Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... |
ORPHA:35710 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Polyuria |
OMIM:613677 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
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 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
3-Methylglutaconic Aciduria Type 1 |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Anorexia |
ORPHA:178029 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin... |
OMIM:262190 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali... |
ORPHA:446 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
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 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hypoglycemia, Renal salt wasting, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disea... |
ORPHA:97362 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria, Hyperalaninemia, Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... |
ORPHA:199343 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips... |
ORPHA:213 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... |
ORPHA:320 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Tempi Syndrome |
|
Abnormality of the kidney, Increased hematocrit, Polycythemia, Facial erythema |
ORPHA:284227 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:203400 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue ... |
ORPHA:94086 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, L... |
ORPHA:3008 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi... |
OMIM:612780 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin, Renal dysplasia |
OMIM:218650 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Renal steatosis, Hypoglycemia |
OMIM:261650 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia, Anemia |
OMIM:610090 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Increased level of hippuric acid in urine, Elevated urinary pheny... |
OMIM:261600 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin, Hypoalbuminemia |
ORPHA:1954 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration |
ORPHA:171706 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... |
ORPHA:79273 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... |
ORPHA:89938 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia |
OMIM:239200 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Acquired Ichthyosis |
|
Renal insufficiency, Erythema, Dry skin |
ORPHA:454 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met... |
OMIM:246450 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Hypoglycemia, Large for gestatio... |
OMIM:616026 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... |
ORPHA:289504 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... |
ORPHA:79159 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Ren... |
OMIM:601678 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome |
ORPHA:69061 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... |
ORPHA:2089 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Dry skin, Increased body weight, Anemia |
OMIM:614450 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556037 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ... |
OMIM:619048 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pallor, Fasting hypoglycemia, Hyp... |
ORPHA:276608 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Erythema, Dry skin, Weight loss |
ORPHA:317 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R... |
OMIM:263800 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556030 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin |
ORPHA:530838 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... |
ORPHA:79237 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Thrombocytopenia, Hy... |
OMIM:617053 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria |
ORPHA:251274 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema |
ORPHA:3406 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Failure to thrive, Renal insufficiency, Hypoglycemia, Hypercalce... |
ORPHA:95409 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... |
ORPHA:263455 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Failure to thrive |
ORPHA:369 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Facial erythema |
OMIM:212360 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi... |
ORPHA:199299 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyuria, Renal sa... |
OMIM:241200 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... |
ORPHA:1667 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, In... |
ORPHA:100924 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Ddost-Cdg |
|
Failure to thrive, Dry skin, Nephrotic range proteinuria |
ORPHA:300536 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Classic Mycosis Fungoides |
|
Splenomegaly, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte morphology |
ORPHA:2584 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hyper... |
ORPHA:361 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Abnormality of the ureter, Obesity |
ORPHA:1035 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypercalc... |
ORPHA:2088 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Dry skin, Hyperinsulinemia, Obesity |
ORPHA:3085 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Neonatal death, Failure to... |
OMIM:245400 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Cutis laxa, Anemia, Premature skin wrinkling, Failure to... |
ORPHA:79325 |
Snakebite Envenomation |
|
Hyponatremia, Erythema, Ecchymosis, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:618116 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa... |
OMIM:210200 |
Omenn Syndrome |
|
Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Nephrotic syndrome, Abnorm... |
ORPHA:39041 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Mehmo Syndrome |
|
Micropenis, Small for gestational age, Obesity, Hypoglycemia |
OMIM:300148 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... |
ORPHA:173 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... |
OMIM:219800 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Decrease... |
OMIM:618156 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive |
OMIM:614739 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Thrombocytopenia, Hypergly... |
OMIM:606054 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Unilateral r... |
OMIM:614576 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight |
ORPHA:231140 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hy... |
OMIM:618120 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Failure to thrive, Renal insufficiency, Recurrent urinary tract infections, Pro... |
OMIM:619487 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemia, Renal salt wasti... |
ORPHA:85138 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis |
ORPHA:369929 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis... |
ORPHA:810 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Mildly elevated creatine kinase |
ORPHA:486815 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin, Urinary incontinence |
OMIM:614920 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:620184 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Dry skin, Renal hypoplasia |
ORPHA:1745 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity |
ORPHA:384 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria |
OMIM:603592 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... |
OMIM:619355 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypo... |
ORPHA:79644 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:99880 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria, Neonatal hypo... |
OMIM:606407 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Failure to thrive, Dry skin, Cutis laxa |
OMIM:612379 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g... |
OMIM:261680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... |
OMIM:619046 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:143 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Bachmann-Bupp Syndrome |
|
Dry skin, Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Sjögren-Larsson Syndrome |
|
Erythema, Dry skin |
ORPHA:816 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Dry skin, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Splenomegaly, Decreased serum zinc, Perioral erythema, Dry ... |
OMIM:201100 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Failure to thrive, Elevated circulating C-reactive protein concentra... |
OMIM:617388 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Renal salt wasting |
OMIM:300200 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal circulating tryptophan concentration, Dry skin |
ORPHA:79155 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis |
ORPHA:85285 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Increased cir... |
ORPHA:90791 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Elevated circulating... |
ORPHA:42 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin |
ORPHA:2101 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... |
ORPHA:411536 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... |
ORPHA:31824 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Scaling skin, Renal cortical cysts |
OMIM:609180 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubine... |
OMIM:617093 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... |
OMIM:620300 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive |
OMIM:614702 |
Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia, Obesity, Normochromic anemia, Hyposthenuria, Pallor, Dry skin |
ORPHA:91355 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Obesity, Renal hypoplasia |
OMIM:615996 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesem... |
ORPHA:428 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Dry skin, Increased circulating free fatty acid level |
OMIM:610768 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Obesity, Organic aciduria |
OMIM:620191 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... |
ORPHA:3463 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,... |
OMIM:210210 |
Recessive X-Linked Ichthyosis |
|
Dry skin |
ORPHA:461 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Petechiae, Hypospadias, Dry skin, Failure to thrive, Anemia |
OMIM:620331 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin |
ORPHA:95715 |
Netherton Syndrome |
|
Aminoaciduria, Dry skin, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis, Redundant skin |
ORPHA:251046 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Small for gestational age |
OMIM:616943 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res... |
ORPHA:769 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:246900 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Pallor, Hyperuricemia, Thromb... |
ORPHA:134 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... |
ORPHA:2126 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia |
ORPHA:537 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Hypoglycemia, Pallor, Hyperuricemia, Fasting hypoglycemia, Hyperalani... |
ORPHA:348 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618839 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Dry skin, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Small for gestational age, Hypoglycemia, Hyperammonemia, Neutropenia |
OMIM:618253 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Renal salt w... |
ORPHA:275761 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Lamellar Ichthyosis |
|
Renal insufficiency, Dry skin, Lack of skin elasticity |
ORPHA:313 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Amin... |
OMIM:619055 |
Panhypophysitis |
|
Polydipsia, Hyposthenuria |
ORPHA:95513 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Long penis, Hyperkalemia, Weight loss, H... |
ORPHA:90794 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria |
ORPHA:35687 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Lymphopenia |
ORPHA:549 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... |
ORPHA:69076 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Glutaric Acidemia I |
|
Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai... |
OMIM:231670 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Recurr... |
OMIM:212140 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, H... |
OMIM:222300 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria |
OMIM:248360 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor |
ORPHA:95512 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis |
OMIM:613390 |
Hartsfield Syndrome |
|
Micropenis, Hypernatremia, Hypospadias |
OMIM:615465 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Congenital pos... |
OMIM:180860 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ... |
ORPHA:358 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c... |
ORPHA:168558 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... |
OMIM:608836 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia |
OMIM:618958 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... |
ORPHA:79276 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Diabetes mellitus, Leukocytosis, Hyperkalemia, Oliguria, ... |
ORPHA:544482 |
Whipple Disease |
|
Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Anemia |
ORPHA:3452 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c... |
ORPHA:289548 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... |
ORPHA:731 |
Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Dry skin, Hypospadias, Cachexia |
ORPHA:217346 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... |
ORPHA:73272 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Redundant skin, Recurrent hypoglycemia, Hypoalbuminemia, B lymphocytop... |
ORPHA:79324 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Hypoglycemia, Pallor |
ORPHA:95613 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronep... |
ORPHA:2315 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus |
OMIM:618252 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Dry skin |
OMIM:268020 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Decreased serum zinc, Hydron... |
ORPHA:541423 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration,... |
ORPHA:99901 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Dry skin, Throm... |
OMIM:613990 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... |
OMIM:212138 |
Schopf-Schulz-Passarge Syndrome |
|
Dry skin |
OMIM:224750 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
D-Glyceric Aciduria |
|
Hypoglycemia, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis, Failure to thrive |
OMIM:220120 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Dry skin, Hydronephrosis, Renal duplica... |
ORPHA:96169 |
Refsum Disease |
|
Splenomegaly, Renal insufficiency, Dry skin |
ORPHA:773 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections |
OMIM:619218 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Large for gestational age |
ORPHA:226313 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Williams-Beuren Region Duplication Syndrome |
|
Failure to thrive, Small for gestational age, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Redundant neck skin, Small for gestational age, Elevated circulatin... |
OMIM:301056 |
Temple Syndrome |
|
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity |
ORPHA:254516 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale... |
ORPHA:293978 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin |
ORPHA:177 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... |
OMIM:251880 |
Noonan Syndrome 5 |
|
Dry skin, Large for gestational age |
OMIM:611553 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia, Abnormality of the lower urin... |
ORPHA:391428 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3-Meth... |
ORPHA:20 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... |
ORPHA:449400 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia |
OMIM:201450 |
Radio-Tartaglia Syndrome |
|
Dry skin, Obesity, Striae distensae |
OMIM:619312 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... |
ORPHA:534 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Dry skin |
ORPHA:3162 |
Syndromic Diarrhea |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Dry sk... |
ORPHA:84064 |
Prolidase Deficiency |
|
Recurrent cystitis, Splenomegaly, Erythema, Skin ulcer, Dry skin |
ORPHA:742 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Abnormal circulating thyroglobulin level, Dry skin |
ORPHA:99832 |
Fucosidosis |
|
Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Dry skin, Oligosacchariduria, Failure to t... |
OMIM:230000 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-... |
OMIM:617156 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Decreased body weight |
OMIM:618265 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Dry skin |
OMIM:619087 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin, Eosinophilia |
OMIM:618282 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Dry skin, Scaling skin, Anemia |
OMIM:620370 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Dry skin, Vesicoureteral reflux, F... |
OMIM:610443 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Vesicoureteral reflux, Dry skin |
OMIM:618797 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Dry skin, Facial erythema |
OMIM:308800 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Dry skin, Hypospadias |
OMIM:613026 |
Leopard Syndrome 3 |
|
Dry skin |
OMIM:613707 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:608779 |
Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Cutis laxa, Abnormal spleen morphology, Dry skin |
ORPHA:85448 |
Adiposis Dolorosa |
|
Dry skin, Obesity |
ORPHA:36397 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypospadias, Hypoglycemia, Hypocalcemia, Micropenis, Failure to thrive |
OMIM:607143 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Leigh Syndrome |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dy... |
ORPHA:506 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Hypocalcemia,... |
ORPHA:2237 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin |
OMIM:618535 |
Pili Torti-Onychodysplasia Syndrome |
|
Dry skin |
ORPHA:2890 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive |
OMIM:618329 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Dry skin |
OMIM:618527 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia |
OMIM:600649 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Hypochromic microcytic anemia, Perineal hypospadias, Normochromic microcytic... |
ORPHA:66634 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl... |
ORPHA:79282 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Small for gestational age, Renal hypoplasia |
OMIM:616817 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Overweight, Obesity, Decreased body weight, Dry skin |
OMIM:619229 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia |
ORPHA:514 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight |
ORPHA:391408 |
Liver Disease, Severe Congenital |
|
Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Hypo... |
OMIM:619991 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin |
OMIM:612281 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Stage 5 chr... |
ORPHA:79259 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Dry skin, Failure to thrive in infancy, Anemia |
ORPHA:261323 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... |
ORPHA:445038 |
Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis, Obesity |
OMIM:619185 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Excessive wrinkled skin, Dry skin, Hydronephrosis |
ORPHA:1340 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney |
ORPHA:1764 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Microphallus, Hypospadias, Hypoglycemia |
ORPHA:397590 |
Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Failure to thrive, Dry skin |
ORPHA:238468 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... |
ORPHA:508542 |
Donohue Syndrome |
|
Long penis, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Post... |
OMIM:246200 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin |
ORPHA:1028 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Failure to thrive, Hypoglycemia |
ORPHA:95496 |
Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, Dry skin, Anemia |
ORPHA:31150 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Proteinuria, ... |
ORPHA:2162 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Suleiman-El-Hattab Syndrome |
|
Failure to thrive, Hydronephrosis |
OMIM:618950 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Hyperlipidemia, Hematuria, Fo... |
OMIM:232240 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Giant ... |
OMIM:611209 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Dry skin, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Failure to thrive, Neon... |
ORPHA:90674 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Hypoglycemia |
ORPHA:79239 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Stage 5 chronic kidney disease, Nephronophthisis, Cutis laxa |
OMIM:614099 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Neutropenia |
OMIM:618005 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Dry skin, Anemia |
ORPHA:2637 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, M... |
ORPHA:1655 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Unilateral renal agenesis, Scaling skin, Dry skin |
OMIM:618419 |
Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Hypertriglyceridemia, Small for gestational age, Polyuria, Facial wrinkling, I... |
OMIM:606721 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Small for gestational age, Hydronephrosis, Hypospadias |
OMIM:616897 |
Dubowitz Syndrome |
|
Hypospadias, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Hydronep... |
ORPHA:235 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin |
OMIM:104570 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:480864 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating... |
OMIM:616878 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Failure to thrive |
ORPHA:2609 |
Leprechaunism |
|
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Hypokalemia, ... |
ORPHA:508 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... |
ORPHA:314588 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... |
ORPHA:469 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Urinary retention, Dry skin, Small for gestational age, Neutropenia |
OMIM:617799 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Scaling skin, Neonatal hypoglycemia |
ORPHA:35173 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add... |
ORPHA:31826 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... |
ORPHA:2785 |
Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Dry skin |
ORPHA:1812 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin |
OMIM:618373 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid h... |
OMIM:612541 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Failure to thrive, Hydronephrosis |
ORPHA:488613 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Small for gestational age |
OMIM:601675 |
Noonan Syndrome 14 |
|
Lymphopenia, Dry skin |
OMIM:619745 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fat... |
OMIM:214100 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Thrombocytopenia, Large for gestational age |
OMIM:610733 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis |
ORPHA:364028 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Neutropenia, Vesicoureteral reflux, Micropenis, Dry skin, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury |
OMIM:235400 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Hypoplasia of the thymus, Vesicoureteral... |
ORPHA:1896 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Obesity, Cystic renal dysplasia |
OMIM:615989 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Renal insufficiency, Abnormality of the kidney, Glomerulonephriti... |
ORPHA:289390 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypog... |
ORPHA:813 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... |
OMIM:124000 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Scaling skin |
OMIM:616295 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Cockayne Syndrome B |
|
Renal insufficiency, Small for gestational age, Proteinuria, Splenomegaly, Dry skin, Severe failu... |
OMIM:133540 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, H... |
OMIM:307030 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral refl... |
OMIM:618460 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Neonatal hypo... |
OMIM:619418 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Unilateral renal agenesis |
OMIM:617190 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Splenomegaly, Dry skin |
OMIM:607626 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Tarp Syndrome |
|
Neonatal death, Failure to thrive, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia |
OMIM:609069 |
Trichothiodystrophy |
|
Dry skin, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Large for gestational age, Acute lymphoblastic leukemia, Ureteropel... |
OMIM:280000 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Hypoglycemia, Methylmalonic aciduria, 3-Methylglutaconic aci... |
ORPHA:17 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Dry skin, Neutropenia |
OMIM:617827 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis |
ORPHA:912 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Dry skin, Petechiae |
OMIM:609242 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hypoglycemia, Redundant skin, Elevated circulating alpha-fetoprotein concen... |
ORPHA:116 |
Rapp-Hodgkin Syndrome |
|
Dry skin, Hypospadias |
OMIM:129400 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Cachexia |
ORPHA:220295 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Hydronephrosis |
OMIM:619179 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Tenorio Syndrome |
|
Enuresis, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis |
OMIM:302960 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Obesity, Renal cyst, Vesicoureteral reflux... |
ORPHA:261494 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
9P13 Microdeletion Syndrome |
|
Dry skin |
ORPHA:324313 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Dry skin, Hydronephrosis |
ORPHA:2750 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Splenomegaly, Dry skin, Skin ulcer, Multiple renal cysts, Failure to thrive |
ORPHA:955 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Neonatal death, Hyp... |
OMIM:601186 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia |
ORPHA:453533 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Hypoglycemia, Hypoal... |
OMIM:613658 |
Xeroderma Pigmentosum |
|
Failure to thrive, Erythema, Dry skin, Aminoaciduria |
ORPHA:910 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin |
ORPHA:69087 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Arthrogryposis And Ectodermal Dysplasia |
|
Diabetes mellitus, Dry skin |
OMIM:601701 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
Carpenter Syndrome 1 |
|
Hydronephrosis, Hydroureter, Obesity, Polysplenia |
OMIM:201000 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Splenomegaly, Dry skin, Micropenis, Failure to thrive |
OMIM:216400 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Menkes Disease |
|
Bladder diverticulum, Dry skin, Hypoglycemia |
ORPHA:565 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... |
OMIM:301040 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Neonatal hypoglycemia |
OMIM:616271 |
Hallermann-Streiff Syndrome |
|
Dry skin, Small for gestational age |
OMIM:234100 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gest... |
OMIM:614080 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Renal insufficiency, Hypoglycemia, Elevated circulating creatine ki... |
ORPHA:99826 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Splenomegaly, Erythema, Stage 5 chronic kidney disease, Skin ulc... |
ORPHA:90340 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Dry skin, Periorbital wrinkles |
OMIM:614941 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... |
ORPHA:209905 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Dry skin |
OMIM:614008 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... |
OMIM:616737 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Redundant skin, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... |
ORPHA:2953 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Hypoglycemia, Splenomegaly, Lacticaciduria, Hyperala... |
OMIM:252010 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Obesity, Type I diabetes mellitus |
OMIM:619269 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypokalemia, Hypoglycemia |
ORPHA:786 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Nephroblastomatosis, ... |
OMIM:267000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin |
OMIM:619306 |
Al-Gazali Syndrome |
|
Failure to thrive, Hydronephrosis |
OMIM:609465 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Erythema, Dry skin |
OMIM:257980 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... |
ORPHA:1225 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythema, St... |
OMIM:308050 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis, Anemia |
ORPHA:163979 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Neonatal death, Failure to t... |
OMIM:617248 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Dry skin |
OMIM:181270 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Failure to thrive, Unilateral renal agenesis, Erythema, Facial erythema, Cutis ... |
OMIM:619503 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... |
ORPHA:49 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno... |
ORPHA:51 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis |
ORPHA:261349 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Vesicoureteral reflux, Crossed... |
OMIM:300707 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Dry skin, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbilirubinem... |
OMIM:210710 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Hypospadias, Insulin resistance, Horseshoe kidney, Fasting hypoglycemi... |
ORPHA:96182 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysp... |
ORPHA:99776 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Failure to thrive, Dry skin |
OMIM:612132 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Sotos Syndrome |
|
Glucose intolerance, Increased body weight, Neonatal hypoglycemia, Abnormality of the kidney |
OMIM:117550 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia |
OMIM:618975 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:221 |
Raine Syndrome |
|
Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Hyperk... |
OMIM:201750 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst, Pelvic kidney, Mic... |
ORPHA:464311 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Hypoplasia of penis, Dry skin, Redundant skin |
ORPHA:920 |
Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Bartsocas-Papas Syndrome 1 |
|
Micropenis, Dry skin, Ectopic kidney |
OMIM:263650 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia |
ORPHA:319213 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia |
OMIM:201400 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Pallor, Renal cyst |
ORPHA:137675 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia, Horseshoe kidney, Decreased body weight |
OMIM:300867 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re... |
OMIM:304150 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter |
ORPHA:2995 |
Chand Syndrome |
|
Dry skin, Hydroureter |
ORPHA:1401 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Ectopic ki... |
ORPHA:96149 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst, Pelvic kidney, Mic... |
ORPHA:464306 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Dry skin, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Scaling skin, Facial erythema |
ORPHA:1010 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micropenis, Hypoglycemia |
OMIM:620224 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Acral ulceration |
OMIM:256810 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Hypospadias, Long penis, Dry skin, Hypoplasia of... |
OMIM:264090 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Failure to thrive, Hydronephrosis |
OMIM:115150 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Erythema, Horseshoe kidney, Hydronephrosis |
ORPHA:2092 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Failure to thrive, Hydronephrosis |
ORPHA:250989 |
Adult Syndrome |
|
Dry skin |
OMIM:103285 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Cutis laxa, Hypoplasia of the thymus, Multiple bladder divertic... |
OMIM:613177 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Failure to thrive, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia |
ORPHA:25 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Hydronephrosis |
ORPHA:254528 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Perianal erythema, Hypospadias, Unilateral renal agenesis, Renal ag... |
OMIM:308205 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,... |
OMIM:616580 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Hydronephrosis, Weight loss |
ORPHA:100078 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure |
ORPHA:90051 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Dry skin, Periorbital wrinkles |
OMIM:305100 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro... |
OMIM:620305 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia |
OMIM:131100 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Renal cyst, Stillbi... |
OMIM:229850 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis |
ORPHA:444072 |
Chime Syndrome |
|
Abnormality of the kidney, Erythema, Skin ulcer, Acute leukemia, Hydronephrosis |
ORPHA:3474 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Hypoglycemia |
ORPHA:2710 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Obesity, Enuresis, Hydronephrosis |
ORPHA:96121 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, T lymphocytopenia, B lymphocytop... |
OMIM:251260 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia, Cachexia |
ORPHA:109 |
Trisomy 18 |
|
Abnormality of the upper urinary tract, Hydronephrosis, Cachexia |
ORPHA:3380 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Micropenis |
OMIM:200110 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia, Decreased proportion of class-switched memory B cells |
OMIM:233600 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia |
ORPHA:565624 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... |
ORPHA:90324 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Stillbirth, Failure to thrive, Hydronephrosis |
OMIM:309350 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Micropenis, Failure to thri... |
OMIM:269150 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia |
OMIM:616007 |
White-Kernohan Syndrome |
|
Hydronephrosis, Hydroureter, Obesity, Horseshoe kidney |
OMIM:619426 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight, Micropenis, Neonatal... |
OMIM:619004 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive, Neurogenic bladder |
OMIM:616973 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperglycemia, F... |
OMIM:220111 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... |
ORPHA:487796 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Obesity, Hepatosplenomegaly |
OMIM:301066 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Small for gestational age, Hypospadias, Fetal pyelectasis, Ve... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Hypospadias, Fetal pyelectasis, Ve... |
ORPHA:363958 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Hydronephrosis |
ORPHA:210122 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral re... |
OMIM:130650 |
Tooth Agenesis, Selective, 4 |
|
Dry skin |
OMIM:150400 |
Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Obesity, Anemia, H... |
OMIM:188400 |
Schinzel-Giedion Syndrome |
|
Failure to thrive in infancy, Nephroblastoma, Hypospadias, Abnormality of the ureter, Nephrolithi... |
ORPHA:798 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Dry skin, Anemia |
ORPHA:642 |
Limb-Mammary Syndrome |
|
Dry skin |
ORPHA:69085 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Renal agenesis, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux, Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Abnormal circulating thyroglobulin level, Hypoglycemia |
ORPHA:226307 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Dry skin, Acute myelomonocytic leukemia, D-2-hydroxyglutaric aciduria,... |
ORPHA:99646 |
Alzahrani-Kuwahara Syndrome |
|
Dry skin, Hypospadias |
OMIM:619268 |
Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis |
ORPHA:97360 |
Costello Syndrome |
|
Renal insufficiency, Failure to thrive, Redundant neck skin, Hypoglycemia |
OMIM:218040 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Dilatation of renal calice... |
ORPHA:3455 |
Acute Liver Failure |
|
Thrombocytopenia, Acute kidney injury, Hypoglycemia, Hyperammonemia |
ORPHA:90062 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Ne... |
OMIM:265380 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Thrombocytopenia |
ORPHA:2308 |
Monosomy 22Q13.3 |
|
Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia |
ORPHA:48652 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Obesity, ... |
ORPHA:1606 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Small for gestational age, Hypospadias, Truncal obesity, Leukemia, Failure to t... |
OMIM:180849 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Obesity, Nephrolithiasis, Abnormality of the uri... |
ORPHA:353281 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... |
OMIM:615287 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia, Micropenis, Failure to thrive, Hydronephrosis |
ORPHA:83617 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
Okamoto Syndrome |
|
Redundant neck skin, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelv... |
ORPHA:2729 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Plague |
|
Splenomegaly, Dry skin, Skin ulcer |
ORPHA:707 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Nephrolithiasis, Vesicoureteral reflux, Hydronephrosis, Anemia |
ORPHA:438213 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypospadias, Increased VLDL cholesterol concentrati... |
OMIM:243800 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Erythema, Failure... |
ORPHA:2273 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Campomelic Dysplasia |
|
Failure to thrive, Hypospadias, Hydronephrosis |
OMIM:114290 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ecchymosis, Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney |
OMIM:261740 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Small for gestational age, Hydronephrosis |
ORPHA:506358 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Obesity, Nephrolithia... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Obesity, Nephrolithia... |
ORPHA:353277 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thrombocytopenia, Micropenis, Ureterope... |
OMIM:147920 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute kidney injury |
ORPHA:99829 |
Charge Syndrome |
|
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney |
ORPHA:138 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Charge Syndrome |
|
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Lymphopenia, Hydron... |
OMIM:214800 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Hypocalcemia |
OMIM:620330 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Nephroblastoma, ... |
OMIM:312870 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Renal hypoplasia, Decreased body weight, Hydronephrosis |
OMIM:261540 |
Holoprosencephaly 1 |
|
Micropenis, Hypoglycemia |
OMIM:236100 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Chordee, Pelvic kidney... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Duplication of renal p... |
ORPHA:261552 |
Viss Syndrome |
|
Failure to thrive, Hypereosinophilia, Hydronephrosis, Cutis laxa |
OMIM:619472 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Hypospadias, Hydronephrosis |
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 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Non-Acquired Panhypopituitarism |
|
Hypoglycemia |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia |
ORPHA:95494 |