutis marmorata, Ectopic kidney, Curly eyelashes, Highly arched eyebrow... OMIM:122470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Gray matter heterotopia, Tubular luminal dilatation, Renal corticomedullary ... OMIM:219730
Congenital Factor X Deficiency
Hematuria, Spontaneous hematomas, Bruising susceptibility ORPHA:328
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterior hairline, Hypertric... OMIM:209885
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Proger... OMIM:619127
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Lack of skin elasticity, Nephrocalcinosis, Excessive wrinkled skin, B... ORPHA:758
Joubert Syndrome 3
Highly arched eyebrow, Frontal polymicrogyria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... ORPHA:79282
Stuve-Wiedemann Syndrome 1
Sparse hair, Premature skin wrinkling, Short stature OMIM:601559
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concentration, Jaund... ORPHA:90051
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Hypopigmentation of hair, Albinism, Ecchymosis, Bruising susceptibility OMIM:203300
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Failure to thrive in infancy, Hemoly... OMIM:611209
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal toenail morphology, Prematurely aged appearance, Short stature, Low posterior hairline ORPHA:1387
Distal Deletion 10Q
Failure to thrive, Short stature, Postnatal growth retardation, Hypoplastic toenails, Widow's pea... ORPHA:96148
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Abnormality of neuronal migration, Highly arched eyebrow ORPHA:2318
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Short stature, Pilomatrixoma, Patent ductus arte... ORPHA:353281
Legius Syndrome
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis, Short stature ORPHA:137605
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Mult... OMIM:263200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia ORPHA:293978
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Highly arched eyebrow, Supe... ORPHA:261494
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Br... ORPHA:2750
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Highly arched e... ORPHA:1454
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Renal insufficiency, Redundant neck skin, Hypospadias, Short statu... ORPHA:397715
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Trichiasis, Renal tubular epit... ORPHA:95455
Schinzel-Giedion Syndrome
Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Hypoplasminogenemia
Decreased level of plasminogen, Nephrolithiasis ORPHA:722
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Polymicrogyria, Highly arched eyebrow ORPHA:220497
Cranioectodermal Dysplasia 4
Short stature, Stage 5 chronic kidney disease, Onychogryposis, Cutis laxa OMIM:614378
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
Familial Dysautonomia
Hyponatremia, Optic atrophy ORPHA:1764
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fin... ORPHA:920
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... OMIM:251100
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
De Barsy Syndrome
Short stature, Progeroid facial appearance, Postnatal growth retardation, Patent ductus arteriosu... ORPHA:2962
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis OMIM:617159
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Decre... OMIM:251110
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Failure to thrive, Redundant skin, Lack of skin elasticity, Excessiv... OMIM:612940
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:311250
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
X-Linked Intellectual Disability, Armfield Type
Short stature, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a... ORPHA:423
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Obesity, Hypercholesterolemia, Micropenis OMIM:619471
Osteogenesis Imperfecta
Short stature, Rhizomelia, Small for gestational age, Hypercalciuria, Nephrolithiasis, Cutis laxa... ORPHA:666
Cystic Fibrosis
Elevated hepatic transaminase, Decreased body mass index, Failure to thrive, Nephrolithiasis ORPHA:586
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Intraut... OMIM:614438
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Adenohypophysitis
Hyponatremia ORPHA:95512
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic... OMIM:181270
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Highly arched eyebrow... ORPHA:353277
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Alopecia, Prematurely aged appear... ORPHA:79474
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria OMIM:620089
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... ORPHA:358
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:36426
Short Syndrome
Alopecia, Severe short stature, Weight loss, Excessive wrinkled skin, Sparse hair ORPHA:3163
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Panhypophysitis
Hyponatremia ORPHA:95513
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Severe postnatal growth retardati... ORPHA:2237
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circula... OMIM:231670
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appe... OMIM:277700
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Ungual fibroma, Hematuria, Multiple renal cysts, Renal an... ORPHA:538
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Increased circulating fe... ORPHA:167
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Vesicoureteral re... ORPHA:438213
Lead Poisoning
Decreased HDL cholesterol concentration, Distal muscle weakness, Small for gestational age, Chron... ORPHA:330015
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease OMIM:613819
Noonan Syndrome With Multiple Lentigines
Short stature, Hypospadias, Abnormal localization of kidney, Growth delay, Excessive wrinkled ski... ORPHA:500
Japanese Encephalitis
Hyponatremia ORPHA:79139
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Growth delay... ORPHA:79408
Familial Mediterranean Fever
Acute hepatic failure, Proteinuria, Erythema, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Failure to thrive, Membranoproliferative glomerulonephritis, Eleva... OMIM:619525
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... OMIM:614527
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Coach Syndrome 1
Elevated hepatic transaminase, Unilateral renal agenesis, Portal hypertension, Multiple small med... OMIM:216360
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Complement Factor I Deficiency
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis OMIM:610984
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Poor head control, Small for gestational age, Decreased LDL choles... ORPHA:404454
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Orofaciodigital Syndrome I
Alopecia, Dry hair, Proteinuria, Short stature, Abnormal cortical gyration, Gray matter heterotop... OMIM:311200
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Hardikar Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary ... OMIM:301068
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art... ORPHA:391641
Mercury Poisoning
Hypokalemia, Acute kidney injury, Generalized muscle weakness ORPHA:330021
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Progeroid facial appearance, Sparse eyebrow, ... ORPHA:75496
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Rhizomelia, Thin nail, Renal magnesium wasting, Chronic kidney dis... OMIM:218330
Gaucher Disease
Short stature, Proteinuria, Elevated circulating C-reactive protein concentration, Hepatitis, Hem... ORPHA:355
Scleromyxedema
Distal muscle weakness, Aged leonine appearance, Abnormality of the kidney, Elevated circulating ... ORPHA:167635
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Aymé-Gripp Syndrome
Sparse scalp hair, Proteinuria, Short stature, Postnatal growth retardation, Patent ductus arteri... ORPHA:1272
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... OMIM:140000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Broad eyebrow, Hypospadias, Overweight, Jaundice, Synophrys, Obesi... OMIM:619475
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Scrub Typhus
Renal insufficiency ORPHA:83317
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Portal hypertension, Patent ductus arteriosus, Stage 5 chronic kidney diseas... OMIM:208540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Short stature, Low ... OMIM:619950
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Hypercalcemia, Nephrolithiasis, Weight loss ORPHA:652
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... OMIM:619603
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Neonata... OMIM:619534
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Delayed menarche... ORPHA:740
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Ketonuria, Large for gestational age, Increased C-pe... ORPHA:79644
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Premature skin wrinkling, Failure to thrive, Progeroid facial appea... ORPHA:435628
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Renal insufficiency, Sparse eyelashes, Short stature, Rhizomelia, ... OMIM:613610
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Kawasaki Disease
Abnormality of nail color, Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Palmoplantar erythema ORPHA:2331
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Short stature, Progeroid faci... ORPHA:90153
Waldenström Macroglobulinemia
Renal insufficiency, Cutis marmorata, Urticaria, Pallor, Purpura ORPHA:33226
Crimean-Congo Hemorrhagic Fever
Increased circulating lactate dehydrogenase concentration, Proteinuria, Elevated circulating crea... ORPHA:99827
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Down Syndrome
Sparse hair, Prematurely aged appearance, Obesity, Renal hypoplasia/aplasia ORPHA:870
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Prematurely aged appearance, Short stature, Progeroid facial appearance, Ab... ORPHA:90154
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr... ORPHA:99826
Campomelia, Cumming Type
Multicystic kidney dysplasia, Multiple renal cysts, Prematurely aged appearance ORPHA:1318
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Sickle Cell Anemia
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen... ORPHA:232
Citrullinemia, Classic
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla... OMIM:215700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp... OMIM:620358
Eisenmenger Syndrome
Renal insufficiency, Cyanosis, Elevated circulating C-reactive protein concentration, Patent duct... ORPHA:97214
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... ORPHA:140952
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Jaund... ORPHA:731
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Recon Progeroid Syndrome
Short stature, Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent l... OMIM:620370
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity ORPHA:25
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia ORPHA:293987
Immunodeficiency 58
Failure to thrive, Psoriasiform lesion, Dysuria, Short stature, Cold urticaria, Scaling skin, Cut... OMIM:618131
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Sparse scalp hair, Fair hair, Short stature, Rhizomelia, Failure to thrive,... OMIM:266920
Hermansky-Pudlak Syndrome
Renal insufficiency, Hypopigmentation of hair, Weight loss, Long eyelashes, Bruising susceptibility ORPHA:79430
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, Short stature OMIM:226980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Neck flexor weakness, Elevated circulating creatine kina... ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Secondary Syringomyelia
Fatigable weakness, Bulbar palsy, Dysuria ORPHA:99857
Primary Sclerosing Cholangitis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Spider hemangioma, Por... ORPHA:171
Autosomal Recessive Spastic Paraplegia Type 20
Short stature, Dysuria, Upper limb muscle weakness, Growth delay, Hydronephrosis ORPHA:101000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Obesity, Growth delay, Moderate albuminuria, Hydronephrosis OMIM:619269
Acute Interstitial Pneumonia
Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ... ORPHA:79126
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Williams-Beuren Syndrome
Nephrocalcinosis, Premature graying of hair, Vesicoureteral reflux, Micropenis, Pelvic kidney, Me... OMIM:194050
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Short stature, Progeroid facial appearance OMIM:617763
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Hyperphosph... ORPHA:466650
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Wrinkly Skin Syndrome
Short stature, Redundant skin, Progeroid facial appearance, Short nail, Neonatal wrinkled skin of... OMIM:278250
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Short stature, Delayed puberty OMIM:208060
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Highly arched eyebrow, Conjugated hyperbili... OMIM:620305
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria, Weight loss ORPHA:35687
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... OMIM:618000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ketonuria, Lacticaciduria OMIM:619167
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... OMIM:614941
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Patent ductus arteriosus, Proteinuria, Nail dysplasia OMIM:616682
Pyomyositis
Renal insufficiency, Weight loss ORPHA:764
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Prematurely aged appearance, Concave na... ORPHA:33364
Pure Autonomic Failure
Dysuria, Urinary incontinence ORPHA:441
Scorpion Envenomation
Ketonuria, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminotra... ORPHA:466677
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease, Abnormality of hair texture ORPHA:2752
Cornelia De Lange Syndrome
Hypoplasia of penis, Synophrys, Low anterior hairline, Vesicoureteral reflux, Generalized hirsuti... ORPHA:199
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Nijmegen Breakage Syndrome
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline,... ORPHA:647
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia, Ophthalmoplegia, Progeroid facial appearance ORPHA:412057
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, Redundant skin, Prematurely aged ap... ORPHA:2658
Degcags Syndrome
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Pallor, ... OMIM:619488
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Long penis, Hypercalciuria, Ne... ORPHA:508
Primary Sjögren Syndrome
Renal insufficiency, Chronic active hepatitis, Cutis marmorata, Abnormality of the kidney, Glomer... ORPHA:289390
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Jaundice, Simplified gyral pattern, Obesity, Moderate albuminuria OMIM:614231
Serotonin Syndrome
Acute kidney injury, Hepatic failure ORPHA:43116
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Ungual fibroma, Chronic kidney disease, Stage 5 c... ORPHA:805
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Progeroid facial appearance, Cutis laxa, Growth delay, Multiple bladder diverticu... OMIM:613177
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Patent ductus arter... OMIM:267010
Alagille Syndrome 1
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Multiple small... OMIM:118450
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Severe short stature, Abnormality of subcutaneous fat tissue ORPHA:1901
Costello Syndrome
Deep-set nails, Curly hair, Renal insufficiency, Redundant neck skin, Short stature, Thin nail, C... OMIM:218040
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Ophthalmoplegia, Abnormality of the urinary system, ... ORPHA:3463
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Urinary incontinence, Muscle weakness ORPHA:447753
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Redundant skin, Prematurely aged appearance, Telangiectasia of the skin, A... ORPHA:286
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... ORPHA:2834
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... OMIM:224900
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Short stature, Proger... OMIM:614008
Au-Kline Syndrome
Supernumerary nipple, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral refl... OMIM:616580
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear... OMIM:615919
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,... ORPHA:84
Familial Osteodysplasia, Anderson Type
Hyperuricemia, Thick eyebrow ORPHA:2769
Geroderma Osteodysplastica
Growth delay, Severe short stature, Prematurely aged appearance, Redundant skin ORPHA:2078
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level OMIM:201750
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Prematurely aged appearance, Cachexia, Dry skin, Urticaria, Cutaneous photosensiti... ORPHA:220295
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... ORPHA:573278
Kid Syndrome
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Postna... ORPHA:477
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular necrosis, Hepa... ORPHA:90062
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Muscle w... ORPHA:287
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance, Short stature, Cachexia, Intrauterine growth reta... ORPHA:808
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Ophthalmoplegia, Enuresis nocturna, Pollakisuria, Neck muscle weakness, Foo... ORPHA:171629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria OMIM:601552
Branchioskeletogenital Syndrome
Ureteral stenosis, Absent nipple, Highly arched eyebrow, Synophrys, Periorbital wrinkles, Micrope... ORPHA:1299
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Stage 5 chronic kidney disease, Nephrotic ... OMIM:249100
Leptospirosis
Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases durin... ORPHA:509
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Saul-Wilson Syndrome
Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda... OMIM:618150
Premature Aging Syndrome, Penttinen Type
Sparse hair, Prominent superficial veins, Failure to thrive, Prematurely aged appearance OMIM:601812
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Glomerulonephritis, Hepatitis, Urticaria, Bruising susceptibility ORPHA:3261
Aspartylglucosaminuria
Aspartylglucosaminuria, Short stature, Angiokeratoma corporis diffusum OMIM:208400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... ORPHA:280365
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Renal hypoplasia, Abdominal obesity, Azotemia, Intrauterine growth retar... OMIM:619321
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Sho... OMIM:256040
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
African Trypanosomiasis
Alopecia, Renal insufficiency, Urinary incontinence, Jaundice, Weight loss, Muscle weakness ORPHA:3385
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Zygomycosis
External ophthalmoplegia, Renal insufficiency, Nephritis, Hepatitis ORPHA:73263
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the bladder ORPHA:228123
Cockayne Syndrome Type 2
Intrauterine growth retardation, Progeroid facial appearance ORPHA:90322
Digeorge Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Obesity,... OMIM:188400
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney ORPHA:449432
Behçet Disease
Glomerulopathy, Renal insufficiency, Weight loss ORPHA:117
Aspartylglucosaminuria
Aspartylglucosaminuria, Vascular skin abnormality ORPHA:93
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Dry skin, Growth delay, Aplasia of the sweat glands, Bruising susceptibility ORPHA:642
Atelis Syndrome 2
Hyperinsulinemia, Remnants of the hyaloid vascular system OMIM:620185
Blau Syndrome
Clear cell renal cell carcinoma, Facial palsy, Erythema, Stage 5 chronic kidney disease, Skin ulc... ORPHA:90340
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Intrauterine growth retardation, Bruising susceptibility, Pr... OMIM:616914
Hartsfield Syndrome
Hypernatremia OMIM:615465
Listeriosis
Jaundice, Acute kidney injury, Pyelonephritis ORPHA:533
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... OMIM:107480
Chromosome Xp11.3 Deletion Syndrome
Short stature, Progeroid facial appearance OMIM:300578
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Acromegaly
Abnormal fingernail morphology, Dysuria, Synophrys, Wide penis, Long penis, Abnormal toenail morp... ORPHA:963
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Short stature, Small for gestational age, Dilatation of the renal pe... ORPHA:2044
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Pudendal Neuralgia
Pollakisuria, Dysuria ORPHA:60039
Arterial Tortuosity Syndrome
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa OMIM:208050
Pmm2-Cdg
Elevated hepatic transaminase, Proteinuria, Reduced thyroxin-binding globulin, Abnormal subcutane... ORPHA:79318
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Somatomammotropinoma
Abnormal fingernail morphology, Dysuria, Synophrys, Abnormal toenail morphology, Generalized hirs... ORPHA:314769
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Short stature, Progeroid facial appearance OMIM:610651
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Prolonged neo... ORPHA:909
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Keppen-Lubinsky Syndrome
Failure to thrive, Lack of facial subcutaneous fat, Progeroid facial appearance OMIM:614098
Neuroocular Syndrome
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Diabetes mellitus, Optic atrophy ORPHA:649

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 Mocs2

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 Mocs2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. Human genetics (May 2016) Mocs2tm1(KOMP)Vlcg 27138983

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mocs2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mocs2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mocs2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mocs2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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