Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Denys-Drash Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma |
ORPHA:220 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate... |
OMIM:121300 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Obesity, Myocardial infarction |
OMIM:615703 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... |
ORPHA:976 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... |
OMIM:603278 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria, Failure to thrive |
OMIM:231690 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor... |
ORPHA:85447 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Nephropathy |
ORPHA:1192 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
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 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... |
OMIM:615862 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Hypertension, Abnormal renal corticomedullary differentiation, Left ve... |
OMIM:616733 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma, Weight loss |
ORPHA:654 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Achalasia, Ischemic stroke |
OMIM:615750 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hyperte... |
ORPHA:767 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury |
OMIM:618886 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Coronary artery stenosis |
OMIM:615812 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy |
ORPHA:820 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... |
OMIM:301500 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension, Abnormality of the urinary system |
OMIM:103900 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatomegaly |
ORPHA:79084 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity |
OMIM:615988 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Renal hypoplas... |
ORPHA:97362 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:618620 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi... |
ORPHA:347 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury |
ORPHA:54057 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive |
OMIM:616069 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma |
ORPHA:52022 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr... |
OMIM:614034 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity |
OMIM:620270 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A... |
OMIM:620135 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Failure to thrive, Small for gestational age |
OMIM:218030 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Cednik Syndrome |
|
Congestive heart failure, Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... |
ORPHA:251274 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:369 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Secundum ... |
ORPHA:2260 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
OMIM:171400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis |
OMIM:613870 |
Sneddon Syndrome |
|
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria |
ORPHA:375 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Abdominal obesity |
OMIM:615980 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... |
OMIM:620300 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly |
OMIM:608600 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Congestive heart fai... |
ORPHA:85450 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Tachycardia, Hypotension |
OMIM:145600 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... |
ORPHA:182050 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Abnorm... |
ORPHA:85443 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Proteinuria |
OMIM:620010 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Hypertension, Macroscopic hematur... |
ORPHA:251004 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Cor pulmonale, Nephrotic syndrome, Mucopolysacchariduria |
OMIM:215250 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Small for gestational age, Hematuria, Hypertension, ... |
OMIM:617021 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension |
OMIM:613877 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... |
ORPHA:91139 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria |
OMIM:613677 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys |
OMIM:619111 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension |
ORPHA:280356 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Hypertension, Nephrotic syndrome |
ORPHA:110 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta... |
ORPHA:183 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria,... |
OMIM:619487 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, A... |
OMIM:613404 |
Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Hepatomegaly |
OMIM:615238 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Obesity, Hypotension |
ORPHA:369873 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Tetanus |
|
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... |
ORPHA:3299 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... |
ORPHA:368 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension |
OMIM:603903 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia |
ORPHA:97229 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Increased body weight, Renal F... |
ORPHA:263455 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Obesity |
ORPHA:77296 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Failure t... |
OMIM:269920 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoa... |
OMIM:616026 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Palpitations,... |
ORPHA:1501 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... |
OMIM:613159 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Increased body weight |
OMIM:615830 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Stiff Skin Syndrome |
|
Hypertension, Nephrolithiasis |
ORPHA:2833 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased body weight |
ORPHA:890 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitr... |
OMIM:212140 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Wagro Syndrome |
|
Hypertension, Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy, Myoglobinuria |
ORPHA:119 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria |
OMIM:231530 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... |
ORPHA:369929 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Sple... |
ORPHA:91138 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... |
ORPHA:261222 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension, Truncal obesity |
OMIM:610489 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Transient ischemic attack, Proteinuria, Small for gestational age, Minimal cha... |
ORPHA:1830 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Galactosemia I |
|
Hepatomegaly, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Albuminuria, F... |
OMIM:230400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly |
OMIM:619858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... |
ORPHA:324 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... |
OMIM:617595 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome |
ORPHA:834 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob... |
OMIM:201475 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis, Total anomalous ... |
ORPHA:494424 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne... |
ORPHA:244242 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... |
OMIM:614702 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia, Obesity |
OMIM:615985 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Endocarditis, Hematuri... |
ORPHA:549 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... |
OMIM:613845 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Myoglobinuria, Red-brown urine, Cardiomyopathy, Arrhythmia |
ORPHA:228305 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Renal hypoplasia, Obesity |
OMIM:600151 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... |
ORPHA:247691 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hepatomegaly |
ORPHA:363400 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Obesity, Elevated ... |
ORPHA:90041 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight |
OMIM:618347 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276556 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Truncal obesity |
OMIM:219080 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age |
OMIM:617757 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Abdominal obesity, Nephrolithiasis, Obesity |
OMIM:219090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Truncal obesity |
OMIM:610475 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Porphyria Variegata |
|
Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u... |
ORPHA:79473 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis, Renal cortical adenoma |
ORPHA:231632 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhy... |
OMIM:609015 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ... |
OMIM:612780 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Transient ischemic attack, Proteinuria, Small for gestational age, Stage 5 c... |
OMIM:242900 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension |
ORPHA:79086 |
Alstrom Syndrome |
|
Hepatomegaly, Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Hypertension... |
OMIM:203800 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab... |
ORPHA:52 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl... |
OMIM:232200 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Large vessel vasculitis, Unilateral rena... |
ORPHA:49041 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypertension, Obesity |
ORPHA:69663 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... |
ORPHA:36412 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary potassium, Im... |
ORPHA:89938 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276575 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hy... |
OMIM:614052 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat... |
ORPHA:525731 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hypertension, Failure to thrive, Glomerulopathy |
ORPHA:2169 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5... |
ORPHA:411634 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega... |
ORPHA:42 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276580 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Large for gestational age, Overgrowth, Pulmonic stenosis, Ta... |
ORPHA:137634 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia |
OMIM:255120 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypertension, Failure to thrive |
OMIM:610965 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Acute Intermittent Porphyria |
|
Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Hyper... |
ORPHA:79276 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology |
OMIM:266500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... |
ORPHA:228308 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo... |
OMIM:232220 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal... |
OMIM:232240 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Weight loss, Hypertension, Hypotension |
ORPHA:134 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Obesity, Ventri... |
OMIM:614947 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Increased body weight, Nephrolithiasis, Hypertension, Renal cel... |
ORPHA:189427 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita... |
ORPHA:324575 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Arrhythmia, Acute kidney injury |
ORPHA:57 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Microsc... |
OMIM:274150 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight |
ORPHA:276608 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:79083 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Overlap Myositis |
|
Abnormality of the kidney, Raynaud phenomenon, Abnormal heart morphology, Hypertension, Pulmonary... |
ORPHA:206572 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... |
OMIM:619758 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Pulmonary venous hypertension, Proteinuria, Weight loss |
ORPHA:90060 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Mitral regurgitation, Pu... |
OMIM:615355 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... |
OMIM:115310 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... |
ORPHA:220393 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Obesity, Heart murmur |
OMIM:615418 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Pericardial effusion, Hematuria... |
ORPHA:93552 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Multiple bladder diverticula, Proteinuria, Heart murmur |
ORPHA:2728 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... |
OMIM:617729 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Weight loss... |
ORPHA:77297 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertension, Congestive heart failure, Glycosuria |
OMIM:617253 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury |
OMIM:235400 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension |
OMIM:604367 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Focal segm... |
OMIM:617303 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Systemic Sclerosis |
|
Pericarditis, Renal insufficiency, Proteinuria, Nail bed telangiectasia, Abnormality of the kidne... |
ORPHA:90291 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ... |
ORPHA:94093 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis |
OMIM:613834 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... |
OMIM:614376 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epith... |
ORPHA:157 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A... |
ORPHA:900 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Ventricular tachycardia, Cardiomyocyte mitochondrial prolif... |
ORPHA:423 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Left ventri... |
OMIM:209900 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypertension |
ORPHA:1855 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria |
OMIM:607155 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ar... |
ORPHA:33001 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hyp... |
ORPHA:93473 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestationa... |
ORPHA:26793 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegaly, Abnormal myocardium morphology, He... |
ORPHA:77259 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... |
ORPHA:902 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria |
ORPHA:2143 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Lead Poisoning |
|
Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Hypertension, Tubul... |
ORPHA:330015 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypertension, Failure to thrive |
ORPHA:90321 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypertrophic... |
ORPHA:71212 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Orthostatic hypotension ... |
ORPHA:85448 |
Familial Dysautonomia |
|
Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormality of the kid... |
ORPHA:1764 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11-deoxy... |
ORPHA:90795 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery steno... |
OMIM:617913 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... |
OMIM:617713 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension |
ORPHA:79126 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... |
ORPHA:48435 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Cardiac arrest, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Hypertroph... |
OMIM:616878 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Obesity, Enuresis, Abnormal cardiac sep... |
ORPHA:589821 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Increased body weight, Cardiomyopathy, Renal tubular acidosis, Myoglo... |
ORPHA:264580 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Abnormal heart... |
ORPHA:99885 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Hypoperistalsis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss... |
ORPHA:1018 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Proteinuria, Pericardi... |
ORPHA:77261 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... |
ORPHA:394 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Increased body weight |
ORPHA:94086 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary... |
OMIM:614008 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Mitral valve prolapse |
ORPHA:449291 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Hypertension, Urinary bladder sphincter dysfunction, Hypotension |
ORPHA:93256 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Tall stature, Mitral valve prolapse |
OMIM:616914 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Cardiomyopathy, Nephro... |
OMIM:212065 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Melas |
|
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated... |
ORPHA:550 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391428 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... |
ORPHA:99827 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury |
ORPHA:90038 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Weight l... |
ORPHA:465508 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp... |
ORPHA:653 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Hypertension, Micropenis, Failure to thrive, Increased urinary 11-deoxycorticosteron... |
ORPHA:90793 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Micropenis, Hype... |
OMIM:616897 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Hypertension, Ischemic stroke, Aortic valve stenos... |
OMIM:208050 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Hardikar Syndrome |
|
Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Ventricular septal defect, Recurren... |
OMIM:301068 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in... |
OMIM:219800 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalc... |
ORPHA:79259 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Vasculitis, Nephrocalcinosis, Nep... |
ORPHA:342 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure... |
ORPHA:2331 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... |
OMIM:609049 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Large for gestational age, Abnormal heart m... |
ORPHA:254534 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Weight loss, Hematoche... |
OMIM:615846 |
Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight, Abnormal hea... |
OMIM:182290 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Cardiomyopathy, Myoglobinuria |
ORPHA:206549 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vascu... |
OMIM:615688 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Palpitations |
OMIM:255125 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level |
ORPHA:199244 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal aortic valve morphology, Microscopic h... |
ORPHA:86818 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217085 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Splenomegaly, Micropen... |
OMIM:133540 |
Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
Cushing Disease |
|
Increased urinary cortisol level, Myocardial infarction, Increased body weight, Hypertension, Cap... |
ORPHA:96253 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypertension |
ORPHA:786 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217093 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Failure to thrive, Small for gestational age, Mild proteinuria |
OMIM:619147 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis |
OMIM:300519 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis, Obesity |
ORPHA:1435 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... |
OMIM:611962 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Alexander Disease |
|
Hypotension, Hypertension, Failure to thrive, Sudden cardiac death |
ORPHA:58 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hypertension, Ischemic stroke |
ORPHA:542643 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Micropenis, Proteinuria, Obesity |
OMIM:619471 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... |
OMIM:105210 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hypertension, Abnormal cardiac septum morphology |
ORPHA:2588 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Increased... |
ORPHA:2298 |
Insulinoma |
|
Increased body weight, Palpitations |
ORPHA:97279 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Increased body weight, Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria |
OMIM:251900 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ... |
ORPHA:728 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper... |
OMIM:619573 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmi... |
OMIM:216400 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne... |
OMIM:208500 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Fail... |
OMIM:616580 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria |
ORPHA:761 |
Prader-Willi Syndrome |
|
Hypertension, Abdominal obesity, Failure to thrive |
ORPHA:739 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Cardiac conduction abn... |
ORPHA:699 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Failure to thrive, Stage 5 chronic kidney disease, Renal cyst... |
OMIM:266920 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abno... |
ORPHA:470 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Ventricular septal defect, Proteinuria |
OMIM:222448 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Obesity, Low urinary cyclic AMP response to PTH administration |
ORPHA:79443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Decreased body weight... |
OMIM:602535 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Long penis |
OMIM:202010 |
Generalized Pustular Psoriasis |
|
Overweight, Congestive heart failure, Renal insufficiency, Obesity |
ORPHA:247353 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... |
OMIM:194050 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal tubuloi... |
ORPHA:904 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss |
OMIM:619377 |
Congenital Analbuminemia |
|
Small for gestational age, Obesity, Low pulse pressure |
ORPHA:86816 |
Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:311200 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Small for gestational age, Aortic ... |
OMIM:220111 |
Hallermann-Streiff Syndrome |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, Rena... |
OMIM:277900 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno... |
ORPHA:391665 |
Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Obesity, Hypertension... |
OMIM:139210 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Mody |
|
Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria... |
ORPHA:552 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Hepatomegaly |
OMIM:151660 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Failure to thrive in infan... |
ORPHA:51608 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Aminoaciduria, Albuminuria, Failure to thri... |
OMIM:214100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hepatomegaly, Hemoglobinuria |
OMIM:194380 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... |
ORPHA:139417 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Atrial septal defect, ... |
OMIM:613610 |
Holoprosencephaly |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology, Proteinuria,... |
ORPHA:2162 |
Neurofibromatosis, Type I |
|
Hypertension, Overgrowth, Renal artery stenosis |
OMIM:162200 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Disproportionate tall stature, Tall stature, Mucosal telangiecta... |
ORPHA:2463 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa... |
OMIM:270400 |
Acromegaly |
|
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy,... |
ORPHA:963 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... |
OMIM:251300 |
Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv... |
ORPHA:95699 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... |
ORPHA:3472 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Angina pectoris, Obesity, Renal steatosis |
ORPHA:412 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... |
OMIM:233450 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Increas... |
OMIM:117550 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Nephropathy, Stage 5 chronic kidney ... |
ORPHA:90340 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental g... |
OMIM:619127 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Decreased urinary potassium, Shortened PR interval, Obesity, Weight loss, ... |
ORPHA:79102 |
Somatomammotropinoma |
|
Dysuria, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Tall stature |
ORPHA:314769 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Ventricular septal defect, Abnormal pulmonary val... |
ORPHA:567 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V... |
OMIM:122470 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
Atypical Werner Syndrome |
|
Renal neoplasm, Failure to thrive, Telangiectasia of the skin, Congestive heart failure, Aortic v... |
ORPHA:79474 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:881 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Proteinuria |
ORPHA:1272 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Vesicovaginal fistula, Ureteropelvic junction obstruction |
OMIM:300896 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Hemoglobinuria |
OMIM:300908 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Polyuria, Hypertension, Pulmonary arterial hy... |
OMIM:606721 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... |
OMIM:252500 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Nephrolithiasis, Hypercalciuria, Weight loss, Melena, Hyperte... |
ORPHA:652 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Failure to thrive |
OMIM:230000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Failure to thrive, Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasi... |
OMIM:210710 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Tall stature, Nephroblastoma, Cardiomegaly, Large for gestati... |
ORPHA:116 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Myocardial infarction, Increased body weight, Weight loss, Hype... |
ORPHA:99889 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Atrioventricular bl... |
ORPHA:581 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Joubert Syndrome 39 |
|
Overweight, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Neurofibromatosis Type 1 |
|
Hypertension, Tall stature, Abnormality of the upper urinary tract |
ORPHA:636 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Glycogen Storage Disease Xii |
|
Splenomegaly, Hepatomegaly, Hemoglobinuria |
OMIM:611881 |
Carney Complex |
|
Cardiac myxoma, Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity,... |
ORPHA:1359 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight |
OMIM:608013 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Obesity |
OMIM:619269 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Proteinuria |
OMIM:616682 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Increased body weight, Abdominal obesity, Atrial septal defect, Micropenis, Failure to thrive |
ORPHA:398069 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Severe failure ... |
ORPHA:97297 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Abnormal heart morphology, Hypertension, R... |
ORPHA:97685 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... |
OMIM:308205 |
Ogden Syndrome |
|
Atrial septal defect, Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, ... |
OMIM:300855 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Abetalipoproteinemia |
|
Hepatomegaly, Congestive heart failure, Failure to thrive, Cardiomegaly |
ORPHA:14 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem... |
OMIM:619991 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Micropenis, Hepatomegaly, Portal hyp... |
ORPHA:64 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypospadias, Small for gestational age, Vesicovaginal fistula, Horseshoe kidney, Hypertension, Ch... |
OMIM:201750 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def... |
OMIM:619525 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Obesity |
OMIM:614231 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi... |
ORPHA:286 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
OMIM:618278 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy |
ORPHA:51 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Arrhythmia, Failure to thrive |
OMIM:256040 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephro... |
ORPHA:79318 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
Preeclampsia/Eclampsia 5 |
|
|
OMIM:614595 |