Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Hypertension |
ORPHA:3188 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... |
OMIM:601894 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinuria, Glomer... |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... |
OMIM:161900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly |
OMIM:602079 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... |
ORPHA:275555 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Tachycardia, Elevated urinary delt... |
OMIM:121300 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... |
ORPHA:567544 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Proteinuria, Renal insufficiency, Glomerulopathy, Hypertension, Hypertrophic cardiomy... |
ORPHA:225 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure |
OMIM:614473 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypertension, Coronary artery stenosis |
OMIM:615812 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Liddle Syndrome |
|
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Obesity, Hypertension, Congestive heart failure |
OMIM:615703 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension |
OMIM:123550 |
Narcolepsy Type 1 |
|
Obesity, Syncope |
ORPHA:2073 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, White eyebrow, Vitiligo, White hair |
OMIM:227010 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension, Failure to thrive |
OMIM:605711 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Glutaric Aciduria Iii |
|
Hypertension, Failure to thrive, Glutaric aciduria |
OMIM:231690 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Ischemic stroke, Hypertension, Raynaud phenomenon |
OMIM:615750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Myocardial infarction, Sudden cardiac death, Hypertension |
OMIM:610947 |
Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars... |
ORPHA:189 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein... |
OMIM:171420 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Hypertension, Increased body weight, Increased urinary cortisol level |
OMIM:615954 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... |
OMIM:618061 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Small for gestational age, Hypertension, Pulmonary a... |
OMIM:613355 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Arrhythmia, Nephropathy, Weight loss, Cardiomegaly, Cardiomyopathy, At... |
ORPHA:85447 |
Grange Syndrome |
|
Ventricular septal defect, Hypertension, Aortic regurgitation |
ORPHA:79094 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... |
OMIM:173900 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Proteinuria, Hypertension |
ORPHA:1192 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive |
OMIM:616069 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticom... |
OMIM:616733 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:618913 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:607624 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Nephroblastoma |
|
Hypertension, Weight loss, Nephroblastoma, Hematuria |
ORPHA:654 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Abnormal renal medulla morpholo... |
ORPHA:439232 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Hypertension, Arrhythmia |
OMIM:617021 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmi... |
ORPHA:330001 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hy... |
ORPHA:2704 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Abnormality of the kidney, Weight loss, Hypertension, Pericarditis, Cardiomyo... |
ORPHA:767 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, Albinism, White eyelashes, White eyebrow, Synophry... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Ventricular sep... |
OMIM:301500 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... |
ORPHA:3287 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Proteinuria, Acute kidney injury, Hypertension, Cardiomegaly |
OMIM:618886 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac... |
OMIM:256700 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ischemia, Hypertension, Transien... |
ORPHA:36382 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Hypertension, Stage 5 chronic kidney d... |
OMIM:166300 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatomegaly |
ORPHA:79084 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Abnormality of the kidney |
OMIM:615988 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Cerebral hemorrhage, Splenomegaly |
OMIM:133100 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension, Abnormality of the urinary system |
OMIM:103900 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Internal hemorrhage, Hypertension, Weight loss |
ORPHA:69077 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Hematuria, Myocardial infarction, Renal insufficiency, Proteinuria, Acute kidney injury |
ORPHA:54057 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency |
OMIM:615987 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal insuf... |
ORPHA:320 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Potocki-Shaffer Syndrome |
|
Hypertension, Nephroblastoma, Micropenis |
ORPHA:52022 |
Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Nephritis, Hematuria, Proteinuria, Hypertension, Diffuse alveolar hemorrhage, Epist... |
OMIM:614034 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Prolonged QT interval, Hyp... |
ORPHA:251274 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Pheochromocytoma |
|
Renal artery stenosis, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodi... |
OMIM:171300 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Myocardial infarction, Obesity, Hypertension |
OMIM:618620 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Abnormality of the kidney |
OMIM:615989 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Congestive heart failure |
ORPHA:66631 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... |
OMIM:615474 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Failure to thrive, Small for gestational age |
OMIM:218030 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... |
ORPHA:93110 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... |
OMIM:178600 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormality of the kidney, Proteinuria, Hypertrophic cardiomyopathy |
ORPHA:369 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Obesity, Ventricular septal hypertrophy |
OMIM:614947 |
Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Small... |
ORPHA:2260 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... |
ORPHA:93108 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... |
OMIM:256550 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Micropenis, Tachycardia, Ventricular septal defect, Hypertension |
OMIM:613870 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary vanillylmandelic acid, Elevated urinary dopamine, Palpitations, Hypertension, El... |
OMIM:171400 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Situs inversus totalis, D... |
OMIM:613095 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hypertension |
OMIM:615980 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Vasculitis, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
Sneddon Syndrome |
|
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly |
OMIM:608600 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:608406 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... |
OMIM:263200 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Small for gestational age, Cor pulmonale, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1349 |
Myh9-Related Disease |
|
Nephritis, Nephropathy, Myocardial infarction, Spontaneous, recurrent epistaxis, Renal insufficie... |
ORPHA:182050 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Myoglobinuria, Hypotension |
OMIM:145600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Hy... |
ORPHA:251004 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency |
OMIM:177200 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:608709 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Al Amyloidosis |
|
Abnormal heart morphology, Abnormal cardiac ventricle morphology, Hepatomegaly, Abnormal P wave, ... |
ORPHA:85443 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension |
OMIM:613877 |
Simple Cryoglobulinemia |
|
Abnormal heart morphology, Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Raynaud phe... |
ORPHA:91139 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Pul... |
ORPHA:729 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:620010 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Obesity |
OMIM:615993 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... |
OMIM:614817 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Sickle Cell Anemia |
|
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Hypertension, Cardiomegaly |
OMIM:603903 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Re... |
OMIM:619487 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension |
ORPHA:280356 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Aminoaciduria, Right ventricular hypertr... |
OMIM:613404 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Renal artery stenosis, Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly,... |
OMIM:208000 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys |
OMIM:619111 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Hematuria, My... |
ORPHA:183 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria |
OMIM:613677 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension, Obesity |
OMIM:614651 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Obesity |
ORPHA:110 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Premature graying of hair, Hypopigmentation of hair, Hypopigmentat... |
ORPHA:33445 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy |
OMIM:613623 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Hepatomegaly |
OMIM:615238 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Glycosuria, Large for gestational age, Renal Fanconi syndrome, Protein... |
ORPHA:263455 |
Tetanus |
|
Tachycardia, Hypertension, Elevated urinary epinephrine, Elevated urinary norepinephrine, Bradyca... |
ORPHA:3299 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Tachycardia, Acute kidney injury, Ex... |
ORPHA:368 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Small for gestational age |
OMIM:613320 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia |
ORPHA:97229 |
Porphyria, Acute Intermittent |
|
Dysuria, Tachycardia, Elevated urinary delta-aminolevulinic acid, Urinary retention, Hypertension... |
OMIM:176000 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Aminoaciduria, Glycosuria, Large for gestational age, Proteinuria, Hyperphosphaturi... |
OMIM:616026 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricul... |
ORPHA:369929 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart... |
OMIM:269920 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... |
ORPHA:136 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Increased urinary potassium, Palpitations, Intracranial hemorrhage, Hypertension... |
ORPHA:231625 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Hepatomegaly, Aminoaciduria, Glycosuria, Renal Fanc... |
ORPHA:436271 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... |
ORPHA:567548 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Increased body weight |
OMIM:615830 |
Porphyria |
|
Abnormal urinary color, Hypertension |
ORPHA:738 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Hypertension |
ORPHA:2833 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Hypertension, Nephroblastoma, Obesity, Proteinuria |
OMIM:612469 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Weight loss |
ORPHA:100024 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Obesity |
ORPHA:77296 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Splenomegaly, Hematuria, Vasculitis, Proteinuria, Renal insufficiency, Glomerulopat... |
ORPHA:91138 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Pulmona... |
OMIM:613845 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... |
OMIM:615244 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... |
OMIM:613159 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Cardiomyopathy |
ORPHA:119 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Obesity, Vesicour... |
ORPHA:261222 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Hepatomegaly, Renal insufficiency |
ORPHA:890 |
Adrenocortical Carcinoma |
|
Palpitations, Increased body weight, Abnormality of urine homeostasis, Hypertension, Weight loss,... |
ORPHA:1501 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis, Increased urinary potassium |
ORPHA:231580 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Myoglobinuria, Hypertrophic cardiomyopathy |
OMIM:231530 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Nephropathy, Proteinuria, Portal hyp... |
ORPHA:213 |
Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... |
OMIM:300555 |
Systemic Lupus Erythematosus 17 |
|
Mitral regurgitation, Raynaud phenomenon, Hypertensive crisis |
OMIM:301080 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Galactosemia I |
|
Failure to thrive, Increased level of galactitol in urine, Hepatomegaly, Aminoaciduria, Galactosu... |
OMIM:230400 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Hematuria, Syncope, Proteinuria, Weight loss, Microscopic h... |
ORPHA:71273 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Increased urinary cortisol level, Truncal obesity |
OMIM:610489 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Nephrotic range proteinuria, Small for gestational age, Nephropathy, Cerebral ... |
ORPHA:1830 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria |
ORPHA:839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Failure to thrive, Hepatomegaly, Aminoaciduria, Glycosuria, Renal Fanc... |
OMIM:220110 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Proteinuria, Aminoaciduria |
OMIM:603585 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... |
OMIM:261740 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... |
OMIM:134600 |
Legionnaires Disease |
|
Splenomegaly, Arrhythmia, Endocarditis, Myocarditis, Hypotension, Hematuria, Proteinuria, Renal i... |
ORPHA:549 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency |
OMIM:615996 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Failure to thrive in infancy |
ORPHA:834 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Hypertension, Pulmonary ... |
OMIM:230800 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous return, ... |
ORPHA:494424 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Macroscopic hematuria, Pulmonary embolism, Focal segmental glomeruloscler... |
ORPHA:567546 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity, Hypospadias, Renal dysplasia |
OMIM:615985 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276556 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hepatomegaly |
ORPHA:363400 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... |
OMIM:212140 |
Joubert Syndrome 32 |
|
Large for gestational age, Hypertrophic cardiomyopathy, Tall stature |
OMIM:617757 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Hematuria, Proteinuria, Gastroint... |
OMIM:192315 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... |
ORPHA:324 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Decreased glomerular filtration rate, Spider hemangioma, Hematuria, Focal segmental... |
OMIM:232240 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myoglobinuria, Arrhythmia, Red-brown urine, Ventricular hypertrophy, Cardiomyopathy |
ORPHA:228305 |
Primary Lipodystrophy |
|
Angina pectoris, Splenomegaly, Hypertension, Cardiomyopathy, Congestive heart failure |
ORPHA:90970 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Coach Syndrome 1 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Multiple sma... |
OMIM:216360 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia, Tricuspid regurgitation |
OMIM:600151 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Hypertension, Retinal neovascularization, Nephropathy, Proteinuria, Gastroint... |
ORPHA:247691 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... |
OMIM:300257 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension |
OMIM:208060 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... |
OMIM:617595 |
Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis, Renal cortical adenoma |
ORPHA:231632 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hemoglobinuria, Hypotension, Proteinuria, Internal hemorrhage, Acute kidney ... |
ORPHA:244242 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Truncal obesity |
OMIM:219080 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... |
ORPHA:84081 |
Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Small for gestational age, Cerebral ischemia, Focal segmental glomerulosclero... |
OMIM:242900 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased body weight, Proteinuria |
OMIM:618347 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... |
ORPHA:401923 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Proteinuria, Hypertension, Cardiomyopathy |
ORPHA:79086 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Truncal obesity |
OMIM:610475 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Hypertension, Overweight |
ORPHA:69663 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Dec... |
ORPHA:340 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276575 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Renal insufficiency, Ectopic kid... |
ORPHA:3027 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Abnormal cardiac septum morphology, Abnormal left ventricular fun... |
ORPHA:437572 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Proteinuria, Renal insufficiency, Abnormal... |
ORPHA:36412 |
Joubert Syndrome 14 |
|
Hypertension, Renal cyst |
OMIM:614424 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Small for gest... |
OMIM:256300 |
Alagille Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Atrial septal de... |
ORPHA:52 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypert... |
OMIM:201475 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive, Small for gestational age, Myoglobinuria, Arrhythmia, Dilated cardiomyopathy, ... |
OMIM:609015 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Porphyria Variegata |
|
Chronic kidney disease, Tachycardia, Elevated urinary delta-aminolevulinic acid, Increased urinar... |
ORPHA:79473 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Failure to thrive, Small for gestational age, Hypospadias, Arrhythmia, 3-Methylglutaconic aciduri... |
OMIM:614052 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Hypertension, Nephrolithiasis, Obesity |
OMIM:219090 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertrophic cardiom... |
ORPHA:276580 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... |
OMIM:232200 |
Alstrom Syndrome |
|
Hepatomegaly, Nephritis, Truncal obesity, Tubulointerstitial nephritis, Dilated cardiomyopathy, R... |
OMIM:203800 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria |
OMIM:615605 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Budd-Chiari syndrome, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascula... |
ORPHA:49041 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Hepatomegaly, Sinus tachycardia, Splenomegaly, Palpitations, Hypertension, Atr... |
ORPHA:525731 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Aminoaciduria, Hypovolemia, Hyperuricosuria, Glycosuria, Glob... |
ORPHA:47159 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Nephrolithiasis, Increased body weight, Renal cell carcinoma, Hypertension, In... |
ORPHA:189427 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Aminoaciduria, Hypovolemia, G... |
ORPHA:411634 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Palpitations, Tachycardia, Syncope, Large for gestationa... |
ORPHA:324575 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Tachycardia, Elevated urinary delta-aminolevulinic acid, Increased urinary p... |
ORPHA:79276 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Myoglobinuria, Arrhythmia, Cystic renal dysplasia, Red-brown urine, Dicarboxylic ac... |
ORPHA:228308 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... |
OMIM:232220 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Tachycardia |
ORPHA:276608 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... |
OMIM:300009 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Renal insufficiency, Proteinuria, Hypertension |
OMIM:610965 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Myocardial infarction, Hypernatriuria, Nephrocalcinosis, Obesity, H... |
ORPHA:90041 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hepatomegaly, Hypotension, Hypertension, Weight loss |
ORPHA:134 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypertension, Failure to thrive, Hemolytic-uremic syndrome |
ORPHA:2169 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Myocardial infarction, Proteinuria, Transient ischemic attack, Microsc... |
OMIM:274150 |
Pauci-Immune Glomerulonephritis |
|
Decreased glomerular filtration rate, Nephrotic range proteinuria, Macroscopic hematuria, Pulmona... |
ORPHA:93126 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Re... |
ORPHA:758 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Nephrolithiasis, Increased body weight, Hypertension, Increased urinary cortis... |
ORPHA:189439 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Arrhythmia, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid... |
ORPHA:42 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypertension, St... |
OMIM:617729 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Renal tubular acidosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Tall stature, Pulmonic stenosis, Overgrowth, Large for gesta... |
ORPHA:137634 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Arrhythmia, Acute kidney injury |
ORPHA:57 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hepatomegaly, Oligosacchariduria, Left ventricular outflow tract obstruction, ... |
ORPHA:308552 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Shock, Renal insufficiency, Renal... |
ORPHA:31826 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hyp... |
OMIM:607426 |
Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:79083 |
Overlap Myositis |
|
Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pulmonary arterial hypertension, Abn... |
ORPHA:206572 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Failure to thrive, Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular baseme... |
OMIM:308940 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Atrial septal defect, Proteinuria, Heart murmur |
ORPHA:2728 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... |
ORPHA:650 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Noonan Syndrome 8 |
|
Failure to thrive, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral ... |
OMIM:615355 |
Buschke-Ollendorff Syndrome |
|
Hypertension, Renal insufficiency |
ORPHA:1306 |
Popov-Chang syndrome |
|
Pulmonic stenosis, Hypertension, Failure to thrive |
OMIM:618428 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Nephritis, Raynaud phenomenon, Abnormality of the urinary system,... |
ORPHA:93552 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Weight loss, Hematuria, Proteinuria |
ORPHA:90060 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Paragangliomas 1 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Alkaptonuria |
|
Nephrolithiasis, Aortic valve calcification, Aminoaciduria, Mitral valve calcification, Myocardia... |
ORPHA:56 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Obesity, Heart murmur |
OMIM:615418 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Nephroblastoma, Cardiomegaly, Conges... |
OMIM:253250 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Majeed Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cachexia, Proteinuria, Glomerulopathy, Weight loss... |
ORPHA:77297 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Pulmonary arteria... |
ORPHA:220393 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Heart murmur, Glomerulonephritis, Diffuse al... |
ORPHA:99931 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Abnormal pericardium morphology, Arrhythmia, Hypotension, Hypertension |
ORPHA:442 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormal left ventricular function, Tall stature, Hypovolemia, Subarachnoi... |
ORPHA:91387 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Renal tubular at... |
OMIM:617303 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Acute kidney injury, Anuria, Hemolytic-uremic syndrome |
OMIM:235400 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Renal hypoplasia, Secundum atrial septal defect, Absence of renal corticomedullary ... |
OMIM:619758 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Systemic Sclerosis |
|
Telangiectasia, Chronic kidney disease, Intestinal bleeding, Raynaud phenomenon, Abnormality of t... |
ORPHA:90291 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Nephropathy, Proteinuria |
ORPHA:2774 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heavy proteinuria, Nephrotic syndrome, Atrial septal defect, Tricuspid regurgitation, Mitral regu... |
ORPHA:505248 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension |
OMIM:604367 |
Myopathy With Lactic Acidosis, Hereditary |
|
Palpitations, Myoglobinuria |
OMIM:255125 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly, Urinary incon... |
OMIM:105210 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Renal insufficiency, Acute kidney inju... |
ORPHA:99845 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... |
ORPHA:324410 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:371428 |
Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Aortic regurgitation, Ventricular hypertroph... |
OMIM:208050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... |
ORPHA:255249 |
Paragangliomas 4 |
|
Hypertension associated with pheochromocytoma, Elevated urinary catecholamines, Palpitations, Tac... |
OMIM:115310 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephr... |
OMIM:614376 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... |
OMIM:618652 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515< |