Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent... |
OMIM:245480 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Hypercholes... |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Impaired vibratory sensation, Distal sensory impairment, Hypercholesterolemia, A... |
OMIM:607250 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... |
ORPHA:567544 |
Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena... |
OMIM:615993 |
Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... |
OMIM:613779 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... |
OMIM:612526 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Elevated circulatin... |
OMIM:208920 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu... |
OMIM:162000 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia, Increased serum bile acid con... |
ORPHA:811 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Positive Romberg sign, Dysmetria, I... |
OMIM:277460 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment |
ORPHA:2690 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a... |
OMIM:608898 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Impaired vibratory sensation, Hypercholesterolemia, Ataxia, Dystonia, Elevated c... |
OMIM:616267 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Somatic sensory dysfunction, Head tremor, Postural tremor, Elevated circulating ... |
ORPHA:64753 |
Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts |
OMIM:609886 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... |
ORPHA:3008 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri... |
ORPHA:411536 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, ... |
OMIM:226990 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Confusion, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... |
OMIM:617610 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hydroce... |
OMIM:615862 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Hepatic failure, Abnormal T cell count, Aplasti... |
OMIM:308240 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Abnormal social behavior |
ORPHA:436151 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu... |
OMIM:613101 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Action tremor, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Malaria |
|
Acute kidney injury, Cognitive impairment |
ORPHA:673 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Depression, Prolinuria, Hydroxyprolinuria, Con... |
ORPHA:79101 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin... |
OMIM:620632 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... |
OMIM:618061 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Hyperglycemia, Hyperlipidemia, Distal sensory impairment, Mildly elevated creatine k... |
OMIM:604484 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Ataxia |
ORPHA:263501 |
Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycinemia, Hypernatremia |
OMIM:620423 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Low-set, posteriorly rotated ears, Hypogonadism, Transient hypog... |
ORPHA:3132 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency |
ORPHA:510 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur... |
ORPHA:79233 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
Babesiosis |
|
Confusion, Depression, Renal insufficiency, Anorexia |
ORPHA:108 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... |
OMIM:278000 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyper... |
OMIM:277410 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... |
OMIM:615244 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis |
OMIM:134610 |
Xanthinuria, Type Ii |
|
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... |
ORPHA:228302 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Renal insufficiency, Pancreatitis, Anorexia, Lacticaciduria |
OMIM:619386 |
Megabladder, Congenital |
|
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys |
OMIM:618719 |
Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... |
OMIM:618349 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis |
ORPHA:375 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... |
OMIM:603860 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:526 |
Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency |
OMIM:620235 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Attention deficit hyp... |
ORPHA:261222 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... |
OMIM:610984 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis |
OMIM:300323 |
Smith-Magenis Syndrome |
|
Pain insensitivity, Hypercholesterolemia, Impaired pain sensation, Hypertriglyceridemia |
OMIM:182290 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Renal insufficiency |
ORPHA:281090 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency, Emotional lability |
OMIM:300653 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:528 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Lateral ventricle dilatation, Decreased glomerular filtration rate, Dyspl... |
ORPHA:488627 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:602522 |
Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... |
OMIM:191800 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Ketotic... |
ORPHA:79240 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2668 |
Hereditary Xanthinuria |
|
Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec... |
ORPHA:3467 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency |
ORPHA:890 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia |
OMIM:613839 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... |
ORPHA:247585 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:166300 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi... |
ORPHA:411543 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst |
OMIM:617056 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythroc... |
ORPHA:264580 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... |
OMIM:603471 |
Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency |
OMIM:613861 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei... |
ORPHA:93126 |
Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... |
ORPHA:93552 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Mental deterioration, Renal insufficiency, Prote... |
OMIM:254900 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency |
OMIM:615996 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... |
OMIM:256300 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Conjunctivitis, Maculopapu... |
OMIM:191900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus |
ORPHA:2377 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability |
OMIM:614227 |
Acute Intermittent Porphyria |
|
Mental deterioration, Depression, Memory impairment, Urinary retention, Pseudobulbar paralysis, C... |
ORPHA:79276 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Conductive hearing impairment, Vagal paraganglioma, Che... |
OMIM:168000 |
Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency |
ORPHA:474 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... |
ORPHA:275555 |
Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... |
ORPHA:101330 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency |
ORPHA:28 |
Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:616730 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Mental deterioration, Steroid-resistant nephrotic syndrome, S... |
OMIM:617575 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Abnormality of the thyroid gland, Diabetes mellitus, Granuloma |
ORPHA:542592 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... |
ORPHA:213 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... |
ORPHA:139402 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... |
ORPHA:368 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus, Tubular... |
OMIM:219730 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Ag... |
OMIM:617595 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Renal insufficiency, Renal tubular dysfunction |
ORPHA:289916 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal insufficiency, Uret... |
ORPHA:49041 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:619644 |
Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Lateral ventricle dilatation, Recurrent urinary tract inf... |
OMIM:619487 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Renal insufficiency, Anorexia |
ORPHA:79312 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma |
OMIM:194072 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2123 |
Lamellar Ichthyosis |
|
Erythroderma, Chronic otitis media, Renal insufficiency, Cognitive impairment |
ORPHA:313 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Chemodectoma, Adrenal pheochromocytoma, Paraganglioma, ... |
OMIM:605373 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Impaired pain sensation, Hypertriglyceridemia |
ORPHA:819 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Hypoglycemia |
OMIM:620454 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Depression, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithi... |
OMIM:600740 |
Microscopic Polyangiitis |
|
Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator... |
ORPHA:727 |
Serotonin Syndrome |
|
Mental deterioration, Acute kidney injury, Confusion, Irritability, Delirium, Restlessness, Agita... |
ORPHA:43116 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
Simple Cryoglobulinemia |
|
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnorma... |
ORPHA:91139 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria |
OMIM:618857 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... |
OMIM:248190 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Demen... |
OMIM:277400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... |
ORPHA:284426 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ... |
ORPHA:36412 |
Legionnaires Disease |
|
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Pancreatitis, An... |
ORPHA:549 |
Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Increased inflammatory re... |
ORPHA:183 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... |
OMIM:241200 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy |
OMIM:314300 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Low-set ears, Posteriorly rotated ears, Abnormal social behavior |
ORPHA:444002 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Renal insufficiency |
ORPHA:2165 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M... |
ORPHA:99845 |
Meningococcal Meningitis |
|
Renal insufficiency, Skin rash, Infectious encephalitis, Irritability, Anorexia |
ORPHA:33475 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
Cryoglobulinemic Vasculitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti... |
ORPHA:91138 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia |
OMIM:617661 |
Systemic Capillary Leak Syndrome |
|
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Myocarditis, Peric... |
ORPHA:188 |
Kleefstra Syndrome |
|
Self-injurious behavior, Vesicoureteral reflux, Renal insufficiency, Self-mutilation, Agenesis of... |
ORPHA:261494 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Low-set ears, Elevated circulating hepatic trans... |
OMIM:208085 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency |
ORPHA:3222 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
Hsd10 Disease |
|
Hearing impairment, Abnormal social behavior |
ORPHA:391417 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia |
ORPHA:2479 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Confusion, Osteomyelitis, Re... |
ORPHA:36234 |
Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Agenesis of corpus callosum, Myoglob... |
ORPHA:228308 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency, Encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:220497 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Multiple... |
OMIM:613095 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased circulating ferritin concentration, Decreased HDL cholesterol concent... |
ORPHA:470 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Lead Poisoning |
|
Chronic kidney disease, Depression, Memory impairment, Skin rash, Renal tubular dysfunction, Atte... |
ORPHA:330015 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Depression, Vesicoureteral reflux, Renal insufficiency, Agenesis of corpus callosum, Irritability... |
ORPHA:96147 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... |
OMIM:248250 |
Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Cognitive impairment, Micropenis |
OMIM:615994 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Ataxia |
OMIM:249310 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Self-injurious behavior, Depression, Stage 5 chronic kidney disease, Rena... |
ORPHA:805 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Eleva... |
ORPHA:79318 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Polydipsia |
ORPHA:320 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Mercury Poisoning |
|
Confusion, Acute kidney injury, Interstitial pneumonitis, Anorexia |
ORPHA:330021 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... |
OMIM:214500 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur... |
OMIM:615559 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... |
ORPHA:93111 |
Helix Syndrome |
|
Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria |
OMIM:617671 |
Ethylene Glycol Poisoning |
|
Confusion, Renal insufficiency, Renal tubular dysfunction, Hematuria, Euphoria, Decreased urine o... |
ORPHA:31826 |
Scrub Typhus |
|
Renal insufficiency, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
Uremic Pruritus |
|
Chronic kidney disease, Depression, Inflammatory abnormality of the skin, Stage 5 chronic kidney ... |
ORPHA:94059 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria |
ORPHA:324525 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:95409 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme concentration, Eleva... |
ORPHA:3124 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Acute infectious pneumonia |
ORPHA:140896 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterol... |
ORPHA:79259 |
Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Renal insufficiency |
ORPHA:27 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:167 |
Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Renal insufficiency |
OMIM:602152 |
Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Encephalocele, Nephronophthisis |
OMIM:611560 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... |
ORPHA:275761 |
Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria |
OMIM:278300 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Lateral ventricle dilatation, Nephronophthisis |
OMIM:608629 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Cognitive impairment, Dementia, Communicating hydrocep... |
ORPHA:25 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia |
OMIM:614922 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Hemolytic anemia, Splenomeg... |
OMIM:618935 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Nephrolithiasis, Hydrocephalus, Conjunctivitis |
OMIM:217090 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
Prader-Willi Syndrome |
|
Impaired pain sensation, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabe... |
OMIM:176270 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis, Hydrocephalus |
OMIM:615630 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease, Encephalocele |
OMIM:612285 |
Lujo Hemorrhagic Fever |
|
Mental deterioration, Oliguria, Confusion, Renal insufficiency, Skin rash, Maculopapular exanthem... |
ORPHA:319213 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria |
ORPHA:330001 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Hydrocephalus, Renal insufficiency, Encephalocele |
ORPHA:2318 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Agenesis of corpus callosum, Myoglobinuria, Hydr... |
ORPHA:157 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Boutonneuse Fever |
|
Maculopapular exanthema, Renal insufficiency, Skin rash |
ORPHA:83313 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu... |
OMIM:263200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... |
OMIM:137940 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, At... |
OMIM:127550 |
Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
Immunoglobulin A Vasculitis |
|
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl... |
ORPHA:761 |
Liddle Syndrome 1 |
|
Renal insufficiency |
OMIM:177200 |
Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Renal insufficiency, Dysphagia, Arthritis |
ORPHA:220393 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Behçet Disease |
|
Memory impairment, Orchitis, Confusion, Recurrent aphthous stomatitis, Renal insufficiency, Irrit... |
ORPHA:117 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo... |
ORPHA:90291 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ... |
OMIM:611209 |
Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Confusion, Skin rash, Increased inflammatory response, Decreased urine output |
ORPHA:542323 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Renal dysplasia |
ORPHA:85321 |
Hand-Foot-Genital Syndrome |
|
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... |
OMIM:140000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal insufficiency, Agenesis of corpus callosum, Hydronephrosis, Long-chain dicarboxylic aciduri... |
OMIM:608836 |
Distal Deletion 10Q |
|
Acute kidney injury, Functional abnormality of the bladder, Lateral ventricle dilatation, Horsesh... |
ORPHA:96148 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Hyperechogenic pancreas, Abn... |
ORPHA:456312 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:1563 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Gait ataxia, Dysmetria, Distal... |
OMIM:606721 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuri... |
OMIM:219800 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Mental deterioration, Memory impairment, Ketonuria, Methylmalonic aciduria, Dementia, Renal insuf... |
ORPHA:79282 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... |
ORPHA:3337 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... |
ORPHA:322 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Confusion, Decreased gl... |
ORPHA:340 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Neuroblastoma |
|
Anemia, Elevated circulating catecholamine level, Thrombocytopenia, Increased circulating ferriti... |
ORPHA:635 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Cognitive impairment, Hemolytic-uremic syndrome |
OMIM:235400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
Addison Disease |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:85138 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... |
ORPHA:728 |
Primary Sjögren Syndrome |
|
Depression, Arteritis, Dementia, Parotitis, Chronic active hepatitis, Chronic hepatitis, Renal in... |
ORPHA:289390 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Occipital encephalocele, Lateral ventricle dilatation, Hyperechog... |
ORPHA:397715 |
Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Spina bifida, Nephrotic syndrome |
OMIM:161200 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:242900 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,... |
ORPHA:85443 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
Giant Cell Arteritis |
|
Depression, Renal insufficiency, Hematuria, Arthritis, Anorexia, Pericarditis |
ORPHA:397 |
Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia |
ORPHA:293978 |
Spondyloenchondrodysplasia |
|
Chronic kidney disease, Pneumonia, Hepatitis, Abnormal lateral ventricle morphology, Skin rash, H... |
ORPHA:1855 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233710 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... |
ORPHA:1018 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Renal insufficiency, Panniculitis, Ski... |
ORPHA:228123 |
Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:99880 |
Fabry Disease |
|
Nephropathy, Depression, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal re... |
ORPHA:324 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... |
OMIM:301111 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, Liver abscess |
OMIM:233690 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Encephalocele, Renal cyst, Hydrocephalus |
OMIM:608091 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232240 |
Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:143 |
Fabry Disease |
|
Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency |
OMIM:301500 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Renal insufficiency, Hydrocep... |
ORPHA:1454 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i... |
ORPHA:293173 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... |
ORPHA:391641 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... |
OMIM:216360 |
Senior-Loken Syndrome 8 |
|
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... |
OMIM:616307 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal renal tubule morphology, Renal insufficiency, Hepatitis |
ORPHA:440713 |
Igg4-Related Pachymeningitis |
|
Nephritis, Mental deterioration, Lymphadenitis, Parotitis, Confusion, Pancreatitis, Sinusitis, Dy... |
ORPHA:449427 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
Waldenström Macroglobulinemia |
|
Memory impairment, Renal insufficiency, Anorexia |
ORPHA:33226 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Lymphadenitis |
OMIM:618886 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent pneumonia, Recurrent urinary tract infection... |
ORPHA:731 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis |
OMIM:610688 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy |
ORPHA:86818 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency |
OMIM:251290 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Refsum Disease |
|
Renal insufficiency |
ORPHA:773 |
Relapsing Fever |
|
Hematuria, Acute kidney injury, Abnormality of the urinary system |
ORPHA:91547 |
Sifrim-Hitz-Weiss Syndrome |
|
Micropenis, Vesicoureteral reflux, Renal insufficiency |
OMIM:617159 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr... |
ORPHA:2552 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Partial agenesis of the corpus callosum, Renal insufficiency |
OMIM:617478 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Hypospadias, Renal dysplasia, Renal insufficiency |
ORPHA:96179 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... |
ORPHA:79408 |
Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Glomerul... |
ORPHA:900 |
Cocaine Intoxication |
|
Acute kidney injury, Hematuria, Proteinuria, Delirium, Glomerulonephritis, Tubulointerstitial nep... |
ORPHA:90068 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Abnormality of the urethra, Renal insufficiency, Pancreatitis, Dysphagia, Conjunctivi... |
ORPHA:537 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Pancreatitis, Methylmalonic aciduria |
OMIM:251000 |
Avian Influenza |
|
Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis |
ORPHA:454836 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... |
ORPHA:2237 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... |
ORPHA:1830 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst |
OMIM:208500 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias |
OMIM:300661 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Proteinuria, Nephrotic syndro... |
OMIM:617303 |
Arima Syndrome |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Occipital meningocele, Renal sodium... |
OMIM:243910 |
Joubert Syndrome 5 |
|
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... |
OMIM:610188 |
Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
Zygomycosis |
|
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit... |
ORPHA:73263 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Inflammation of the large intestine, Renal insufficiency |
OMIM:203300 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Hepatomegaly, ... |
OMIM:306400 |
Erdheim-Chester Disease |
|
Polydipsia, Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Dysuria |
ORPHA:35687 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Listeriosis |
|
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Irritabi... |
ORPHA:533 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis |
OMIM:219090 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Agel Amyloidosis |
|
Depression, Stage 5 chronic kidney disease, Proteinuria, Keratoconjunctivitis sicca, Deficit in p... |
ORPHA:85448 |
Pyomyositis |
|
Myositis, Renal insufficiency, Recurrent cutaneous abscess formation |
ORPHA:764 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... |
ORPHA:90324 |
Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Pancreatitis, Dysphagia, Conjunctivitis, Dysuria |
ORPHA:36426 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... |
OMIM:251300 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney |
ORPHA:140952 |
Diaphanospondylodysostosis |
|
Low-set ears, Abnormal liver lobulation, Polymicrogyria |
OMIM:608022 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... |
OMIM:619991 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
Martin-Probst Syndrome |
|
Proteinuria, Chordee, Renal insufficiency, Micropenis |
OMIM:300519 |
Cockayne Syndrome Type 1 |
|
Proteinuria, Conjunctivitis, Renal insufficiency, Uveitis |
ORPHA:90321 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Renal Fanconi synd... |
OMIM:276700 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease |
OMIM:620366 |
Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Pancreatic islet cell adenoma, Adrenal ph... |
ORPHA:892 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... |
OMIM:619743 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... |
ORPHA:447 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:309000 |
Calciphylaxis |
|
Stage 5 chronic kidney disease |
ORPHA:280062 |
Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency |
ORPHA:160 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentration |
ORPHA:35706 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Renal insufficiency, Otitis media, Chronic active hepatitis, Tubu... |
OMIM:203800 |
Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Pyelonephritis, Renal ... |
OMIM:181270 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Pneumonia, Abnormality of the urinary system, Abnormal fear-induced beha... |
ORPHA:353281 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Renal insufficiency |
ORPHA:469 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes mellitus |
ORPHA:273 |
Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Mental deterioration, Malar rash, Renal insufficienc... |
ORPHA:191 |
Familial Mediterranean Fever |
|
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton... |
OMIM:249100 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Bilateral sensorineural hearing impairment, Cholecystitis, Abnormal social behavior |
ORPHA:309256 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic... |
OMIM:301068 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, At... |
OMIM:616580 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Bilateral sensorineural hearing impairment, Cholecystitis, Abnormal social behavior |
ORPHA:309263 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Septic arthritis, Fasciitis, Osteomyelitis, Abnormal emotion, Short atten... |
ORPHA:642 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Agenesis of corpus callosum, Proteinuria, Hydr... |
ORPHA:2750 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
48,Xxxy Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Chronic otitis media, Abnormal social behavior |
ORPHA:96263 |
Marburg Hemorrhagic Fever |
|
Uveitis, Confusion, Renal insufficiency, Skin rash, Orchitis, Aggressive behavior, Pancreatitis, ... |
ORPHA:99826 |
Tafro Syndrome |
|
Renal insufficiency |
ORPHA:457077 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art... |
ORPHA:3261 |
Fanconi Anemia |
|
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... |
ORPHA:84 |
Cockayne Syndrome A |
|
Dementia, Renal insufficiency, Proteinuria, Micropenis, Normal pressure hydrocephalus |
OMIM:216400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Depression, Inflammatory ab... |
ORPHA:95455 |
Primary Sclerosing Cholangitis |
|
Depression, Hepatitis, Renal insufficiency, Pancreatitis, Ulcerative colitis, Thyroiditis, Uveitis |
ORPHA:171 |
Galloway-Mowat Syndrome 3 |
|
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... |
OMIM:617729 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Cupped ear, Sensorineural hearing impairment, Abnormal social behavior, Mi... |
ORPHA:93932 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Anorexia |
ORPHA:79430 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Depression, Horseshoe kidney, Vesico... |
ORPHA:110 |
Acute Liver Failure |
|
Acute kidney injury, Depression, Hepatitis, Confusion, Emotional lability, Skin rash, Euphoria, A... |
ORPHA:90062 |
Multiple Myeloma |
|
Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder |
ORPHA:29073 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... |
OMIM:614748 |
Sarcoidosis |
|
Hepatic failure, Decreased liver function, Hemolytic anemia, Leukopenia, Portal hypertension, Inc... |
ORPHA:797 |
Metachromatic Leukodystrophy, Adult Form |
|
Bilateral sensorineural hearing impairment, Neoplasm of the gallbladder, Cholecystitis, Abnormal ... |
ORPHA:309271 |
African Trypanosomiasis |
|
Myelitis, Myelopathy, Keratitis, Renal insufficiency, Irritability, Aggressive behavior, Delirium... |
ORPHA:3385 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Pneumonia, Abnormality of the urinary system, Abnormal fear-induced beha... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Pneumonia, Abnormality of the urinary system, Abnormal fear-induced beha... |
ORPHA:353277 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure, Enterocolitis |
ORPHA:90051 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis |
OMIM:619351 |
Williams Syndrome |
|
Overfriendliness, Chronic otitis media, Depression, Renal insufficiency, Renal duplication, Atten... |
ORPHA:904 |
Floating-Harbor Syndrome |
|
Abnormal temper tantrums, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage... |
ORPHA:2044 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Mosaic Trisomy 9 |
|
Low-set ears, Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts |
OMIM:267010 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Proteinuria, Micropenis, Renal insufficiency |
OMIM:133540 |
Pearson Syndrome |
|
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria, Dysphagia |
ORPHA:699 |
Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, R... |
OMIM:194050 |
Hellp Syndrome |
|
Hemoglobinuria, Proteinuria, Acute kidney injury |
ORPHA:244242 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... |
OMIM:266920 |
Degcags Syndrome |
|
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... |
OMIM:619488 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Hearing impairment, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, ... |
ORPHA:646 |
Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Polymicrogyria, Splenic cyst, Pancreatitis, Posteriorly rotated ears |
OMIM:620371 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... |
ORPHA:97214 |
Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... |
ORPHA:2036 |
Cranioectodermal Dysplasia 2 |
|
Renal cyst, Recurrent pneumonia, Cholangitis, Renal insufficiency |
OMIM:613610 |
Digeorge Syndrome |
|
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Renal insufficiency, Recu... |
OMIM:188400 |
Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Attention deficit hyper... |
ORPHA:199 |
Townes-Brocks Syndrome |
|
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Agenesis of corpus callosum, Multip... |
ORPHA:857 |
Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Myocarditis, Restlessness, Acute pancreatitis |
ORPHA:466677 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... |
ORPHA:90349 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Renal insufficiency, Vesicoureter... |
OMIM:107480 |
Exercise-Induced Malignant Hyperthermia |
|
Delirium, Confusion, Acute kidney injury, Oliguria |
ORPHA:466650 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Reduced social reciprocity, Hypogonadotrop... |
ORPHA:177907 |
Leptospirosis |
|
Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Anore... |
ORPHA:509 |
Blau Syndrome |
|
Nephropathy, Posterior uveitis, Keratitis, Stage 5 chronic kidney disease, Clear cell renal cell ... |
ORPHA:90340 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Yellow Fever |
|
Acute kidney injury, Anuria, Renal insufficiency, Skin rash, Acute pancreatitis |
ORPHA:99829 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Hearing impairment, Recurrent otitis media, Decreased response to growth horm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Hearing impairment, Recurrent otitis media, Decreased response to growth horm... |
ORPHA:363958 |
Sotos Syndrome |
|
Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obstruction, P... |
ORPHA:821 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Oroticaciduria, Stage 5 chronic kidney disease, Pancreatitis |
OMIM:222700 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... |
ORPHA:401973 |
Costello Syndrome |
|
Renal insufficiency, Hydrocephalus |
OMIM:218040 |
Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Abnormal cortical gyration, Abnormal social behavior |
ORPHA:314647 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Large earlobe, Abnormal social behavior |
ORPHA:1675 |
Alström Syndrome |
|
Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Functional abnormali... |
ORPHA:64 |