Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Polyuria |
OMIM:222100 |
Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... |
ORPHA:35710 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... |
ORPHA:293964 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
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 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Polyuria |
OMIM:613677 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ... |
OMIM:613845 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67046 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... |
ORPHA:223 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin... |
ORPHA:6 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Polyuria, Megacystis |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Polyuria, Megacystis |
OMIM:304800 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
Central Diabetes Insipidus |
|
Anorexia, Polydipsia, Nocturia |
ORPHA:178029 |
Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
Short Stature Due To Ghsr Deficiency |
|
Abnormality of body weight, Hypoglycemia, Decreased body weight |
ORPHA:314811 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... |
OMIM:613090 |
Neonatal Hemochromatosis |
|
Abnormal localization of kidney, Increased circulating iron concentration, Hypoglycemia, Increase... |
ORPHA:446 |
Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Webb-Dattani Syndrome |
|
Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia |
OMIM:615926 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hypoglycemia, Hyponatremia, Renal salt wasting, Hyperkalemia |
OMIM:614736 |
Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
Helix Syndrome |
|
Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria |
OMIM:617671 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia, Failure to thrive |
OMIM:143860 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was... |
ORPHA:199343 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Failure to thrive, Hypoglycemia, Premature skin wrinkling, Hyperalaninemia |
OMIM:617950 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... |
ORPHA:213 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Tempi Syndrome |
|
Increased hematocrit, Facial erythema, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... |
OMIM:602522 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria |
OMIM:620152 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, ... |
ORPHA:94086 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Polydipsia |
ORPHA:320 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was... |
OMIM:612780 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Phenylketonuria |
|
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Dr... |
OMIM:261600 |
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Dry skin, Renal dysplasia |
OMIM:218650 |
Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... |
ORPHA:94093 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Dry skin, Failure to thrive |
ORPHA:1954 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Polyuria, Nephrolithiasis |
OMIM:617994 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... |
ORPHA:90041 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Failure to thrive, Hypoglycemia |
OMIM:610090 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Thrombocytopenia, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67048 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase... |
OMIM:263400 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia |
ORPHA:171706 |
Acquired Ichthyosis |
|
Erythema, Renal insufficiency, Dry skin |
ORPHA:454 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529808 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Mody |
|
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... |
ORPHA:552 |
Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational ag... |
OMIM:616026 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypercalciuria, Polyuria |
OMIM:239200 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive |
OMIM:264350 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
Propionic Acidemia |
|
Hyperammonemia, Organic aciduria, Hypoglycemia |
ORPHA:35 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts |
OMIM:609886 |
Familial Renal Glucosuria |
|
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections |
ORPHA:69076 |
Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Dicarboxylic aciduria, Dicarboxylic acid... |
ORPHA:289504 |
Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... |
OMIM:601678 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome |
ORPHA:69061 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... |
ORPHA:556037 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Pallor, Reactive hyp... |
ORPHA:276556 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... |
OMIM:248250 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276580 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... |
ORPHA:2089 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Dry skin, Anemia, Increased body mass index |
OMIM:614450 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... |
OMIM:598500 |
Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... |
ORPHA:411634 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Diarrhea 13 |
|
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia |
OMIM:620357 |
Hereditary Coproporphyria |
|
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... |
ORPHA:79273 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circ... |
OMIM:619386 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ... |
ORPHA:556030 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Polydipsia |
ORPHA:251274 |
Erythrokeratodermia Variabilis |
|
Erythema, Weight loss, Diabetes mellitus, Dry skin |
ORPHA:317 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Pallor, Reactive hypoglycemia, Increased body weight,... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ... |
ORPHA:276575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Increased urin... |
OMIM:619048 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia |
OMIM:620423 |
Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Polyuria, Nocturia, R... |
OMIM:263800 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Hypoglycemia, Lymphopenia, Leukopenia, Petechia... |
OMIM:617053 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Erythema, Scaling skin, Palmoplantar scaling skin, Dry skin |
ORPHA:530838 |
Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterolemia, Dry skin,... |
OMIM:618156 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema |
ORPHA:3406 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... |
OMIM:191800 |
Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... |
ORPHA:79237 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... |
ORPHA:3337 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Failure to thrive, Hypernatremia |
OMIM:615508 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Hypoglycemia, Dry skin, Renal insufficiency, Hyperuricemia,... |
ORPHA:95409 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Inc... |
OMIM:617872 |
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 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... |
OMIM:162000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatem... |
ORPHA:263455 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Facial erythema |
OMIM:212360 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperlipidemia, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hyponatremia, Ketotic hypo... |
ORPHA:361 |
Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... |
OMIM:241200 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... |
OMIM:617575 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... |
ORPHA:79096 |
Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
Uremic Pruritus |
|
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Dry skin, Stage 5 chronic kidney... |
ORPHA:94059 |
Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... |
ORPHA:100924 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Dry skin, Leukopenia, Thrombocytopenia |
OMIM:618116 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Dry skin, Failure to thrive |
ORPHA:300536 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Hyperbilir... |
ORPHA:1667 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... |
ORPHA:427 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology |
ORPHA:839 |
Classic Mycosis Fungoides |
|
Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Dry skin, Macrocyti... |
ORPHA:199299 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... |
ORPHA:3467 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Arima Syndrome |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... |
OMIM:243910 |
Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Obesity, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:3085 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity, Dry skin |
ORPHA:1035 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Elevated circulating propiony... |
OMIM:251110 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... |
ORPHA:2088 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... |
ORPHA:411536 |
Alg8-Cdg |
|
Failure to thrive, Premature skin wrinkling, Hyponatremia, Cutis laxa, Thrombocytopenia, Anemia, ... |
ORPHA:79325 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
Snakebite Envenomation |
|
Erythema, Acute kidney injury, Ecchymosis, Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Hyperglycinemia, Neonatal death, Lactica... |
OMIM:245400 |
Omenn Syndrome |
|
Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinoph... |
ORPHA:39041 |
Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Cholera |
|
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... |
ORPHA:173 |
Mehmo Syndrome |
|
Micropenis, Obesity, Small for gestational age, Hypoglycemia |
OMIM:300148 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Ketonuria, Glycosuria, Beta ... |
OMIM:227810 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Neonatal hypoglycemia, Premature skin wrinkling, Microphallus, Abdominal obesity |
ORPHA:631 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, R... |
OMIM:611590 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Dry skin, Decreased mean corpuscular volume, Small for gestational age |
OMIM:616943 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Failure to thrive, Acute... |
OMIM:210200 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia |
OMIM:614739 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis |
ORPHA:369929 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Hyperechogenic kidneys, Dry s... |
OMIM:614576 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Neonatal hypoglycemia, Small for gestational age, Hypoglycemia, Decreased body weight |
ORPHA:231140 |
Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hypoglycemia, Panc... |
OMIM:606054 |
Addison Disease |
|
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Dry skin, Thiamine-... |
ORPHA:85138 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level |
OMIM:177735 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... |
OMIM:618120 |
Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hypoalbuminemia, Failure to thrive, Recurrent urinary tra... |
OMIM:619487 |
Shigellosis |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hypoglycemia, Urethritis, Failure to thri... |
ORPHA:810 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... |
OMIM:219800 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Overweight, Mildly elevated creatine kinase |
ORPHA:486815 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disea... |
OMIM:251000 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity |
ORPHA:384 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
Atelis Syndrome 1 |
|
Anemia, Dry skin, Leukopenia, Thrombocytopenia |
OMIM:620184 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Obesity, Organic aciduria, Abnormal circulating acylcarnitine concentration |
OMIM:620191 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin, Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Obesity, Renal insufficiency, Leukocytosis, Hypocalcemia, Hyponatre... |
ORPHA:247353 |
Distal Duplication 6P |
|
Hydronephrosis, Dry skin, Renal hypoplasia, Abnormality of the urinary system |
ORPHA:1745 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:99880 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Xanthinuria, Type Ii |
|
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... |
OMIM:619355 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Dry skin, Cutis laxa, Failure to thrive |
OMIM:612379 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria, Neonatal hypo... |
OMIM:606407 |
Xanthinuria, Type I |
|
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... |
OMIM:278300 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Renal tubular acidosis, Dry skin |
ORPHA:79155 |
Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:143 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Horseshoe kidney, Increased body weight, Micropenis, Dry skin |
OMIM:300860 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:603553 |
Bachmann-Bupp Syndrome |
|
Dry skin, Large for gestational age, Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hy... |
OMIM:619046 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Failure to thrive, Dry skin, Splenomegaly, Decreased serum zinc, Perianal eryt... |
OMIM:201100 |
Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
Sjögren-Larsson Syndrome |
|
Erythema, Dry skin |
ORPHA:816 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Renal steatosis, Low plasma citrulline, Fasting hypoglycemia, Impaired g... |
OMIM:261680 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux |
ORPHA:85285 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... |
OMIM:617913 |
Tangier Disease |
|
Dry skin, Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentrat... |
OMIM:205400 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevat... |
OMIM:617388 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni... |
ORPHA:171876 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting, Failure to thrive |
OMIM:300200 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Neona... |
ORPHA:90791 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin |
ORPHA:2101 |
Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elev... |
ORPHA:42 |
Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatre... |
ORPHA:31824 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... |
OMIM:616329 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Hydronephrosis, Decreased serum... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Renal cortical cysts, Failure to thrive, Scaling skin |
OMIM:609180 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Sheehan Syndrome |
|
Hypoglycemia, Dry skin, Obesity, Pallor, Hyponatremia, Hyposthenuria, Normochromic anemia |
ORPHA:91355 |
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Neonatal death,... |
OMIM:620300 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity |
OMIM:615996 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestational age |
OMIM:614702 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
ORPHA:90038 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Dry skin, Hypocalcemia, Hypercalciuria, Hype... |
ORPHA:428 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dry skin, Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Wolfram Syndrome |
|
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D... |
ORPHA:3463 |
Netherton Syndrome |
|
Aminoaciduria, Dry skin, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Cutis laxa, Scaling skin |
ORPHA:2269 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... |
OMIM:210210 |
Hatipoglu Immunodeficiency Syndrome |
|
Failure to thrive, Dry skin, Pancytopenia, Petechiae, Anemia, Hypospadias |
OMIM:620331 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H... |
OMIM:605911 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... |
OMIM:619381 |
Recessive X-Linked Ichthyosis |
|
Dry skin |
ORPHA:461 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia |
ORPHA:2158 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... |
ORPHA:71212 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis, Redundant skin |
ORPHA:251046 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia |
OMIM:615453 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Weig... |
ORPHA:134 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria |
ORPHA:537 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Insulin-resistant d... |
ORPHA:769 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Medium chain dicarb... |
OMIM:201450 |
Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Splenomegaly, Hypoglycemia |
OMIM:261750 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly |
|
Dry skin |
OMIM:600906 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Failure to thrive, Dry skin, Renal insufficiency, Proteinuria, Cachexia |
OMIM:610965 |
Solitary Fibrous Tumor |
|
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, R... |
ORPHA:2126 |
Laron Syndrome |
|
Hypoglycemia, Hypoplasia of penis, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:246900 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity |
ORPHA:525731 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618835 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Hepatosp... |
ORPHA:275761 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618839 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Nephrolithiasis |
OMIM:300323 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... |
OMIM:276700 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Increased urinary glycerol, Pallor, Hyperuricemia, Hyp... |
ORPHA:348 |
Legionnaires Disease |
|
Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia |
ORPHA:549 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Neutropenia, Hypospadias, Small for gestational age |
OMIM:618253 |
Erdheim-Chester Disease |
|
Hydronephrosis, Polydipsia, Dysuria, Renal insufficiency |
ORPHA:35687 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability |
OMIM:614227 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dry skin, Hypertriglyceridemia |
OMIM:618010 |
Peroxisome Biogenesis Disorder 14B |
|
Urinary incontinence, Dry skin |
OMIM:614920 |
Lamellar Ichthyosis |
|
Dry skin, Renal insufficiency, Lack of skin elasticity |
ORPHA:313 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hyperkalemia, Hypernatriuria, Failure to thrive, Hyponatremia, Weight loss, Urogenita... |
ORPHA:90794 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Hypoglycemia |
OMIM:201910 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... |
OMIM:212140 |
Panhypophysitis |
|
Polydipsia, Hyposthenuria |
ORPHA:95513 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine ki... |
OMIM:619055 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
Glutaric Acidemia I |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... |
OMIM:231670 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
Adenohypophysitis |
|
Hyponatremia, Pallor, Hyposthenuria, Normochromic anemia |
ORPHA:95512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia, Hypoglycemia |
OMIM:620137 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... |
OMIM:618061 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hypoglycemia, Renal tubular acidosis, Splenomegaly, Elevated circulating creat... |
ORPHA:264580 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Recurrent hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Neonatal hypogl... |
ORPHA:79644 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death |
OMIM:613390 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Fasting hypoglycemia, Urethral valve, Hypospadias, Sma... |
OMIM:180860 |
Wolfram Syndrome 1 |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... |
OMIM:222300 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Scaling skin, Dry skin |
OMIM:614457 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Hartsfield Syndrome |
|
Micropenis, Hypospadias, Hypernatremia |
OMIM:615465 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... |
ORPHA:79233 |
Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Pallor, Hyponatremia, Decrease... |
ORPHA:544482 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Renal tubular acidosis, Proteinuria, Sa... |
ORPHA:358 |
Whipple Disease |
|
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Anemia |
ORPHA:3452 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... |
ORPHA:168558 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Patent urachus, Small for gestational age, Failure to thrive |
OMIM:618252 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Renal tubular acidosis, Hypoglycemia |
ORPHA:156 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia |
OMIM:618958 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... |
ORPHA:289548 |
Acute Intermittent Porphyria |
|
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... |
ORPHA:79276 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... |
OMIM:608836 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Dry skin, Pancytopenia, Leukopenia, Macrocytic anemia, Urethral stricture, Neutr... |
OMIM:613990 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ... |
ORPHA:91500 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... |
ORPHA:731 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... |
ORPHA:49041 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia |
ORPHA:90790 |
Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Redundant skin, ... |
ORPHA:79324 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... |
ORPHA:99845 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Cachexia, Hypospadias, Failure to thrive |
ORPHA:217346 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Hydronephrosis, Anemia, Hypoplasia of penis, Hypospadias, Hypoproteinemia, Dia... |
ORPHA:2315 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Hydronephrosis, Decreased serum zinc, Duplicated collecting system, Dermal tr... |
ORPHA:541423 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Dry skin, Abnormal circulating thyroglobulin concentration, Overweight |
ORPHA:99832 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Dry skin, Insulin-resistant diabetes mellitus |
OMIM:268020 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hypoketotic hypoglycemia, Hy... |
OMIM:609015 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity... |
ORPHA:73272 |
Congenital Myopathy 19 |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Pallor, Normochromic anemia |
ORPHA:95613 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Dry skin |
OMIM:620502 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... |
OMIM:232200 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... |
OMIM:618183 |
D-Glyceric Aciduria |
|
Aminoaciduria, Failure to thrive, Hypoglycemia, Micropenis, Elevated circulating D-glyceric conce... |
OMIM:220120 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hypoketotic hypoglycemia, Decr... |
ORPHA:228305 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinas... |
ORPHA:79240 |
Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Hyperammonemi... |
OMIM:255120 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hypoketotic hypoglycemia, Stag... |
ORPHA:157 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat... |
OMIM:617049 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hypoglycemia, Hyper... |
OMIM:229600 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Redundant neck skin, Elevated circulating creatine kinase conc... |
OMIM:301056 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections |
OMIM:619218 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
Koolen-De Vries Syndrome |
|
Dry skin, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospa... |
ORPHA:96169 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Small for gestational age, Failure to thrive |
OMIM:609757 |
Refsum Disease |
|
Dry skin, Renal insufficiency, Splenomegaly |
ORPHA:773 |
Schopf-Schulz-Passarge Syndrome |
|
Dry skin |
OMIM:224750 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Obesity, Vesicoureteral r... |
OMIM:620654 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... |
ORPHA:26791 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Hyponatremia, Severe B... |
ORPHA:293978 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elevated circulating creatine kinase concent... |
OMIM:212138 |
Temple Syndrome |
|
Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia |
ORPHA:254516 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Large for gestational age |
ORPHA:226313 |
Igg4-Related Aortitis |
|
Hydronephrosis, Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentra... |
ORPHA:449400 |
Noonan Syndrome 5 |
|
Dry skin, Large for gestational age |
OMIM:611553 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin |
ORPHA:177 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammo... |
ORPHA:20 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia, Hyperammonemia, Abnormality o... |
ORPHA:391428 |
Immunodeficiency 10 |
|
Hypoglycemia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abno... |
OMIM:612783 |
Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
Radio-Tartaglia Syndrome |
|
Dry skin, Obesity, Striae distensae |
OMIM:619312 |
Insulinoma |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Increa... |
ORPHA:97279 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Myoglobinuria, Hypoketotic hypoglycemia, Dicarboxylic aciduria |
OMIM:231530 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
Prolidase Deficiency |
|
Erythema, Skin ulcer, Dry skin, Splenomegaly, Recurrent cystitis |
ORPHA:742 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,... |
ORPHA:534 |
Sézary Syndrome |
|
Dry skin, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Syndromic Diarrhea |
|
Renal hypoplasia, Lymphopenia, Dry skin, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, ... |
ORPHA:84064 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux, Decreased body weight |
OMIM:618265 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, ... |
OMIM:251880 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Hypoket... |
ORPHA:228308 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Ketotic hypoglycemia, Hyperalaninemia, Failure to thrive, Dicarboxylic aciduria |
OMIM:620646 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin, Eosinophilia |
OMIM:618282 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Dry skin |
OMIM:619087 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Dry skin, Vesicoureteral reflux, Hydroneph... |
OMIM:610443 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, 4-Hydro... |
OMIM:617156 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hypoglycemia, Hyperammonemia, Hydronephrosis, Hypercholesterolemia |
OMIM:620454 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia |
ORPHA:5 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Dry skin, Facial erythema |
OMIM:308800 |
Acrodermatitis Enteropathica |
|
Erythema, Skin ulcer, Failure to thrive, Dry skin, Weight loss |
ORPHA:37 |
Recon Progeroid Syndrome |
|
Anemia, Dry skin, Scaling skin, Thrombocytopenia |
OMIM:620370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... |
ORPHA:159 |
Fucosidosis |
|
Oligosacchariduria, Failure to thrive, Dry skin, Splenomegaly, Petechiae, Glycopeptiduria, Vacuol... |
OMIM:230000 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... |
OMIM:201810 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi... |
OMIM:232220 |
Juvenile Dermatomyositis |
|
Erythema, Skin ulcer, Dry skin, Elevated circulating creatine kinase concentration, Weight loss, ... |
ORPHA:93672 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin, Vesicoureteral reflux |
OMIM:618797 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Dry skin, Hypospadias, Failure to thrive |
OMIM:613026 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Obesity, Hyponatremia |
OMIM:620155 |
Agel Amyloidosis |
|
Dry skin, Stage 5 chronic kidney disease, Proteinuria, Cutis laxa, Abnormal spleen morphology |
ORPHA:85448 |
Alg11-Cdg |
|
Dry skin, Failure to thrive |
ORPHA:280071 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... |
OMIM:201475 |
Leopard Syndrome 3 |
|
Dry skin |
OMIM:613707 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Hypoglycemia, Splenomegaly, Excessive wrinkled skin, Elevated circulating crea... |
OMIM:608779 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Adiposis Dolorosa |
|
Dry skin, Obesity |
ORPHA:36397 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypoglycemia, Hypocalcemia, Micropenis, Hypospadias, Small for gestational age |
OMIM:607143 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin |
OMIM:618535 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... |
ORPHA:2237 |
Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Hypoglycemia |
OMIM:616483 |
Leigh Syndrome |
|
Generalized aminoaciduria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Renal tubular... |
ORPHA:506 |
Pili Torti-Onychodysplasia Syndrome |
|
Dry skin |
ORPHA:2890 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia, Dicarboxylic aciduria |
OMIM:611126 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:600649 |
Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet... |
OMIM:223360 |
Long-Olsen-Distelmaier Syndrome |
|
Hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:620609 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Neurogenic bladder |
OMIM:618527 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria, Hyperalaninemia |
OMIM:618329 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria |
ORPHA:188 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive |
OMIM:613735 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating glutaric acid concentration, Normochromic microcytic anemia, 3-Methylglutaco... |
ORPHA:66634 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia |
ORPHA:514 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Small for gestational age, Recurrent hypoglycemia |
OMIM:616817 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight |
ORPHA:391408 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Failure to thrive, Hypoglycemia |
ORPHA:35708 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Dry skin, Obesity, Decreased body weight, Overweight |
OMIM:619229 |
Liver Disease, Severe Congenital |
|
Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Hypocalcemia, Elevated hepatic i... |
OMIM:619991 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney |
ORPHA:1764 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Dry skin, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... |
ORPHA:508542 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin |
OMIM:612281 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Elevated circulating palmitol... |
ORPHA:79282 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Stage 5 chronic kidney ... |
ORPHA:79259 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Dry skin, Anemia, Thrombocytopenia |
ORPHA:261323 |
Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Failure to thrive, Dry skin |
ORPHA:238468 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Dry skin, Redundant skin, Excessive wrinkled skin, Hydronephrosis |
ORPHA:1340 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Infection associated neutropenia, Renal insufficiency, 3-Methylglutaconic acidu... |
ORPHA:445038 |
Joubert Syndrome 37 |
|
Hydronephrosis, Obesity, Micropenis |
OMIM:619185 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Hypospadias, Small for gestational age, Microphallus |
ORPHA:397590 |
Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Erythema, Dilatation of the renal pelvis, Dry skin |
OMIM:620510 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin |
ORPHA:1028 |
Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Renal insufficiency, Dysphagia |
ORPHA:220393 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:618950 |
Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Thrombocytope... |
OMIM:611209 |
Holoprosencephaly |
|
Abnormality of the urinary system, Hypoglycemia, Failure to thrive in infancy, Abnormality of the... |
ORPHA:2162 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Long penis, Hyperglycemia, Hyperinsulinemia, Severe failure to thrive... |
OMIM:246200 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Failure to thrive, Hypoglycemia |
ORPHA:95496 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Cyclic neutropenia, Decreased glomerular filtra... |
OMIM:232240 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors, Enuresis |
ORPHA:293987 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Weight loss, Elevated circulating C-reactive prote... |
ORPHA:449395 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Dry skin, Abnormal circulating thyroglobulin conc... |
ORPHA:90674 |
Polyendocrine-Polyneuropathy Syndrome |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia |
OMIM:616113 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Dry skin, Hypocalcemia, Elevated circulating cr... |
ORPHA:466650 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Thrombocytopenia |
OMIM:616638 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Renal hy... |
ORPHA:1834 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme concentration or activity, Hypoglycemia |
ORPHA:79239 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Stage 5 chronic kidney disease, Cutis laxa, Nephronophthisis |
OMIM:614099 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Facial wrinkling, Dry skin, Gluc... |
OMIM:606721 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Redundant neck skin, Hydronephrosis, Abnormal ren... |
ORPHA:1655 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Fliedner-Zweier Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity |
OMIM:620511 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Splenomegaly, Redundant neck skin, Hydronephrosis, Micropenis, Hypoproteinemia |
OMIM:235255 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Thrombocytopenia, Hypertriglyceridemia, Anemia |
ORPHA:31150 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Nephrocalcinosis, Failure to thrive, Neutropenia |
OMIM:618005 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Micropenis, Hypospadias, Small for gestational age |
OMIM:616897 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Anemia, Dry skin, Truncal obesity |
ORPHA:2637 |
Dubowitz Syndrome |
|
Dry skin, Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblast... |
ORPHA:235 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Dry skin, Scaling skin, Small for gestational age |
OMIM:618419 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Palmoplantar scaling skin, Petech... |
ORPHA:499009 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hypoglycemia, Hyperammonemia, Elevat... |
ORPHA:480864 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis |
OMIM:619362 |
Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
Isolated Complex I Deficiency |
|
Proximal tubulopathy, Failure to thrive, Hypoglycemia, Increased serum pyruvate, Diabetes mellitus |
ORPHA:2609 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp... |
ORPHA:26793 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:618494 |
Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Increased urinary glycerol |
OMIM:229700 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... |
ORPHA:79404 |
Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... |
ORPHA:314588 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hypoglycemia, Hyperammonemia, Elevat... |
OMIM:616878 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Neonatal hypoglycemia, Scaling skin |
ORPHA:35173 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Failure to thrive, ... |
ORPHA:508 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dry skin, Small for gestational age, Urinary retention, Neutropenia |
OMIM:617799 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Hypoplasia of penis |
ORPHA:1812 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... |
ORPHA:469 |
ERI1-related disease |
|
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... |
OMIM:608739 |
Trisomy 13 |
|
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus |
ORPHA:3378 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Failure to thrive |
ORPHA:488613 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin |
OMIM:618373 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopeni... |
OMIM:612541 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Recurrent hypoglycemia |
OMIM:202200 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Dry skin, Vesicoureteral reflux, Neutropenia, Micropenis, Hypospadias |
ORPHA:163956 |
Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Small for gestational age |
OMIM:601675 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death |
OMIM:314390 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal tubular aci... |
ORPHA:2785 |
Diabetic Embryopathy |
|
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis |
ORPHA:364028 |
Noonan Syndrome 14 |
|
Lymphopenia, Dry skin |
OMIM:619745 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Failure to thrive, Redundant neck skin, Hydronephrosis, Elevated circulating long ... |
OMIM:214100 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Skin ulcer, Lymphopenia, Leukopenia, Dry skin, Renal insufficiency, Decreased ... |
ORPHA:289390 |
Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication, Large for gestational age, Thrombocytopenia |
OMIM:610733 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Hemolytic-uremic syndrome |
OMIM:235400 |
Eec Syndrome |
|
Dry skin, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Hypoplasia of the thym... |
ORPHA:1896 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Cockayne Syndrome B |
|
Failure to thrive, Dry skin, Renal insufficiency, Splenomegaly, Proteinuria, Severe failure to th... |
OMIM:133540 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Scaling skin |
OMIM:616295 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... |
ORPHA:2973 |
Trisomy 17P |
|
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis |
ORPHA:261290 |
Silver-Russell Syndrome |
|
Insulin resistance, Abnormality of the urinary system, Recurrent hypoglycemia, Failure to thrive ... |
ORPHA:813 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... |
ORPHA:31826 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Neonatal d... |
OMIM:124000 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydro... |
ORPHA:900 |
Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Failure to thrive, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cy... |
OMIM:618460 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Hypoglycemia |
OMIM:617190 |
Kanzaki Disease |
|
Aminoaciduria, Dry skin, Increased urinary O-linked sialopeptides, Petechiae |
OMIM:609242 |
Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Hypospadias |
OMIM:220210 |
Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency |
ORPHA:727 |
22Q11.2 Duplication Syndrome |
|
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus |
ORPHA:1727 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Failure to thrive, Polysplenia, Hypoglycemia, Failure to thrive in infancy, Spl... |
OMIM:619418 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Lacticaciduria |
OMIM:620451 |
Zttk Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Polyuria |
OMIM:617140 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Dry skin, Splenomegaly |
OMIM:607626 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Dry skin, Large for gestational age, Ureteropelvic junction obstruction, Hydronephrosis, Duplicat... |
OMIM:280000 |
Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive, Neonatal death |
OMIM:311900 |
Trichothiodystrophy |
|
Anemia, Dry skin, Increased mean corpuscular hemoglobin concentration, Neutropenia |
ORPHA:33364 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellitus |
OMIM:609069 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis |
ORPHA:2083 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Tetrasomy 15Q26 |
|
Horseshoe kidney, Hydronephrosis |
OMIM:614846 |
Zellweger Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Failure to thrive |
ORPHA:912 |
Immunodeficiency 55 |
|
Lymphopenia, Dry skin, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... |
OMIM:211900 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Cachexia |
ORPHA:220295 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Methylmalonic aciduria, Failure to thrive, Hypoglyce... |
ORPHA:17 |
Kleefstra Syndrome |
|
Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypo... |
ORPHA:261494 |
Rapp-Hodgkin Syndrome |
|
Dry skin, Hypospadias |
OMIM:129400 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Failure to thrive |
OMIM:619179 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Skin ulcer, Dry skin, Splenomegaly, Multiple renal cysts, Hypospadias |
ORPHA:955 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Polycythemia, Hypoglycemia, Obesity, Large for gestational age, Vesicoureteral reflu... |
ORPHA:116 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia, Failure to thrive |
OMIM:618426 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... |
ORPHA:887 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Recurrent urinary tract infections, Slender bui... |
OMIM:613658 |
9P13 Microdeletion Syndrome |
|
Dry skin |
ORPHA:324313 |
Tenorio Syndrome |
|
Hypoinsulinemia, Enuresis, Hypoglycemia |
OMIM:616260 |
Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Neonatal death, Hydronephrosis, Hypopl... |
OMIM:601186 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Failure to thrive |
OMIM:302960 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Dry skin, Renal insufficiency, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Neonatal hypoglycemia, Hypospadias |
ORPHA:457485 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Cockayne Syndrome A |
|
Failure to thrive, Dry skin, Renal insufficiency, Splenomegaly, Proteinuria, Micropenis |
OMIM:216400 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia |
ORPHA:453533 |
Xeroderma Pigmentosum |
|
Aminoaciduria, Erythema, Failure to thrive, Dry skin |
ORPHA:910 |
Carpenter Syndrome 1 |
|
Hydronephrosis, Obesity, Hydroureter, Polysplenia |
OMIM:201000 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin |
ORPHA:69087 |
Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Diabetes mellitus |
OMIM:601701 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Nestor-Guillermo Progeria Syndrome |
|
Dry skin, Failure to thrive |
OMIM:614008 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Brain-Lung-Thyroid Syndrome |
|
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact... |
ORPHA:209905 |
Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... |
ORPHA:2473 |
Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261344 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Obesity, Type I diabetes mellitus |
OMIM:619269 |
Menkes Disease |
|
Bladder diverticulum, Dry skin, Hypoglycemia |
ORPHA:565 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Renal agenesis, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduce... |
OMIM:301040 |
Zaki Syndrome |
|
Hydronephrosis, Renal agenesis |
OMIM:619648 |
Hallermann-Streiff Syndrome |
|
Dry skin, Small for gestational age |
OMIM:234100 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, Small for gest... |
OMIM:307030 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2437 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... |
OMIM:616737 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Thrombocytopenia, Neonatal hypoglycemia |
OMIM:616271 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hypoglycemia, Splenomegaly, 3-hydroxydicarboxylic aciduria, Hyperalaninemia, L... |
OMIM:252010 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph... |
ORPHA:99826 |
Al-Gazali Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:609465 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral... |
OMIM:614080 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Blau Syndrome |
|
Nephropathy, Erythema, Skin ulcer, Dry skin, Stage 5 chronic kidney disease, Clear cell renal cel... |
ORPHA:90340 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Functional abnormality of the bladder, Horseshoe kidney, Redundant skin, Nephrolithiasis, Hydrone... |
ORPHA:2953 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Dry skin, Periorbital wrinkles |
OMIM:614941 |
Trisomy 20P |
|
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... |
ORPHA:261318 |
Dermatomyositis |
|
Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Dry skin, Elevated circulating crea... |
ORPHA:221 |
3C Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Hypospadias |
ORPHA:7 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypoglycemia, Hypokalemia |
ORPHA:786 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin |
OMIM:619306 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... |
ORPHA:1225 |
Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Dry skin, Pyelonephritis, Renal insufficiency |
OMIM:181270 |
Perlman Syndrome |
|
Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Large for gestational age, ... |
OMIM:267000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
Odontoonychodermal Dysplasia |
|
Erythema, Palmoplantar erythema, Dry skin |
OMIM:257980 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Erythema, Failure to thrive, Hypomagnesemia, Dry skin, Hepatosplenomeg... |
OMIM:619503 |
Glucocorticoid Deficiency 2 |
|
Hypoglycemia, Recurrent hypoglycemia |
OMIM:607398 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney |
OMIM:235510 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Abnormality of the kidne... |
ORPHA:847 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Anemia, Thrombocytopenia, Micropenis, Hypospadias |
ORPHA:163979 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Erythema, Elevated 8(9)-cholestenol, Hydronephrosis, Stillbirth, Eleva... |
OMIM:308050 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Neonatal death, Neutro... |
OMIM:617248 |
Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Micropenis |
OMIM:612513 |
2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Failure to thrive |
ORPHA:261349 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis |
OMIM:619351 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Dry skin, Hepatosplenomegaly, Chronic lymphatic leukemia, M... |
ORPHA:51 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... |
OMIM:300707 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Failure to thrive, Renal dysplasia, Horseshoe kidney, Fasting hypoglycemia, H... |
ORPHA:96182 |
Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... |
OMIM:607323 |
Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis |
ORPHA:1297 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Failure to thrive, Dry skin, Hyperbilirubinemia, Renal cyst, Stillbirth, Microp... |
OMIM:210710 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Failure to thrive, Dry skin |
OMIM:612132 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp... |
ORPHA:99776 |
Raine Syndrome |
|
Hydronephrosis, Hypophosphatemia, Hydroureter, Neonatal death |
OMIM:259775 |
Micro Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis |
ORPHA:2510 |
Congenital Myopathy 17 |
|
Hydronephrosis, Failure to thrive in infancy, Renal hypoplasia, Ureteropelvic junction obstruction |
OMIM:618975 |
Barber-Say Syndrome |
|
Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling |
OMIM:209885 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Hoxha-Aliu Syndrome |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:620662 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... |
ORPHA:464311 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Vesicovaginal fistula, Hypoglycemia, Horseshoe kidney, Decreased circulating renin level, Hyponat... |
OMIM:201750 |
Sotos Syndrome |
|
Increased body weight, Neonatal hypoglycemia, Glucose intolerance, Abnormality of the kidney |
OMIM:117550 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia |
OMIM:262600 |
Microphthalmia, Lenz Type |
|
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia |
ORPHA:568 |
Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... |
OMIM:146510 |
Lujo Hemorrhagic Fever |
|
Microscopic hematuria, Oliguria, Renal insufficiency, Dysphagia |
ORPHA:319213 |
Ablepharon Macrostomia Syndrome |
|
Dry skin, Hypoplasia of penis, Redundant skin, Excessive wrinkled skin |
ORPHA:920 |
Stromme Syndrome |
|
Hydronephrosis, Accessory spleen, Bilateral renal hypoplasia, Stillbirth |
OMIM:243605 |
Melnick-Needles Syndrome |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:2484 |
Bartsocas-Papas Syndrome 1 |
|
Micropenis, Dry skin, Ectopic kidney |
OMIM:263650 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive |
ORPHA:2995 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias |
OMIM:616449 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Pallor, Failure to thrive, Hypoglycemia |
ORPHA:137675 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia |
OMIM:201400 |
Kabuki Syndrome |
|
Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectopia, Obesity, Uretero... |
ORPHA:2322 |
Chand Syndrome |
|
Dry skin, Hydroureter |
ORPHA:1401 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Redundant skin, Hydronephrosis, Bladder diverticulum, Decreased circulating... |
OMIM:304150 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... |
ORPHA:464306 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Distal Deletion 12Q |
|
Maturity-onset diabetes of the young, Failure to thrive in infancy, Obesity, Vesicoureteral reflu... |
ORPHA:96149 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Dry skin, Skin ulcer, Scaling skin |
ORPHA:2526 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Facial erythema, Scaling skin |
ORPHA:1010 |
Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux |
ORPHA:93260 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Dry skin, Hyperbilirubinemia, Increased circulating thyroglobulin concentration |
OMIM:218700 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... |
ORPHA:391641 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micropenis, Hypoglycemia |
OMIM:620224 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... |
OMIM:301068 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology |
ORPHA:314585 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acral ulceration, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia |
OMIM:256810 |
Focal Dermal Hypoplasia |
|
Erythema, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:2092 |
1Q21.1 Microdeletion Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Failure to thrive |
ORPHA:250989 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis, Splenomegaly, Failure to thrive |
OMIM:115150 |
Wiedemann-Rautenstrauch Syndrome |
|
Long penis, Failure to thrive, Premature skin wrinkling, Dry skin, Hypoplasia of the thymus, Hype... |
OMIM:264090 |
Adult Syndrome |
|
Dry skin |
OMIM:103285 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux, Failure to thrive |
ORPHA:453499 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Multiple bladder diverticula, Redundant skin, Hydronephrosis, Hypoplasia of the... |
OMIM:613177 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis, Redundant neck skin |
ORPHA:254528 |
Fryns Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias |
ORPHA:2059 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Fasting hypoglycemia |
ORPHA:25 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Insulin resistance, Horseshoe kidney, Obesity, Impaired fasting glucose, ... |
ORPHA:110 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive, Extramedullary hematopoiesis |
ORPHA:2886 |
Encephalocraniocutaneous Lipomatosis |
|
Hydronephrosis, Pelvic kidney |
OMIM:613001 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst |
OMIM:618454 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... |
OMIM:616580 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Hypoglycemia |
OMIM:131100 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Ureteral obstruction, Hypospadias, Failure to thrive |
ORPHA:90652 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis |
OMIM:617798 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss, Iron deficiency anemia |
ORPHA:100078 |
Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure |
ORPHA:90051 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:620663 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Vesicoureteral reflux, Hydronephrosis, Micropenis, Pelvic kidney |
OMIM:618653 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Dry skin, Periorbital wrinkles |
OMIM:305100 |
Cat Eye Syndrome |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis |
OMIM:115470 |
Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:85201 |
Cerebellar-Facial-Dental Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive |
ORPHA:444072 |
Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Hypoglycemia, Splenomegaly, Nephroblastom... |
ORPHA:373 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Failure to thrive, ... |
OMIM:270400 |
8P Inverted Duplication/Deletion Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Micropenis |
ORPHA:96092 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... |
ORPHA:280633 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Fryns Syndrome |
|
Renal agenesis, Polysplenia, Large for gestational age, Hydronephrosis, Renal cyst, Stillbirth, U... |
OMIM:229850 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia |
ORPHA:289176 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias, Male urethral meatus stenosis |
ORPHA:464738 |
Chime Syndrome |
|
Erythema, Acute leukemia, Skin ulcer, Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Perianal erythema, Renal agenesis, Dry s... |
OMIM:308205 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hydronephrosis, Thrombocytopenia... |
OMIM:251260 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Hypoglycemia |
ORPHA:2710 |
7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Obesity, Hydronephrosis, Enuresis |
ORPHA:96121 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Dry skin, Amegakaryocytic thrombo... |
OMIM:163950 |
Mosaic Trisomy 8 |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:96061 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Hypoglycemia |
ORPHA:109 |
Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... |
ORPHA:90324 |
15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia |
ORPHA:3380 |
Ablepharon-Macrostomia Syndrome |
|
Micropenis, Dry skin, Redundant skin, Premature skin wrinkling |
OMIM:200110 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased proportion of class-switched memory B cells, Hypoglycemia |
OMIM:233600 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication |
OMIM:104350 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureteral stenosis |
OMIM:272950 |
Deeah Syndrome |
|
Decreased body weight, Thrombocytopenia, Micropenis, Neonatal hypoglycemia, Decreased hemoglobin ... |
OMIM:619004 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia |
ORPHA:565624 |
Melnick-Needles Syndrome |
|
Hydronephrosis, Failure to thrive, Ureteral stenosis, Stillbirth |
OMIM:309350 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... |
OMIM:604292 |
Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter |
OMIM:305620 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Splenopancreatic f... |
OMIM:269150 |
Visceral Myopathy 1 |
|
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction, Failure to thrive |
OMIM:616973 |
Vater/Vacterl Association |
|
Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd... |
OMIM:192350 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia |
OMIM:616007 |
White-Kernohan Syndrome |
|
Horseshoe kidney, Obesity, Hydronephrosis, Hydroureter |
OMIM:619426 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... |
ORPHA:487796 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hypospadias, Small for... |
OMIM:220111 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... |
ORPHA:818 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... |
OMIM:258040 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Obesity, Hepatosplenomegaly, Hypoglycemia |
OMIM:301066 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... |
ORPHA:363958 |
Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction |
OMIM:617557 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, N... |
OMIM:130650 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Ureteral hypoplasia,... |
ORPHA:79328 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Asplenia |
ORPHA:210122 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Digeorge Syndrome |
|
Unilateral renal agenesis, Obesity, Renal insufficiency, Splenomegaly, Hypocalcemia, Hydronephros... |
OMIM:188400 |
Tooth Agenesis, Selective, 4 |
|
Dry skin |
OMIM:150400 |
Limb-Mammary Syndrome |
|
Dry skin |
ORPHA:69085 |
Schinzel-Giedion Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydrone... |
ORPHA:798 |
Thyroid Ectopia |
|
Dry skin |
ORPHA:95712 |
Opitz Gbbb Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Hypospadias, Vesicoureteral reflux |
ORPHA:2745 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Dry skin, Anemia |
ORPHA:642 |
Floating-Harbor Syndrome |
|
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... |
ORPHA:2044 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... |
OMIM:129900 |
Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Dry skin, Redundant skin in infancy, Cutis laxa, Vesicoureteral reflux |
OMIM:150230 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias |
OMIM:268310 |
Trisomy 8P |
|
Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis |
ORPHA:264450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Incre... |
OMIM:619534 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Acute myelomonocytic leukemia, Failure to thrive, Dry skin, D-2-hydrox... |
ORPHA:99646 |
Alzahrani-Kuwahara Syndrome |
|
Dry skin, Hypospadias |
OMIM:619268 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Premature skin wrinkling, Slender build, W... |
ORPHA:3455 |
Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age |
ORPHA:97360 |
Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
Costello Syndrome |
|
Renal insufficiency, Failure to thrive, Hypoglycemia, Redundant neck skin |
OMIM:218040 |
Monosomy 22Q13.3 |
|
Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Renal dysplasia |
ORPHA:48652 |
Acute Liver Failure |
|
Hypoglycemia, Acute kidney injury, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
Autosomal Recessive Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis |
ORPHA:1507 |
Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Neonatal death, Hydroneph... |
OMIM:265380 |
1P36 Deletion Syndrome |
|
Failure to thrive, Abnormality of the spleen, Obesity, Hydronephrosis, Renal cyst, Abnormality of... |
ORPHA:1606 |
Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Thrombocytopenia |
ORPHA:2308 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Urethral atresia |
OMIM:271520 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Failure to thrive, Hydronephrosis, Truncal obesity, Leukemia, Hypospadias, Smal... |
OMIM:180849 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353281 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:352665 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Ureteral obstruction, Urethral stenosis |
ORPHA:1826 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Hydronephrosis, Micropenis, B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Redundant neck ski... |
ORPHA:2729 |
Sotos Syndrome |
|
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... |
ORPHA:821 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Slender build, Large for gestational age, Neonatal hypoglycemia |
ORPHA:457359 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Hydronephrosis, Nephrotic syndrome, Ecchymosis |
OMIM:601776 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis,... |
ORPHA:438213 |
Johanson-Blizzard Syndrome |
|
Urethrovaginal fistula, Failure to thrive, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol... |
OMIM:243800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney |
OMIM:261740 |
Plague |
|
Dry skin, Skin ulcer, Splenomegaly |
ORPHA:707 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Erythema, Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract,... |
ORPHA:2273 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... |
OMIM:615287 |
Campomelic Dysplasia |
|
Hydronephrosis, Hypospadias, Failure to thrive |
OMIM:114290 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... |
OMIM:619522 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Hypoglycemia |
ORPHA:226307 |
Arboleda-Tham Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections |
OMIM:616268 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronephrosis, Micropenis, Auto... |
OMIM:147920 |
Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Small for gestational age |
ORPHA:506358 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353277 |
Tetrasomy 9P |
|
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... |
ORPHA:3310 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2636 |
Yellow Fever |
|
Acute kidney injury, Renal insufficiency, Anuria |
ORPHA:99829 |
Charge Syndrome |
|
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney |
ORPHA:138 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Hypocalcemia |
OMIM:620330 |
Floating-Harbor Syndrome |
|
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... |
OMIM:136140 |
Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... |
ORPHA:709 |
Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Hypospadias, Accessory spleen, Stillbirth |
OMIM:236680 |
Charge Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Lymphopenia, Hypocalcemia, Hydronephrosis, Mi... |
OMIM:214800 |
Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Hypospadias |
OMIM:135900 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Focal Dermal Hypoplasia |
|
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney |
OMIM:305600 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Hydronephrosis, Micropenis, Renal duplication |
OMIM:180700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys... |
OMIM:312870 |
Lacrimoauriculodentodigital Syndrome |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:2363 |
Peters-Plus Syndrome |
|
Renal hypoplasia, Decreased body weight, Hydronephrosis, Ureteral duplication, Hypospadias |
OMIM:261540 |
Viss Syndrome |
|
Hydronephrosis, Cutis laxa, Hypereosinophilia, Failure to thrive |
OMIM:619472 |
Acrofacial Dysostosis, Cincinnati Type |
|
Hydronephrosis, Failure to thrive, Decreased body weight |
OMIM:616462 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal dupli... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Decreased b... |
ORPHA:2152 |
Holoprosencephaly 1 |
|
Micropenis, Hypoglycemia |
OMIM:236100 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:363700 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Vesic... |
ORPHA:261552 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula |
ORPHA:93271 |
Otopalatodigital Syndrome, Type Ii |
|
Hydronephrosis, Hypospadias, Stillbirth |
OMIM:304120 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Renal dysplasia |
ORPHA:480880 |
Non-Acquired Panhypopituitarism |
|
Hypoglycemia |
ORPHA:90695 |
Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:606170 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia |
ORPHA:95494 |