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Gene: Asb4 MGI:1929751

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal coat/ hair morphology Asb4em1(IMPC)Ccpcz HOM Early adult 1.57×10-07
increased airway resistance Asb4em1(IMPC)Ccpcz HOM   Early adult 4.02×10-06
abnormal spleen morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal epididymis morphology Asb4em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Hind Leg and Hip

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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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
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuri... OMIM:161900
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Galactosemia I
Aminoaciduria, Galactosuria, Premature ovarian insufficiency, Increased level of galactitol in ur... OMIM:230400
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian insuf... ORPHA:3156
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension OMIM:105200
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri... ORPHA:347
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Al Amyloidosis
Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with compensatory tachycard... ORPHA:85443
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Oligozoospermia, Infertility, Hypertension, Myocardial inf... OMIM:615703
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv... ORPHA:439232
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension ORPHA:526
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Hypogonadism, Congestive heart failure ORPHA:66631
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement OMIM:617006
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Syncope, Nocturia, Hypertension ORPHA:2073
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria ORPHA:1192
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Frasier Syndrome
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Primary amenorrh... OMIM:136680
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Acute kidney injury, Right ventricular failure, Nail... ORPHA:90291
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology OMIM:123550
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... OMIM:166300
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Hypertension, Renal dysplasia OMIM:191830
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoca... ORPHA:182050
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... OMIM:610205
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t... OMIM:615862
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocardial infarction ORPHA:54057
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension... OMIM:612925
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Branchial cyst, Bilateral renal hypoplasi... ORPHA:2260
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Arteritis, Urinary bladder inflammation, Urethritis,... ORPHA:449395
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hypertension ORPHA:280356
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disi... OMIM:174000
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Renal Nutcracker Syndrome
Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Syncope, Dyspareunia, O... ORPHA:71273
Potocki-Shaffer Syndrome
Micropenis, Hypertension, Nephroblastoma ORPHA:52022
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612926
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... ORPHA:85450
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hypertension, Hemolytic-uremic syndrome OMIM:612924
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Protein... ORPHA:85445
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:276621
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy ORPHA:375
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypertension OMIM:201910
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Hematuria, Proteinuria, Hypertension OMIM:614034
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Stage 5 c... OMIM:617575
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertension OMIM:613877
Rhabdoid Tumor
Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Renal dysplasia, Abnormal renal corticomedullary differentiation OMIM:616733
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Renal insufficiency OMIM:173900
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman... OMIM:256700
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension OMIM:231690
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Decreased urinary potassium OMIM:611489
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:29072
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb... ORPHA:136
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Failure to elevate ammonia on ischemic exercise OMIM:232600
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Azoospermia, Ischemic stroke, Cerebral hemorrhage, Hypertension, Hypergon... ORPHA:280679
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Palpitations, Elevated ur... OMIM:171400
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Hypertension, Cerebral hemorrhage OMIM:618886
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Congestive heart failure, Renal insufficiency... ORPHA:91139
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma ORPHA:654
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Impotence, Budd-Chiari syndrome, Dysuria, Large vessel vasculitis, Unilatera... ORPHA:49041
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Tetanus
Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev... ORPHA:3299
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Proteinuria, Glomerular sclerosi... OMIM:607426
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Lead Poisoning
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased fema... ORPHA:330015
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney ORPHA:369
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Umbilical hernia, Nephrolithiasis, Premature ventricular contraction, Hyperten... OMIM:620504
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypertension OMIM:615962
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telan... ORPHA:247691
Riboflavin Transporter Deficiency
Hypogonadism, Hypertension ORPHA:97229
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypercalciuria, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Stiff Skin Syndrome
Hypertension, Nephrolithiasis ORPHA:2833
Donnai-Barrow Syndrome
Proteinuria, Umbilical hernia ORPHA:2143
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation, Umbilical hernia OMIM:619758
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Aminoaciduria OMIM:603585
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Adrenocortical Carcinoma
Increased urinary cortisol level, Palpitations, Abnormality of urine homeostasis, Hypertension, A... ORPHA:1501
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... ORPHA:368
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Oligomenorrhea, Primary amen... ORPHA:79083
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... ORPHA:220393
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Tac... OMIM:176000
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis ORPHA:767
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Hypertension, Cardiomyopathy OMIM:102200
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension OMIM:615954
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Cerebral ischemia, Renal insuffici... OMIM:242900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hyperten... OMIM:613095
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Myoglobinuria OMIM:145600
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch... OMIM:256550
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Secondary amenorrhea OMIM:610489
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... ORPHA:93126
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Membranoproliferative glomerulonephritis OMIM:619858
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys OMIM:619111
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Myoglobinuria... OMIM:620300
Porphyria Variegata
Chronic kidney disease, Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilin... ORPHA:79473
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal insufficiency ORPHA:320
Liddle Syndrome 1
Hypertension, Renal insufficiency OMIM:177200
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Umbilical hernia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Arrhythm... OMIM:614052
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Hematuria, Protein... OMIM:192315
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Hypertension, Renal insufficiency OMIM:610965
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Hypertension, Primary amenorrhea OMIM:604367
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Hematuria, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Hypertension OMIM:615238
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypertension, Polyuria OMIM:613677
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Cleft Larynx, Posterior
Aspiration OMIM:215800
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Renal insuffic... OMIM:263200
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ectopic ki... ORPHA:3027
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension, Increased urinary potassium ORPHA:231580
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Mercury Poisoning
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:330021
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Joubert Syndrome 14
Encephalocele, Renal cyst, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Occipital meningocele, Renal sodium wasting, He... OMIM:243910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Decrea... ORPHA:90793
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Hypertension, Renal ... OMIM:612780
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Long penis, Renal salt wa... ORPHA:90795
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N... OMIM:617729
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Pulmonary arterial hypertension... ORPHA:369929
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Martin-Probst Syndrome
Umbilical hernia, Renal insufficiency, Telangiectasia, Proteinuria, Chordee, Micropenis OMIM:300519
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Increased urinary cortisol level, Nephrolithiasis, Renal cell carcinoma, ... ORPHA:189427
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Acute Intermittent Porphyria
Urinary retention, Dysuria, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, E... ORPHA:79276
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension OMIM:215600
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hypertension OMIM:103900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria OMIM:231530
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hypertension, Pol... OMIM:613845
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal tubular dysfunct... ORPHA:436271
Legionnaires Disease
Hypotension, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocarditis, Pericarditis ORPHA:549
Sickle Cell Disease
Hematuria, Priapism, Hypertension, Renal insufficiency OMIM:603903
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Moderate albuminuria OMIM:614231
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Werner Syndrome
Secondary amenorrhea, Congestive heart failure, Hypogonadism, Decreased fertility, Telangiectasia... ORPHA:902
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Orthostatic hypotension, Tachycardia, Hypertension, Abnormal renal physiology OMIM:223900
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Impotence, Pulmonary embolism, Glycosuria, Budd-Chia... ORPHA:447
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena... OMIM:232240
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Azoospermia, Cerebral hemorrhage, Hypertension, Hypergonadotropic hypogon... OMIM:300845
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia, Telangiectasia of the sk... ORPHA:52
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Cardiomyopathy ORPHA:119
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Fabry Disease
Nephropathy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundl... ORPHA:324
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Hypertension, Nephrolithiasis OMIM:219090
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Arrhythmia, Myoglobinuria ORPHA:57
Scorpion Envenomation
Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Congestive heart... ORPHA:466677
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Transient ischemic attack, Proteinuria, Microscopic hematuria, Myocard... OMIM:274150
Wagro Syndrome
Proteinuria, Hypertension, Nephroblastoma OMIM:612469
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Oligomenorrhea, Oligozoospermia, Infertility, Hypertension ORPHA:786
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria OMIM:301108
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Hypotension, Acute kidney injury, Methylmalonic aciduria, Cystathion... OMIM:277400
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypertension, Myocardial... OMIM:208000
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypertension, Hemolytic-uremic syndrome ORPHA:2169
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i... ORPHA:900
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Proteinuria, Arrhythmi... ORPHA:94093
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal tubular dysfunct... OMIM:220110
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Acquired Generalized Lipodystrophy
Proteinuria, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy ORPHA:79086
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Spondyloenchondrodysplasia
Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension ORPHA:1855
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Pulmonary venous hypertension ORPHA:90060
Malakoplakia
Urinary bladder inflammation, Abnormality of the menstrual cycle, Urinary hesitancy, Orchitis, He... ORPHA:556
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, A... ORPHA:99845
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Tachycardia, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Small vessel vasculitis ORPHA:36412
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Impotence, Pollakisuria ORPHA:93256
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, Nephrolithiasis OMIM:615474
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Hypotension, Male hypogonadism, Impotence, Congestive heart failure, Abno... ORPHA:91347
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Myoglobinuria, Red-brown urine, Cardiomyopathy ORPHA:228305
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:617303
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Hypertension, Myocardial infarction OMIM:208060
Neuroblastoma
Elevated urinary homovanillic acid, Hypertension, Elevated urinary vanillylmandelic acid, Elevate... ORPHA:635
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Serotonin Syndrome
Acute kidney injury, Tachycardia, Hypotension, Hypertension ORPHA:43116
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Nephrocalcinosis, Angina pectoris, Telan... ORPHA:758
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Cockayne Syndrome Type 1
Proteinuria, Male hypogonadism, Hypertension, Renal insufficiency ORPHA:90321
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Arrhythmia, Myoglobinuria, Renal... ORPHA:157
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Ketonuria ORPHA:134
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, T... ORPHA:33001
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Hematuria, Proteinuria, Raynaud p... ORPHA:48435
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Arrhythmia, Myoglobi... ORPHA:228308
Juvenile Paget Disease
Hypertension ORPHA:2801
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary ve... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Premature ovarian insufficiency, Proteinuria, Renal cyst, N... OMIM:212065
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Hepatic hemangioma, Epididymal cyst, Pancreatic cysts, Neoplasm o... OMIM:193300
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Heart murmur, Multiple bladder diverticula ORPHA:2728
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy, Umbilical hernia OMIM:222448
Familial Dysautonomia
Renal insufficiency, Glomerulopathy, Orthostatic hypotension, Abnormality of the kidney, Tachycar... ORPHA:1764
Gitelman Syndrome
Focal segmental glomerulosclerosis, Urinary incontinence, Enuresis, Prominent U wave, Renal potas... ORPHA:358
Melas
Nephropathy, Focal segmental glomerulosclerosis, Dilated cardiomyopathy, Proximal tubulopathy, Ca... ORPHA:550
Hellp Syndrome
Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob... ORPHA:244242
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Papa Syndrome
Proteinuria ORPHA:69126
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E... OMIM:201475
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria OMIM:607155
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Elevated urinary catecholamine level, Arrhythmia, Multiple renal cy... ORPHA:892
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Hyperte... OMIM:617913
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... ORPHA:505248
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Angina pectoris, Hypertensio... ORPHA:90041
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Myoglobinuria, Congestive heart failure OMIM:609015
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Crimean-Congo Hemorrhagic Fever
Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton... ORPHA:99827
Pheochromocytoma/Paraganglioma Syndrome 4
Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level... OMIM:115310
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Spina bifida, Nephrotic syndrome OMIM:161200
Primary Progressive Freezing Gait
Urinary incontinence, Hypertension ORPHA:75567
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Renal cortical adenoma ORPHA:231632
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardi... OMIM:616878
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia ORPHA:1555
Pituitary Apoplexy
Hypotension, Hypertension, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism ORPHA:95613
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Ischemic stroke, Telangiectases of... OMIM:208050
Alkaptonuria
Aortic valve stenosis, Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Mitral regu... ORPHA:56
Seckel Syndrome 10
Hypertension, Glycosuria, Congestive heart failure OMIM:617253
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Cardiomyopathy, Renal tubular acidosis, Dysmenorrhea, Myoglobinuria, Olig... ORPHA:264580
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Opitz Gbbb Syndrome
Cryptorchidism, Aspiration, Micropenis, Hypospadias, Widow's peak OMIM:300000
Alstrom Syndrome
Irregular menstruation, Nephritis, Dilated cardiomyopathy, Congestive heart failure, Renal insuff... OMIM:203800
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Alopecia Universalis
Hypertension ORPHA:701
Agel Amyloidosis
Cardiomyopathy, Stage 5 chronic kidney disease, Orthostatic hypotension due to autonomic dysfunct... ORPHA:85448
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Low-molecular-weight pro... OMIM:219800
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon, Abnormality of the kidney ORPHA:206572
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Ohdo Syndrome
Proteinuria OMIM:249620
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Orchitis, Hematuria, Proteinuria, G... ORPHA:761
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Acute Transverse Myelitis
Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Orth... ORPHA:139417
Hurler Syndrome
Angina pectoris, Mucopolysacchariduria, Hypertension, Cardiomyopathy ORPHA:93473
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Cushing Disease
Secondary amenorrhea, Increased urinary cortisol level, Capillary fragility, Amenorrhea, Oligomen... ORPHA:96253
Hunter-Macdonald Syndrome
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Hypertension, Hypospadias OMIM:611962
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Myoglobinuria, Oligomenorrhea ORPHA:79240
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur... ORPHA:423
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria ORPHA:536
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Familial Mediterranean Fever
Nephropathy, Vasculitis, Nephrocalcinosis, Orchitis, Proteinuria, Arrhythmia, Nephrotic syndrome,... ORPHA:342
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, H... OMIM:216400
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Li... OMIM:616580
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ... ORPHA:544482
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Orofaciodigital Syndrome I
Myelomeningocele, Polycystic kidney dysplasia, Hypertension, Proteinuria OMIM:311200
Laryngotracheoesophageal Cleft
Aspiration ORPHA:2004
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Palpitations OMIM:255125
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Aspiration, Sparse eyebrow, Sparse eyelashes OMIM:610768
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Umbilical hernia, Stage 5 chronic kidney disease, Reduced ... OMIM:266920
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Majeed Syndrome
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:77297
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Myoglobinuria, Prolon... ORPHA:71212
Lymphatic Filariasis
Urethral obstruction, Orchitis, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the ki... ORPHA:2035
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Myhre Syndrome