Gene Summary

Name:
5-hydroxytryptamine (serotonin) receptor 3A
Synonyms:
5-HT3 receptor

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
hypoalgesia Htr3aem1.1(IMPC)J HOM   Early adult 4.10×10-06 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Htr3a 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 Htr3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Myopathy, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Failure to thrive, Vesicoureteral reflux, Recurrent urinary tract infections, Neu... OMIM:191800
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
Bladder Diverticulum
Solitary bladder diverticulum, Hematuria, Dysuria, Urethral sphincter sclerosis, Urinary hesitanc... OMIM:109820
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Ochoa Syndrome
Cryptorchidism, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal i... ORPHA:2704
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... ORPHA:449395
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, R... ORPHA:228302
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Cryptorchidism, Unilateral renal atrophy, Oligospermia, Renal dysplasia, Nephriti... OMIM:314300
Adrenomyodystrophy
Primary adrenal insufficiency, Megacystis, Failure to thrive, Myopathy, Abnormality of the urinar... ORPHA:977
Complement Component C1R/C1S Deficiency
Arthralgia, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Arthralgia, Stage 5 chronic ... OMIM:613944
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Proteinuria, Renal interstitial amyloid deposits, ... ORPHA:85450
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Hyperuricemia... OMIM:603860
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Tubulointerstitial nephritis, Methylmalonic acidemia, Failure... OMIM:251000
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Spastic Paraplegia 13, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:605280
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Spastic Paraplegia 12, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:604805
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Recurrent urinary tract infections, Nephrolithiasis, Megacystis OMIM:619365
Spastic Paraplegia 19, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:607152
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Autoimmune thrombocytopenia, Urethral obstruction, Renal dysplasia, Hypertrophy... OMIM:601389
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Polyuria, Megacystis OMIM:304800
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Osteomyelitis, Failure to thrive, Recurrent urinary tract infections, Neurogenic ... OMIM:619218
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Nephrotic syndrome, Proteinuria, Colit... OMIM:617006
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Spastic Paraplegia 8, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:603563
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Multic... ORPHA:2970
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... ORPHA:100994
Spastic Paraplegia 36, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence OMIM:613096
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Nephronophthisis, Hypogona... OMIM:616629
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Failure to thrive, Cachexia, Weight loss OMIM:612075
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Hand-Foot-Genital Syndrome
Small thenar eminence, Pyelonephritis, Chordee, Micropenis, Uterus didelphys, Hypospadias, Longit... OMIM:140000
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Testicular dysgenesis OMIM:300419
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Arthralgia, Stage 5 chronic ... OMIM:161950
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Proteinur... ORPHA:567544
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Spastic Paraplegia 6, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Distal lower ... OMIM:182600
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Spastic Paraplegia 10, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:604187
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Punctate keratitis, Muscular dystrophy, Anemia, Keratitis, Urethral stricture OMIM:226670
Prune Belly Syndrome
Cryptorchidism, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Urethral valve,... OMIM:100100
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Granulomatosis With Polyangiitis
Proteinuria, Hydronephrosis, Prostatitis, Otitis media, Pancreatitis, Skin rash, Gangrene, Increa... ORPHA:900
Foix-Alajouanine Syndrome
Male sexual dysfunction, Urinary retention, Functional abnormality of the bladder, Lower limb mus... ORPHA:79093
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Proteinuria, Mesangial hypercellularity, Steroid-resistant neph... OMIM:619201
Siddiqi Syndrome
Lower limb amyotrophy, Urinary incontinence, Flexion contracture OMIM:618635
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Urinary urgency, Urinary incontinence, Distal lower limb amyot... ORPHA:444099
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Testicular atrophy, H... OMIM:222300
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Silver-Russell Syndrome 1
Abnormality of the ureter, Small for gestational age, Testicular seminoma, Congenital posterior u... OMIM:180860
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence OMIM:156310
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incon... OMIM:607565
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Peritonitis, Megacystis, Fetal megacystis OMIM:619351
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincter dysfunction, Elevated... ORPHA:306511
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Lower Urinary Tract Obstruction, Congenital
Congenital posterior urethral valve, Urinary incontinence, Vesicoureteral reflux, Urethral stenos... OMIM:618612
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence, Arthritis ORPHA:320365
Birk-Landau-Perez Syndrome
Hyperkalemia, Limb hypertonia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insuff... OMIM:617595
Spastic Paraplegia 16, X-Linked
Lower limb amyotrophy, Facial hypotonia, Lower limb muscle weakness, Urinary urgency, Urinary bla... OMIM:300266
Hemangioblastoma
Lower limb muscle weakness, Trigeminal neuralgia, Upper limb muscle weakness, Neurogenic bladder ORPHA:252054
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Tubulointers... ORPHA:139402
Lymphatic Filariasis
Nephrotic syndrome, Lymphadenitis, Hematuria, Proteinuria, Orchitis, Knee osteoarthritis, Hypereo... ORPHA:2035
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder OMIM:618248
Spastic Paraplegia 4, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Low back pain... OMIM:182601
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Diencephalic Syndrome
Decreased body weight, Long penis, Cachexia, Hyperhidrosis ORPHA:1672
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Thyrocerebrorenal Syndrome
Nephritis, Abnormality of the musculature of the limbs, Thrombocytopenia, Renal insufficiency ORPHA:3327
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Unilateral renal hypoplasia, Dysuria, Hydronephros... ORPHA:49041
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Rhabdomyolysis, Hyperlipidemia, Decreased plasma total carnitine, Elevate... ORPHA:157
Webb-Dattani Syndrome
Pituitary hypothyroidism, Cryptorchidism, Hydronephrosis, Neurogenic bladder, Hypernatremia, Decr... OMIM:615926
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria, Slender build ORPHA:505216
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Decreased res... OMIM:307200
Duplication Of Urethra
Chordee, Unilateral renal hypoplasia, Dysuria, Uterus didelphys, Recurrent urinary tract infectio... ORPHA:237
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Menorrhagia, Giant platelets, Nephritis, Neut... OMIM:153640
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Polycystic ovaries, Abnormal circulating lipid concen... OMIM:608709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Eosinophilia, Myositis, Weight loss, Hematuria, Proteinuria, Increased inflammatory re... ORPHA:183
Atypical Hemolytic Uremic Syndrome
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Majeed Syndrome
Flexion contracture, Leukocytosis, Congenital hypoplastic anemia, Proteinuria, Splenomegaly, Acne... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia OMIM:614582
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Skeletal muscle atrophy ORPHA:100988
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Amenorrhea, Polycystic ovaries, Dysuria, Menorrhagia, Abnormality of the ovary... ORPHA:2795
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Urethral diverticulum, Pyelonephritis, Recurrent urinary tract infections, V... ORPHA:90349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Listeriosis
Chills, Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Acute kidney injury, Infectious... ORPHA:533
Porphyria Variegata
Proximal muscle weakness in upper limbs, Chest pain, Abnormal circulating porphyrin concentration... ORPHA:79473
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Nail-Patella-Like Renal Disease
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:2613
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia... ORPHA:37042
Spastic Paraplegia 76, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Skeletal muscle atrophy OMIM:616907
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Familial Visceral Myopathy
Megacystis, Aplasia/Hypoplasia of the abdominal wall musculature, Hydroureter, Camptodactyly of f... ORPHA:2604
Perineural Cyst
Male sexual dysfunction, Vulvodynia, Infertility, Shoulder pain, Anal pain, Low back pain, Foot p... ORPHA:65250
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence, Foot dorsiflexor weakness OMIM:616688
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder OMIM:263570
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... ORPHA:93126
Spastic Paraplegia 48, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence OMIM:613647
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Interosseus muscle atrophy, Fiber type grouping, Neurogenic bladder, Dista... OMIM:500013
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder OMIM:613612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age, Acute kidney injury, Pr... ORPHA:275555
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy, Obesity, Urinary urge... OMIM:604360
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Constitutional symptom, Elevated circulating C-reactive... ORPHA:231111
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Episodic hyperhidrosis, Osteomyelitis OMIM:613115
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Hyperhidrosis, Type 2 muscle fiber predominance, ... OMIM:619173
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder OMIM:618527
Visceral Myopathy 1
Urinary retention, Hydronephrosis, Megacystis, Abdominal pain, Pancreatitis, Vesicoureteral reflux OMIM:155310
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger, Hypoplastic male external genitalia OMIM:247990
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Lead Poisoning
Infertility, Oligospermia, Anemia, Decreased male libido, Decreased HDL cholesterol concentration... ORPHA:330015
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Adrenal insufficiency, Urinary bladder sphincter dysfunction, Impotence, Ne... ORPHA:43
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria OMIM:617698
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Limb muscle weakness OMIM:615284
Spastic Paraplegia 85, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Generalized amyotrophy, Torticollis OMIM:619686
Alkaptonuria
Nephrolithiasis, Tendon rupture, Thickened Achilles tendon, Prostatitis, Osteoarthritis, Aminoaci... ORPHA:56
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Enuresis nocturna, Flexion contracture, Nemaline bodies, Foot dorsif... OMIM:617114
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Anemia, Abnormality of the urinary system, Vaginal stricture, Uret... ORPHA:79409
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Image Syndrome
Cryptorchidism, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Alstrom Syndrome
Recurrent pneumonia, Irregular menstruation, Hypothyroidism, Tubulointerstitial nephritis, Hyperu... OMIM:203800
Leukodystrophy, Progressive, Early Childhood-Onset
Flexion contracture, Neurogenic bladder OMIM:617762
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Agammaglobulinemia, X-Linked
Recurrent otitis media, Recurrent pneumonia, T lymphocytopenia, Infectious encephalitis, Prostati... OMIM:300755
Visceral Myopathy 2
Esophagitis, Necrotizing enterocolitis, Megacystis OMIM:619350
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Male sexual dysfunction, Lower limb muscle weakness, Urinary urgency, Urin... ORPHA:100993
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Peroneal muscle atrophy ORPHA:100989
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular filtration ra... ORPHA:488627
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Dec... ORPHA:470
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Anemia, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segme... OMIM:603278
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb amyotrophy, Detrusor sphincter dyssynergia, Bilateral cryptorchidism, Neurogenic bladd... ORPHA:466722
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence OMIM:270800
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal tendon morphology, Decreased testicular size, Ab... ORPHA:320391
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Myopathy, Microscopic hematuria, Arthralgia, Lymphocytosis ORPHA:79087
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:228308
Myh9-Related Disease
Neutrophil inclusion bodies, Proteinuria, Menorrhagia, Giant platelets, Nephritis, Nephropathy, R... ORPHA:182050
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain OMIM:600142
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Recurrent skin infections, Hematuria, Renal duplication, Hydronephr... ORPHA:79403
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Failure to thrive, Aplastic anemia, Thrombocytopenia, Urethral stricture OMIM:613989
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Limb-girdle muscular dystrophy, Acanthocytosis, Elev... ORPHA:96180
Isolated Epispadias
Bifid clitoris, Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoure... ORPHA:93928
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Spastic Paraplegia 46, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Infertility, Limb muscle weakness OMIM:614409
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Hypospadias, Megacystis, Congenital hypothyroidism, Compensated hypothyroidi... ORPHA:209905
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Bowel incontin... ORPHA:84085
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Hydronephrosis, Ankle flexion contracture, Knee flexion contracture... ORPHA:85285
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Hypohidrosis, Ureteral duplication, Abnormality of the kidney, Duplication of ren... ORPHA:2036
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Macs Syndrome
Decreased body weight, Cryptorchidism, Bronchiectasis, Hypergonadotropic hypogonadism, Urethral s... OMIM:613075
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... ORPHA:251004
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Hypoalbuminemia, Focal segment... OMIM:618349
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Thrombocytopen... OMIM:254900
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Xerostomia, Tubulointerstitial nephritis OMIM:270150
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Splenomegaly, Nephropathy, Skin rash OMIM:105200
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Hypertriglyceridemia, Renal insufficiency, Normochromic anemia, De... OMIM:245900
Lymphatic Malformation 1
Hydrocele testis, Urethral stricture OMIM:153100
Hardikar Syndrome
Hydroureter, Pyelonephritis, Hepatosplenomegaly, Cholangitis, Hydronephrosis, Bladder exstrophy, ... OMIM:301068
Autosomal Recessive Spastic Paraplegia Type 78
Facial myokymia, Neurogenic bladder ORPHA:513436
Melioidosis
Pneumonia, Brain abscess, Parotitis, Cutaneous abscess, Lung abscess, Osteoarthritis, Prostatitis... ORPHA:31202
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence, Distal amyotrophy ORPHA:352641
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Urinary incontinence OMIM:607225
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Malar rash, Nephritis, Hemolytic anemia, Pericarditis, Thrombocytope... OMIM:152700
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Decreased serum creatinine, Abdominal pain, Renal in... ORPHA:54057
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Proteinuria, Distal upper limb amyotrophy, Distal lower limb amyotroph... OMIM:614455
Cog5-Cdg
Hepatosplenomegaly, Camptodactyly of finger, Micropenis, Cryptorchidism, Neurogenic bladder, Urin... ORPHA:263487
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Proteinuria, C... ORPHA:340
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal agenesis, Hypogonadotropic hypogonadism, Bladder diverticulum, Blepharitis, Micropenis, Hyd... OMIM:604292
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Small for gestational age, Limb muscle weakness, Diaphragmatic eventrati... OMIM:604320
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerul... ORPHA:33001
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hydronephrosis, Splenomegaly, Elevated circulating creatine kinase conce... OMIM:608779
Trisomy 17P
Flexion contracture, Skeletal muscle atrophy, Hydronephrosis, Hypoplasia of penis, Polycystic kid... ORPHA:261290
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Pelizaeus-Merzbacher Disease In Female Carriers
Abnormality of the lower urinary tract, Neurogenic bladder ORPHA:280229
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Bowel incontinence, Skeletal muscle atrophy OMIM:105300
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Neurogenic bladder ORPHA:466934
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Failure to thrive OMIM:617093
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Hypothyroidism, Adrenal insufficiency, Nephrotic syndrome, Proteinur... OMIM:617575
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Scleritis, Renal neutrop... ORPHA:91500
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Nocturia, Urinary urgency, A... ORPHA:37202
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Scalp-Ear-Nipple Syndrome
Renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency OMIM:181270
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Neurogenic bladder OMIM:616683
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Chest pain, Proteinuria, Peritonitis, Renal amyloidosis, Abdominal pain, Renal insuff... OMIM:134610
Anti-Glomerular Basement Membrane Disease
Chest pain, Hematuria, Proteinuria, Anemia, Glomerulopathy, Myalgia, Renal insufficiency, Arthral... ORPHA:375
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Protein... OMIM:274150
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia OMIM:609727
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Cryptorchidism, Proximal musc... ORPHA:169189
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Adrenoleukodystrophy
Primary adrenal insufficiency, Lower limb muscle weakness, Hypogonadism, Urinary bladder sphincte... OMIM:300100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Hyponatremia, Leukopenia, Proteinuria, Polyuria, Chronic kidney dise... OMIM:613845
46,Xy Sex Reversal 4
Hypoplastic labia majora, Recurrent otitis media, Elevated circulating creatinine concentration, ... OMIM:154230
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Hypohidrosis, Failure to thrive in infancy, Colitis, Bronchiectasis, Urethra... OMIM:301220
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Stage 5 chronic kidney disease, Nephritis OMIM:609057
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis, Cachexia ORPHA:139436
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Decreased plasma total carnitine, Skeletal muscle atrophy, Elevated urinar... ORPHA:42
Pure Autonomic Failure
Dysuria, Constitutional symptom, Impotence, Urinary incontinence, Anhidrosis ORPHA:441
Denys-Drash Syndrome
Nephrotic syndrome, Proteinuria, Male pseudohermaphroditism, Nephroblastoma, Nephropathy, Gonadal... ORPHA:220
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Glycogen Storage Disease X
Rhabdomyolysis, Myoglobinuria, Exercise-induced myalgia, Elevated circulating creatine kinase con... OMIM:261670
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Methylmalonic aciduria, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati... ORPHA:1933
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Spastic Paraplegia 7, Autosomal Recessive
Lower limb muscle weakness, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincte... OMIM:607259
Galactosemia I
Hypergalactosemia, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol i... OMIM:230400
Spastic Paraplegia 15, Autosomal Recessive
Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysfunction, Distal amyotr... OMIM:270700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Cholangitis, Ragged-red muscle fibers, Tubulointerstitial nephritis, Aminoaciduri... OMIM:124000
Glycogen Storage Disease Xi
Rhabdomyolysis, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine kinase con... OMIM:612933
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Gitelman Syndrome
Hypokalemia, Proteinuria, Hashimoto thyroiditis, Gout, Iron deficiency anemia, Hypomagnesemia, Re... ORPHA:358
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Thrombocytosis, Coombs-posi... OMIM:614034
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Frasier Syndrome
Primary amenorrhea, Nephrotic syndrome, Proteinuria, Ovarian gonadoblastoma, Male pseudohermaphro... OMIM:136680
Sacral Defect With Anterior Meningocele
Back pain, Urinary retention, Rectal abscess, Neurogenic bladder OMIM:600145
Maternally-Inherited Diabetes And Deafness
Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Myalgia, Renal insufficiency ORPHA:225
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence, Hypergonadotropic hypogonadism OMIM:617145
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... ORPHA:496641
Syringomyelia, Noncommunicating Isolated
Urinary incontinence, Neck pain, Limb muscle weakness OMIM:186700
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Abnormality of the kidney, Prostatitis, Renal insufficiency, Xerostomia ORPHA:449432
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Hydrocele testis OMIM:614920
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Proteinuria ORPHA:66631
Mu-Heavy Chain Disease
Splenomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Nephropathy, Weight loss ORPHA:100024
Frasier Syndrome
Nephrotic syndrome, Primary amenorrhea, Proteinuria, Gonadal dysgenesis with female appearance, m... ORPHA:347
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Nephropathy, Proteinuria ORPHA:2774
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impotence, Urinary incontinence, Foot dorsiflexor weakness, Distal amyotrophy ORPHA:98
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276241
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys, Multiple glomerular cysts OMIM:618719
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria OMIM:250950
Pediatric Systemic Lupus Erythematosus
Chest pain, Myositis, Nephrotic syndrome, Leukopenia, Hematuria, Proteinuria, Microangiopathic he... ORPHA:93552
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, External genital hypoplasia, Stage 5 chronic kidney d... OMIM:613390
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Abdominal pain, Hy... ORPHA:656
Wolfram Syndrome 2
Primary amenorrhea, Oligomenorrhea, Neurogenic bladder OMIM:604928
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, Urinary urgency, ... OMIM:606071
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypothyroidism, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemi... OMIM:256300
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Obesity, Hyperuri... ORPHA:261222
Currarino Syndrome
Rectovaginal fistula, Horseshoe kidney, Septate vagina, Bicornuate uterus, Recurrent urinary trac... OMIM:176450
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Abnormality of the extraocular muscles, Cholangitis, Orchitis, Abnormali... ORPHA:449563
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Obesity ORPHA:464282
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Hydroureter, Thrombocyto... OMIM:598500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Cryptorchidism, Anemia, Nephropathy ORPHA:1192
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dysuria, Hydronephrosis, Multicystic kidney dysplasia, Anemia, Rec... ORPHA:79404
Adrenomyeloneuropathy
Leg muscle stiffness, Male sexual dysfunction, Adrenal insufficiency, Primary adrenal insufficien... ORPHA:139399
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder ORPHA:500144
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myalgia, Rhabdomyolysis, Myoglobinuria, Renal insufficiency OMIM:255110
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Hydrometroco... ORPHA:2473
Dopamine Beta-Hydroxylase Deficiency
Chest pain, Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased b... ORPHA:230
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, Acute kidney injury, Hyperkalemia, EMG... ORPHA:57
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased body weight, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Decrease... OMIM:618347
Immunodeficiency 19
Failure to thrive, Recurrent otitis media, Lymphopenia OMIM:615617
Renpenning Syndrome
Decreased testicular size, Hypospadias, Cachexia, Skeletal muscle atrophy ORPHA:3242
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Skeletal muscle atrophy, Cryptorchidism, Hydronephrosis, Renal atrophy, Congeni... OMIM:618578
Spastic Paraplegia 54, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Bowel incontinence OMIM:615033
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276244
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, ... ORPHA:839
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum ORPHA:90348
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Urinary retention, Hyponatremia, Dysuria, Proximal muscl... ORPHA:79276
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine kinase con... ORPHA:2364
Primary Sjögren Syndrome
Optic neuritis, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Arteritis... ORPHA:289390
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Leukopenia, Hashimoto thyroiditis, Graves disease, Autoimmune t... ORPHA:227982
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Rhabdomyolysis, Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine k... OMIM:268200
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence, Flexion contracture OMIM:604802
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Tubulointerstitial nep... ORPHA:227990
Uremic Pruritus
Hypermagnesemia, Recurrent skin infections, Hypercalcemia, Increased blood urea nitrogen, Chronic... ORPHA:94059
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Pancytopenia, Proteinuria, Anemia, Impotence, Reduced haptoglobin level, Thrombocytop... ORPHA:447
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Meier-Gorlin Syndrome 7
Decreased body weight, Urethral stricture, Micropenis, Cryptorchidism, Vesicoureteral reflux, Hyp... OMIM:617063
Exstrophy-Epispadias Complex
Male sexual dysfunction, Cryptorchidism, Absent penis, Renal dysplasia, Bladder duplication, Cyst... ORPHA:322
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Small for gestational age, Proteinuria, Mucopolysacchariduria, Abnormal T cel... OMIM:215250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita OMIM:618265
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Diastasis recti, Skeletal muscle atrophy, Cryptorchidism, Abnormal circulating li... ORPHA:488632
Retinal Venous Beading
Neutropenia, Nephritis OMIM:180080
Myoglobinuria, Autosomal Dominant
Myalgia, Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... ORPHA:650
Arnold-Chiari Malformation Type Ii
Upper limb muscle weakness, Hand muscle atrophy, Pneumonia, Neurogenic bladder ORPHA:1136
Immunodeficiency 50
Eczema, Neutropenia, Recurrent urinary tract infections, Lymphopenia OMIM:300988
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Hypohidrosis, Anhidrosis OMIM:243000
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Multicentric Carpotarsal Osteolysis Syndrome
Wrist pain, Proteinuria, Ankle pain, Congenital diaphragmatic hernia, Bilateral renal atrophy, Re... OMIM:166300
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Cryptorchidism, Hydronephrosis, Anemia, Renal insufficiency, Campto... OMIM:611209
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Dopa-Responsive Dystonia
Urinary incontinence, Fatigue, Pain, Hyperhidrosis ORPHA:255
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Cryptococcosis
Chest pain, Pneumonia, Peritonitis, Prostatitis, Limb muscle weakness, Lymphoid leukemia, Osteomy... ORPHA:1546
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Recurrent urinary tract infections, Flexion contracture of finger, Urina... OMIM:609033
X-Linked Non-Syndromic Intellectual Disability
Urinary incontinence, Facial palsy, Obesity, Small for gestational age ORPHA:777
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence, Flexion contracture ORPHA:157946
Malakoplakia
Urinary bladder inflammation, Chest pain, Hematuria, Proteinuria, Dysuria, Orchitis, Prostate neo... ORPHA:556
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Hypoparathyroidism, Neph... OMIM:301050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Cockayne Syndrome
Unilateral renal agenesis, Nephrotic syndrome, Proteinuria, Skeletal muscle atrophy, Renal hypopl... ORPHA:191
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Aa Amyloidosis
Adrenal insufficiency, Enlarged kidney, Hypothyroidism, Nephrotic syndrome, Acute kidney injury, ... ORPHA:85445
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss ORPHA:79238
Parkinsonian-Pyramidal Syndrome
Hypomimic face, Neurogenic bladder ORPHA:171695
Glycogen Storage Disease V
Myoglobinuria, Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Dark... OMIM:232600
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Cachexia ORPHA:1133
Silver-Russell Syndrome
Failure to thrive in infancy, Cryptorchidism, Abnormal vagina morphology, Obesity, Precocious pub... ORPHA:813
Pulmonary Blastoma
Chest pain, Recurrent pneumonia, Weight loss ORPHA:64741
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Intermediate Uveitis
Anterior uveitis, Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis ORPHA:279914
Cocaine Intoxication
Chest pain, Rhabdomyolysis, Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephri... ORPHA:90068
Cockayne Syndrome Type 3
Unilateral renal agenesis, Urinary retention, Flexion contracture, Skeletal muscle atrophy, Hydro... ORPHA:90324
Neuroleptic Malignant Syndrome
Hypernatremia, Rhabdomyolysis, Hyponatremia, Leukocytosis, Rigors, Acute kidney injury, Proteinur... ORPHA:94093
Chiari Malformation Type I
Urinary incontinence, Neck pain, Limb muscle weakness OMIM:118420
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Spinocerebellar Ataxia Type 42
Impotence, Urinary urgency, Urinary incontinence, Psoriasiform dermatitis ORPHA:458803
Simple Cryoglobulinemia
Viral hepatitis, Nephrotic syndrome, Weight loss, Proteinuria, Mesangial hypercellularity, Arthri... ORPHA:91139
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Fatigue, Pustule, ... ORPHA:69126
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Joint contractures involving the joints of the feet, Flexion contracture, Recurrent skin infectio... ORPHA:79408
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Fragile X Tremor/Ataxia Syndrome
Premature ovarian insufficiency, Hypothyroidism, Impotence, Myalgia, Urinary incontinence, Bowel ... OMIM:300623
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Bowel incontinence OMIM:618868
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Acute kidney injury, Skeletal muscle atrophy, Highly elevated creatine kinase, Ch... ORPHA:368
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Flexion contracture, Leukopenia, Protei... OMIM:617303
Adult Krabbe Disease
Lower limb muscle weakness, Urinary incontinence, Erectile dysfunction, Upper limb muscle weakness ORPHA:206448
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Impotence OMIM:105210
Camptobrachydactyly
Urinary incontinence, Septate vagina, Congenital finger flexion contractures OMIM:114150
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Generalized amyotrophy, Urinary incontinence OMIM:601162
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Acute kidney injury, P... OMIM:618886
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Abdominal pain, Urinary incontinence, Elevated urinary delta-aminolev... OMIM:176000
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Dent Disease
Glycosuria, Proteinuria, Bone pain, Renal hypophosphatemia, Nephrocalcinosis, Hyperuricosuria, Hy... ORPHA:1652
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Increased inflammatory response, Elevated circulating C-reacti... ORPHA:449400
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induce... OMIM:300653
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myoglobinuria, Exercise-induced myalgia, Myopathy, Hyperbilirubinemia, Hemolytic ... ORPHA:713
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula ORPHA:2728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Muscular dystrophy, Elevated circulating creatine kinase ... OMIM:615287
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Attrv30M Amyloidosis
Impotence, Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Foot dorsiflexor weakness, Abnormality of the extraocular muscles,... ORPHA:298
Legionnaires Disease
Chest pain, Hyponatremia, Hematuria, Proteinuria, Infectious encephalitis, Endocarditis, Myocardi... ORPHA:549
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Distal urethral duplication OMIM:277465
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Failure to thrive, Postexertional malaise ORPHA:369
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Contractures of the joints of the lower limbs, Cachexia, Distal amyotrop... ORPHA:300605
Dyskeratosis Congenita, X-Linked
Pancytopenia, Blepharitis, Horseshoe kidney, Leukopenia, Cryptorchidism, Acute myeloid leukemia, ... OMIM:305000
Cryoglobulinemic Vasculitis
Gangrene, Viral hepatitis, Hematuria, Proteinuria, Splenomegaly, Keratoconjunctivitis sicca, Glom... ORPHA:91138
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Abnormality of the diaphragm, Hydronephrosis, Ureteral atresia OMIM:183802
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Genetic Recurrent Myoglobinuria
Oliguria, Proximal muscle weakness in upper limbs, Type 2 muscle fiber atrophy, Viral infection-i... ORPHA:99845
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Hand muscle atrophy, Foot dorsiflexor weakness, Proximal... ORPHA:101085
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Mild proteinuria, Small for gestational age, Increased serum pyruvate, Hypospadia... OMIM:619147
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Hypohidrosis, Proteinuria, Increased bloo... ORPHA:90321
Yao Syndrome
Chest pain, Weight loss, Nephrolithiasis, Keratoconjunctivitis sicca, Abdominal pain, Myalgia, In... OMIM:617321
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Failure to thrive, Limb hypertonia OMIM:616973
Cystinosis
Hypokalemia, Hypothyroidism, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Fatigue, Myop... ORPHA:213
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Primary amenorrhea, Hematuria, Prote... OMIM:146255
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... OMIM:143880
Diffuse Alveolar Hemorrhage
Chest pain, Leukocytosis, Elevated circulating creatinine concentration, Hematuria, Proteinuria, ... ORPHA:90060
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Facial palsy, Hip contracture, Weakness of faci... OMIM:301041
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Cachexia, Bifid scrotum, Hypospadias ORPHA:217346
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Epididymal cyst, Exocrine pancreatic insufficiency, Elevat... OMIM:137920
Renal Nutcracker Syndrome
Vulval varicose vein, Infertility, Varicocele, Hematuria, Proteinuria, Dysmenorrhea, Abdominal pa... ORPHA:71273
Glycogen Storage Disease Ixd
Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Exercise-induced my... OMIM:300559
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Bowel incontinence ORPHA:289560
Sandhoff Disease
Hepatosplenomegaly, Hypohidrosis, Skeletal muscle atrophy, Macroglossia, Impotence, Urinary incon... OMIM:268800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal pain, Weight loss, Cachexia, Slender build OMIM:613662
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Hypercalcemia, Acute kidney injury, Chro... ORPHA:284426
Xfe Progeroid Syndrome
Proteinuria, Failure to thrive, Cachexia, Renal insufficiency, Hypoalbuminemia, Premature ovarian... OMIM:610965
Sarcoidosis
Hypothyroidism, Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Abnormal reprod... ORPHA:797
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Acute kidney injury, Thrombocytopenia, Neutropenia, Lymphop... ORPHA:859
Idiopathic Achalasia
Chest pain, Recurrent aspiration pneumonia, Weight loss, Decreased prealbumin level ORPHA:930
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... OMIM:616026
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Recurrent otitis media, Cryptorchidism, Hydronephrosis, Renal hypoplasia OMIM:618494
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Insulin-Resistance Syndrome Type B
Glycosuria, Decreased body weight, Pneumonia, Weight loss, Polycystic ovaries, Proteinuria, Leuko... ORPHA:2298