Gene Summary

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

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
urinary bladder obstruction Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating alkaline phosphatase level Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 2.74×10-05
small kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased mean corpuscular volume Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 1.46×10-05
enlarged spleen Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
polycystic kidney Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating HDL cholesterol level Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 1.45×10-07
increased spleen weight Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 2.29×10-24
increased kidney weight Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 3.16×10-20
abnormal kidney morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased blood urea nitrogen level Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 2.25×10-40
decreased total body fat amount Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 1.15×10-06
increased bone mineral content Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 1.09×10-05
enlarged urinary bladder Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal urinary bladder morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal spleen morphology Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased lean body mass Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 1.94×10-05
cystolithiasis Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased eosinophil cell number Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 8.21×10-05
increased circulating cholesterol level Slc3a1tm1.1(KOMP)Vlcg HOM Early adult 2.85×10-07

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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

Histopathology

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... 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
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Dibasic Amino Aciduria I
Hyperlysinuria, Ornithinuria, Argininuria, Dibasicaminoaciduria OMIM:222690
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Threoninemia
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Saccharopinuria
Elevated circulating saccharopine concentration, Histidinuria, Elevated urinary saccharopine leve... OMIM:268700
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Spastic Paraplegia 41, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency OMIM:613364
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Carnosinemia
Carnosinuria OMIM:212200
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Camptodactyly 1
Increased urinary taurine OMIM:114200
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Primary Hyperoxaluria Type 2
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Sucrase-Isomaltase Deficiency, Congenital
Nephrolithiasis OMIM:222900
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Homocarnosinosis
Carnosinuria OMIM:236130
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Hydroxykynureninuria
Elevated urinary xanthurenic acid level, Elevated urinary 3-hydroxykynurenine level OMIM:236800
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Elevated urinary formiminoglutamic acid level, Aminoaciduria OMIM:229100
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia OMIM:238750
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Hyperhomocystinemia, Homocystinuria OMIM:236250
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239500
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Urinary urgency, ... ORPHA:100985
Galactosemia Iii
Failure to thrive, Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
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
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal... ORPHA:3124
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Urinary urgency OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Hartnup Disorder
Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Inguinal her... OMIM:614376
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
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
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia OMIM:613646
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Rickets, Glycosuria, Hyperphosphaturia, Elevated circulating cr... OMIM:615605
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Renal insufficiency, Xanthinuria, Nephrolithiasis OMIM:603592
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Hypertryptophanemia
Limited elbow extension, Tryptophanuria, Camptodactyly of finger, Hypertryptophanemia, Generalize... OMIM:600627
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... OMIM:605850
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:605280
Methionine Malabsorption Syndrome
Positive ferric chloride test, Aminoaciduria OMIM:250900
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis, Megacystis OMIM:619365
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria ORPHA:664
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... ORPHA:79233
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Phenylketonuria
Osteopenia, Phenylalaninuria, Hyperphenylalaninemia, Eczematoid dermatitis ORPHA:716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Camptodactyly, Renal hypoplasia, Failure to thrive, Flexion contract... OMIM:604273
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:607152
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Vesicoureteral Reflux 8
Recurrent urinary tract infections, Vesicoureteral reflux, Duplicated collecting system OMIM:615963
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:604805
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis... OMIM:616026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Failure to thrive, Stage 5... OMIM:251000
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Nephrolithiasis, Hypoplasia of penis ORPHA:1816
Dent Disease 1
Low-molecular-weight proteinuria, Rickets, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick... ORPHA:1652
Hyperlysinemia, Type I
Argininuria, Hyperlysinemia, Ornithinuria, Hypoornithinemia, Hyperlysinuria, Homocitrullinuria, C... OMIM:238700
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias... ORPHA:411536
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Argininosuccinic Aciduria
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia ORPHA:23
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Flexion contracture, Renal dysplasia, Elevated c... OMIM:616733
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria OMIM:612075
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria ORPHA:163693
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy... OMIM:134600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Hyperuricemia, Hprt-Related
Hyperuricosuria, Nephrolithiasis, Renal insufficiency OMIM:300323
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine succinate level, Elevated urine N-acetylaspartic acid level, Increased urine alph... OMIM:618384
Hyperparathyroidism 4
Nephrolithiasis OMIM:617343
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Pr... OMIM:613404
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Methylmalonic aci... OMIM:309541
Galactosemia I
Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ... OMIM:230400
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra... ORPHA:93598
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Flexion contracture OMIM:268650
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephroc... OMIM:179800
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Failure t... OMIM:617595
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia OMIM:605899
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicit... OMIM:611555
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypercalciuria, Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting OMIM:612286
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency OMIM:613096
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminuria, Hyperglutaminemia, Alaninuria, Lac... OMIM:616299
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... OMIM:614859
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... ORPHA:100994
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:214
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De... ORPHA:3467
Sarcosinemia
Hypersarcosinemia, Hypersarcosinuria ORPHA:3129
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Hypouricemia, Renal, 2
Nephrolithiasis OMIM:612076
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... OMIM:236730
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy OMIM:278300
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Hydroxyprolinuria, Osteolysis OMIM:174810
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfun... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... ORPHA:449395
Hereditary Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter ORPHA:30
Phenylketonuria
Increased level of hippuric acid in urine, Hyperphenylalaninemia, Elevated urinary phenylpyruvic ... OMIM:261600
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Renal tubular acidosis, Failure to thrive, Nephr... OMIM:208085
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Aminoaciduria ORPHA:1933
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sagittal craniosynostosis, Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis OMIM:267200
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Distal lower limb a... OMIM:182600
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Myopathy ORPHA:2571
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Lipodystroph... OMIM:608776
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Glutathionuria
Glutathionuria, Urinary incontinence OMIM:231950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph... OMIM:162000
Oligomeganephronia
Congenital diaphragmatic hernia, Abnormal nephron morphology, Elevated circulating creatinine con... ORPHA:2260
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea... OMIM:179830
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Failure t... OMIM:232700
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Rickets, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp... ORPHA:2088
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Elevated urinary 4-hydroxybutyric aci... OMIM:271980
Flotch Syndrome
Nephrolithiasis ORPHA:2045
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Organic aciduria, Failure to thrive i... ORPHA:6
Tyrosinemia, Type Ii
Hypertyrosinemia, Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Sebocystomatosis
Nephrolithiasis ORPHA:841
Cystinosis
Rickets, Hypokalemia, Nephropathy, Failure to thrive, Proteinuria, Hypophosphatemia, Renal insuff... ORPHA:213
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Hypomethioninemia... OMIM:236270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous... OMIM:612526
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ... OMIM:607565
Myasthenic Syndrome, Congenital, 22
Cystinuria OMIM:616224
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Hyperalaninemia, Lacticaciduria ORPHA:79246
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease... ORPHA:18
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Elevated cir... ORPHA:275555
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Urinary incontinence, Urinary ur... ORPHA:444099
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Hyd... ORPHA:85285
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increased bone mineral density, Cort... OMIM:620366
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ... ORPHA:400
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:604187
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytope... OMIM:226990
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Nephrolithiasis, Cystine crystalluria, Cystinuria OMIM:606407
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Increased level of galactitol in urin... ORPHA:79237
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction OMIM:610357
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa... ORPHA:488627
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Severe Canavan Disease
Elevated urine N-acetylaspartic acid level ORPHA:314911
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali... ORPHA:139402
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re... ORPHA:183
Sulfite Oxidase Deficiency, Isolated
Decreased urinary sulfate, Elevated circulating creatine kinase concentration, Eczematoid dermati... OMIM:272300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Nephrolithiasis, Generalized amyotrophy, Weakness of facial musculature... ORPHA:352447
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc... OMIM:239000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Lead Poisoning
Cranial hyperostosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... ORPHA:330015
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,... OMIM:619802
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, P... ORPHA:37042
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Hand muscle weakness, Urinary urgency ORPHA:320355
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Chorioretinal... ORPHA:91500
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Nephrolithiasis OMIM:620023
Leber Congenital Amaurosis 1
Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... OMIM:300266
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Pancreatitis, Hypera... OMIM:603471
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Hyperuricosuria ORPHA:411543
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria... ORPHA:79101
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Senior-Loken Syndrome
Abnormality of bone mineral density, Stage 5 chronic kidney disease, Nephronophthisis, Chronic ki... ORPHA:3156
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infecti... OMIM:613095
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Inguinal hernia, Camptodactyly, Enuresis, Sagittal craniosynostosis, T... ORPHA:459061
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... OMIM:266900
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Spinocerebellar Ataxia Type 25
Facial myokymia, Urinary urgency ORPHA:101111
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic... ORPHA:107
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin... OMIM:617872
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti... ORPHA:33001
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Elbow flexion contracture, Flexion contracture, Hydroxyprolinuria, K... OMIM:609220
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Acute hepatitis, Hyperammonemia, Failure to thrive, Homocitrullinuria OMIM:238970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin... OMIM:608836
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Increased blood ur... ORPHA:251004
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300554
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis OMIM:619827
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H... OMIM:232220
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep... OMIM:607115
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Failure to thrive, Sm... OMIM:612073
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner... ORPHA:47159
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hypercalciuria, Recurrent fractures, Hyperphosphaturia, Failure to thrive, ... OMIM:239200
Netherton Syndrome
Ectopic kidney, Skin rash, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Aminoaciduria ORPHA:634
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanc... ORPHA:411629
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Pneumonia, Hematuria, Decreased glomerular filtration rate, Ac... ORPHA:340
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Abnormal circulating enzyme concentration, Elevated circula... ORPHA:35706
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Elevated circulating creatine kinase concentration OMIM:255100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hypon... OMIM:617913
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma OMIM:618272
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypocalci... OMIM:145981
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf... OMIM:182601
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Failure to thrive, Umbilical hernia, Aminoaciduria, Ketonuria OMIM:614520
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Stiff Skin Syndrome
Nephrolithiasis ORPHA:2833
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction ORPHA:306511
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Lesch-Nyhan Syndrome
Hyperuricemia, Hematuria, Gout, Renal insufficiency ORPHA:510
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Nephrolithiasis, Hypocalciuria OMIM:145980
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory inf... ORPHA:49041
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycy... OMIM:610199
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Hyperglycinemia, Arthrogryposis multiplex congenita OMIM:615330
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis ORPHA:157215
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency OMIM:615996
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Truncal obesity, Hyperuricemia, Ch... OMIM:203800
Argininosuccinic Aciduria
Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int... OMIM:207900
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Nephrotic syndrome, Eosinophilia, Failure to thrive, Hepatosplen... OMIM:618999
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary u... ORPHA:100984
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Hyperglycinuria, Seborrheic dermatitis, Organic ac... OMIM:210210
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... OMIM:264700
Methylmalonyl-Coa Epimerase Deficiency
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, ... OMIM:251120
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Molybdenum Cofactor Deficiency, Complementation Group A