Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
corin, serine peptidase
Synonyms:
Lrp4

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Corin mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... ORPHA:275555
Preeclampsia/Eclampsia 5
OMIM:614595

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

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