Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
corin, serine peptidase
Synonyms:
Lrp4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Corin mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Corin by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Hypertension, Chronic kidney disease, Smal... ORPHA:275555
Preeclampsia/Eclampsia 5
OMIM:614595

The table below shows human diseases predicted to be associated to Corin by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Hypertension, Glomerulopathy, Microscopic hematuria, Stage 5... OMIM:137950
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephrit... OMIM:161900
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Hypertension, Proteinuria ORPHA:2820
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Trimethylaminuria
Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Myocardial ... ORPHA:54370
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Hypertension, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:268500
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Denys-Drash Syndrome
Nephropathy, Hypertension, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Proteinuria, Hypertension, Focal segmental glomerulosclerosis OMIM:603278
Paragangliomas 6
Hypertension OMIM:618464
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hypertension, Obesity ORPHA:71529
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Hypertension, Chronic kidney disease, Smal... ORPHA:275555
Lcat Deficiency
Hematuria, Hypertension, Hepatomegaly, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Elevate... OMIM:121300
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Hypertension, Abnormal glomerular mesangium morphology, Glomerulonephritis, ... ORPHA:567544
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hypertension, Myocardial infarction, Truncal obesity, Abdominal obesity OMIM:615812
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Hypertension, Glomerulopathy, Congestive heart failure, Renal insufficie... ORPHA:225
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Nephrocalcinosis, Congestive heart failure, Hypertension OMIM:614473
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Liddle Syndrome
Arrhythmia, Nephropathy, Hypertension, Cerebral ischemia, Renal insufficiency ORPHA:526
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... ORPHA:976
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypertension OMIM:618681
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension, Obesity OMIM:615703
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Cirrhosis, Familial
Pulmonary arterial hypertension, Increased level of L-fucose in urine, Hypertension OMIM:215600
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Glutaric Aciduria Iii
Glutaric aciduria, Failure to thrive, Hypertension OMIM:231690
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension OMIM:610947
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Hypertension, Chronic kidney disease, Proteinuria OMIM:123550
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Failure to thrive, Hypertension OMIM:605711
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Hypertension, Proteinuria OMIM:166300
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Arrhythmia, Hypertension ORPHA:3222
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Ischemic stroke, Achalasia, Hypertension OMIM:615750
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Elevated urinary norepinephrine, Episodic hypertension, Cerebral... OMIM:171420
C3 Glomerulopathy
Hematuria, Acute kidney injury, Hypertension, Membranoproliferative glomerulonephritis, Chronic k... ORPHA:329918
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Hypertension, Renal tubular acidosis, Pulmonic... OMIM:610205
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... OMIM:203780
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Liddle Syndrome 3
Hypertension OMIM:618126
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Hypertension, Abdominal obesity OMIM:615954
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral reg... OMIM:173900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Recurrent urinary tract infections, Hypertension, Dextrocardia, Polycysti... OMIM:613095
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Hypertension OMIM:616069
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Proteinuria OMIM:614034
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Nephropathy, Weight loss, Atrioventricular block, Cardiome... ORPHA:85447
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephropathy, Hypertension, Nephrotic syndrome, Proteinuria ORPHA:1192
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation, Renal dysplasia, Small for gestati... OMIM:616733
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Hypertension, Glycosuria, Stage 5 chronic kidney dise... OMIM:618913
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Hypertension, Small for gestational age, Bicuspid aortic valve, Pulmonary a... OMIM:613355
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Hypertension, Stage 5 chronic kidney disease ORPHA:3156
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypertension OMIM:201910
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Nephroblastoma
Nephroblastoma, Weight loss, Hematuria, Hypertension ORPHA:654
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Ethanolaminosis
Cardiomegaly OMIM:227150
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Failure to thrive, Nephrolithiasis, Hypertension ORPHA:189427
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Renal amyloidosis, Proteinuria, Abnormal car... ORPHA:439232
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Abnormal heart morphology, ... ORPHA:85445
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Nephropathy, Weigh... ORPHA:330001
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension, Ventricular septal defect OMIM:617021
Xfe Progeroid Syndrome
Renal insufficiency, Cachexia, Hypertension, Proteinuria OMIM:610965
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Polyarteritis Nodosa
Pericarditis, Cardiomyopathy, Hypertension, Weight loss, Abnormality of the kidney, Raynaud pheno... ORPHA:767
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine, Elevated urinary homovanillic acid, Hypertension, Weight loss, Abnorma... OMIM:256700
Pseudo-Torch Syndrome 3
Acute kidney injury, Hypertension, Cerebral hemorrhage, Cardiomegaly, Proteinuria OMIM:618886
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Transien... ORPHA:36382
Non-Functioning Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:94080
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension ORPHA:79084
Fabry Disease
Arrhythmia, Angina pectoris, Urinary mulberry cells, Hypertension, Lipiduria, Myocardial infarcti... OMIM:301500
Rhabdoid Tumor
Renal neoplasm, Hematuria, Internal hemorrhage, Hypertension, Weight loss ORPHA:69077
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hypertension OMIM:103900
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Hypertension,... OMIM:602088
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Frasier Syndrome
Focal segmental glomerulosclerosis, Hypertension, Glomerulopathy, Nephroblastoma, Nephrotic syndr... ORPHA:347
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension, Splenomegaly OMIM:133100
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity OMIM:615988
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hypertrophic cardiomyopathy OMIM:615418
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Obesity, Decreased QR... ORPHA:66529
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Left ventricular hypertrophy, Failure to thrive, Abnormal urin... ORPHA:320
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Renal insufficiency, Proteinuria ORPHA:54057
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypercalciuria, Prolonged QT interval, Left ven... ORPHA:251274
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Potocki-Shaffer Syndrome
Nephroblastoma, Micropenis, Hypertension ORPHA:52022
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Hypertension, Glomerulonephritis, Glomerular basement membrane la... OMIM:104200
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Bardet-Biedl Syndrome 12
Abnormality of the kidney, Obesity OMIM:615989
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:276621
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity OMIM:615995
Apparent Mineralocorticoid Excess
Failure to thrive, Small for gestational age, Hypertension OMIM:218030
Cednik Syndrome
Congestive heart failure, Proteinuria, Nephrotic syndrome ORPHA:66631
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Pheochromocytoma
Positive regitine blocking test, Elevated urinary norepinephrine, Episodic hypertension, Cerebral... OMIM:171300
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Recurrent urinary... ORPHA:730
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Obesity OMIM:618620
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Elevated urinary dopamine, Elevated urinary norepinephrine, Elevated urinary epinep... OMIM:171400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Hypertension, Tachycardia, Micropenis OMIM:613870
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Hypertension, Proteinuria OMIM:191830
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hepatomegaly, Large for gestational age, Nephrocalc... OMIM:616026
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Glomerular sclerosis, Hypertension, R... OMIM:174000
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Ventricular septal defect, Bilateral rena... ORPHA:411709
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:340
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Incre... OMIM:256550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Abnormality of the kidney, Proteinuria ORPHA:369
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity ORPHA:369873
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Unilateral renal agene... ORPHA:2260
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertension OMIM:608600
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Hypertension, Microscopic hematuria, Glomerular basement ... OMIM:301050
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubular atrophy, Nephrotic s... OMIM:616730
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Hypertension, Pulmona... OMIM:608406
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Glomerulopathy, Vasculitis, Proteinuria ORPHA:375
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hypertension, Hepatomegaly, Ab... OMIM:263200
Sickle Cell Anemia
Hematuria, Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Liddle Syndrome 1
Renal insufficiency, Hypertension OMIM:177200
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Obesity, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Obesity OMIM:605231
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarction, Renal insufficiency, Nephri... ORPHA:182050
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Membranoproliferative glomerulonephritis, Obesity, Macroscopic hem... ORPHA:251004
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Cor pulmonale, Small for gestational age, Nephrotic syndrome, Proteinuria OMIM:215250
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Liddle Syndrome 2
Hypertension OMIM:618114
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney, Obesity OMIM:615993
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Hypertension OMIM:613677
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Endocarditis, Proteinuria, Abnormal pericardium morphology, Recur... ORPHA:183
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys OMIM:619111
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria OMIM:145600
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:29072
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Al Amyloidosis
Abnormality of the kidney, Arrhythmia, Monoclonal light chain cardiac amyloidosis, Albuminuria, G... ORPHA:85443
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Right ventricular hypertrophy, Hypertension OMIM:613623
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Bardet-Biedl Syndrome
Hypertension, Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of penis, Obesity ORPHA:110
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hepatomegaly, Tachycardia, Increased body weight, Renal Fanconi syndrome, Large for g... ORPHA:263455
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation, Obesity OMIM:614651
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Hypertension ORPHA:189439
Tetanus
Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypertension, Tachycardia, Bradyca... ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Small for gestational age, Cardiomegaly, Hypertension OMIM:613320
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hepatomegaly, Failure to thrive, Renal... OMIM:220110
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Riboflavin Transporter Deficiency
Cachexia, Hypertension ORPHA:97229
Porphyria, Acute Intermittent
Dysuria, Hypertension, Urinary incontinence, Tachycardia, Urinary retention, Elevated urinary del... OMIM:176000
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stress urinary incontinence, Intracranial hemorrhage, Hypertension, Cerebral hem... ORPHA:136
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Increased urinary potassium, Abno... ORPHA:231625
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Renal insufficiency, Proteinuria ORPHA:319218
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Tachycardia, Recurrent myoglobinuria, Ex... ORPHA:368
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hepatomegaly, Failure to thrive, Renal... ORPHA:436271
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Failure to thrive, Pulmonary arterial hypertension, Right bundle... OMIM:614008
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Pulmonary embolism, Abnorma... ORPHA:567548
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Galactosemia I
Albuminuria, Aminoaciduria, Hepatomegaly, Increased level of galactitol in urine, Galactosuria, F... OMIM:230400
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Congestive heart failure, Cardiomegaly, Failure to thrive, Sple... OMIM:269920
Stiff Skin Syndrome
Nephrolithiasis, Hypertension ORPHA:2833
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension OMIM:615830
Porphyria
Abnormal urinary color, Hypertension ORPHA:738
Primary Unilateral Adrenal Hyperplasia
Palpitations, Increased urinary potassium, Epistaxis, Hypertension ORPHA:231580
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Subarachnoid hemorrhage, Transient ischemic attack, Hypertension ORPHA:231160
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubular atrophy, Nephrotic s... OMIM:618348
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Gastrointestinal hemorrhage, Glomerulopathy, Hepatomegaly, Spleno... ORPHA:91138
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria ORPHA:119
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Hypertension, Nephroblastoma, Stage 5 chronic ki... OMIM:194080
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy OMIM:231530
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, ... OMIM:613845
Distal 16P11.2 Microdeletion Syndrome
Obesity, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney... ORPHA:261222
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Hypertension, Renal tubular atrophy, Renal corticomedullary cysts, Tubular base... OMIM:613159
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Palpitations, Increased urinary cortisol level, Weight loss, Hy... ORPHA:1501
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Hypertension, N... ORPHA:1830
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased body weight ORPHA:890
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Proteinuria, Weight loss, Microscopic hematuria, Tachycardia,... ORPHA:71273
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Hypertension OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Hypertension OMIM:610489
Cystinosis
Renal insufficiency, Aminoaciduria, Nephropathy, Failure to thrive, Portal hypertension, Renal tu... ORPHA:213
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Hypertension, Cerebral ischemia, Nephrotic syndrome, Renal in... OMIM:242900
Gaucher Disease, Type I
Epistaxis, Hypertension, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Pulmonary arterial hy... OMIM:230800
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... OMIM:232240
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity OMIM:615996
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... ORPHA:99829
Fabry Disease
Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Renal insufficiency, Tra... ORPHA:324
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276556
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Endocarditis, Hypotension, Splenomegaly, Myocarditis, Renal ... ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Arrhythmia, Ventricular hypertrophy, Hepatomegaly, Myoglobinuria, Cardiomyopathy ORPHA:228305
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Failure to thri... OMIM:212140
Cushing Disease
Hypertension, Telangiectasia of the skin, Truncal obesity, Failure to thrive, Nephrolithiasis, Ca... ORPHA:96253
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension OMIM:208060
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aminoaciduria, Aortic regurgitation, Proteinuria OMIM:603585
Mercury Poisoning
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:330021
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertension ORPHA:363400
Joubert Syndrome 32
Large for gestational age, Tall stature, Hypertrophic cardiomyopathy OMIM:617757
Juvenile Paget Disease
Hypertension ORPHA:2801
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Cardiomyopathy, Glomerular scleros... ORPHA:247691
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Epistaxis, Hypertension ORPHA:231632
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic regurgitation, Hypertension, Heart mur... ORPHA:402075
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Decreased body weight, Proteinuria OMIM:618347
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Vasculitis, Total anomalous ... ORPHA:494424
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Hypertension, Small for gestational age, Failure to thrive, Hypospadias, 3-Methylglut... OMIM:614052
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Sudden cardiac death, Hepatomegaly, Cardiomegaly, Dicarboxylic aciduri... OMIM:201475
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Hypertension, Pulmonary embolism, Microscopic he... ORPHA:567546
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrhage, Telangie... OMIM:192315
Summitt Syndrome
Obesity OMIM:272350
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:266500
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Hellp Syndrome
Acute kidney injury, Internal hemorrhage, Hypotension, Hemoglobinuria, Cerebral hemorrhage, Incre... ORPHA:244242
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hypertension, Hepatomegaly, Splenomegaly, Renal cyst... OMIM:216360
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Hepatomegaly, Cardiomyopathy, Proteinuria ORPHA:79086
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hypertension, Decreased glomerular filtratio... OMIM:232200
Primary Lipodystrophy
Angina pectoris, Hypertension, Congestive heart failure, Splenomegaly, Cardiomyopathy ORPHA:90970
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Hypertension OMIM:219080
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Bardet-Biedl Syndrome 8
Obesity, Renal dysplasia, Situs inversus totalis, Hypospadias OMIM:615985
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Renal insufficiency, Diff... OMIM:256300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276575
Caudal Regression Sequence
Renal agenesis, Hypertension, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, R... ORPHA:3027
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardi... ORPHA:401923
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Hypertension, Abnormality of the ureter, Telangi... ORPHA:52
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Hypertension, Tachycardia, Chroni... ORPHA:79473
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619064
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Large vessel vasculitis, Re... ORPHA:49041
Bardet-Biedl Syndrome 3
Renal hypoplasia, Tricuspid regurgitation, Obesity OMIM:600151
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Alstrom Syndrome
Hypertension, Hepatomegaly, Truncal obesity, Congestive heart failure, Tubulointerstitial nephrit... OMIM:203800
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hematuria, Abnormal heart valve morphology, Pericardial effusion, Glomer... ORPHA:36412
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Nephrolithiasis, Hypertension, Obesity OMIM:219090
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Congestive heart failure, Small for gestational age, Failure to thrive, Myoglobinuria... OMIM:609015
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276580
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hypovolemia, Hyperp... ORPHA:47159
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Hepatomegaly, Congestive hear... ORPHA:525731
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hypertension, Decreased glomerular filtratio... OMIM:232220
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Joubert Syndrome 14
Renal cyst, Hypertension OMIM:614424
Acute Intermittent Porphyria
Dysuria, Dark urine, Elevated urinary delta-aminolevulinic acid, Hypertension, Urinary incontinen... ORPHA:79276
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Obesity OMIM:615994
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Sy... ORPHA:324575
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Hypertension, Hepatomegaly, Ketonuria ORPHA:134
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight ORPHA:276608
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Sp... OMIM:252920
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Nephrotic range pr... ORPHA:93126
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Arrhythmia, Cystic renal dysplasia, Renal tubular epithelial necrosis, Myoglobin... ORPHA:228308
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Failure to thrive, Hypertension, Glomerulopathy ORPHA:2169
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Hypovolemia, Proximal tubulopathy, Abn... ORPHA:411634
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Left anterior fascicu... ORPHA:437572
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Hemolytic-uremic syndrome, Myocardial infarction, Microscopic hematuri... OMIM:274150
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic acid... ORPHA:42
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Stage 5 chronic kidney disease, Nephrotic syndrome, Failure t... OMIM:617729
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosis, Atrial fibr... ORPHA:31826
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Acute kidney injury, Myoglobinuria ORPHA:57
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Arrhythmia, Cardiomegaly, Hepatomegaly OMIM:255120
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Hematuria, Prolonged QRS complex, Supraventricular arrhy... ORPHA:90068
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Tall stature, Abnormal pulmonary valve morphology, Pulmonic stenosis, Overgrowth, Large for gesta... ORPHA:137634
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Short... ORPHA:308552
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Abnormal endocardium mo... ORPHA:758
Buschke-Ollendorff Syndrome
Renal insufficiency, Hypertension ORPHA:1306
Bardet-Biedl Syndrome 1
Hypertension, Left ventricular hypertrophy, Micropenis, Abnormality of the kidney, Obesity OMIM:209900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Atrial septal defect, Proteinuria, Multiple bladder diverticula ORPHA:2728
Alkaptonuria
Abnormal heart valve morphology, Mitral valve calcification, Aminoaciduria, Hypertension, Myocard... ORPHA:56
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hepatomegaly, Congestive heart failure, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:79083
Popov-Chang syndrome
Pulmonic stenosis, Failure to thrive, Hypertension OMIM:618428
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricular hypertrophy,... OMIM:615355
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Renal amyloidosis, Proteinuria OMIM:134610
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Pediatric Systemic Lupus Erythematosus
Hematuria, Pericardial effusion, Dark urine, Abnormality of the urinary system, Nephrotic syndrom... ORPHA:93552
Congenital Hypothyroidism
Arrhythmia, Hypotension, Abnormal pericardium morphology, Hypertension, Nephrolithiasis ORPHA:442
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Monosomy 18P
Hypertension ORPHA:1598
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart failure, Pulmonary ar... ORPHA:220393
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Nephroblastoma, Cardiomegaly, Perica... OMIM:253250
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension ORPHA:75567
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Patent foramen ovale, Enlarged kidney, Proteinuria, Abnormal heart morpholo... ORPHA:505248
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Acute kidney injury, Hypertension OMIM:235400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Renal tub... OMIM:617303
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Renal cell carcinoma, Tachycardia, E... OMIM:115310
Serotonin Syndrome
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:43116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Majeed Syndrome
Weight loss, Glomerulopathy, Hepatomegaly, Microscopic hematuria, Cachexia, Failure to thrive, Sp... ORPHA:77297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiom... OMIM:105210
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Hematuria, Weight loss, Proteinuria ORPHA:90060
Myopathy With Lactic Acidosis, Hereditary
Palpitations, Myoglobinuria OMIM:255125
Systemic Sclerosis
Abnormality of the kidney, Intestinal bleeding, Pericarditis, Right ventricular failure, Nail bed... ORPHA:90291
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenos... OMIM:208050
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Papillary renal cel... ORPHA:363618
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Arrhythmia, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomeg... ORPHA:157
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Glomerular sclerosis, Hypertrophic cardiomyopathy OMIM:607426
Neuroleptic Malignant Syndrome
Arrhythmia, Acute kidney injury, Hypotension, Hypertensive crisis, Hypertension, Urinary incontin... ORPHA:94093
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pericardial effusion, Granulomatous coronary arteritis, Hypertension OMIM:108050
Granulomatosis With Polyangiitis
Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Angina pec... ORPHA:900
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hepatomegaly, Hypercalciuria, Renal tubular dysfunc... OMIM:277900
Lymphedema-Distichiasis Syndrome
Arrhythmia, Recurrent urinary tract infections, Glomerulopathy, Tubulointerstitial nephritis, Ren... ORPHA:33001
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Gitelman Syndrome
Nocturia, Pericardial effusion, Abnormal T-wave, Syncope, Low-to-normal blood pressure, Renal pot... ORPHA:358
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Spondyloenchondrodysplasia
Hematuria, Hypertension, Chronic kidney disease, Vasculitis, Raynaud phenomenon, Proteinuria ORPHA:1855
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Ventricular extrasystoles, Myoglobinuria, Ventricular tachycardia, Supravent... ORPHA:423
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Orthostatic hypotension, Glomerular sclerosis, Hypertension, Tachycardia OMIM:223900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Abnormal left ventricular function, Exercise-induced myoglobinuria OMIM:607155
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Subaortic Stenosis-Short Stature Syndrome
Obesity, Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Von Hippel-Lindau Disease
Palpitations, Arrhythmia,