Gene Summary

Name:
xanthine dehydrogenase
Synonyms:
XO,  xanthine oxidase,  Xor,  Xox1,  Xox-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
persistence of hyaloid vascular system Xdhem1(IMPC)Mbp HET Early adult 3.16×10-06
preweaning lethality, incomplete penetrance Xdhem1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitreous body morphology Xdhem1(IMPC)Mbp HET   Early adult 6.74×10-05
abnormal skin morphology Xdhem1(IMPC)Mbp HET Early adult 0.00
abnormal lung morphology Xdhem1(IMPC)Mbp HET Early adult 0.00
cataract Xdhem1(IMPC)Mbp HET   Early adult 6.49×10-05
male infertility Xdhem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Nephrolithiasis, Hypercalcemia, Renal cortical ade... OMIM:145001
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Failure to thrive, Hyper... OMIM:239199
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hyperparathyroidism 4
Parathyroid carcinoma, Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia OMIM:617343
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Proteinuria, Glomerulopathy, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Xanthinuria, Type Ii
Hypouricemia, Nephrolithiasis, Renal insufficiency OMIM:603592
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... OMIM:616963
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Parathyroid adenoma, Hy... ORPHA:99879
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... OMIM:616026
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hyperparathyroidism, Hypercalciuria, Parathyroid adenoma, Pancrea... OMIM:145980
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Hypercalcemia, Micropenis, Hypercalciuria, Cryptorchidism, Adren... OMIM:614732
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Increa... ORPHA:97289
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Blue urine, Decreased circulating T4 level, Hyperphosphatemia, E... ORPHA:94086
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Red-brown urine, ... ORPHA:228302
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemic rickets, Short stature, Parathyroid hyperplasia, Hyperparathyroid... OMIM:612089
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Elevated circulating creatinine concentration, Proteinur... ORPHA:411634
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Rhizomelia, Renal hypoplasia, Glomeru... OMIM:614376
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Hyperuricemia... OMIM:603860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Hyperuricemia, Short stature... OMIM:617056
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Tubulointerstitial nephritis, Methylmalonic acidemia, Failure to thrive, ... OMIM:251000
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Proteinur... ORPHA:567544
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... OMIM:143880
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Weight loss, Hyperuricosuria, Hypercalciuria,... ORPHA:3337
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive, Cyanosis OMIM:263000
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Decreased glomerular filtration rate, Elevated circulating creatinine conce... OMIM:242530
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... OMIM:256100
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis OMIM:616629
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Acute kidney injury, Proteinur... ORPHA:275555
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypocalcemia, Short stature, Hyperparathyroidism, Hypophosphatemia ORPHA:93160
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Intrauterine growth retardation, Tubuloin... ORPHA:255249
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Growth delay, Increased urinary taurine, Hypouricemia, Increased urinary hypoxanthin... OMIM:252160
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:228308
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Elevated circulating creatinine concentration, Small for gestati... OMIM:616733
Aniridia 3
Cataract OMIM:617142
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Increased urinary taurine, Hypouricemia, Neonatal death, Hypertaurinemia OMIM:615501
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... ORPHA:251004
Helix Syndrome
Hypokalemia, Hypohidrosis, Nephrolithiasis, Hyperparathyroidism, Polyuria, Renal insufficiency, H... OMIM:617671
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Retinitis Pigmentosa 59
Micropenis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency OMIM:613861
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Parathyroid agenesis, Hypocalcemia, Hyperphosphatemia, Hyp... ORPHA:2239
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Lesch-Nyhan Syndrome
Hyperuricemia, Hematuria, Renal insufficiency ORPHA:510
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria ORPHA:284400
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Polyuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypomagnesemia, ... OMIM:601678
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Obesity, Renal dys... OMIM:615993
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Glucose-Galactose Malabsorption
Nephrolithiasis, Hypercalcemia, Hematuria, Failure to thrive, Renal insufficiency, Hypernatremia,... ORPHA:35710
2P21 Microdeletion Syndrome
Cystinuria, Nephrolithiasis, Hypocalcemia, Growth delay, Failure to thrive, Hypogonadism ORPHA:163693
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency OMIM:617595
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... ORPHA:93126
Familial Isolated Hypoparathyroidism
Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stature, Hypoparathyroid... ORPHA:2238
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Primary hyperparathyroidism, Hyperphosphaturia, Aminoaci... OMIM:239200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Alstrom Syndrome
Recurrent pneumonia, Tubulointerstitial nephritis, Hyperuricemia, Truncal obesity, Short stature,... OMIM:203800
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubula... OMIM:606966
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency ORPHA:2123
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Macular atrophy OMIM:618220
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Parathyroid carcin... ORPHA:143
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... ORPHA:449395
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Weight loss, Hematuria ORPHA:69077
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Hypocalcemia OMIM:615361
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circul... OMIM:610755
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, F... OMIM:613845
Nail-Patella-Like Renal Disease
Proteinuria, Short stature, Glomerulopathy, Microscopic hematuria, Renal insufficiency ORPHA:2613
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Adamantinoma
Hypercalcemia ORPHA:55881
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Pancreatitis, Hyperammone... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular fil... ORPHA:488627
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... ORPHA:94059
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Te... ORPHA:99880
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Non-Functioning Paraganglioma
Paraganglioma, Hypercalcemia, Elevated urinary dopamine, Hematuria, Paraganglioma of head and nec... ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Hyperuricemia, Crystalluria, Renal insufficiency, Gout, Uri... ORPHA:411543
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypohidrosis, Hypocalcemia, Short stature, Hypoparathyroidism, Nephropathy, Renal... ORPHA:1563
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemia, Small for ges... OMIM:256300
Pendred Syndrome
Hypothyroidism, Nephropathy, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Hematuria, Proteinuria, Arthritis, Increased inflammatory response, Endocard... ORPHA:183
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Severe short stature, Hyperphosphaturia, Hypopar... OMIM:156400
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Decreased circulating parathyroid hormone level OMIM:146200
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Hypouricemia, Failure to thrive, Recurrent urinary t... OMIM:613179
Oculocerebrodental Syndrome
Short stature, Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Hyperparathyroidism, Hypercalcemia, Adrenocortical carcinom... ORPHA:913
Hypomagnesemia 3, Renal
Renal tubular acidosis, Nephrocalcinosis, Hypermagnesiuria, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Nephropathy, Deafness, And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia, Nephropathy, Renal insufficiency OMIM:256120
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Failure to thrive, Arthrogryposis multiplex congenita OMIM:232500
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnormal response to corticotr... ORPHA:189427
Cystinuria
Hyperuricemia, Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Acute kidney injury, Elevated creatine kinase after exercise, Chronic kidney disea... ORPHA:284426
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 ... OMIM:618176
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Growth delay, Secondary hyperparathyroidism, Fa... OMIM:264700
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Secondary hyperparathyroidism, Sh... ORPHA:289157
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalcemia, Hyp... OMIM:241500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Pancreatitis, Ulcerative colitis, Stage 5 chronic kidney disease, Nephrocalcinosis, ... ORPHA:79259
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Tubulointerstitial nephrit... ORPHA:139402
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental glo... OMIM:603278
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency ORPHA:3222
Oculoskeletodental Syndrome
Renal agenesis, Hypothyroidism, Hypercalcemia, Small for gestational age, Hypercalciuria, Cryptor... OMIM:618440
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal cir... ORPHA:567548
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increase... ORPHA:95409
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Addison Disease
Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Premature ovarian insufficiency, A... ORPHA:85138
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... ORPHA:37042
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma, Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalc... ORPHA:276621
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Fibronectin Glomerulopathy
Nephrotic syndrome, Proteinuria, Abnormal glomerular mesangium morphology, Glomerulopathy, Micros... ORPHA:84090
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Hypocalcemic te... ORPHA:94090
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney, Inguinal hernia, Short stature... ORPHA:459061
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hyperuricemia ORPHA:364
Nathalie Syndrome
Cataract ORPHA:2663
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Elevated urinary dopamine, Medullary thyroid carcinoma, Parathyroid a... OMIM:171400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Weight loss, Hypercalcemia, Hashimoto thyroiditis, Graves disease, Decreased circul... ORPHA:199299
Hypophosphatemic Rickets
Nephrocalcinosis, Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Hyperthyroidism, Hyperphosp... ORPHA:437
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Decreased plasma carnitine, Hyperuricemia, Increased level of hippuric... OMIM:246450
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Trichomegaly
Cataract OMIM:190330
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine, Hyperhidrosis OMIM:171420
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... OMIM:609814
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithia... ORPHA:36913
Hypophosphatasia
Short stature, Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Micropenis, Cryptorchidism, Hypocalcemia, Severe intrauterine growth retar... OMIM:241410
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, Growth delay, Hypocalcemic ... ORPHA:93324
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Iris coloboma OMIM:610202
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Decreased body weight, Elevated circulating creatin... ORPHA:340
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Lessel-Kubisch Syndrome
Renal hypoplasia, Short stature, Renal insufficiency OMIM:618681
Coats Disease
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris ORPHA:190
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Severe postnatal growth retardation, Hydronephr... ORPHA:2237
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Iris coloboma OMIM:212550
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Hypoplasia of penis, Severe intrauterine growth retardation, Short ... ORPHA:2323
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation OMIM:614292
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalce... ORPHA:405
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Chorioretinal scar, Scle... ORPHA:91500
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma, Glomerular sclerosis, Renal cell carcinoma, Elevated urinary dopamine, Hematuria, ... ORPHA:29072
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Pancreatitis, Elevated circulating creatine kinase concentration... OMIM:619386
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Exocrine pancreatic insufficiency, Nephrolithi... OMIM:137920
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hydronephrosis, Ren... OMIM:154230
Nephronophthisis
Renal insufficiency ORPHA:655
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis, Hypocalcemia, Decreased response to growth hormone stimulation test,... OMIM:606407
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... ORPHA:650
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerul... ORPHA:33001
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Hyperuricemia, D... ORPHA:77296
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Insulinoma
Hyperinsulinemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Neoplasm of the ... ORPHA:97279
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Renal insufficiency ORPHA:28
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Growth delay, Secondary hyperparathyroidism, Failure to thrive, Elevated c... OMIM:277440
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Increased blood urea nitroge... OMIM:223900
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Acute kidney injury, Hematuria, Proteinuria, Renal insufficiency ORPHA:54057
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin, Renal insufficiency ORPHA:890
Gitelman Syndrome
Renal tubular acidosis, Hypokalemia, Renal Fanconi syndrome, Decreased urinary potassium, Primary... ORPHA:358
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Ppoma
Cholelithiasis, Intestinal carcinoid, Hypercalcemia, Abnormality of the thyroid gland, Primary hy... ORPHA:97278
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Nephrolithiasis, Hypercalcemia, Thyroid C cell hyperplasia, Hype... ORPHA:653
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Vipoma
Hypokalemia, Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parath... ORPHA:97282
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... OMIM:617994
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Lead Poisoning
Renal tubular dysfunction, Small for gestational age, Tubulointerstitial nephritis, Chronic kidne... ORPHA:330015
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... OMIM:274150
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid a... OMIM:131100
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Grfoma
Cholelithiasis, Intestinal carcinoid, Palmoplantar hyperhidrosis, Hypercalcemia, Abnormality of t... ORPHA:97261
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hyperuricemia, Short stature OMIM:300322
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Short stature, Renal... OMIM:613388
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Abnormality of endocrine pancreas physiology, Hypothyroidism, Horseshoe kidney, R... ORPHA:93111
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Growth delay, Elevated circulating parathyroid hormone level OMIM:619073
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Intrauterine growth ret... ORPHA:320
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury ORPHA:673
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Xant... OMIM:232240
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Stickler Syndrome Type 2
Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Primary hyperparathyroidism OMIM:600166
Galactosemia Iv
Cataract OMIM:618881
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Hypocal... ORPHA:94089
Somatostatinoma
Hypercalcemia, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparath... ORPHA:97283
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Progressive Familial Intrahepatic Cholestasis
Short stature, Failure to thrive, Hypocalcemia ORPHA:172
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Senior-Loken Syndrome
Short stature, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Exudative Vitreoretinopathy 6
Cataract, Retinal detachment OMIM:616468
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Diabetes insipidus, Proteinuria, Cryptorchidism, Hyperaldosteronism, Proximal renal ... ORPHA:534
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Aapoaiv Amyloidosis
Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... ORPHA:439232
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:971
Pheochromocytoma
Hypercalcemia, Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine, Renal artery steno... OMIM:171300
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment OMIM:193230
Familial Visceral Myopathy
Hydroureter, Hyperparathyroidism, Vesicoureteral reflux, Megacystis ORPHA:2604
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration OMIM:611131
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Short stature, Failure to thrive,... OMIM:239000
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Polycystic ovaries, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Arima Syndrome
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... OMIM:243910
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... ORPHA:90068
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Hydronephrosis, Hypocalce... ORPHA:2785
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, S... OMIM:134600
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Juvenile Paget Disease
Short stature, Hyperuricemia ORPHA:2801
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Hereditary Fructose Intolerance
Chronic kidney disease, Growth delay, Hyperuricemia, Episodic hyperhidrosis, Renal insufficiency,... ORPHA:469
Morm Syndrome
Retinal atrophy, Cataract ORPHA:75858
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Obesity, Renal dysplasia, Precocious... ORPHA:369837
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism OMIM:618107
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly,... OMIM:120200
Muckle-Wells Syndrome
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Renal amyloidosis... OMIM:191900
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Jeune Syndrome
Short stature, Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Short stature, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Gaisböck Syndrome
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Gout, O... ORPHA:90041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Renal hypoplasia, Short stature, Chronic kidney disease OMIM:617661
Galactosemia Ii
Cataract OMIM:230200
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Intrauterine growth retardation, Proteinuria, Short sta... OMIM:301006
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Growth delay, Pancreatitis, Renal insufficiency, Hyperammonemia ORPHA:289916
Kenny-Caffey Syndrome, Type 1
Birth length less than 3rd percentile, Intrauterine growth retardation, Hypocalcemia, Proportiona... OMIM:244460
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Pneumonia, Tubulointerstitial fibrosis, Rheumatoid arthritis, Short statu... OMIM:607944
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Proteinuria, Increased blood urea nitroge... ORPHA:90321
Glucagonoma
Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma... ORPHA:97280
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Hemolytic-uremic syndrome, Maculopapular exanthema, Elev... OMIM:619644
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Cataract, Abnormal pleura morphology ORPHA:2571
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Congenital diaphragmatic hernia, Bilateral renal atrophy, Renal insufficiency, Stage... OMIM:166300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Hypocalcemia, Growth delay ORPHA:100025
Gapo Syndrome
Tubulointerstitial fibrosis, Umbilical hernia, Growth delay OMIM:230740
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypertriglyceridemia, H... OMIM:617575
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Laurence-Moon Syndrome
Obesity, Hypoplasia of penis, Short stature, Displacement of the urethral meatus, Renal insuffici... ORPHA:2377
Intermediate Uveitis
Macular scar, Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uve... ORPHA:279914
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Hyperinsulinemia, Incre... ORPHA:230
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Short stature, Hyperphosphatemia, Hypocalcemic... OMIM:612462
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Lymphedema-Hypoparathyroidism Syndrome
Short stature, Hypoparathyroidism, Nephropathy, Renal insufficiency OMIM:247410
Norrie Disease