Gene Summary

Name:
ankyrin repeat and SOCS box-containing 4
Synonyms:
8430401O13Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal epididymis morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal coat/ hair morphology Asb4em1(IMPC)Ccpcz HOM Early adult 1.22×10-07
abnormal spleen morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Hind Leg and Hip

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Asb4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Asb4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Renal Failure, Progressive, With Hypertension
Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Premature ovarian insufficien... OMIM:230400
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, ... ORPHA:567544
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephr... ORPHA:730
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia OMIM:602079
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormal hair morphology, Ambiguous genitalia, male, Micropenis, Perineal hypospad... OMIM:264600
Amyloidosis, Familial Visceral
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria OMIM:105200
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Glomerulopathy, Proteinuria,... ORPHA:225
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Renal insuffi... ORPHA:347
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Senior-Loken Syndrome
Hypertension, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian insufficiency, ... ORPHA:3156
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Acute kidney i... ORPHA:275555
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... ORPHA:329918
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Azoospermia, Myocardial infarction, Congestive heart fai... OMIM:615703
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Coproporphyria, Hereditary
Increased urinary porphobilinogen, Hypertension, Tachycardia, Elevated urinary delta-aminolevulin... OMIM:121300
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndrome, Renal interstitial amyloid depo... ORPHA:85443
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Hypogonadism, Abnormal testis morphology, Pili torti, Aplasia/... ORPHA:202
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Liddle Syndrome
Hypertension, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia ORPHA:526
Cednik Syndrome
Hypogonadism, Proteinuria, Congestive heart failure, Nephrotic syndrome ORPHA:66631
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure, Nephrocalcinosis OMIM:614473
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Rowley-Rosenberg Syndrome
Hypertension, Aminoaciduria, Pulmonary arterial hypertension OMIM:268500
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Primary a... OMIM:136680
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Pulmonary arterial... ORPHA:90291
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoacidu... OMIM:618913
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Renal Hypodysplasia/Aplasia 1
Hypertension, Renal agenesis, Renal dysplasia, Primary amenorrhea, Proteinuria OMIM:191830
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Impotence, Raynaud phenomenon OMIM:615750
Coronary Artery Disease, Autosomal Dominant 2
Myocardial infarction, Hypertension, Sudden cardiac death OMIM:610947
Glucocorticoid Resistance, Generalized
Hypertension, Irregular menstruation, Infertility OMIM:615962
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Myh9-Related Disease
Menorrhagia, Nephritis, Spontaneous, recurrent epistaxis, Myocardial infarction, Nephropathy, Pro... ORPHA:182050
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Elevated urinary norepinephrine, Congest... OMIM:171420
Thrombotic Thrombocytopenic Purpura
Hematuria, Myocardial infarction, Acute kidney injury, Proteinuria, Renal insufficiency, Arrhythmia ORPHA:54057
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Branchial cyst, Abnormal nephron morphology, H... ORPHA:2260
Xfe Progeroid Syndrome
Hypertension, Proteinuria, Renal insufficiency OMIM:610965
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypertension OMIM:201910
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea ORPHA:280356
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy ORPHA:3222
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary epinephrine, Palpitations, Hematuria, Elevated urinary nore... ORPHA:94080
Fechtner syndrome
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612926
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Potocki-Shaffer Syndrome
Hypertension, Micropenis, Nephroblastoma ORPHA:52022
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Renal Nutcracker Syndrome
Syncope, Infertility, Dysmenorrhea, Orthostatic hypotension, Hematuria, Tachycardia, Dyspareunia,... ORPHA:71273
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Oligospermia, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Paragangliomas 6
Hypertension OMIM:618464
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:616730
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Hem... OMIM:104200
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Aa Amyloidosis
Nephrotic syndrome, Hypotension, Acute kidney injury, Nephropathy, Chronic kidney disease, Protei... ORPHA:85445
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, St... OMIM:602088
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Fabry Disease
Hypertension, Lipiduria, Urinary mulberry cells, Myocardial infarction, Transient ischemic attack... OMIM:301500
Anti-Glomerular Basement Membrane Disease
Hematuria, Vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Elevated urinary epinephrine, Palpitations, Hematuria, Glomerular sclerosis,... ORPHA:276621
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... ORPHA:330001
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria OMIM:214100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... OMIM:618061
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... OMIM:540000
Heme Oxygenase 1 Deficiency
Hypertension, Hematuria, Nephritis, Epistaxis, Diffuse alveolar hemorrhage, Proteinuria OMIM:614034
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypertension, Internal hemorrhage ORPHA:69077
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Elevated urinary norepinephrine, Congest... OMIM:171300
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation OMIM:616733
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Glutaric Aciduria Iii
Hypertension, Glutaric aciduria OMIM:231690
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral regurgitation OMIM:173900
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypogonad... OMIM:617575
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kidn... OMIM:613095
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... ORPHA:36382
Congenital Hypothyroidism
Hypertension, Abnormality of reproductive system physiology, Umbilical hernia, Nephrolithiasis, H... ORPHA:442
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Simple Cryoglobulinemia
Hypertension, Pericarditis, Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Raynaud ph... ORPHA:91139
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:618348
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... ORPHA:99885
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephritis, Stage 5 ch... OMIM:301050
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Transien... OMIM:242900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Azoospermia, Hypergonadotropic hypogon... ORPHA:280679
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Palpitations,... OMIM:171400
Nephroblastoma
Hypertension, Hematuria, Nephroblastoma ORPHA:654
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... ORPHA:136
Bardet-Biedl Syndrome
Hypertension, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dyspl... ORPHA:110
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Acute kidney injury, Proteinuria OMIM:618886
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Elevated urinary epinephrine, Palpitations, Renal cell carcinoma, Hematuria,... ORPHA:29072
Neuroblastoma, Susceptibility To, 1
Hypertension, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Elevated u... OMIM:256700
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... ORPHA:49041
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pulmonary ar... ORPHA:1830
Tetanus
Hypertension, Elevated urinary epinephrine, Tachycardia, Bradycardia, Elevated urinary norepineph... ORPHA:3299
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Denys-Drash Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:194080
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Hypertensive crisis, Pulmonary arterial hypertension, ... ORPHA:3287
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypercalciuria ORPHA:251274
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Riboflavin Transporter Deficiency
Hypogonadism, Hypertension ORPHA:97229
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney ORPHA:369
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Hematuria, ... ORPHA:183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Glomerular sclerosis, Cardiomyopathy, Raynaud phenomenon, Gastroint... ORPHA:247691
Renal Agenesis
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... ORPHA:411709
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Lead Poisoning
Oligospermia, Hypertension, Abnormal sperm morphology, Renal tubular dysfunction, Tubulointerstit... ORPHA:330015
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pulmonary arterial hypertension, Unilateral renal agenesis OMIM:608406
Porphyria, Acute Intermittent
Hypertension, Urinary retention, Dysuria, Tachycardia, Urinary incontinence, Elevated urinary del... OMIM:176000
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hypertension, Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney dis... OMIM:619487
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney ORPHA:767
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypertension, Membranoproliferative glomerulonephritis, Proteinuria, Enlar... ORPHA:251004
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Ohdo Syndrome
Proteinuria OMIM:249620
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Increased urinary cortisol level OMIM:615954
Porphyria
Hypertension, Abnormal urinary color ORPHA:738
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Stiff Skin Syndrome
Hypertension, Nephrolithiasis ORPHA:2833
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Micropenis, Tachycardia OMIM:613870
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Abnormality of reproductive system physiology, Ab... ORPHA:1501
Donnai-Barrow Syndrome
Proteinuria, Umbilical hernia ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Secondary amenorrhea, Dysmenorrhea, Oligomenorrhea, Pr... ORPHA:79083
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Pituitary Adenoma 1, Multiple Types
Hypertension, Irregular menstruation, Cardiomyopathy OMIM:102200
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Dyspareunia, Ol... ORPHA:220393
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Hypertension, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Arrhythmia, ... OMIM:614052
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Tachycardia, Dark urine, Acute kidne... ORPHA:368
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Nephrotic syndrome, Glomerular sclerosis, Hypergonadotropic hypogona... OMIM:607426
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Increased urinary potassium, Palpitations... ORPHA:231625
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome OMIM:618347
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Tubulointerstitial nephritis, Prolonged QT interval, Ventricul... ORPHA:90068
Lipodystrophy, Familial Partial, Type 3
Hypertension, Oligomenorrhea, Primary amenorrhea OMIM:604367
Neuraminidase Deficiency
Cardiomyopathy, Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary ... OMIM:256550
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Liddle Syndrome 3
Hypertension OMIM:618126
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Coach Syndrome 2
Hyperechogenic kidneys, Hypertension OMIM:619111
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1349
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Hypertension, Renal insufficiency, Nephrocalcinosis ORPHA:320
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613355
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Hypogonadism OMIM:614231
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... ORPHA:325124
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Nephritis, Congestive heart f... OMIM:203800
Sickle Cell Anemia
Hypertension, Hematuria, Renal insufficiency, Priapism OMIM:603903
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypercalciuria, Polyuria OMIM:613677
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Punctate vasculitis skin l... OMIM:192315
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Porphyria Variegata
Hypertension, Porphyrinuria, Tachycardia, Increased urinary porphobilinogen, Chronic kidney disea... ORPHA:79473
Cystinosis
Portal hypertension, Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal in... ORPHA:213
Galloway-Mowat Syndrome 3
Hypertension, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse m... OMIM:617729
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Increased urinary cortisol level, Renal cell carcinoma, Nephrolithiasis, Abnormal l... ORPHA:189427
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Joubert Syndrome 14
Hypertension, Renal cyst OMIM:614424
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Pulmonary arterial hypertension, Proteinuria, Hyperechogenic kidneys, Ren... OMIM:613845
Martin-Probst Syndrome
Telangiectasia, Chordee, Micropenis, Proteinuria, Renal insufficiency, Umbilical hernia OMIM:300519
Acute Intermittent Porphyria
Hypertension, Urinary retention, Dysuria, Porphyrinuria, Tachycardia, Dark urine, Increased urina... ORPHA:79276
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... ORPHA:261222
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:91138
Ethylene Glycol Poisoning
Shock, Hypertension, Renal tubular dysfunction, Decreased urine output, Prolonged QT interval, At... ORPHA:31826
Caudal Regression Sequence
Hypertension, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral ref... ORPHA:3027
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Nephrolithiasi... ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Palpitations, Hypertension, Epistaxis, Increased urinary potassium ORPHA:231580
Coach Syndrome 1
Hypertension, Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic... OMIM:216360
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypertension, Decreased fertility, Micropenis, Male hypogonadism, Male infertility, ... ORPHA:90793
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hematuria, Decreased glomeru... OMIM:232240
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232220
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Long penis, Renal salt wasting, Irregular menstruation, In... ORPHA:90795
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... OMIM:220110
Senior-Boichis Syndrome
Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... ORPHA:84081
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... ORPHA:436271
Primary Lipodystrophy
Hypertension, Cardiomyopathy, Menometrorrhagia, Congestive heart failure, Angina pectoris ORPHA:90970
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Mercury Poisoning
Hypertension, Acute kidney injury, Tachycardia, Hypotension ORPHA:330021
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... OMIM:613159
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hypertension OMIM:103900
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Hypertension, Hemoglobinuria, Budd-Chiari syndrome, Glycosuria, Myocardia... ORPHA:447
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Legionnaires Disease
Myocarditis, Pericarditis, Hematuria, Arrhythmia, Proteinuria, Renal insufficiency, Hypotension ORPHA:549
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Buschke-Ollendorff Syndrome
Hypertension, Renal insufficiency ORPHA:1306
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Hypertension, Increased urinary cortisol level, Infertility, Oligomenorrhea ORPHA:786
Alagille Syndrome
Hypertension, Abnormality of the ureter, Nephrotic syndrome, Telangiectasia of the skin, Renal hy... ORPHA:52
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... OMIM:614376
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Cardiomyopathy ORPHA:119
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Increased urinary cortisol level, Nephrolithiasis, Abnormal libido, Irregular menst... ORPHA:189439
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Arrhythmia ORPHA:57
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Hemolytic-uremic syndrome, Myocardial infarction, Microscopic hematuri... OMIM:274150
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Priapism, Cardiac... ORPHA:466677
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Oligomenorrhea, Nephrolithiasis OMIM:219090
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Nephrotic syndrome, Mitral regurgitation, Atrioventric... ORPHA:324
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Spondyloenchondrodysplasia
Hypertension, Hematuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Proteinuria ORPHA:1855
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Neuroleptic Malignant Syndrome
Hypertension, Myoglobinuria, Hypertensive crisis, Tachycardia, Bradycardia, Acute kidney injury, ... ORPHA:94093
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Granulomatosis With Polyangiitis
Hypertension, Hydronephrosis, Pericarditis, Prostatitis, Hematuria, Epistaxis, Cerebral ischemia,... ORPHA:900
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Werner Syndrome
Hypertension, Secondary amenorrhea, Telangiectasia of the skin, Spontaneous abortion, Myocardial ... ORPHA:902
Tsh-Secreting Pituitary Adenoma
Hypertension, Irregular menstruation, Infertility, Ventricular arrhythmia, Palpitations, Abnormal... ORPHA:91347
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Glomerular sclerosis, Tachycardia OMIM:223900
Acquired Generalized Lipodystrophy
Hypertension, Abnormal cardiovascular system physiology, Proteinuria, Cardiomyopathy ORPHA:79086
Von Hippel-Lindau Syndrome
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Papillary cystadenoma of the epididymis... OMIM:193300
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Raynaud phenomenon, ... ORPHA:93552
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension OMIM:613623
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Tachycardia, Glycosuria ORPHA:263455
Arterial Tortuosity Syndrome
Hypertension, Aortic regurgitation, Telangiectases of the cheeks, Ischemic stroke, Aortic valve s... OMIM:208050
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... OMIM:277900
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, Nephrotic... OMIM:617303
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Urinary bladder sphincter dysfunction, Pollakisuria, Impotence, Hypotension ORPHA:93256
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Nephrolithiasis OMIM:615474
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Abnormality... ORPHA:556
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, A... ORPHA:99845
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Hypocomplementemic Urticarial Vasculitis
Hematuria, Small vessel vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:36412
Serotonin Syndrome
Hypertension, Acute kidney injury, Tachycardia, Hypotension ORPHA:43116
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria, Arrhythmia, Cardiomyopathy ORPHA:228305
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Cardiomyopathy, Premature ovarian insuffici... OMIM:212065
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... ORPHA:437572
Alkaptonuria
Hypertension, Prostatitis, Nephrolithiasis, Myocardial infarction, Aminoaciduria ORPHA:56
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... ORPHA:33001
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Heart murmur ORPHA:2728
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Nephrocalcinosis, Restrictive cardiomyopathy, Telangiectasia of th... ORPHA:758
Myopathy With Lactic Acidosis, Hereditary
Palpitations, Myoglobinuria OMIM:255125
Postinfectious Vasculitis
Hypertension, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Cardiomyopathy, Cerebral vas... ORPHA:48435
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Pulmonary venous hypertension ORPHA:90060
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Polycythemia Vera
Hypertension, Budd-Chiari syndrome, Epistaxis, Intermittent claudication, Gastrointestinal hemorr... ORPHA:729
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hypertension, Acute kidney injury, Hemolytic-uremic syndrome OMIM:235400
Cockayne Syndrome Type 1
Hypertension, Proteinuria, Renal insufficiency, Male hypogonadism ORPHA:90321
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Monosomy 18P
Hypertension ORPHA:1598
Juvenile Paget Disease
Hypertension ORPHA:2801
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Focal segmental glomerulosclerosi... ORPHA:550
Beta-Ketothiolase Deficiency
Hypertension, Hypotension, Ketonuria ORPHA:134
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... ORPHA:157
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Gitelman Syndrome
Prominent U wave, Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Syncope, Tubulointe... ORPHA:358
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Renal tubular acidosis, Cardiomyopathy, Irregular me... ORPHA:370
Pediatric-Onset Graves Disease
Hypertension, Atrial fibrillation, Palpitations, Congestive heart failure, Sinus tachycardia ORPHA:525731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Menorrhagia, Nephrocalcinosis, Tubulointerstitial fibrosis, Epistaxis, Stage 5 chro... ORPHA:79259
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Elevate... OMIM:178600
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency ORPHA:1307
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Heavy proteinuria, Nephrotic syndrome, Mitral regurgitation, Pulmona... ORPHA:505248
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Renal cell carcinoma, Elevated urinary catecholamines, C... ORPHA:892
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Dicarboxyli... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Reduced sperm motility, Renal cyst, Nephrolithiasis, Glycosuria, S... OMIM:137920
Donnai-Barrow Syndrome
Low-molecular-weight proteinuria, Umbilical hernia, Non-acidotic proximal tubulopathy OMIM:222448
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia, Glomerulopathy, Renal insufficiency, Abnormal... ORPHA:1764
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, N... OMIM:277400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced ejection fraction, Exercise-induced myoglobinuria, Dicarboxy... OMIM:201475
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Pituitary Apoplexy
Hypertension, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism, Hypotension ORPHA:95613
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Hellp Syndrome
Cerebral hemorrhage, Hemoglobinuria, Acute kidney injury, Proteinuria, Hypotension, Internal hemo... ORPHA:244242
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Orofaciodigital Syndrome I
Hypertension, Polycystic kidney dysplasia, Proteinuria, Myelomeningocele OMIM:311200
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myoglobinuria, Arrhythmia, Congestive heart failure OMIM:609015
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Abnormal left ventricular function, Exercise-induced myoglobinuria OMIM:607155
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis, Renal cortical adenoma ORPHA:231632
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Spina bifida, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Myocardial infarction, Hypovol... ORPHA:90041
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Renal tubular acidosis, Cardiomyopathy, Irregular me... ORPHA:264580
Paragangliomas 4
Palpitations, Renal cell carcinoma, Elevated urinary catecholamines, Tachycardia, Hypertension as... OMIM:115310
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Overlap Myositis
Hypertension, Pulmonary arterial hypertension, Abnormality of the kidney, Raynaud phenomenon ORPHA:206572
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Familial Mediterranean Fever
Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Myocardial infarction, Vasculitis, Nephropath... ORPHA:342
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Aortic valve sten... OMIM:230800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Prolonge... OMIM:616878
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Hemoglobinuria, Anuria, Myocardial infarction, Acute kidney injury ORPHA:90038
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Stage 5 chronic kidney dise... ORPHA:85448
Cockayne Syndrome A
Hypertension, Hypogonadism, Micropenis, Irregular menstruation, Proteinuria, Renal insufficiency,... OMIM:216400
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Bardet-Biedl Syndrome 1
Hypogonadism, Hypertension, Micropenis, Abnormality of the kidney OMIM:209900
Extracranial Carotid Artery Aneurysm
Hypertension, Cerebral ischemia, Vasculitis, Arteritis, Subarachnoid hemorrhage ORPHA:494424
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Acute Transverse Myelitis
Hypertension, Urinary bladder sphincter dysfunction, Urinary retention, Orthostatic hypotension, ... ORPHA:139417
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria OMIM:210550
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Renal tubular acidosis, Irregular menstruation ORPHA:79240
Immunoglobulin A Vasculitis
Hematuria, Gastrointestinal hemorrhage, Vasculitis, Glomerulopathy, Orchitis, Proteinuria, Renal ... ORPHA:761
Hunter-Macdonald Syndrome
Hypospadias, Hypertension, Mitral regurgitation, Aortic regurgitation, Umbilical hernia OMIM:611962
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... ORPHA:95455
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Myoglobinuria, Ventricular tachycardia, Supraventricular tachy... ORPHA:423
Floating-Harbor Syndrome
Hypospadias, Hirsutism, Congenital posterior urethral valve, Low posterior hairline, Long eyelash... OMIM:136140
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Hurler Syndrome
Hypertension, Mucopolysacchariduria, Cardiomyopathy, Angina pectoris ORPHA:93473
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Decreased urine output, Anuria, Hypertensive crisis, Acute kidney inju... ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Palpitations, Hypertensive ... ORPHA:653
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Liddle Syndrome 2
Hypertension OMIM:618114
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Cushing Disease
Hypertension, Increased urinary cortisol level, Secondary amenorrhea, Oligomenorrhea, Capillary f... ORPHA:96253
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Hypertension, Renal agenesis, Pyelonephritis, Renal insufficiency OMIM:181270
Seckel Syndrome 10
Hypertension, Congestive heart failure, Glycosuria OMIM:617253
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Scalp-Ear-Nipple Syndrome
Hypertension, Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinar... ORPHA:2036
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Prolonged QT interval, Dicarb... ORPHA:71212
Popov-Chang syndrome
Hypertension, Pulmonic stenosis OMIM:618428
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Oligomenorrhea, Low urinary cyclic AMP response to PTH admin... ORPHA:79443
Galloway-Mowat Syndrome
Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:2065
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Cystinosis, Nephropathic
Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Stage 5 chronic k... OMIM:219800
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Myhre Syndrome
Hypospadias, Hypertension, Abnormal penis morphology, Hypogonadism, Epispadias ORPHA:2588
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Marshall-Smith Syndrome
Hypertension, Pulmonary arterial hypertension, Umbilical hernia OMIM:602535
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Umbilical hernia, Cardiomyopathy, Heparan sulfate excretion in urine, Dermatan sulf... ORPHA:217085
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Aortic regurgitation, Tricuspid regurgitation, Interm... ORPHA:2299
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Umbilical hernia, Cardiomyopathy, Heparan sulfate excretion in urine, Dermatan sulf... ORPHA:217093
Acromegaly
Hypertrophic cardiomyopathy, Hypertension, Dysmenorrhea, Long penis, Mitral regurgitation, Hypogo... ORPHA:963
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Imerslund-Gräsbeck Syndrome
Proteinuria, Tachycardia ORPHA:35858
Stiff-Person Syndrome
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