| Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
| Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
| Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Xanthinuria, Type I |
|
Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Myopathy, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,... |
OMIM:191800 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... |
OMIM:236730 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Muscle fiber atro... |
ORPHA:228302 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Cryptorchidism, ... |
ORPHA:2704 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... |
OMIM:607665 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Renal dysplasia, Torticollis, Unilateral renal atrophy, Pyelonephritis, Nephritis, Oligospermia, ... |
OMIM:314300 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Myopathy, Megacystis, Abnormality of the urinar... |
ORPHA:977 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Arthralgia |
OMIM:216950 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Arthralgi... |
OMIM:613944 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Abnormal testis morphology, Hepatosplenomegaly, Oligospermia, Primary test... |
ORPHA:85450 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
| Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
OMIM:605280 |
| Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
| Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
OMIM:604805 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
OMIM:607152 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Nephrolithiasis, Fetal pyelectasis, Recurrent urinary tract infections |
OMIM:619365 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Failure to thrive, Polyuria, Megacystis |
OMIM:125800 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal dysplasia, Autoimmune thrombocytopenia, Hypertrophy of the urinary bladder, Renal hypoplasi... |
OMIM:601389 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Failure to thrive, Polyuria, Megacystis |
OMIM:304800 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chroni... |
OMIM:251000 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Microsporidiosis |
|
Brain abscess, Prostatitis, Cachexia, Myositis, Decreased proportion of CD4-positive helper T cel... |
ORPHA:2552 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
| Endove Syndrome, Limb-Brain Type |
|
Osteomyelitis, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydrone... |
OMIM:619218 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
| Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
ORPHA:100994 |
| Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness |
OMIM:613096 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Hyperuricemia, Stage 5 chronic kidne... |
OMIM:174000 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:603563 |
| Intellectual Developmental Disorder, X-Linked 29 |
|
Testicular dysgenesis, Urinary incontinence |
OMIM:300419 |
| Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:611945 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis, Obe... |
OMIM:616629 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Arthralgi... |
OMIM:161950 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruc... |
OMIM:140000 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, Lower ... |
OMIM:182600 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Anemia, Muscular dystroph... |
OMIM:226670 |
| Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
OMIM:600363 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Decreased fertility, Multicystic kidney dysplasi... |
ORPHA:2970 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Prostatitis, Inflammatory abnormality of the eye, Pericarditis, Weight loss, Gang... |
ORPHA:900 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Siddiqi Syndrome |
|
Urinary incontinence, Flexion contracture, Lower limb amyotrophy |
OMIM:618635 |
| Adult Polyglucosan Body Disease |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder |
ORPHA:206583 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle w... |
OMIM:607565 |
| Silver-Russell Syndrome 1 |
|
Nephroblastoma, Decreased response to growth hormone stimulation test, Congenital posterior ureth... |
OMIM:180860 |
| X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Urethral stenosis |
OMIM:619816 |
| Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sideroblastic anemia, Test... |
OMIM:222300 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Pyelonephritis, Megacystis, Peritonitis, Fetal megacystis |
OMIM:619351 |
| Foix-Alajouanine Syndrome |
|
Urinary incontinence, Female sexual dysfunction, Myelitis, Back pain, Urinary retention, Neurogen... |
ORPHA:79093 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... |
ORPHA:567544 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Elevated... |
ORPHA:306511 |
| Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Weight loss, Nephrotic syndrome, Hepatitis... |
ORPHA:139402 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Urinary incontinence, Neurogenic bladder |
OMIM:263570 |
| Hemangioblastoma |
|
Upper limb muscle weakness, Trigeminal neuralgia, Lower limb muscle weakness, Neurogenic bladder |
ORPHA:252054 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:604187 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Failure to thrive, Increased... |
OMIM:613845 |
| Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... |
OMIM:618612 |
| Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Renal insufficiency, Thrombocytopenia, Nephritis |
ORPHA:3327 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary incontinence, Urinary urgency, Distal lower limb muscle weakness, Distal lower limb amyot... |
ORPHA:444099 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
| Diencephalic Syndrome |
|
Hyperhidrosis, Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
| Lymphatic Filariasis |
|
Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Hypereosinophilia, Nephrotic syndro... |
ORPHA:2035 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Episodic abdominal pain, Elevated circulating acylcarnitine concent... |
ORPHA:157 |
| Duplication Of Urethra |
|
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... |
ORPHA:237 |
| Lead Poisoning |
|
Decreased female libido, Oligospermia, Skin rash, Abdominal pain, Impairment of activities of dai... |
ORPHA:330015 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Low back pain, Psoriasiform dermatitis, Retrograde ejaculation, Weight loss, Acute kid... |
ORPHA:49041 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:300266 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:182601 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Abdomi... |
ORPHA:93126 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... |
OMIM:617805 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder |
OMIM:618248 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary incontinence, Urinary urgency, Arthritis |
ORPHA:320365 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Slender build, Urinary incontinence, 3-Methylglutaconic aciduria, Failure to thrive |
ORPHA:505216 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Urinary urgency |
OMIM:156310 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Limb hypertonia, Increased circulat... |
OMIM:617595 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... |
OMIM:307200 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Neurogenic bladder,... |
OMIM:615926 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinur... |
OMIM:613092 |
| Majeed Syndrome |
|
Glomerulopathy, Flexion contracture, Osteomyelitis, Weight loss, Inflammatory abnormality of the ... |
ORPHA:77297 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Weight loss, Skin rash, Arthritis, Ab... |
ORPHA:183 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Failure to thrive, Hyperalaninemia |
OMIM:614582 |
| Hereditary Renal Hypouricemia |
|
Back pain, Postexertional symptom exacerbation, Acute kidney injury, Abnormal renal tubule morpho... |
ORPHA:94088 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive |
OMIM:612075 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Urinary incontinence, Skeletal muscle atrophy |
ORPHA:100988 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Eczema, A... |
ORPHA:37042 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:616907 |
| Listeriosis |
|
Septic arthritis, Brain abscess, Pericarditis, Pneumonia, Abscess, Splenic abscess, Endocarditis,... |
ORPHA:533 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Glutathionuria |
|
Urinary incontinence, Eczema, Glutathionuria |
OMIM:231950 |
| Perineural Cyst |
|
Impotence, Low back pain, Anal pain, Male sexual dysfunction, Bowel incontinence, Retrograde ejac... |
ORPHA:65250 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
| Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... |
ORPHA:2795 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrop... |
OMIM:500013 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
| Preeclampsia |
|
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... |
ORPHA:275555 |
| Apnea, Central Sleep |
|
Urinary incontinence |
OMIM:207720 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, ... |
ORPHA:231111 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Neurogenic bladder |
OMIM:613612 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Urinary incontinence |
ORPHA:329329 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, Back pain, Neurogenic bladde... |
ORPHA:79473 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Multiple Sclerosis, Susceptibility To |
|
Urinary incontinence, Urinary hesitancy |
OMIM:126200 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:604360 |
| Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Abdominal pain, Megacystis, Pancreatitis, Hydronephrosis |
OMIM:155310 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Episodic hyperhidrosis, Osteomyelitis |
OMIM:613115 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence, Lower limb muscle weakness, Skeletal muscle atrophy, Distal lower limb musc... |
OMIM:615284 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Hyperhidrosis, ... |
OMIM:619173 |
| X-Linked Adrenoleukodystrophy |
|
Impotence, Urinary bladder sphincter dysfunction, Neurogenic bladder, Adrenal insufficiency, Abno... |
ORPHA:43 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
| Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Aplasia of the abdominal wall musculature, Xero... |
OMIM:100100 |
| Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hypoplastic male external genitalia, Hydronephrosis |
OMIM:247990 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency, Neurogenic bladder |
OMIM:611390 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Urinary incontinence, Upper limb amyotrophy, Lower limb muscle weakness, Abnormal circulating cho... |
OMIM:270800 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron... |
OMIM:615996 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Irregular menstruation, Hyperuricemia, Decreased re... |
OMIM:203800 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Urinary incontinence, Torticollis, Lower limb muscle weakness, Generalized amyotrophy |
OMIM:619686 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Stage 5 chronic kidney disease, Elevated circulating creatine kinas... |
OMIM:614455 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
| Visceral Myopathy 2 |
|
Esophagitis, Necrotizing enterocolitis, Megacystis |
OMIM:619350 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Alkaptonuria |
|
Aminoaciduria, Thickened Achilles tendon, Prostatitis, Arthritis, Tendon rupture, Arthralgia, Nep... |
ORPHA:56 |
| Myopathy, Myofibrillar, 7 |
|
Urinary incontinence, Increased variability in muscle fiber diameter, Flexion contracture, Enures... |
OMIM:617114 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum,... |
ORPHA:90349 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Failure to thrive |
OMIM:617698 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Flexion contracture, Neurogenic bladder |
OMIM:617762 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Urinary incontinence, Limb joint contracture, Failure to thrive |
ORPHA:309162 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hypercholesterolemia, Argin... |
ORPHA:470 |
| Image Syndrome |
|
Hypospadias, Cryptorchidism, Hypogonadism, Hydronephrosis |
ORPHA:85173 |
| Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Septic arthritis, Anemia, T lymphocytopenia, Bronchiectasis, Prostatitis, Recurre... |
OMIM:300755 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Urinary incontinence, Peroneal muscle atrophy, Amyotrophy of ankle musculature, Thenar muscle wea... |
ORPHA:171617 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Urinary incontinence, Lower limb muscle weakness |
OMIM:613647 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomeruloscl... |
OMIM:603278 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Peroneal muscle atrophy |
ORPHA:100989 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Giant platelets, Nephritis, Nephropathy, Menorrhagia, Proteinuria, R... |
ORPHA:182050 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Abnormal tendon morphology, Decreased testicular size, Infertility, Reduced... |
ORPHA:320391 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder, Bilateral cryptorchidis... |
ORPHA:466722 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder |
OMIM:615911 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lymphocytosis, Arthralgia, Myopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| 3-Methylglutaconic Aciduria, Type I |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Failure to thrive |
OMIM:250950 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome |
OMIM:614652 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Cryptorchidism, Megacystis |
ORPHA:2241 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Back pain, Fatty replacement of skeletal muscle, Bowel incontinence, Weakne... |
ORPHA:329478 |
| Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
| Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Renal in... |
ORPHA:84085 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Abnormality of the kidney, Camptodactyly, Enuresis |
ORPHA:459061 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hype... |
OMIM:245900 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary incontinence, Female sexual dysfunction, Lower limb muscle weakness, Urinary urgency, Mal... |
ORPHA:100993 |
| Isolated Epispadias |
|
Urinary incontinence, Vesicoureteral reflux, Bifid clitoris, Anteriorly displaced urethral meatus... |
ORPHA:93928 |
| Scalp-Ear-Nipple Syndrome |
|
Hypohidrosis, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Dupl... |
ORPHA:2036 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter... |
OMIM:301068 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Facial myokymia, Skeletal muscle atrophy, Neurogenic bladder |
ORPHA:513436 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100985 |
| Lymphatic Malformation 1 |
|
Urethral stricture, Hydrocele testis |
OMIM:153100 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplenomegaly... |
OMIM:619858 |
| Brain-Lung-Thyroid Syndrome |
|
Vesicoureteral reflux, Compensated hypothyroidism, Hypospadias, Recurrent pneumonia, Failure to t... |
ORPHA:209905 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Neurogenic bladder |
OMIM:619780 |
| Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... |
ORPHA:169189 |
| Glycogen Storage Disease X |
|
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myopathy, Exercise intoleranc... |
OMIM:261670 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
| X-Linked Intellectual Disability, Schimke Type |
|
Knee flexion contracture, Vesicoureteral reflux, Hip contracture, Elbow flexion contracture, Ankl... |
ORPHA:85285 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Proteinuria, Splenomegaly |
OMIM:105200 |
| Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... |
OMIM:152700 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Urinary incontinence, Distal amyotrophy |
OMIM:602099 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Hepatosplenomegaly, Multiple joint contractures, Neurogenic bladder |
ORPHA:466934 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Skeletal muscle atrophy, Nephritis |
OMIM:274240 |
| Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Acute tubulointerstitial nephritis, Glomerulonephritis, Oliguria, Thromboc... |
ORPHA:340 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Anhidrosis, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia,... |
ORPHA:251004 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
Urinary incontinence |
OMIM:613206 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Infertility, Limb muscle weakness, Lower limb muscle weakness |
OMIM:614409 |
| Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
| 22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity |
OMIM:619255 |
| Melioidosis |
|
Septic arthritis, Brain abscess, Prostatitis, Hepatitis, Splenic abscess, Liver abscess, Cutaneou... |
ORPHA:31202 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Abdominal pain, Hematuria, Decreased seru... |
ORPHA:54057 |
| Cog5-Cdg |
|
Camptodactyly of finger, Urinary incontinence, Joint contracture of the hand, Neurogenic bladder,... |
ORPHA:263487 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Cryptorchidism, Hydronephrosis |
OMIM:224250 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Neurogenic bladder, Elevated circ... |
ORPHA:96180 |
| Glycogen Storage Disease Xi |
|
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myalgia, Exercise intolerance... |
OMIM:612933 |
| Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Urinary incontinence |
OMIM:618402 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Urinary incontinence, Wrist drop, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Dista... |
OMIM:616688 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Abnormality of the lower urinary tract, Neurogenic bladder |
ORPHA:280229 |
| Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:617575 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Urinary incontinence, Hyperhidrosis, Denervation of the diaphragm, Spina... |
OMIM:604320 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... |
ORPHA:33001 |
| Trisomy 17P |
|
Flexion contracture, Polycystic kidney dysplasia, Hypoplasia of penis, Macroglossia, Skeletal mus... |
ORPHA:261290 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Urinary incontinence |
OMIM:213600 |
| Amyotrophic Dystonic Paraplegia |
|
Bowel incontinence, Urinary incontinence, Skeletal muscle atrophy |
OMIM:105300 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia, Vaginal stricture, Urethral stricture, Gastrointestinal inflammation, Abnormality of the ... |
ORPHA:79409 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Back pain, Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstructio... |
OMIM:143400 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:607259 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder |
ORPHA:572013 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary incontinence, Urinary urgency |
OMIM:612319 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Urinary incontinence, Achilles tendon contracture |
OMIM:607225 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Urethral stricture, Pancytopenia, Urethral stenosis, Cryptorchidism, Thrombocytopenia... |
OMIM:613990 |
| Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence |
OMIM:603472 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Urinary incontinence |
OMIM:620094 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Peritonitis, Abdominal pain, Erysipelas, Arthralgia, Proteinuria, Renal amyl... |
OMIM:134610 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence |
OMIM:249900 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Anemia, Arthritis, Hematuria, Arthralgia, Myalgia, Proteinuria, Renal insufficien... |
ORPHA:375 |
| Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Nocturia, Abnormal labia morph... |
ORPHA:37202 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Flexion contracture, Neurogenic bladder |
OMIM:616683 |
| Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Urinary urgency |
OMIM:616795 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Bowel incontinence, Urinary incontinence |
OMIM:236690 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia |
OMIM:247800 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Renal dysplasia, Hy... |
OMIM:604292 |
| Unilateral Focal Polymicrogyria |
|
Urinary incontinence |
ORPHA:268947 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia, Urinary hesitancy |
OMIM:609727 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Elevated maternal serum alpha-fetoprotein, Arthrogryposis multiplex con... |
OMIM:226730 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microangiopathic hemolytic anemia, Abnormal renal physiology, Reticulo... |
OMIM:274150 |
| Adrenoleukodystrophy |
|
Urinary incontinence, Impotence, Hypogonadism, Urinary bladder sphincter dysfunction, Lower limb ... |
OMIM:300100 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Recurrent otitis media, Incre... |
OMIM:154230 |
| Immunodeficiency 18 |
|
Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis, Cachexia |
ORPHA:139436 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dicarboxylic aciduria, E... |
ORPHA:42 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Splenomegaly, Conjugate... |
OMIM:620010 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Distal lower limb amyotrophy, Hand muscle atrophy, Urinary urgency, Distal ... |
OMIM:606071 |
| Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Abnormality of the kidney, Cholangitis, Xerostomia, Eosinophilia, Renal insufficiency |
ORPHA:449432 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atro... |
ORPHA:1933 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hypohidrosis, Bronchiectasis, Urethral stricture, Recurrent pneumonia, Colitis, Failure to thrive... |
OMIM:301220 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Neurogenic bladder |
OMIM:617669 |
| Syringomyelia, Noncommunicating Isolated |
|
Urinary incontinence, Limb muscle weakness, Neck pain |
OMIM:186700 |
| Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
| Gitelman Syndrome |
|
Graves disease, Decreased urinary potassium, Hyperhidrosis, Renal tubular acidosis, Abdominal pai... |
ORPHA:358 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:270700 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Urethral stricture, Pancytopenia, Failure to thrive, Thrombocytopenia, Aplastic anemi... |
OMIM:613989 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Nephropathy, Male pseudohermaphroditism, Gonadal dysgenesis, ... |
ORPHA:220 |
| Peroxisome Biogenesis Disorder 14B |
|
Urinary incontinence, Hydrocele testis |
OMIM:614920 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Urinary incontinence, Hypergonadotropic hypogonadism |
OMIM:617145 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Elevated circulating creatine kinase concentration, Failure to thrive, Skelet... |
OMIM:608779 |
| Macs Syndrome |
|
Recurrent aphthous stomatitis, Decreased body weight, Bronchiectasis, Hypergonadotropic hypogonad... |
OMIM:613075 |
| Megabladder, Congenital |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts |
OMIM:618719 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Increased cir... |
OMIM:614034 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Myalgia, Proteinuria, Renal insufficiency |
ORPHA:225 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Anemia, Renal insufficiency, Hyperparathyroidism, Hypercalcemia, Proteinuria |
ORPHA:2668 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Urinary incontinence, Neurogenic bladder, Elevated circulating creatine kinase concentration, Rec... |
ORPHA:496641 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence |
OMIM:617927 |
| Pure Autonomic Failure |
|
Urinary incontinence, Impotence, Dysuria, Anhidrosis, Constitutional symptom |
ORPHA:441 |
| Glycogen Storage Disease V |
|
Hyperuricemia, Rhabdomyolysis, Exercise-induced rhabdomyolysis, Elevated circulating creatine kin... |
OMIM:232600 |
| Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... |
OMIM:136680 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Nephropathy, Cachexia, Proteinuria |
ORPHA:2774 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Nephropathy, Bence Jones Proteinuria, Splenomegaly |
ORPHA:100024 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Primary adrenal insufficiency, Increased blood urea nitrogen, Failure to thrive, Hy... |
OMIM:617872 |
| Cednik Syndrome |
|
Proteinuria, Hypogonadism, Nephrotic syndrome |
ORPHA:66631 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Gonadoblastoma, Renal insufficiency, Streak ovary, Nephrotic synd... |
ORPHA:347 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Microscopic hematuria, Gly... |
ORPHA:97362 |
| Currarino Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Perianal abscess, Recurrent urinary tract infections... |
OMIM:176450 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impotence, Urinary incontinence, Foot dorsiflexor weakness, Distal amyotrophy |
ORPHA:98 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Hemolytic an... |
OMIM:230400 |
| Machado-Joseph Disease Type 1 |
|
Skeletal muscle atrophy, Distal lower limb amyotrophy, Neurogenic bladder |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Skeletal muscle atrophy, Distal lower limb amyotrophy, Neurogenic bladder |
ORPHA:276241 |
| Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Nocturia, Reduced circulating prolactin concentration, Increased blood ur... |
OMIM:223360 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence |
OMIM:600795 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Abdominal pain, F... |
ORPHA:656 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Xerostomia, Neurogenic bladder |
OMIM:618527 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Nephrotic syndrome, Discoid lupus rash, Skin rash, Arthritis, Microangiop... |
ORPHA:93552 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Obesity |
ORPHA:464282 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Nephrotic syndrome, Nephropathy, Cryptorchidism, Proteinuria |
ORPHA:1192 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypothyroidism, Congenital nephrotic syndrome, Small for gestational age, ... |
OMIM:256300 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence |
OMIM:182940 |
| Igg4-Related Ophthalmic Disease |
|
Prostatitis, Abnormality of the kidney, Thyroiditis, Cholangitis, Sinusitis, Elevated circulating... |
ORPHA:449563 |
| Renpenning Syndrome |
|
Decreased testicular size, Hypospadias, Cachexia, Skeletal muscle atrophy |
ORPHA:3242 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myalgia, Renal insufficiency, Myoglobinuria, Rhabdomyolysis |
OMIM:255110 |
| Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Bronchiectasis |
ORPHA:90348 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Rhinitis, Retrograde ejaculation, Nocturia, Elevated urinary dopamine, Increased blood ur... |
ORPHA:230 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder |
ORPHA:500144 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutropenia, Hydroneph... |
OMIM:598500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Recurrent skin ... |
ORPHA:79404 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Nep... |
OMIM:618347 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydrometrocolpo... |
ORPHA:2473 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Atrophic gastritis, Non-caseating epithelioid cell gran... |
ORPHA:227990 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Obe... |
ORPHA:261222 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Autoimmune hypoparathyroidism, Leukopenia, Atrophic gastritis, Non-... |
ORPHA:227982 |
| Wolfram Syndrome 2 |
|
Primary amenorrhea, Oligomenorrhea, Neurogenic bladder |
OMIM:604928 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Hemolytic anemia, Acute kidney in... |
ORPHA:57 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the vagina, Hypoplasia of the bladder, Multicystic kidney dysplasi... |
OMIM:614527 |
| Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Distal lower limb amyotrophy, Neurogenic bladder |
ORPHA:276244 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myalgia, Increased serum pyru... |
ORPHA:2364 |
| Adrenomyeloneuropathy |
|
Urinary incontinence, Female sexual dysfunction, Back pain, Adrenocorticotropic hormone excess, U... |
ORPHA:139399 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephropathy, Giant cell hep... |
OMIM:613404 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Megaloblastic anemia, Microscopic hematuria |
OMIM:261100 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Renal atrophy, Facial hypotonia, Skeletal muscle atrophy, Cryptorchidism, Congeni... |
OMIM:618578 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
| Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Exercise-induced myoglobinuria, Glycogen accumulation in muscle fiber... |
OMIM:300559 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence, Flexion contracture |
OMIM:604802 |
| Childhood Disintegrative Disorder |
|
Bowel incontinence, Urinary incontinence |
ORPHA:168782 |
| Primary Sjögren Syndrome |
|
Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephritis, Parotitis, De... |
ORPHA:289390 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Hypermagnesemia, Increased ... |
ORPHA:94059 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Myalgia, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuri... |
ORPHA:447 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Mac... |
ORPHA:352479 |
| Spinocerebellar Ataxia 17 |
|
Urinary incontinence |
OMIM:607136 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria,... |
OMIM:215250 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Male sexual dysfunction, Abnormality of the urete... |
ORPHA:322 |
| Acute Intermittent Porphyria |
|
Urinary incontinence, Hyperhidrosis, Porphyrinuria, Proximal muscle weakness in lower limbs, Back... |
ORPHA:79276 |
| Immunodeficiency 50 |
|
Neutropenia, Eczema, Lymphopenia, Recurrent urinary tract infections |
OMIM:300988 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency |
OMIM:610250 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Postexertional symptom exacerbation, Rhabdomyolysis, Acute kidney injury, Exercise-induced myoglo... |
ORPHA:368 |
| Cryptococcosis |
|
Chest pain, Osteomyelitis, Prostatitis, Lymphoid leukemia, Peritonitis, Pneumonia, Limb muscle we... |
ORPHA:1546 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, External genital hypoplasia, Renal cyst, Cryptorchidism, Small th... |
OMIM:613390 |
| Scalp-Ear-Nipple Syndrome |
|
Hypohidrosis, Pyelonephritis, Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency |
OMIM:181270 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist pain, Stage 5 chronic kidney disease, Ankle pain, Arthralgia, Congenital diaphragmatic hern... |
OMIM:166300 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Hyperalaninemia |
OMIM:301025 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Skeletal muscle atrophy, Foot dorsiflexor weakness, Urinary retention |
OMIM:616586 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Abnormal circulating lipid concentration, Diastasis recti, Decreased response to ... |
ORPHA:488632 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Urinary incontinence, Joint contracture of the hand, Recurrent urinary tract infections, Camptoda... |
OMIM:609033 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Increased B cell count, Nephrotic syndrome, Coombs-positive hemolytic anemia, Neutrop... |
OMIM:603909 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration, Myalgia, A... |
OMIM:268200 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss |
ORPHA:79238 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Pain, Fatigue, Hyperhidrosis |
ORPHA:255 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Urinary incontinence, Lower limb muscle weakness, Hypomimic face, Distal lower limb muscle weakne... |
OMIM:615033 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence, Flexion contracture |
ORPHA:157946 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence |
OMIM:221770 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Hydronephrosis |
ORPHA:251076 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Skin rash, Abdominal pain, Hematu... |
ORPHA:556 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia, Splenomegaly |
ORPHA:1133 |
| Silver-Russell Syndrome |
|
Hyperhidrosis, Decreased muscle mass, Precocious puberty, Decreased testicular size, Cachexia, Ar... |
ORPHA:813 |
| Arnold-Chiari Malformation Type Ii |
|
Hand muscle atrophy, Upper limb muscle weakness, Pneumonia, Neurogenic bladder |
ORPHA:1136 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Chest pain, Weight loss |
ORPHA:64741 |
| Aa Amyloidosis |
|
Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidn... |
ORPHA:85445 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Hyperhidrosis, Rhabdomyolysis, Acute kidney injury, Abdominal pain,... |
ORPHA:90068 |
| Parkinsonian-Pyramidal Syndrome |
|
Hypomimic face, Neurogenic bladder |
ORPHA:171695 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Abnormality of the kidney, Arthritis... |
ORPHA:91139 |
| Chiari Malformation Type I |
|
Urinary incontinence, Limb muscle weakness, Neck pain |
OMIM:118420 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Cryptorchidism, Neurogenic bladder |
OMIM:130720 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Hemolytic anemia, Exercise-induced myoglobinuria, Erythroid hyperplasia, Reticulo... |
OMIM:300653 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Centrally nucleated skeletal musc... |
OMIM:620138 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Arthralgia, Myositis, Pustule, Fatigue, Proteinuria, Increased inflam... |
ORPHA:69126 |
| Attrv30M Amyloidosis |
|
Weight loss, Nephropathy, Abnormal renal physiology, Impotence |
ORPHA:85447 |
| Cockayne Syndrome |
|
Urinary incontinence, Malar rash, Contractures of the large joints, Hyperuricemia, Limb hypertoni... |
ORPHA:191 |
| Spinocerebellar Ataxia Type 42 |
|
Urinary incontinence, Urinary urgency, Psoriasiform dermatitis, Impotence |
ORPHA:458803 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperhidrosis, Hyperuricemia, Aspiration pneumonia, Rhabdomyolysis, Hyperph... |
ORPHA:94093 |
| Fragile X Tremor/Ataxia Syndrome |
|
Urinary incontinence, Hypothyroidism, Impotence, Premature ovarian insufficiency, Myalgia, Bowel ... |
OMIM:300623 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Congenital thrombocytopenia, Acute kidney injury, Increased circulating fe... |
OMIM:618886 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Bowel incontinence, Urinary incontinence |
OMIM:618868 |
| Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Nephrotic syndrome, Proteinuria, Failure to... |
ORPHA:834 |
| Moynahan Syndrome |
|
Cachexia, Hypogonadism |
ORPHA:2574 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Postexertional symptom exacerbation, Abnormality of the kidney, Failure to thrive, Hyperlipidemia... |
ORPHA:369 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss, Low back pain, Abdominal pain, Elevated circulating C-reactive pr... |
ORPHA:449400 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Urinary retention, Neurogenic bladder, Hydroureter, Keratoconjunctivitis sic... |
ORPHA:90324 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Flexion contracture, Neutropenia, Nephrotic syndrome, ... |
OMIM:617303 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder |
OMIM:613686 |
| Split Cord Malformation |
|
Urinary incontinence, Renal duplication, Back pain, Detrusor sphincter dyssynergia, Neurogenic bl... |
ORPHA:573278 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Urinary incontinence, Lower-limb joint contracture, Muscle fiber atrophy, Cachexia, ... |
ORPHA:300605 |
| Camptobrachydactyly |
|
Urinary incontinence, Congenital finger flexion contractures, Septate vagina |
OMIM:114150 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Impotence |
OMIM:105210 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Eleva... |
ORPHA:1652 |
| Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin conce... |
ORPHA:713 |
| Penoscrotal Transposition |
|
Renal dysplasia, Shawl scrotum, Penoscrotal transposition, Renal agenesis, Abnormality of the ure... |
ORPHA:2842 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Foot joint contracture, Hypohidrosis, Anemia, Uveitis, Male hypogonadism, Failure... |
ORPHA:90321 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Anemia, Decreased muscle mass, Hyperalaninemia, Weight loss, Abdominal pain, Cachexia, Hypergonad... |
ORPHA:298 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Hypohidrosis, Anhidrosis |
OMIM:243000 |
| Legionnaires Disease |
|
Endocarditis, Chest pain, Splenomegaly, Infectious encephalitis, Hepatitis, Abdominal pain, Hemat... |
ORPHA:549 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Lower limb muscle weakness, Abnormality of jaw muscles, Acute kidney injury, E... |
ORPHA:99845 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Distal amyotrophy, Cachexia, Nonprogressive muscular atrophy |
ORPHA:1216 |
| Adult Krabbe Disease |
|
Urinary incontinence, Upper limb muscle weakness, Erectile dysfunction, Lower limb muscle weakness |
ORPHA:206448 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Abdominal pain, Cachexia, Slender build, Ragged-red muscle fibers |
OMIM:613662 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Pancytopenia, Glo... |
OMIM:607426 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Urinary retention, Dysuria, Abdominal pain, Elevated urinary delta-aminolev... |
OMIM:176000 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Gangrene, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, Hematuria, Arthr... |
ORPHA:91138 |
| Sandhoff Disease |
|
Urinary incontinence, Hyperhidrosis, Hypohidrosis, Episodic abdominal pain, Impotence, Macrogloss... |
OMIM:268800 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Yao Syndrome |
|
Weight loss, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sic... |
OMIM:617321 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Small scrotum |
ORPHA:2728 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron d... |
OMIM:618885 |
| Spinocerebellar Ataxia Type 19/22 |
|
Urinary incontinence |
ORPHA:98772 |
| Cystinosis |
|
Aminoaciduria, Hypothyroidism, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Myo... |
ORPHA:213 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Failure to thrive, Proteinuria, Renal insufficiency, H... |
OMIM:610965 |
| Renal Nutcracker Syndrome |
|
Anemia, Weight loss, Vulval varicose vein, Infertility, Hematuria, Abdominal pain, Dysmenorrhea, ... |
ORPHA:71273 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Anemia, Hyperalaninemia, Small for gestational age, Hypochromic microcytic anemia... |
OMIM:619147 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Foot joint contracture, IgA deposition in the glomer... |
ORPHA:79408 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Hematuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine c... |
ORPHA:90060 |
| Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Congenital posterior urethral valve, Hypospadias, Cryptorchidism, Rectoure... |
OMIM:300000 |
| Idiopathic Achalasia |
|
Weight loss, Chest pain, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
| Sarcoidosis |
|
Hypothyroidism, Bronchiectasis, Keratoconjunctivitis sicca, Increased T cell count, Parotitis, Eo... |
ORPHA:797 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Distal lower limb amyotrophy, Hand muscle atrophy, Proximal lower limb amyo... |
ORPHA:101085 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... |
OMIM:613388 |
| Marchiafava-Bignami Disease |
|
Urinary incontinence, Limb hypertonia, Facial palsy |
ORPHA:221074 |
| Williams-Beuren Region Duplication Syndrome |
|
