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Gene: Slc3a1 MGI:1195264

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Gene Summary

Name:
solute carrier family 3, member 1
Synonyms:
NTAA,  D2H

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
small kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
polycystic kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal spleen morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased kidney weight Slc3a1tm1.1(KOMP)Vlcg HOM   Early adult 3.16×10-20
cystolithiasis Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged spleen Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal urinary bladder morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
urinary bladder obstruction Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased spleen weight Slc3a1tm1.1(KOMP)Vlcg HOM   Early adult 2.29×10-24
enlarged urinary bladder Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

16 Images

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Histopathology

Images

2 Images

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Human diseases caused by Slc3a1 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 Slc3a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria ORPHA:163693

The table below shows human diseases predicted to be associated to Slc3a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Threoninemia
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Saccharopinuria
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... OMIM:268700
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Tiglic Acidemia
Aminoaciduria OMIM:275190
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness OMIM:613364
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Carnosinemia
Carnosinuria OMIM:212200
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phenylketonuria
Aminoaciduria ORPHA:716
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Gracile Syndrome
Aminoaciduria, Increased serum pyruvate, Increased circulating ferritin concentration, Increased ... OMIM:603358
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Homocarnosinosis
Carnosinuria OMIM:236130
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Cystathioninuria
Nephrolithiasis, Cystathioninuria ORPHA:212
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary urgency, Leg muscle st... ORPHA:100985
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat... OMIM:607665
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Galactosemia Iii
Failure to thrive, Aminoaciduria, Hypergalactosemia, Galactosuria OMIM:230350
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria OMIM:238750
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria OMIM:238700
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Arthritis, Skin rash, Synovitis, Serositis, Glomerulonep... ORPHA:567544
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... OMIM:300555
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness ORPHA:488594
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... ORPHA:228302
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... OMIM:619902
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... ORPHA:3124
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... OMIM:615112
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Inguina... OMIM:614376
Xanthinuria, Type Ii
Xanthinuria, Renal insufficiency, Nephrolithiasis, Increased urinary hypoxanthine OMIM:603592
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Nephronophthisis 18
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Thickened gl... OMIM:615862
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... ORPHA:2197
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Hypertryptophanemia
Camptodactyly of finger, Generalized joint laxity, Hypertryptophanemia, Limited elbow extension, ... OMIM:600627
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:605280
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Osteopenia, Nephronophthisis, Obesity OMIM:616629
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria, Hyperhomocystinemia, Methylmalonic acidemia OMIM:613646
Hypouricemia, Renal, 1
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... OMIM:605850
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Recurrent urinary tract infections, Megacystis, Nephrolithiasis, Fetal pyelectasis OMIM:619365
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... OMIM:251000
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Xanthinuria, Hydronephrosis OMIM:278300
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:607152
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, F... OMIM:604273
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:604805
Vesicoureteral Reflux 8
Vesicoureteral reflux, Duplicated collecting system, Recurrent urinary tract infections OMIM:615963
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria OMIM:143880
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Thin bony cortex, Delayed epiphysea... OMIM:300009
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Hypoplasia of penis, Nephrolithiasis ORPHA:1816
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Large for gestational age, Ricket... OMIM:616026
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperp... ORPHA:1652
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Nephropathy, Macroscopic hematuria, Elev... ORPHA:79233
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria ORPHA:163693
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Renal tubular atrophy, Weight loss, Nephrotic syndrome, Renal inter... ORPHA:85450
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ... OMIM:618384
Fanconi Renotubular Syndrome 1
Aminoaciduria, Osteomalacia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal ... OMIM:134600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive OMIM:612075
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Renal dysplasia, Small for gestational age, Abnormal renal corticomedullary ... OMIM:616733
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... ORPHA:470
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Osteomalacia, Glycosuria, Hyp... OMIM:613388
Hyperparathyroidism 4
Nephrolithiasis OMIM:617343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Renal cyst, Gout, Nephropathy, Elevated circulating creatinine concentration, Foca... OMIM:617056
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephropathy, Giant cell hep... OMIM:613404
Preeclampsia
Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid... ORPHA:275555
Rudiger Syndrome
Ureterovesical stenosis, Flexion contracture, Micropenis OMIM:268650
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci... OMIM:619468
Primary Hyperoxaluria Type 1
Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Recurrent urinary tract in... ORPHA:93598
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hypoargininemia, Hyperglutaminemia ORPHA:23
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Renal Tubular Acidosis, Distal, 1
Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis,... OMIM:179800
Galactosemia I
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... OMIM:230400
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... OMIM:617595
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Stage 4 chronic kidney disease, Acute kidney injury, Ren... ORPHA:411536
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Failur... OMIM:612073
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Hyperhomocystinemia, Failure to thrive, Methylmalonic aciduria, Homocysti... OMIM:309541
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Fanconi-Bickel Syndrome
Osteomalacia, Glycosuria, Reduced subcutaneous adipose tissue, Hyperphosphaturia, Hypophosphatemi... OMIM:227810
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... ORPHA:93126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:228308
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness OMIM:613096
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria OMIM:605899
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... ORPHA:100994
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Hypouricemia, Renal, 2
Nephrolithiasis OMIM:612076
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Failure to thrive, Hyperalaninemia OMIM:614582
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Osteolysis, Hydroxyprolinuria OMIM:174810
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Failure ... OMIM:208085
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Alaninuria, Lacticaciduria, Hyperprolinemia, Hyperglutaminuria, Hyperg... OMIM:616299
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Sagittal craniosynostosis, Proteinuria, Hematuria OMIM:616901
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:603563
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:600363
X-Linked Immunoneurologic Disorder
Myopathy, Functional abnormality of the bladder ORPHA:2571
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, Lower ... OMIM:182600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... OMIM:263200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia OMIM:250940
2,4-Dienoyl-Coa Reductase Deficiency
Failure to thrive, Hyperlysinuria, Hyperlysinemia, Decreased plasma free carnitine OMIM:616034
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... OMIM:236730
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Alstrom Syndrome
Tubulointerstitial nephritis, Hyperuricemia, Chronic active hepatitis, Hyperostosis frontalis int... OMIM:203800
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Failure to thrive, Hypoplasia of penis, Truncal obesity ORPHA:181393
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... ORPHA:2088
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... ORPHA:2260
Sebocystomatosis
Nephrolithiasis ORPHA:841
Flotch Syndrome
Nephrolithiasis ORPHA:2045
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Cystinosis
Aminoaciduria, Hypophosphatemia, Hypokalemia, Rickets, Failure to thrive, Nephropathy, Proteinuri... ORPHA:213
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Duplicated collecting system, Joint laxity, Hydronephrosis OMIM:617093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... OMIM:162000
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:607565
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Myasthenic Syndrome, Congenital, 22
Cystinuria OMIM:616224
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Methylmalonic ... OMIM:236270
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Renal calci... OMIM:248190
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine conc... ORPHA:6
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Cystinuria, Ragged-red muscle fibers, Nephrolithiasis, Facial palsy OMIM:606407
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia, Polycystic liver disease OMIM:211890
X-Linked Intellectual Disability, Schimke Type
Knee flexion contracture, Vesicoureteral reflux, Hip contracture, Elbow flexion contracture, Ankl... ORPHA:85285
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Hsd10 Disease
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid ORPHA:391417
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness OMIM:610357
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:604187
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Hyperprolinemia, Lacticaciduria ORPHA:79246
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... ORPHA:3337
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Increased susceptibility to fractures, Hypocitraturia, Hyper... ORPHA:18
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated urinary 4-hydroxybutyric acid, Elev... OMIM:271980
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Sulfite Oxidase Deficiency, Isolated
Eczema, Elevated circulating creatine kinase concentration, Increased urinary sulfite, Decreased ... OMIM:272300
Interstitial Cystitis
Pollakisuria, Urinary urgency, Nocturia, Abnormality of the bladder, Urinary bladder inflammation... ORPHA:37202
Hypomagnesemia 3, Renal
Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infections, Hematuria,... OMIM:248250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage... OMIM:191800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... ORPHA:488627
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Weight loss, Arthritis, Skin rash, He... ORPHA:183
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... ORPHA:79237
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Hydroxypro... OMIM:239000
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... OMIM:614377
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Infectious encephalitis, Weight loss, Nephrotic syndrome, Hepatitis... ORPHA:139402
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Elevated circulating creatine kinase concentration OMIM:255100
Leber Congenital Amaurosis 1
Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Acute kidney injury, Renal insufficiency, Hyperuricosuria ORPHA:411543
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:300266
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Eczema, Abnormal blood io... ORPHA:37042
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Abnormality of bone mineral density, Chronic ki... ORPHA:3156
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Lead Poisoning
Tubulointerstitial nephritis, Small for gestational age, Skin rash, Increased LDL cholesterol con... ORPHA:330015
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Il
Ascites, Polycystic kidney dysplasia, Hepatomegaly, Hepatosplenomegaly OMIM:608776
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... OMIM:104200
Paraparetic Variant Of Guillain-Barré Syndrome
Urinary bladder sphincter dysfunction ORPHA:231445
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Ragged-red muscle fibers, Weakness of facial musculature, Myopathy, Nephr... ORPHA:352447
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... ORPHA:91500
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Nephrolithiasis OMIM:620023
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Sagittal craniosynostosis, Abnormality of the kidney, Camptodactyly... ORPHA:459061
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Uret... ORPHA:107
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Spinocerebellar Ataxia Type 25
Urinary urgency, Facial myokymia ORPHA:101111
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Pancreatitis, ... OMIM:603471
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency, Distal lower limb muscle weakness, Distal lower limb amyot... ORPHA:444099
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Recurrent fractures, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Failure to t... OMIM:239200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... ORPHA:33001
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... OMIM:609220
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Renal amyloidosis, Glomer... ORPHA:439232
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis OMIM:619827
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... OMIM:615415
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... ORPHA:411629
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Enamel hypomineralization, Glycosuria, Hyperphosphaturia, Bicarbo... ORPHA:47159
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperammonemia, Acute hepatitis, Hyperornithinemia, Homocitrullinuria OMIM:238970
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Osteopenia ORPHA:140976
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Hypokalemia, Osteopenia, Renal artery stenosis, Hyponatremia, Renal hy... OMIM:617913
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Recurrent urinary tract infections ORPHA:284400
Glucose-Galactose Malabsorption
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:35710
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Acute tubulointer... ORPHA:340
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness ORPHA:306511
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuria, Nephrolithiasis, Hypercalciuria OMIM:145980
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... OMIM:182601
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria ORPHA:157215
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Large for gestational age, Failure to thrive, Umbilical hernia OMIM:614520
Netherton Syndrome
Aminoaciduria, Skin rash, Eczema, Ectopic kidney, Erythroderma, Hydronephrosis ORPHA:634
Glutaric Acidemia Type 3
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Elevated circulating gluta... ORPHA:35706
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Increased urine alpha-ketoglutarate concentration, ... ORPHA:79101
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... ORPHA:49041
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency, Lower limb amyotrophy, Hand muscle weakness ORPHA:320355
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... OMIM:231680
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Hypophosphatemia, Sparse bone trabecula... OMIM:264700
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Stiff Skin Syndrome
Nephrolithiasis ORPHA:2833
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Polycystic kidney dysplasia, Camptodactyly, Elevate... OMIM:214110
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Hyperglycinemia, Arthrogryposis multiplex congenita OMIM:615330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Lower limb hype... ORPHA:100984
46,Xy Sex Reversal 4
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic aciduria, F... OMIM:210210
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hyperuricemia, Hematuria ORPHA:510
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Osteoarthritis, Truncal obesity ORPHA:633
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder ORPHA:71211
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Enlarged polycystic ovaries ORPHA:90301
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ... OMIM:251120
Propionic Acidemia
Hyperglycinemia, Pancreatitis, Eczema, Failure to thrive, Hyperammonemia, Increased level of hipp... OMIM:606054
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Enamel hypoplasia, Osteomalacia, Hypopho... ORPHA:289157
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased n... OMIM:137920
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Renal Fanconi syndr... ORPHA:436271
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... ORPHA:464329
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Methioninuria, Hyperhomocystinemia, Pancreatitis, Limitation of joint mobilit... OMIM:236200
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Chondrocalcinosis, Renal tubular acidosis, Hy... ORPHA:358
Hawkinsinuria
Failure to thrive, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Abnormal circ... ORPHA:2118
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia, Hypergl... ORPHA:941