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Gene: Corin MGI:1349451

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Corin (3 diseases)
Human diseases predicted to be associated with Corin (851 diseases)

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri...	OMIM:620734
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
Preeclampsia/Eclampsia 5		OMIM:614595

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension	ORPHA:2613
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri...	OMIM:161900
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypertension, Myocardial infarction	OMIM:608320
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Preeclampsia/Eclampsia 1	Proteinuria, Hypertension	OMIM:189800
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Trimethylaminuria	Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly	OMIM:602079
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri...	OMIM:620734
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn...	OMIM:105200
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Microscopic hematuria...	ORPHA:84090
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Denys-Drash Syndrome	Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:220
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-...	OMIM:121300
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ...	ORPHA:567544
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Hypertension	ORPHA:2111
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension	ORPHA:526
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Lessel-Kubisch Syndrome	Renal hypoplasia, Hypertension, Renal insufficiency	OMIM:618681
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Morbid Obesity And Spermatogenic Failure	Obesity, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension, Failure to thrive	OMIM:231690
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Alagille Syndrome 2	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ...	OMIM:610205
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Increased urinary cortisol level, Hypertension, Abdominal obesity	OMIM:615954
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Abnor...	ORPHA:85447
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Abnormal mitral valve morphology, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:1192
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Hypertension, Polycystic kidney...	OMIM:173900
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t...	OMIM:615862
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv...	ORPHA:439232
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension	ORPHA:3156
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros...	OMIM:618913
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert...	OMIM:618061
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, H...	OMIM:616733
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome	OMIM:612924
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Nephroblastoma	Hematuria, Weight loss, Hypertension, Nephroblastoma	ORPHA:654
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Arrhythmia, Left ventricular hypertrophy, Wolff-Parkinson-White syndrom...	OMIM:540000
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome	OMIM:612926
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Abnorma...	ORPHA:85445
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Moyamoya Disease 6 With Or Without Achalasia	Hypertension, Ischemic stroke, Achalasia, Raynaud phenomenon	OMIM:615750
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:94080
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Wild Type Attr Amyloidosis	Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Polyarteritis Nodosa	Cardiomyopathy, Weight loss, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericar...	ORPHA:767
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Pseudo-Torch Syndrome 3	Acute kidney injury, Cardiomegaly, Proteinuria, Cerebral hemorrhage, Hypertension	OMIM:618886
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Bardet-Biedl Syndrome 18	Obesity, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce...	ORPHA:3287
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Sneddon Syndrome	Nephropathy, Intracranial hemorrhage, Hypertension	ORPHA:820
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting, Hypertension	OMIM:201910
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert...	OMIM:166300
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension	OMIM:600666
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Truncal obesity, Abdominal obesity, Hypertension, Myocardial infarction	OMIM:615812
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hypertension	ORPHA:79084
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hypertension	OMIM:103900
Narcolepsy Type 1	Obesity, Syncope, Hypertension, Nocturia	ORPHA:2073
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Bardet-Biedl Syndrome 11	Obesity, Abnormality of the kidney	OMIM:615988
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Erythrocytosis, Familial, 1	Splenomegaly, Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocardial infarction	ORPHA:54057
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ...	ORPHA:97362
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Renal insufficiency, Left ventricular hypertrophy, Abnormal ...	ORPHA:320
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Hypertension, Myocardial infarction	OMIM:618620
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension, Decreased urinary potassium	OMIM:611489
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive	OMIM:616069
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Potocki-Shaffer Syndrome	Micropenis, Hypertension, Nephroblastoma	ORPHA:52022
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:276621
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Rhabdoid Tumor	Hematuria, Weight loss, Internal hemorrhage, Renal neoplasm, Hypertension	ORPHA:69077
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula...	OMIM:614096
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Hematuria, Proteinuria, Hepatomegaly, Hyperten...	OMIM:614034
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Bardet-Biedl Syndrome 10	Renal cyst, Obesity, Renal insufficiency	OMIM:615987
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Hypercalciuria, Prolonged QT interval, Intracranial hemo...	ORPHA:251274
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Cednik Syndrome	Proteinuria, Nephrotic syndrome, Congestive heart failure	ORPHA:66631
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Failure to thrive	OMIM:218030
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Liddle Syndrome 1	Hypertension, Renal insufficiency	OMIM:177200
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ...	OMIM:174000
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney, Hepatomegaly	ORPHA:369
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Atrial septal defect, Micropenis, Tachycardia, Hypertension	OMIM:613870
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial...	OMIM:256550
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur...	OMIM:171400
Obesity Due To Sim1 Deficiency	Hypotension, Obesity, Postural hypotension with compensatory tachycardia	ORPHA:369873
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement	OMIM:617006
Anti-Glomerular Basement Membrane Disease	Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy	ORPHA:375
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Sneddon Syndrome	Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Lipodystrophy, Familial Partial, Type 6	Hypertension, Abdominal obesity	OMIM:615980
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:616730
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertension	OMIM:608600
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Myoglobinuria...	OMIM:620300
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Failure to elevate ammonia on ischemic exercise	OMIM:232600
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoca...	ORPHA:182050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension, Myoglobinuria	OMIM:145600
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Nephrotic syndrome, Postural ...	ORPHA:85443
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly	OMIM:620010
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Cor pulmonale, Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Small for gestational age	OMIM:215250
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges...	ORPHA:29072
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertensi...	ORPHA:251004
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Lipodystrophy, Familial Partial, Type 4	Hypertension	OMIM:613877
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ventricular septal defect, Hematuria, Overriding aorta, Pul...	OMIM:617021
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity	ORPHA:88643
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypertension, Polyuria	OMIM:613677
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi...	OMIM:208000
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Plin1-Related Familial Partial Lipodystrophy	Hypertension	ORPHA:280356
Obesity And Hypopigmentation	Red hair	OMIM:620195
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Nephritis, Congestive heart failure, Abnormal heart morp...	ORPHA:91139
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight	OMIM:614651
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy...	OMIM:619487
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal tubular acidos...	OMIM:613404
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertension	OMIM:615238
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Sickle Cell Disease	Renal insufficiency, Splenomegaly, Cardiomegaly, Hematuria, Hepatomegaly, Hypertension	OMIM:603903
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb...	ORPHA:136
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo...	ORPHA:368
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Tetanus	Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev...	ORPHA:3299
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Stiff Skin Syndrome	Hypertension, Nephrolithiasis	ORPHA:2833
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H...	ORPHA:231625
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic ...	OMIM:269920
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Increased body weight, Proteinuria, Renal Fanconi syndrome...	ORPHA:263455
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Riboflavin Transporter Deficiency	Cachexia, Hypertension	ORPHA:97229
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Splenomegaly, ...	OMIM:263200
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei...	OMIM:616026
Morgagni-Stewart-Morel Syndrome	Obesity, Hypertension	ORPHA:77296
Porphyria, Acute Intermittent	Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Tac...	OMIM:176000
Adrenocortical Carcinoma	Increased urinary cortisol level, Palpitations, Increased body weight, Abnormality of urine homeo...	ORPHA:1501
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ...	ORPHA:1329
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Hypertension	OMIM:615830
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo...	ORPHA:567548
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Failure to thrive, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	ORPHA:436271
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Hepatic Veno-Occlusive Disease	Increased body weight, Hepatomegaly, Renal insufficiency	ORPHA:890
Wagro Syndrome	Proteinuria, Obesity, Hypertension, Nephroblastoma	OMIM:612469
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension, Increased urinary potassium	ORPHA:231580
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:100024
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Cardiomyopathy	ORPHA:119
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria	OMIM:231530
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Hematuria, Proteinuri...	ORPHA:91138
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarbo...	OMIM:212140
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ...	ORPHA:261222
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses...	OMIM:120330
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Small for gestational age	OMIM:613320
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Cirrhosis, Familial	Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension	OMIM:215600
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu...	ORPHA:567546
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th...	ORPHA:1830
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Cystinosis	Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Portal hypertension, Renal tu...	ORPHA:213
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency	OMIM:245900
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Syncope, Weight loss, Orthostatic hypotension, Tac...	ORPHA:71273
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension, Truncal obesity	OMIM:610489
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Aminoaciduria	OMIM:603585
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Hepatosplenomegaly, Failure to thrive, Membranoproliferative glomerulonephritis	OMIM:619858
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Splenomegaly, Pulmonary arterial hyperten...	OMIM:230800
Legionnaires Disease	Hypotension, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Arrhythmia, Myocarditis, ...	ORPHA:549
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Mercury Poisoning	Acute kidney injury, Tachycardia, Hypotension, Hypertension	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	OMIM:220110
Bardet-Biedl Syndrome 8	Hypospadias, Obesity, Situs inversus totalis, Renal dysplasia	OMIM:615985
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia, Obesity	OMIM:600151
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, ...	OMIM:614702
Galactosemia I	Aminoaciduria, Galactosuria, Failure to thrive, Hepatomegaly, Increased level of galactitol in ur...	OMIM:230400
Hellp Syndrome	Hypotension, Acute kidney injury, Increased body weight, Proteinuria, Internal hemorrhage, Cerebr...	ORPHA:244242
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Nephrotic syndrome, Hypertro...	ORPHA:324
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Hypotension, Acute kidney injury, Failure to thrive, Cystathioninuri...	OMIM:277400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Red-brown urine, Cardiomyopathy, Arrhythmia, Myoglobinuria, Hepatomegaly	ORPHA:228305
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telan...	ORPHA:247691
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Failure to thrive in infancy, Stage 3 chronic kidney di...	OMIM:617595
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Pulmonary arteria...	OMIM:613845
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertension	ORPHA:363400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E...	OMIM:201475
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria...	OMIM:248250
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Juvenile Paget Disease	Hypertension	ORPHA:2801
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Hematuria, Protein...	OMIM:192315
Ectopic Aldosterone-Producing Tumor	Epistaxis, Hypertension, Renal cortical adenoma	ORPHA:231632
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Truncal obesity	OMIM:219080
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Hepatomegaly, Tach...	ORPHA:276556
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Nephrolithiasis, Premature ...	OMIM:620504
Alopecia Universalis	Hypertension	ORPHA:701
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Truncal obesity	OMIM:610475
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Obesity, Partial atrioventricular canal defect, Renal i...	OMIM:615996
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Decreased body weight	OMIM:618347
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ...	ORPHA:555874
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Hypertension, Myocardial infarction	OMIM:208060
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Tall stature, Large for gestational age	OMIM:617757
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ...	ORPHA:402075
Porphyria Variegata	Chronic kidney disease, Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilin...	ORPHA:79473
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glome...	ORPHA:36412
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Arrhythmia, Myoglobinuria, S...	OMIM:609015
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension, Bicuspid aortic valve, O...	ORPHA:401923
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Hypertension, Renal ...	OMIM:612780
Pituitary Adenoma 4, Acth-Secreting	Obesity, Hypertension, Nephrolithiasis, Abdominal obesity	OMIM:219090
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Transient ischemic attack, Cerebral ischemia, Renal insuffici...	OMIM:242900
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal cardiovascular system physiology, Proteinuria, Hepatomegaly, Hypertension	ORPHA:79086
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Decreased body weight, Hematuria, Glomerulonephritis, Tubulointerstitial ...	ORPHA:340
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ectopic ki...	ORPHA:3027
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Cerebral ischemia, Subarachnoid h...	ORPHA:494424
Alagille Syndrome	Failure to thrive, Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia...	ORPHA:52
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypertension	ORPHA:69663
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Budd-Chiari syndrome, Dysuria, Large vessel vasculitis, Unilateral renal hyp...	ORPHA:49041
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Obesity, Angina pectoris, Ov...	ORPHA:90041
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Hepatomegaly, Tach...	ORPHA:276575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Failure to thrive, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Arrhyth...	OMIM:614052
Nephrotic Syndrome, Type 1	Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Pediatric-Onset Graves Disease	Sinus tachycardia, Failure to thrive, Congestive heart failure, Palpitations, Splenomegaly, Hepat...	ORPHA:525731
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss, Pulmonary venous hypertension	ORPHA:90060
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hypertension, Failure to thrive, Hemolytic-uremic syndrome	ORPHA:2169
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Xfe Progeroid Syndrome	Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Hypertension	OMIM:610965
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly, Cachexia, Arrhythmia...	ORPHA:42
Beta-Ketothiolase Deficiency	Hypotension, Ketonuria, Weight loss, Hepatomegaly, Hypertension	ORPHA:134
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Syncope, Hepatomegaly, Tach...	ORPHA:276580
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Abnormal renal physiology	OMIM:266500
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Tall stature, Large for gestational age, Abnormal pulmonary valve morphology, Overgrowth, Pulmoni...	ORPHA:137634
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Failure to ...	ORPHA:411634
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena...	OMIM:232240
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Hypernatriuria, Low-molecular-wei...	ORPHA:47159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Arrhyt...	ORPHA:228308
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur...	OMIM:620609
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Nephrocalcinosis, Mitral valve prolapse,...	ORPHA:758
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal left ventricle morphology, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	OMIM:300845
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal...	ORPHA:93126
Acute Intermittent Porphyria	Urinary retention, Dysuria, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, E...	ORPHA:79276
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Palpitations, Syncope, Hepatomegaly, Tachycardia, Small for gestationa...	ORPHA:324575
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Combined Oxidative Phosphorylation Deficiency 15	Obesity, Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-...	OMIM:614947
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Tachycardia	ORPHA:276608
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Nephrolithiasis, Increased body weight, Renal cell carcinoma, A...	ORPHA:189427
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Arrhythmia, Myoglobinuria	ORPHA:57
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Transient ischemic attack, Proteinuria, Microscopic hematuria, Myocard...	OMIM:274150
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Secundum atrial septal defect, Hypertension, Absence of renal corticomedullary ...	OMIM:619758
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardio...	ORPHA:308552
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Proteinuria, Glomerular sclerosi...	OMIM:607426
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hypertension	ORPHA:79083
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st...	ORPHA:90068
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Glomerulonephri...	ORPHA:99931
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular...	OMIM:261740
Overlap Myositis	Abnormal heart morphology, Pulmonary arterial hypertension, Raynaud phenomenon, Abnormality of th...	ORPHA:206572
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Arrhythmia, Hepatomegaly	OMIM:255120
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t...	ORPHA:220393
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobulinuria, Hy...	OMIM:227810
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein...	ORPHA:93552
Noonan Syndrome 8	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ...	OMIM:615355
Galloway-Mowat Syndrome 3	Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glom...	OMIM:617729
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem...	ORPHA:31826
Majeed Syndrome	Failure to thrive, Splenomegaly, Proteinuria, Cachexia, Weight loss, Glomerulopathy, Hepatomegaly...	ORPHA:77297
Primary Progressive Freezing Gait	Urinary incontinence, Hypertension	ORPHA:75567
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Mulibrey Nanism	Congestive heart failure, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, M...	OMIM:253250
Pheochromocytoma/Paraganglioma Syndrome 4	Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level...	OMIM:115310
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hypertrophic cardiomyopathy, Heart murmur, Obesity, Left ventricular hypertrophy	OMIM:615418
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Tall stature, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Sub...	ORPHA:91387
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Heart murmur, Multiple bladder diverticula, Atrial septal defect	ORPHA:2728
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Infant Botulism	Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Glycosuria, Congestive heart failure	OMIM:617253
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome	OMIM:235400
Lipodystrophy, Familial Partial, Type 3	Hypertension	OMIM:604367
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitatio...	ORPHA:505248
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Congestive heart failure, Hypertrophic cardiomyopa...	OMIM:617303
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, A...	ORPHA:99845
Serotonin Syndrome	Acute kidney injury, Tachycardia, Hypotension, Hypertension	ORPHA:43116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,...	OMIM:235200
Monosomy 18P	Hypertension	ORPHA:1598
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology	OMIM:223900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Hypertension, ...	OMIM:243910
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617575
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Hepatomegaly, ...	OMIM:614376
Joubert Syndrome 14	Renal cyst, Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Acute kidney injury, Right ventricular failure, Nail...	ORPHA:90291
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Proteinuria, Arrhythmi...	ORPHA:94093
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i...	ORPHA:900
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Bardet-Biedl Syndrome 1	Obesity, Left ventricular hypertrophy, Micropenis, Truncal obesity, Abdominal obesity, Abnormalit...	OMIM:209900
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Arrhythmia, Myoglobinuria, Renal...	ORPHA:157
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Supraventricular tachycardia, Hig...	ORPHA:423
Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension, Hypoperistalsis, Atrial septal defect	OMIM:613834
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect	OMIM:616901
Spondyloenchondrodysplasia	Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension	ORPHA:1855
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Hurler Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Angina...	ORPHA:93473
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, T...	ORPHA:33001
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Obesity, Patent foramen ovale, Ventricular septal...	ORPHA:26793
Gitelman Syndrome	Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Renal potassium was...	ORPHA:358
Werner Syndrome	Congestive heart failure, Slender build, Telangiectasia of the skin, Renal neoplasm, Hypertension...	ORPHA:902
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome...	ORPHA:447
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Failure to thrive, Mild proteinuria	OMIM:301108
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Papillary renal cell ca...	ORPHA:363618
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Lead Poisoning	Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nephritis, Hypertension, Sm...	ORPHA:330015
Donnai-Barrow Syndrome	Proteinuria, Ventricular septal defect	ORPHA:2143
Cockayne Syndrome Type 1	Failure to thrive, Renal insufficiency, Proteinuria, Hepatomegaly, Hypertension	ORPHA:90321
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy...	ORPHA:892
Familial Dysautonomia	Renal insufficiency, Glomerulopathy, Orthostatic hypotension, Abnormality of the kidney, Tachycar...	ORPHA:1764
Ddost-Cdg	Nephrotic range proteinuria, Failure to thrive	ORPHA:300536
Double Outlet Left Ventricle	Failure to thrive, Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, ...	ORPHA:3427
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Obesity, Subvalvular aortic stenosis, Arrhythmia	ORPHA:3191
Agel Amyloidosis	Cardiomyopathy, Stage 5 chronic kidney disease, Orthostatic hypotension due to autonomic dysfunct...	ORPHA:85448
Scorpion Envenomation	Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Congestive heart...	ORPHA:466677
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, My...	ORPHA:71212
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Abnormal heart morphology, Renal ...	ORPHA:99885
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Car...	OMIM:617713
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension	ORPHA:79126
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Renal salt wasting, Intracranial hemo...	ORPHA:90795
Postinfectious Vasculitis	Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Hematuria, Proteinu...	ORPHA:48435
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hydroneph...	OMIM:617913
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atria...	OMIM:614008
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Imerslund-Gräsbeck Syndrome	Proteinuria, Tachycardia, Weight loss, Failure to thrive	ORPHA:35858
Adult-Onset Still Disease	Splenomegaly, Proteinuria, Hepatomegaly, Weight loss, Myocarditis, Pericarditis	ORPHA:829
Congenital Toxoplasmosis	Failure to thrive in infancy, Hepatomegaly, Cardiomegaly	ORPHA:858
Alstrom Syndrome	Nephritis, Dilated cardiomyopathy, Congestive heart failure, Obesity, Renal insufficiency, Trunca...	OMIM:203800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardi...	OMIM:616878
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria...	ORPHA:1018
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular block, Abnorma...	ORPHA:589821
Blue Diaper Syndrome	Increased body weight, Nephrocalcinosis, Blue urine	ORPHA:94086
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Cardiomyopathy, Splenomegaly, Renal tubular acidosis, Increased body weight, M...	ORPHA:264580
Sandhoff Disease	Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar...	OMIM:268800
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Aminoaciduria, Elevated urinary homogentisic a...	ORPHA:56
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Hematuria, Proteinuria...	ORPHA:77261
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Congestive heart failure	OMIM:619259
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Hepatomegaly, Intracranial he...	ORPHA:394
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr...	ORPHA:18
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Mitral valve prolapse	ORPHA:449291
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Failure to thrive, Cardiomyopathy, Proteinuria, Renal cyst, Hepatomegaly, N...	OMIM:212065
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypotension, Hypertension, Urinary bladder sphincter dysfunction	ORPHA:93256
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Marfanoid-Progeroid-Lipodystrophy Syndrome	Tall stature, Hypertension, Mitral valve prolapse	OMIM:616914
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, ...	ORPHA:391428
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Melas	Nephropathy, Focal segmental glomerulosclerosis, Dilated cardiomyopathy, Proximal tubulopathy, Fa...	ORPHA:550
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Weight loss, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria	ORPHA:536
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hematuria, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle bra...	ORPHA:99827
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction	ORPHA:90038
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Arteritis, Urinary bladder inflammation, Urethritis,...	ORPHA:449395
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hydronephrosis, Micropenis,...	OMIM:616897
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Failure to thrive, Glycosuria, Failure to thrive in inf...	OMIM:219800
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Elevated urinary norepinephrine level, Palpitations, Hypertension associated...	ORPHA:653
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Failure to thrive, Hypertension, Micropenis, Hypo...	ORPHA:90793
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt...	ORPHA:465508
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Ischemic stroke, Telangiect...	OMIM:208050
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Cantu Syndrome	Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti...	OMIM:239850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Pulmonary venous ...	ORPHA:79259
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block...	ORPHA:268
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Pericardial effusion, Splenomegaly, Weight...	OMIM:615846
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, He...	OMIM:301068
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Large for gestational age, Ventricular septal defect, Overgrowth, Smal...	ORPHA:254534
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias	OMIM:194072
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Xq21 Microdeletion Syndrome	Obesity, Renal artery stenosis, Hypertension	ORPHA:1435
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ...	ORPHA:544482
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hepatospleno...	ORPHA:217085
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Von Hippel-Lindau Syndrome	Multiple renal cysts, Hypertension, Renal cell carcinoma	OMIM:193300
Poliomyelitis	Hypovolemic shock, Hypotension, Hypertension	ORPHA:2912
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Raynau...	OMIM:615688
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Cardiomyopathy	ORPHA:206549
Cockayne Syndrome B	Failure to thrive, Renal insufficiency, Splenomegaly, Proteinuria, Severe failure to thrive, Arrh...	OMIM:133540
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Nelson Syndrome	Increased urinary cortisol level, Intracranial hemorrhage, Hypertension	ORPHA:199244
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hepatospleno...	ORPHA:217093
Papa Syndrome	Proteinuria	ORPHA:69126
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Smith-Magenis Syndrome	Increased body weight, Abnormal renal morphology, Abnormality of the urinary system, Abnormal hea...	OMIM:182290
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity...	ORPHA:70591
Martin-Probst Syndrome	Renal insufficiency, Telangiectasia, Proteinuria, Chordee, Micropenis	OMIM:300519
Cushing Disease	Increased urinary cortisol level, Capillary fragility, Increased body weight, Truncal obesity, Ab...	ORPHA:96253
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypertension	ORPHA:786
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Microscopic h...	ORPHA:86818
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Splenomegaly, Proteinuria, Arrhythmia, Nephrotic syndr...	ORPHA:342
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Small for gestational age, Failure to thrive, Mild proteinuria	OMIM:619147
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Micropenis, Atrial septal defect	OMIM:619471
Alexander Disease	Hypertension, Hypotension, Sudden cardiac death, Failure to thrive	ORPHA:58
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Cardiomegaly, Cardiom...	OMIM:105210
Livedoid Vasculopathy	Telangiectasia of the skin, Ischemic stroke, Hypertension	ORPHA:542643
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypospadias, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic v...	OMIM:611962
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Cardiomegaly, Hydronephrosis, Arrhy...	OMIM:608836
Myhre Syndrome	Abnormal penis morphology, Hypertension, Abnormal cardiac septum morphology, Hypospadias, Epispadias	ORPHA:2588
Insulin-Resistance Syndrome Type B	Nephritis, Glycosuria, Abnormality of body weight, Decreased body weight, Increased body weight, ...	ORPHA:2298
Glycogen Storage Disease Ii	Urinary incontinence, Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subar...	OMIM:232300
Insulinoma	Increased body weight, Palpitations	ORPHA:97279
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Recurrent urinary tract infections, H...	ORPHA:731
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:100300
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hypertensive crisis, Hydronephrosis	ORPHA:1358
Cockayne Syndrome A	Failure to thrive, Renal insufficiency, Splenomegaly, Proteinuria, Arrhythmia, Micropenis, Hepato...	OMIM:216400
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia...	ORPHA:411629
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Splenomegaly, Increased body weight, Myoglobinuria, Hepatomegaly	ORPHA:79240
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria	OMIM:251900
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Relapsing Polychondritis	Large vessel vasculitis, Renal insufficiency, Abnormal aortic valve morphology, Hematuria, Protei...	ORPHA:728
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Pituitary Apoplexy	Hypotension, Hypertension	ORPHA:95613
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy	ORPHA:761
Ohdo Syndrome	Proteinuria	OMIM:249620
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Failure to thrive	ORPHA:349
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pulmonary insuff...	OMIM:208500
Prader-Willi Syndrome	Hypertension, Failure to thrive, Abdominal obesity	ORPHA:739
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,...	OMIM:616580
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Mody	Nephropathy, Glycosuria, Obesity, Large for gestational age, Renal cyst, Abnormality of the kidne...	ORPHA:552
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal insufficiency, Stage 5 chronic kidney disease,...	ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Micropenis, Horseshoe kidney	OMIM:300860
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Failure to thrive, Hepatosplenomegaly, Stage 5 chronic kid...	OMIM:266920
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria, Weight loss, Failure to thrive	OMIM:619377
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hy...	OMIM:614921
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Marshall-Smith Syndrome	Failure to thrive, Tall stature, Decreased body weight, Ventricular septal defect, Premature vent...	OMIM:602535
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Pearson Syndrome	Glycosuria, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Cardiac conduction ab...	ORPHA:699
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy, Ventricular septal defect	OMIM:222448
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Orofaciodigital Syndrome I	Abnormal heart morphology, Polycystic kidney dysplasia, Hypertension, Proteinuria	OMIM:311200
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Abnormal heart morphology, ...	ORPHA:470
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Supraventr...	OMIM:181270
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Hypertension	OMIM:123790
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypertension	OMIM:202010
Generalized Pustular Psoriasis	Obesity, Overweight, Renal insufficiency, Congestive heart failure	ORPHA:247353
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Congenital Analbuminemia	Obesity, Small for gestational age, Low pulse pressure	ORPHA:86816
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Hypertension, Small for gestational age	OMIM:234100
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Mucopolysaccharidosis Type 2	Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Kawasaki Disease	Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de...	ORPHA:2331
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Low urinary cyclic AMP response to PTH administration, Obesity, Hypertension	ORPHA:79443
Apert Syndrome	Hypertension	ORPHA:87
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Ketonuria, Failure to thrive, Hypertrophic cardiomyopathy, Mitral atresia, Mitral re...	OMIM:220111
Myhre Syndrome	Aortic valve stenosis, Obesity, Ventricular septal defect, Atrial septal defect, Pericardial effu...	OMIM:139210
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome	OMIM:301110
Cockayne Syndrome	Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Splenomeg...	ORPHA:191
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Hepatomegaly	ORPHA:905
Williams-Beuren Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At...	OMIM:194050
Homozygous Familial Hypercholesterolemia	Renal artery stenosis, Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina ...	ORPHA:391665
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hypertension	OMIM:151660
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Weight loss, Supravent...	ORPHA:91347
Acute Transverse Myelitis	Urinary retention, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orthostatic hy...	ORPHA:139417
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic valve calcification,...	ORPHA:740
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infanc...	ORPHA:51608
Cranioectodermal Dysplasia 2	Renal insufficiency, Splenomegaly, Patent foramen ovale, Renal cyst, Left ventricular hypertrophy...	OMIM:613610
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency	ORPHA:556
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Tall stature, Eunuchoid habitus, Cardiomegaly, Disproportionate tall stature, Mucosal telangiecta...	ORPHA:2463
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Ventricular septal defect, Hydronephrosis, Hepatomegaly, Albumi...	OMIM:214100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Hemoglobinuria, Splenomegaly	OMIM:194380
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Tetralogy of Fallot, Abnormal pu...	ORPHA:2162
Bardet-Biedl Syndrome	Chronic kidney disease, Cardiomyopathy, Abnormal heart morphology, Horseshoe kidney, Obesity, Ves...	ORPHA:110
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Acromegaly	Long penis, Hypertrophic cardiomyopathy, Tall stature, Dysuria, Wide penis, Mitral regurgitation,...	ORPHA:963
Smith-Lemli-Opitz Syndrome	Hypospadias, Renal hypoplasia, Duplicated collecting system, Unilateral renal agenesis, Failure t...	OMIM:270400
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension	ORPHA:2750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves...	ORPHA:95699
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis...	OMIM:251300
Dysbetalipoproteinemia	Hepatomegaly, Angina pectoris, Obesity, Renal steatosis	ORPHA:412
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Yunis-Varon Syndrome	Hypospadias, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defec...	ORPHA:3472
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Neurofibromatosis, Type I	Overgrowth, Renal artery stenosis, Hypertension	OMIM:162200
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Sotos Syndrome	Muscular ventricular septal defect, Tall stature, Ventricular septal defect, Increased body weigh...	OMIM:117550
Blau Syndrome	Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Clear cell renal cell carci...	ORPHA:90340
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias	OMIM:620306
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Tricuspid regurgitation, Mitral regurgitation, Patent foramen...	OMIM:619127
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemi...	ORPHA:365
Somatomammotropinoma	Hypertrophic cardiomyopathy, Tall stature, Dysuria, Mitral regurgitation, Hypertension	ORPHA:314769
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Urinary retention, Obesity, Palpitations, Shortened PR inte...	ORPHA:79102
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Wilson Disease	Aminoaciduria, Glycosuria, Splenomegaly, Hyperphosphaturia, Renal tubular dysfunction, Nephrolith...	OMIM:277900
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Ventricu...	OMIM:122470
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Renal hypoplasia, Failure to thrive, Tetralogy ...	ORPHA:567
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Failure to thrive in infancy, Horseshoe kidney, Obesity, Renal hypoplasia...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Failure to thrive in infancy, Horseshoe kidney, Obesity, Renal hypoplasia...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Failure to thrive in infancy, Horseshoe kidney, Obesity, Renal hypoplasia...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Failure to thrive in infancy, Horseshoe kidney, Obesity, Renal hypoplasia...	ORPHA:881
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Decreased glomerular filtration rate, Vi...	ORPHA:91500
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Pulmonary arterial hypertension, Orthostatic hypotension, Polyuria, Hypertensi...	OMIM:606721
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Failure to thrive, Glycosuria, Congestive hear...	ORPHA:79474
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, M...	OMIM:252500
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Aymé-Gripp Syndrome	Pericardial effusion, Proteinuria, Pericarditis	ORPHA:1272
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Atrial septal defect, Ureteropelvic junction obstruction	OMIM:300896
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Splenomegaly	OMIM:300908
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Lymphatic Filariasis	Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph...	ORPHA:2035
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Nephrolithiasis, Weight loss, Hematemesis, Hypercalciuria, Melena, Proport...	ORPHA:652
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Heparan sulfate excretion in ...	ORPHA:581
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Failure to thrive, Renal insufficiency, Neph...	ORPHA:534
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Gaucher Disease	Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Spl...	ORPHA:355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Failure to thrive, Tetralogy of Fallot, Muscular ventricular septal defect, Pat...	OMIM:210710
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa	ORPHA:79280
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Capillary fragility, Increased body weight, Weight loss, Trunca...	ORPHA:99889
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Fucosidosis	Failure to thrive, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria	OMIM:230000
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Tall stature, Obesity, Large for gestati...	ORPHA:116
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Keutel Syndrome	Hypertension, Pulmonic stenosis, Ventricular septal defect	OMIM:245150
Joubert Syndrome 39	Hypoplastic left heart, Overweight, Polycystic kidney dysplasia	OMIM:619562
Congenital Tracheomalacia	Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car...	ORPHA:95430
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Obesity	OMIM:619269
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly	OMIM:608013
Carney Complex	Congestive heart failure, Tall stature, Increased body weight, Cardiac myxoma, Abdominal obesity,...	ORPHA:1359
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Glycogen Storage Disease Xii	Hepatomegaly, Hemoglobinuria, Splenomegaly	OMIM:611881
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Bohring-Opitz Syndrome	Urinary retention, Nephroblastoma, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septu...	ORPHA:97297
Magel2-Related Prader-Willi-Like Syndrome	Failure to thrive, Increased body weight, Atrial septal defect, Abdominal obesity, Micropenis	ORPHA:398069
Neurofibromatosis Type 1	Tall stature, Hypertension, Abnormality of the upper urinary tract	ORPHA:636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas...	OMIM:309000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat...	OMIM:300967
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Decreased body weight, Cardiomegaly, Vitreous hemo...	OMIM:620371
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Abnormal heart morphology, Renal artery stenosis, Pulmonary arterial...	ORPHA:97685
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula...	OMIM:300855
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Failure to thrive, Congestive heart failure	ORPHA:14
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Alström Syndrome	Chronic kidney disease, Hepatosplenomegaly, Glomerulonephritis, Urinary incontinence, Hepatomegal...	ORPHA:64
Liver Disease, Severe Congenital	Aminoaciduria, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic kidneys, Dil...	OMIM:619991
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Corneal neovascularizati...	OMIM:308205
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Vesicovaginal fistula, Horseshoe kidney, Hypertension, Chordee, Micropenis, Hypospadias, Small fo...	OMIM:201750
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Failure to thrive, Tetralogy of Fallot, Splenomegaly, Ventricular septal de...	OMIM:619525
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Obesity	OMIM:614231
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vas...	OMIM:620376
Vascular Ehlers-Danlos Syndrome	Hypospadias, Abnormal heart valve morphology, Transient ischemic attack, Cystocele, Mitral valve ...	ORPHA:286
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Micropenis	ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly	OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly	OMIM:256040
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Decreased body weigh...	OMIM:182250
Pmm2-Cdg	Failure to thrive, Hypertrophic cardiomyopathy, Proteinuria, Angina pectoris, Abnormal renal tubu...	ORPHA:79318
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep...	ORPHA:95455
Preeclampsia/Eclampsia 5		OMIM:614595

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Corin

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Corin.

No publications found that use IMPC mice or data for Corin.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Corin^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Corin^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Corin^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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