Gene Summary

Name:
solute carrier family 41, member 3
Synonyms:
SLC41A1-L2,  1010001P06Rik

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
limb grasping Slc41a3tm1a(KOMP)Wtsi HOM Early adult 6.89×10-05
abnormal gait Slc41a3tm1a(KOMP)Wtsi HOM   Early adult 3.40×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 25% (1 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 75% (3 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 25% (1 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood vessel 0.0%
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyer's patch 0.59% (1 of 170)
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
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.

Legacy Phenotype Associated Images

View all 66 images

Human diseases caused by Slc41a3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc41a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady gait OMIM:616053
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis OMIM:304900
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... OMIM:619743
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Renal so... OMIM:612780
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, H... OMIM:618183
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Dystonia With Ringbinden
Gait disturbance, Dystonia OMIM:224550
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Orthostatic Hypotension 1
Nocturia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal i... ORPHA:93599
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia OMIM:617671
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:601678
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis ORPHA:428
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Increased circulating renin level... OMIM:263800
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cystinosis, Nephropathic
Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis... OMIM:219800
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concen... OMIM:608836
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:241200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hyperxanthinemia, Hematuria, Uric ... ORPHA:3467
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Splenomegaly, Decreased prealbumin level, Membr... ORPHA:37042
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary retention, Transie... ORPHA:79102
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Hepatomegaly, Renal insufficiency, Hyperuricemia, Hyper... ORPHA:469
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, Focal segmental glom... ORPHA:358
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Hepatomegaly, Splenomegaly, Lacticac... ORPHA:699
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia OMIM:239199
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter ORPHA:1046
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... OMIM:617303
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... OMIM:232220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, Hydr... OMIM:615287
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce... ORPHA:449395
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... OMIM:276700
Myopathy, Congenital, Progressive, With Scoliosis
Renal atrophy, Hydronephrosis OMIM:618578
Webb-Dattani Syndrome
Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder, Hypernatremia OMIM:615926
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve OMIM:100100
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Hydronephrosis, Megacystis OMIM:619362
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Fanconi Anemia, Complementation Group O
Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... OMIM:208540
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... ORPHA:2237
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Renal hypoplasia, Hydronephrosis OMIM:618494
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... ORPHA:2970
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus OMIM:612651
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
H Syndrome
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Renal insufficiency, Left ventricular hypertrophy OMIM:611209
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp... ORPHA:79403
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Nephroblastoma, Enla... OMIM:130650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Micropenis ORPHA:1926
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... ORPHA:1834
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Hype... ORPHA:79259
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux OMIM:617219
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Cardiac Valvular Dysplasia 1
Hydroureter, Hydronephrosis, Urethral diverticulum OMIM:212093
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney OMIM:602200
Kaposiform Lymphangiomatosis
Multiple renal cysts, Hepatosplenomegaly, Splenomegaly, Enlarged kidney ORPHA:464329
Bladder Exstrophy
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... ORPHA:93930
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Micropenis OMIM:619185
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hydronephrosis ORPHA:449400
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Hydronephrosis OMIM:222300
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Renal insufficiency, Ectopic kid... ORPHA:3027
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Hydronephrosis, Ab... ORPHA:79328
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Duplicated collecting system, Hydronephrosis, Decreased serum zinc ORPHA:541423
Leprechaunism
Hypokalemia, Hepatomegaly, Increased circulating renin level, Long penis, Enlarged kidney, Hyperc... ORPHA:508
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Congenital megaureter, N... ORPHA:116
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Hydronephrosis OMIM:235255
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... OMIM:252500
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter ORPHA:2437
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Micropenis, Hypospadias, Elevated circulating creatine kinase concentration, Duplic... OMIM:301056
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Hepatosplenomegaly, Abnorm... ORPHA:1655
Silver-Russell Syndrome 1
Hypospadias, Abnormality of the ureter, Nephroblastoma, Urethral valve, Congenital posterior uret... OMIM:180860
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladder, Renal insuffici... ORPHA:223
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Hepatosplenomegaly, Urinary ... OMIM:619503
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Enlarged kidney, Renal malrotation ORPHA:500095
Penile Agenesis
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Bilateral rena... ORPHA:49
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis, Hypoproteinemia ORPHA:2315
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Distal Tetrasomy 15Q
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hydronephrosis, Cardiomegaly, Micropenis OMIM:616897
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction, Recurrent urinary ... ORPHA:79404
Vacterl/Vater Association
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... ORPHA:887
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus OMIM:618454
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Koolen-De Vries Syndrome
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Vesicoureteral reflux ORPHA:96169
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve ORPHA:261290
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Trisomy 20P
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... ORPHA:261318
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, N... OMIM:608779
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal penis morphology, Abnormality of the upper urinary tract, Abno... ORPHA:2461
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Hydronephrosis... OMIM:614080
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Aredyld Syndrome
Abnormality of the ureter, Hepatomegaly, Splenomegaly ORPHA:1133
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Microphthalmia, Lenz Type
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:568
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Hepatomegaly, Hydronephrosis ORPHA:912
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Hypoplasia of the bladder, Multicy... OMIM:614527
Ogden Syndrome
Global glomerulosclerosis, Hyperbilirubinemia, Enlarged kidney, Polycystic kidney dysplasia, Card... OMIM:300855
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Ectopic kidney, Hypoalbuminemia, Hydronephrosis, Vesicoureteral reflux OMIM:235510
Kleefstra Syndrome
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ve... ORPHA:261494
Duane-Radial Ray Syndrome
Renal agenesis, Crossed fused renal ectopia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:607323
3C Syndrome
Hypospadias, Hypoplasia of penis, Hydronephrosis ORPHA:7
Branchio-Oculo-Facial Syndrome
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Feingold Syndrome Type 1
Nephritis, Abnormality of the kidney, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Hyd... ORPHA:391641
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:302960
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Visceral Myopathy 1
Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Exstrophy-Epispadias Complex
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... ORPHA:322
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Hypertriglyceridemia, Abnormal localization ... ORPHA:819
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Baller-Gerold Syndrome
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis ORPHA:1225
Micro Syndrome
Abnormal localization of kidney, Hypoplasia of penis, Hydronephrosis ORPHA:2510
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadia... OMIM:214100
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts ORPHA:2869
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis ORPHA:93260
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hepatomegaly, Hydronephrosis, Cardiomegaly OMIM:614921
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Glandular hypospadias, Urethral stricture, Mu... ORPHA:2473
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladder exstrophy, Urete... ORPHA:93929
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hydroureter, Renal dysplasia, Renal cyst, Renal hypoplas... OMIM:146510
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Ureteropelvic junction obstruction, Renal hypoplasia, Hydronephrosis OMIM:618975
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
15Q Overgrowth Syndrome
Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenosis, Hydronephrosis ORPHA:314585
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly OMIM:306955
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Mosaic Trisomy 9
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:99776
Raine Syndrome
Hydroureter, Hypophosphatemia, Hydronephrosis OMIM:259775
Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hydronephrosis OMIM:300712
Oeis Complex
Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, Bladder exstrophy, Duplicated col... OMIM:258040
Fryns Syndrome
Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... DECIPHER:81
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Hypocalcemia, Hepatomegaly, Renal tubular acidosis, Proximal renal tubular acido... ORPHA:2785
Cat Eye Syndrome
Renal agenesis, Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis OMIM:115470
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis ORPHA:2953
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis OMIM:616737
Teebi-Shaltout Syndrome
Horseshoe kidney, Ureteral stenosis, Hydronephrosis OMIM:272950
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Unilateral renal dysplasia, Congenital megaureter, Elevated alpha-fetoprotein, Abnormal renal col... ORPHA:280633
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Hydronephrosis, Micropenis ORPHA:96092
Baraitser-Winter Cerebrofrontofacial Syndrome
Abnormality of the upper urinary tract, Hydroureter, Hydronephrosis ORPHA:2995
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:604292
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... OMIM:312870
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypo... ORPHA:90324
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Hypospadias, Hydronephrosis, Micropenis OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Recurrent urinary tract infections, Hypoplasia of penis, Hydronephrosis ORPHA:847
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Hardikar Syndrome
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Crossed fused renal ectopia, Ureterop... ORPHA:2322
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:308050
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Hepatomegaly, Renal hypoplasia/aplasia ORPHA:52
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hydronephrosis OMIM:280000
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464311
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis OMIM:610443
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter ORPHA:2311
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Ureteral stenosis, Hematuria, Proteinuria,... ORPHA:900
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Hydronephrosis ORPHA:90652
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis ORPHA:2092
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Renal agene... OMIM:270400
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Male urethral meatus stenosis ORPHA:464738
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Hydronephrosis OMIM:613177
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Abnormality of the bladder, Ep... ORPHA:3339
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Dyrk1A-Related Intellectual Disability Syndrome
Micropenis, Unilateral renal agenesis, Hypospadias, Renal cyst, Hydronephrosis, Pelvic kidney ORPHA:464306
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Splenomegaly OMIM:115150
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney OMIM:618280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of bladder morphology, Vesicoureteral reflux, Hydronephrosis ORPHA:453499
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Micropenis OMIM:618653
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Cousin Syndrome
Hydronephrosis OMIM:260660
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Enuresis, Hydronephrosis ORPHA:96121
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:129900
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Hydronephrosis OMIM:619426
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoplasia of penis, Splenomegaly, Hypospadias, Hydroureter, Nephroblastoma, Ureter... ORPHA:373
Eec Syndrome
Renal hypoplasia/aplasia, Urethral atresia, Hypospadias, Hydronephrosis, Vesicoureteral reflux ORPHA:1896
Occipital Horn Syndrome
Bladder diverticulum, Ureteral obstruction, Hydronephrosis OMIM:304150
Dextrocardia
Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Recurrent urinary tract infections, Urachus fistu... OMIM:612541
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Micropenis, Polycystic kidney dysplasia, Ectopic kidney... ORPHA:96149
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Hyp... OMIM:619991
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Multic... ORPHA:818
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Enlarged ovaries, Hydronephrosis, Vesicoureteral ... ORPHA:2745
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Schinzel-Giedion Midface Retraction Syndrome
Micropenis, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis OMIM:269150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Hydronephrosis ORPHA:35687
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Trisomy 18
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:3380
Vater/Vacterl Association
Renal agenesis, Hypospadias, Renal dysplasia, Ureteropelvic junction obstruction, Ectopic kidney,... OMIM:192350
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypo... ORPHA:289
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Micropenis, Renal duplication, Hydronephrosis, Nephrocalcinosis OMIM:268310
Tarp Syndrome
Horseshoe kidney, Hydronephrosis ORPHA:2886
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Hydronephrosis, Micropenis ORPHA:264450
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Intellectual Developmental Disorder, Autosomal Dominant 42
Ureteropelvic junction obstruction, Neurogenic bladder, Hydronephrosis OMIM:616973
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
Fryns Syndrome
Renal agenesis, Hypospadias, Ureteral duplication, Renal cyst, Hydronephrosis OMIM:229850
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Hydronephrosis ORPHA:1826
Schinzel-Giedion Syndrome
Nephrolithiasis, Micropenis, Hypospadias, Abnormality of the ureter, Nephroblastoma, Renal cyst, ... ORPHA:798
Knobloch Syndrome 1
Duplicated collecting system, Renal duplication, Hydronephrosis, Bifid ureter OMIM:267750
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Renal agenesis, Hypospadias, Grade III vesicoureteral reflux, Urethral stricture, Ureter... OMIM:619522
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis ORPHA:487796
Floating-Harbor Syndrome
Renal agenesis, Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hydronephrosis, Dilatation ... ORPHA:2044
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Apert Syndrome
Hydronephrosis OMIM:101200
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hydronephrosis ORPHA:1507
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Hydronephrosis ORPHA:100077
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Right ventricular hypertrophy, Hypospadias, Hydroureter, Hydronephrosis, Dilatation of the renal ... OMIM:265380
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Recurrent urinary tract infections, Renal duplication, Hydronephrosis, Fetal pyelect... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Recurrent urinary tract infections, Renal duplication, Hydronephrosis, Fetal pyelect... ORPHA:363958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Peutz-Jeghers Syndrome
Bladder polyp, Abnormality of the ureter OMIM:175200
Chime Syndrome
Abnormality of the kidney, Hydronephrosis ORPHA:3474
Monosomy 22Q13.3
Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis OMIM:200980
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Dark urine, Hepatomegaly, Hyperbilirubinemia, Splen... OMIM:619534
Okamoto Syndrome
Splenomegaly, Ureteropelvic junction obstruction, Hydronephrosis, Unilateral renal hypoplasia, Ur... ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Abnormality of th... ORPHA:2636
Duodenal Neuroendocrine Tumor
Hydronephrosis ORPHA:100076
Facial Dysmorphism With Multiple Malformations
Hydronephrosis OMIM:227255
Schwartz-Jampel Syndrome
Nephrolithiasis, Abnormality of the urinary system, Elevated circulating creatine kinase concentr... ORPHA:800
Meckel Syndrome, Type 1
Splenomegaly, Renal agenesis, Abnormality of the ureter, Hypoplasia of the bladder, Cystic renal ... OMIM:249000
Digeorge Syndrome
Hypocalcemia, Splenomegaly, Unilateral renal agenesis, Renal dysplasia, Renal insufficiency, Hydr... OMIM:188400
Sotos Syndrome
Renal agenesis, Abnormality of the kidney, Hypospadias, Ureteral duplication, Ureteropelvic junct... ORPHA:821
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Nephrolithiasis, Vesicoureteral reflux, Hydronephrosis, Decreased serum iron ORPHA:438213
Split Cord Malformation
Hypospadias, Renal duplication, Functional abnormality of the bladder, Horseshoe kidney, Hydronep... ORPHA:573278
Charge Syndrome
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis, Micropenis ORPHA:138
Coffin-Siris Syndrome 1
Hypospadias, Hydroureter, Renal hypoplasia, Ectopic kidney, Hydronephrosis OMIM:135900
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Micropenis OMIM:218649
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephroca... OMIM:136140
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
Campomelic Dysplasia
Hypospadias, Hydronephrosis OMIM:114290
Focal Dermal Hypoplasia
Bifid ureter, Horseshoe kidney, Hydronephrosis, Ureteral duplication OMIM:305600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Nephrolithiasis, Hypospadias, Abnormality of the urinary system, Recurrent urinary tract infectio... ORPHA:353281
Johanson-Blizzard Syndrome
Hypocalcemia, Micropenis, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal f... OMIM:243800
Tetrasomy 9P
Micropenis, Recurrent urinary tract infections, Multiple renal cysts, Renal dysplasia, Horseshoe ... ORPHA:3310
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Hydronephrosis, Micropenis ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Hydronephrosis ORPHA:2273
Peters Plus Syndrome
Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Ureteral ... ORPHA:709
Charge Syndrome
Hypocalcemia, Micropenis, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hydronephrosis OMIM:214800
Rubinstein-Taybi Syndrome 1
Hypospadias, Hydronephrosis OMIM:180849
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Recurrent urinary tract infections, Dilatation of renal calices, Hypertriglyceridemi... ORPHA:3455
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal cyst, Renal hypoplasia, Hydronephrosis ORPHA:93271
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Robinow Syndrome, Autosomal Dominant 1
Renal duplication, Hydronephrosis, Micropenis OMIM:180700
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Hydronephrosis, Micropenis OMIM:147920
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Abnormality of the urinary system, Nephrocalci... ORPHA:79500
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Nephrolithiasis, Abnormality of the kidney, Abnormality of the urinary system, Recurrent urinary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Nephrolithiasis, Abnormality of the kidney, Abnormality of the urinary system, Recurrent urinary ... ORPHA:353277
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal morphology ORPHA:363700
Peters-Plus Syndrome
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis OMIM:261540
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis OMIM:236680
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormality of the ureter ORPHA:141127
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia ORPHA:480880
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... ORPHA:261537
Mowat-Wilson Syndrome
Chordee, Micropenis, Abnormality of the kidney, Hypospadias, Multicystic kidney dysplasia, Renal ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Hypospadias, Multicystic kidney dysplasia, Renal duplication, Hydronephrosis... ORPHA:261552
Viss Syndrome
Hydronephrosis, Right ventricular hypertrophy OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc41a3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc41a3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)