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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 (2 diseases)
Human diseases predicted to be associated with Corin (835 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Preeclampsia		Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	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	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Myocardial infarction	OMIM:608320
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Trimethylaminuria	Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate...	OMIM:121300
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Liddle Syndrome	Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Narcolepsy Type 1	Syncope, Obesity	ORPHA:2073
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Renal hypoplasia	OMIM:618681
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Obesity, Myocardial infarction	OMIM:615703
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri...	ORPHA:976
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re...	OMIM:603278
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Glutaric Aciduria Iii	Hypertension, Glutaric aciduria, Failure to thrive	OMIM:231690
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ...	ORPHA:93101
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight	OMIM:615954
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor...	ORPHA:85447
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, Nephropathy	ORPHA:1192
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney...	OMIM:173900
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer...	OMIM:615862
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Hypertension, Abnormal renal corticomedullary differentiation, Left ve...	OMIM:616733
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Hypospadias, Renal salt wasting	OMIM:201910
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma, Weight loss	ORPHA:654
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert...	OMIM:612925
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612924
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612926
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Achalasia, Ischemic stroke	OMIM:615750
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur...	ORPHA:94080
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hyperte...	ORPHA:767
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury	OMIM:618886
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Abdominal Obesity-Metabolic Syndrome 3	Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Coronary artery stenosis	OMIM:615812
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s...	ORPHA:320
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Hyperaldosteronism, Familial, Type I	Hypertension, Abnormality of the urinary system	OMIM:103900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Hepatomegaly	ORPHA:79084
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension, Decreased urinary potassium	OMIM:611489
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Bardet-Biedl Syndrome 11	Abnormality of the kidney, Obesity	OMIM:615988
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Erythrocytosis, Familial, 1	Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Renal hypoplas...	ORPHA:97362
Rhabdoid Tumor	Renal neoplasm, Weight loss, Hematuria, Hypertension, Internal hemorrhage	ORPHA:69077
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Obesity, Myocardial infarction	OMIM:618620
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi...	ORPHA:347
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury	ORPHA:54057
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive	OMIM:616069
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma	ORPHA:52022
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr...	OMIM:614034
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ...	OMIM:614096
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A...	OMIM:620135
Apparent Mineralocorticoid Excess	Hypertension, Failure to thrive, Small for gestational age	OMIM:218030
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Cednik Syndrome	Congestive heart failure, Nephrotic syndrome, Proteinuria	ORPHA:66631
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Liddle Syndrome 1	Hypertension, Renal insufficiency	OMIM:177200
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Familial Cervical Artery Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ...	ORPHA:36382
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven...	ORPHA:251274
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age...	ORPHA:411709
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:369
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Secundum ...	ORPHA:2260
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	OMIM:171400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis	OMIM:613870
Sneddon Syndrome	Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:375
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Lipodystrophy, Familial Partial, Type 6	Hypertension, Abdominal obesity	OMIM:615980
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hepatomegaly	OMIM:608600
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Congestive heart fai...	ORPHA:85450
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Hypotension	OMIM:145600
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Abnorm...	ORPHA:85443
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Proteinuria	OMIM:620010
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Hypertension, Macroscopic hematur...	ORPHA:251004
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Cor pulmonale, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Small for gestational age, Hematuria, Hypertension, ...	OMIM:617021
Lipodystrophy, Familial Partial, Type 4	Hypertension	OMIM:613877
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Hyperaldosteronism, Familial, Type Iii	Hypertension, Polyuria, Hypercalciuria	OMIM:613677
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Plin1-Related Familial Partial Lipodystrophy	Hypertension	ORPHA:280356
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Hypertension, Nephrotic syndrome	ORPHA:110
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta...	ORPHA:183
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria,...	OMIM:619487
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Obesity And Hypopigmentation	Red hair	OMIM:620195
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, A...	OMIM:613404
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism	OMIM:300700
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension	OMIM:614651
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hepatomegaly	OMIM:615238
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Obesity, Hypotension	ORPHA:369873
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ...	ORPHA:368
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension	OMIM:603903
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno...	ORPHA:231625
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Riboflavin Transporter Deficiency	Hypertension, Cachexia	ORPHA:97229
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Increased body weight, Renal F...	ORPHA:263455
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Morgagni-Stewart-Morel Syndrome	Hypertension, Obesity	ORPHA:77296
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Failure t...	OMIM:269920
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoa...	OMIM:616026
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Palpitations,...	ORPHA:1501
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor...	OMIM:613159
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Increased body weight	OMIM:615830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Stiff Skin Syndrome	Hypertension, Nephrolithiasis	ORPHA:2833
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Increased body weight	ORPHA:890
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis, Increased urinary potassium	ORPHA:231580
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitr...	OMIM:212140
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Myoglobinuria	ORPHA:119
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria	OMIM:231530
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Sple...	ORPHA:91138
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour...	ORPHA:261222
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension, Truncal obesity	OMIM:610489
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Transient ischemic attack, Proteinuria, Small for gestational age, Minimal cha...	ORPHA:1830
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp...	OMIM:230800
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Galactosemia I	Hepatomegaly, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Albuminuria, F...	OMIM:230400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly	OMIM:619858
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,...	ORPHA:324
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas...	OMIM:617595
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome	ORPHA:834
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob...	OMIM:201475
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis, Total anomalous ...	ORPHA:494424
Mercury Poisoning	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:330021
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne...	ORPHA:244242
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy...	OMIM:614702
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Obesity	OMIM:615985
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Endocarditis, Hematuri...	ORPHA:549
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio...	OMIM:613845
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Myoglobinuria, Red-brown urine, Cardiomyopathy, Arrhythmia	ORPHA:228305
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia, Obesity	OMIM:600151
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T...	ORPHA:247691
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hepatomegaly	ORPHA:363400
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Juvenile Paget Disease	Hypertension	ORPHA:2801
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull...	OMIM:216360
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Obesity, Elevated ...	ORPHA:90041
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased body weight	OMIM:618347
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276556
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Truncal obesity	OMIM:219080
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Tall stature, Large for gestational age	OMIM:617757
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Abdominal obesity, Nephrolithiasis, Obesity	OMIM:219090
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Truncal obesity	OMIM:610475
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Porphyria Variegata	Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u...	ORPHA:79473
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis, Renal cortical adenoma	ORPHA:231632
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhy...	OMIM:609015
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp...	ORPHA:401923
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypocalciuria, Renal sodium wasting, Renal ...	OMIM:612780
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Schimke Immunoosseous Dysplasia	Renal insufficiency, Transient ischemic attack, Proteinuria, Small for gestational age, Stage 5 c...	OMIM:242900
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Acquired Generalized Lipodystrophy	Hepatomegaly, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension	ORPHA:79086
Alstrom Syndrome	Hepatomegaly, Renal insufficiency, Congestive heart failure, Dilated cardiomyopathy, Hypertension...	OMIM:203800
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab...	ORPHA:52
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl...	OMIM:232200
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Large vessel vasculitis, Unilateral rena...	ORPHA:49041
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypertension, Obesity	ORPHA:69663
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Bartter Syndrome Type 4	Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary potassium, Im...	ORPHA:89938
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Small for gestational age, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hy...	OMIM:614052
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat...	ORPHA:525731
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Hypertension, Failure to thrive, Glomerulopathy	ORPHA:2169
Juvenile Nephropathic Cystinosis	Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5...	ORPHA:411634
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega...	ORPHA:42
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276580
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Large for gestational age, Overgrowth, Pulmonic stenosis, Ta...	ORPHA:137634
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia	OMIM:255120
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Hypertension, Failure to thrive	OMIM:610965
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Acute Intermittent Porphyria	Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Hyper...	ORPHA:79276
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology	OMIM:266500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo...	OMIM:232220
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal...	OMIM:232240
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Weight loss, Hypertension, Hypotension	ORPHA:134
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Obesity, Ventri...	OMIM:614947
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Increased body weight, Nephrolithiasis, Hypertension, Renal cel...	ORPHA:189427
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita...	ORPHA:324575
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Arrhythmia, Acute kidney injury	ORPHA:57
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Microsc...	OMIM:274150
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight	ORPHA:276608
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy	ORPHA:79083
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Overlap Myositis	Abnormality of the kidney, Raynaud phenomenon, Abnormal heart morphology, Hypertension, Pulmonary...	ORPHA:206572
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di...	ORPHA:90068
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ...	OMIM:619758
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Diffuse Alveolar Hemorrhage	Hematuria, Pulmonary venous hypertension, Proteinuria, Weight loss	ORPHA:90060
Noonan Syndrome 8	Failure to thrive, Ventricular septal defect, Large for gestational age, Mitral regurgitation, Pu...	OMIM:615355
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar...	ORPHA:220393
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Obesity, Heart murmur	OMIM:615418
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Pericardial effusion, Hematuria...	ORPHA:93552
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Multiple bladder diverticula, Proteinuria, Heart murmur	ORPHA:2728
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic...	OMIM:617729
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Weight loss...	ORPHA:77297
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo...	OMIM:194080
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure, Glycosuria	OMIM:617253
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury	OMIM:235400
Lipodystrophy, Familial Partial, Type 3	Hypertension	OMIM:604367
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Nephrotic syndrome, Focal segm...	OMIM:617303
Serotonin Syndrome	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:43116
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Monosomy 18P	Hypertension	ORPHA:1598
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Systemic Sclerosis	Pericarditis, Renal insufficiency, Proteinuria, Nail bed telangiectasia, Abnormality of the kidne...	ORPHA:90291
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst	OMIM:614424
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren...	OMIM:243910
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ...	ORPHA:94093
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis	OMIM:613834
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ...	OMIM:614376
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epith...	ORPHA:157
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A...	ORPHA:900
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Cardiomyocyte mitochondrial prolif...	ORPHA:423
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Left ventri...	OMIM:209900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
Spondyloenchondrodysplasia	Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypertension	ORPHA:1855
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr...	ORPHA:447
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ar...	ORPHA:33001
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hyp...	ORPHA:93473
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestationa...	ORPHA:26793
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegaly, Abnormal myocardium morphology, He...	ORPHA:77259
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype...	ORPHA:902
Donnai-Barrow Syndrome	Ventricular septal defect, Proteinuria	ORPHA:2143
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Lead Poisoning	Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Hypertension, Tubul...	ORPHA:330015
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Hypertension, Failure to thrive	ORPHA:90321
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Ddost-Cdg	Failure to thrive, Nephrotic range proteinuria	ORPHA:300536
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypertrophic...	ORPHA:71212
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Orthostatic hypotension ...	ORPHA:85448
Familial Dysautonomia	Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormality of the kid...	ORPHA:1764
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11-deoxy...	ORPHA:90795
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery steno...	OMIM:617913
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ...	OMIM:617713
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension	ORPHA:79126
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R...	ORPHA:48435
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Cardiac arrest, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Hypertroph...	OMIM:616878
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai...	ORPHA:466677
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	ORPHA:858
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Obesity, Enuresis, Abnormal cardiac sep...	ORPHA:589821
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Increased body weight, Cardiomyopathy, Renal tubular acidosis, Myoglo...	ORPHA:264580
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Abnormal heart...	ORPHA:99885
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Hypoperistalsis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss...	ORPHA:1018
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Proteinuria, Pericardi...	ORPHA:77261
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Increased body weight	ORPHA:94086
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary...	OMIM:614008
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Mitral valve prolapse	ORPHA:449291
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypertension, Urinary bladder sphincter dysfunction, Hypotension	ORPHA:93256
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Tall stature, Mitral valve prolapse	OMIM:616914
Pseudohypoparathyroidism, Type Ib	Obesity, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly	OMIM:619259
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Cardiomyopathy, Nephro...	OMIM:212065
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric...	ORPHA:99827
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury	ORPHA:90038
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria...	ORPHA:18
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Weight l...	ORPHA:465508
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp...	ORPHA:653
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Hypertension, Micropenis, Failure to thrive, Increased urinary 11-deoxycorticosteron...	ORPHA:90793
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Micropenis, Hype...	OMIM:616897
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Hypertension, Ischemic stroke, Aortic valve stenos...	OMIM:208050
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ...	OMIM:239850
Igg4-Related Kidney Disease	Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina...	ORPHA:449395
Hardikar Syndrome	Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Ventricular septal defect, Recurren...	OMIM:301068
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje...	ORPHA:268
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in...	OMIM:219800
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalc...	ORPHA:79259
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Vasculitis, Nephrocalcinosis, Nep...	ORPHA:342
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure...	ORPHA:2331
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp...	OMIM:609049
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Large for gestational age, Abnormal heart m...	ORPHA:254534
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Weight loss, Hematoche...	OMIM:615846
Smith-Magenis Syndrome	Abnormality of the urinary system, Abnormal renal morphology, Increased body weight, Abnormal hea...	OMIM:182290
Von Hippel-Lindau Syndrome	Hypertension, Renal cell carcinoma, Multiple renal cysts	OMIM:193300
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Infection-Related Hemolytic Uremic Syndrome	Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De...	ORPHA:544482
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Myoglobinuria	ORPHA:206549
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vascu...	OMIM:615688
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Increased urinary cortisol level	ORPHA:199244
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal aortic valve morphology, Microscopic h...	ORPHA:86818
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i...	ORPHA:217085
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Splenomegaly, Micropen...	OMIM:133540
Papa Syndrome	Proteinuria	ORPHA:69126
Cushing Disease	Increased urinary cortisol level, Myocardial infarction, Increased body weight, Hypertension, Cap...	ORPHA:96253
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypertension	ORPHA:786
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i...	ORPHA:217093
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Failure to thrive, Small for gestational age, Mild proteinuria	OMIM:619147
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis	OMIM:300519
Xq21 Microdeletion Syndrome	Hypertension, Renal artery stenosis, Obesity	ORPHA:1435
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac...	OMIM:232300
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi...	OMIM:611962
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Alexander Disease	Hypotension, Hypertension, Failure to thrive, Sudden cardiac death	ORPHA:58
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Livedoid Vasculopathy	Telangiectasia of the skin, Hypertension, Ischemic stroke	ORPHA:542643
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Bardet-Biedl Syndrome 20	Atrial septal defect, Micropenis, Proteinuria, Obesity	OMIM:619471
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi...	OMIM:105210
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Hypertension, Abnormal cardiac septum morphology	ORPHA:2588
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Increased...	ORPHA:2298
Insulinoma	Increased body weight, Palpitations	ORPHA:97279
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Increased body weight, Renal tubular acidosis, Myoglobinuria	ORPHA:79240
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria	OMIM:251900
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ...	ORPHA:728
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper...	OMIM:619573
Ohdo Syndrome	Proteinuria	OMIM:249620
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmi...	OMIM:216400
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne...	OMIM:208500
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Fail...	OMIM:616580
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:761
Prader-Willi Syndrome	Hypertension, Abdominal obesity, Failure to thrive	ORPHA:739
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Cardiac conduction abn...	ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ureteral duplication, Failure to thrive, Stage 5 chronic kidney disease, Renal cyst...	OMIM:266920
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abno...	ORPHA:470
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Ventricular septal defect, Proteinuria	OMIM:222448
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension, Obesity, Low urinary cyclic AMP response to PTH administration	ORPHA:79443
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Increased body weight, Horseshoe kidney	OMIM:300860
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Decreased body weight...	OMIM:602535
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Fucosidosis	Hepatomegaly, Failure to thrive, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h...	OMIM:181270
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension, Long penis	OMIM:202010
Generalized Pustular Psoriasis	Overweight, Congestive heart failure, Renal insufficiency, Obesity	ORPHA:247353
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,...	OMIM:194050
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal tubuloi...	ORPHA:904
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Osteootohepatoenteric Syndrome	Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss	OMIM:619377
Congenital Analbuminemia	Small for gestational age, Obesity, Low pulse pressure	ORPHA:86816
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:311200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Small for gestational age, Aortic ...	OMIM:220111
Hallermann-Streiff Syndrome	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Apert Syndrome	Hypertension	ORPHA:87
Wilson Disease	Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, Rena...	OMIM:277900
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Wilson Disease	Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno...	ORPHA:391665
Myhre Syndrome	Ventricular septal defect, Small for gestational age, Pericardial effusion, Obesity, Hypertension...	OMIM:139210
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Mody	Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria...	ORPHA:552
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Lipodystrophy, Familial Partial, Type 2	Hypertension, Hepatomegaly	OMIM:151660
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Failure to thrive in infan...	ORPHA:51608
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin...	ORPHA:740
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Hypospadias, Aminoaciduria, Albuminuria, Failure to thri...	OMIM:214100
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatomegaly, Hemoglobinuria	OMIM:194380
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret...	ORPHA:139417
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Atrial septal defect, ...	OMIM:613610
Holoprosencephaly	Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology, Proteinuria,...	ORPHA:2162
Neurofibromatosis, Type I	Hypertension, Overgrowth, Renal artery stenosis	OMIM:162200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Cardiomegaly, Disproportionate tall stature, Tall stature, Mucosal telangiecta...	ORPHA:2463
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa...	OMIM:270400
Acromegaly	Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy,...	ORPHA:963
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis	ORPHA:2750
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot...	OMIM:251300
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv...	ORPHA:95699
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca...	ORPHA:3472
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Dysbetalipoproteinemia	Hepatomegaly, Angina pectoris, Obesity, Renal steatosis	ORPHA:412
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce...	OMIM:233450
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Increas...	OMIM:117550
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Nephropathy, Stage 5 chronic kidney ...	ORPHA:90340
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental g...	OMIM:619127
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly	OMIM:620306
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Decreased urinary potassium, Shortened PR interval, Obesity, Weight loss, ...	ORPHA:79102
Somatomammotropinoma	Dysuria, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Tall stature	ORPHA:314769
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Ventricular septal defect, Abnormal pulmonary val...	ORPHA:567
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V...	OMIM:122470
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ...	ORPHA:91500
Atypical Werner Syndrome	Renal neoplasm, Failure to thrive, Telangiectasia of the skin, Congestive heart failure, Aortic v...	ORPHA:79474
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:881
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Proteinuria	ORPHA:1272
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Hypertension, Vesicovaginal fistula, Ureteropelvic junction obstruction	OMIM:300896
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Hemoglobinuria	OMIM:300908
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Small for gestational age, Polyuria, Hypertension, Pulmonary arterial hy...	OMIM:606721
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Nephrolithiasis, Hypercalciuria, Weight loss, Melena, Hyperte...	ORPHA:652
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Failure to thrive	OMIM:230000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasi...	OMIM:210710
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr...	ORPHA:2035
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Tall stature, Nephroblastoma, Cardiomegaly, Large for gestati...	ORPHA:116
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Myocardial infarction, Increased body weight, Weight loss, Hype...	ORPHA:99889
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Atrioventricular bl...	ORPHA:581
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Joubert Syndrome 39	Overweight, Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Neurofibromatosis Type 1	Hypertension, Tall stature, Abnormality of the upper urinary tract	ORPHA:636
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Glycogen Storage Disease Xii	Splenomegaly, Hepatomegaly, Hemoglobinuria	OMIM:611881
Carney Complex	Cardiac myxoma, Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity,...	ORPHA:1359
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight	OMIM:608013
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis, Obesity	OMIM:619269
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Proteinuria	OMIM:616682
Magel2-Related Prader-Willi-Like Syndrome	Increased body weight, Abdominal obesity, Atrial septal defect, Micropenis, Failure to thrive	ORPHA:398069
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Severe failure ...	ORPHA:97297
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Abnormal heart morphology, Hypertension, R...	ORPHA:97685
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr...	ORPHA:84064
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen...	OMIM:308205
Ogden Syndrome	Atrial septal defect, Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, ...	OMIM:300855
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Abetalipoproteinemia	Hepatomegaly, Congestive heart failure, Failure to thrive, Cardiomegaly	ORPHA:14
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Liver Disease, Severe Congenital	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem...	OMIM:619991
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Micropenis, Hepatomegaly, Portal hyp...	ORPHA:64
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypospadias, Small for gestational age, Vesicovaginal fistula, Horseshoe kidney, Hypertension, Ch...	OMIM:201750
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def...	OMIM:619525
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Obesity	OMIM:614231
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi...	ORPHA:286
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive	OMIM:618278
Aicardi-Goutières Syndrome	Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy	ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Arrhythmia, Failure to thrive	OMIM:256040
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Pmm2-Cdg	Pericarditis, Angina pectoris, Proteinuria, Pericardial effusion, Intracranial hemorrhage, Nephro...	ORPHA:79318
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Preeclampsia/Eclampsia 5		OMIM:614595

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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