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Gene: Asb4 MGI:1929751

Gene Summary

Name:

ankyrin repeat and SOCS box-containing 4

Synonyms:

8430401O13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal epididymis morphology	Asb4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Asb4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased airway resistance	Asb4^{em1(IMPC)Ccpcz}	HOM	Early adult	6.02×10^-05
abnormal coat/ hair morphology	Asb4^{em1(IMPC)Ccpcz}	HOM	Early adult	1.94×10^-07
abnormal testis morphology	Asb4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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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.

Human diseases associated with Asb4 (0 diseases)
Human diseases predicted to be associated with Asb4 (642 diseases)

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	Matching phenotypes	Source
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala...	OMIM:230400
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Diethylstilbestrol Syndrome	Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit...	ORPHA:1916
Senior-Loken Syndrome	Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten...	ORPHA:3156
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re...	OMIM:603278
Amyloidosis, Familial Visceral	Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P...	ORPHA:347
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k...	ORPHA:85443
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Recurrent urinary tract infection...	ORPHA:976
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Infe...	OMIM:615703
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin...	OMIM:121300
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Nephropathy	ORPHA:1192
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Liddle Syndrome	Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Cednik Syndrome	Hypogonadism, Nephrotic syndrome, Proteinuria, Congestive heart failure	ORPHA:66631
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Nail bed telangiectasia, Righ...	ORPHA:90291
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Hypertension, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Menorr...	ORPHA:182050
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury	ORPHA:54057
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension	ORPHA:820
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur...	ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert...	OMIM:612925
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Male infertility, Renal insufficiency, Primary testicular failure, P...	ORPHA:85450
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Renal insufficiency, Arrhythmia, Cardiomyopathy	ORPHA:3222
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Infertility, Oligomenorrhea	ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Hypospadias, Renal salt wasting	OMIM:201910
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Hematuria, Syncope,...	ORPHA:71273
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma	ORPHA:52022
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612926
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612924
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Igg4-Related Kidney Disease	Renal insufficiency, Pericarditis, Proteinuria, Urinary bladder inflammation, Prostatitis, Chroni...	ORPHA:449395
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke	OMIM:615750
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:375
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis	OMIM:614034
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Rhabdoid Tumor	Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm	ORPHA:69077
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation	OMIM:616733
Lipodystrophy, Familial Partial, Type 4	Hypertension, Oligomenorrhea	OMIM:613877
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia	OMIM:173900
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension, Decreased urinary potassium	OMIM:611489
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension	OMIM:231690
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypertensi...	ORPHA:110
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:618348
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp...	ORPHA:280679
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Renal tubular dysfunction, Glycos...	ORPHA:99885
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	OMIM:171400
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Pseudo-Torch Syndrome 3	Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage	OMIM:618886
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Familial Cervical Artery Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ...	ORPHA:36382
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syndrome, Focal s...	OMIM:607426
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney	ORPHA:369
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Portal hypertension, Multiple ...	OMIM:216360
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Bilateral cryptorchidism, Stage 5 ch...	OMIM:242900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T...	ORPHA:247691
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Chronic kidney disease, Oligozoosper...	ORPHA:330015
Glucocorticoid Resistance, Generalized	Hypertension, Irregular menstruation, Infertility	OMIM:615962
Riboflavin Transporter Deficiency	Hypertension, Hypogonadism	ORPHA:97229
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Umbilical her...	OMIM:614052
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s...	ORPHA:320
Donnai-Barrow Syndrome	Umbilical hernia, Proteinuria	ORPHA:2143
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Pericarditis, Proteinuria, Recurrent urinary tract infections, Portal hypert...	OMIM:619487
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm...	ORPHA:3027
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ...	ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension	ORPHA:251274
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar...	ORPHA:251004
Pparg-Related Familial Partial Lipodystrophy	Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Primary amenorrhea, Hypertension, O...	ORPHA:79083
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension	ORPHA:767
Stiff Skin Syndrome	Hypertension, Nephrolithiasis	ORPHA:2833
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of reproductive system physiology, Hypertension, Pa...	ORPHA:1501
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Umbilical hernia, Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension	OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Primary amenorrhea	OMIM:202110
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno...	ORPHA:231625
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,...	ORPHA:220393
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Micropenis, Tachycardia	OMIM:613870
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Primary amenorrhea, Thicken...	OMIM:146255
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Hypotension	OMIM:145600
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hyperten...	OMIM:613095
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension, Secondary amenorrhea	OMIM:610489
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Porphyria Variegata	Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Increased urinary porphob...	ORPHA:79473
Liddle Syndrome 1	Hypertension, Renal insufficiency	OMIM:177200
Pituitary Adenoma 1, Multiple Types	Hypertension, Irregular menstruation, Cardiomyopathy	OMIM:102200
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Lipodystrophy, Familial Partial, Type 3	Hypertension, Oligomenorrhea, Primary amenorrhea	OMIM:604367
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypertension, Polyuria	OMIM:613677
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:617021
Alstrom Syndrome	Renal insufficiency, Hypergonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyop...	OMIM:203800
Lipodystrophy, Familial Partial, Type 5	Hypertension, Irregular menstruation	OMIM:615238
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Premature ovarian insufficiency, Proteinuria	OMIM:610965
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil...	ORPHA:90793
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Irregular menstruation, Testicular adrenal rest tumor, Intracrani...	ORPHA:90795
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria, Decreased testicular size	OMIM:612469
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis, Increased urinary potassium	ORPHA:231580
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Telangiectasia, Chordee, Umbilical hernia, Micr...	OMIM:300519
Alagille Syndrome	Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:52
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Joubert Syndrome 14	Encephalocele, Meningocele, Renal cyst, Intracranial hemorrhage, Hypertension	OMIM:614424
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:91138
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium wasting, Renal ...	OMIM:612780
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphyrinuria, Incre...	ORPHA:79276
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru...	OMIM:232200
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Mercury Poisoning	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:330021
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor...	OMIM:613159
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Irregular menstruation, Nephrolithiasis, Hypertension, Renal ce...	ORPHA:189427
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular...	ORPHA:369929
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Hyperaldosteronism, Familial, Type I	Hypertension, Abnormality of the urinary system	OMIM:103900
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Decr...	ORPHA:902
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy	OMIM:231530
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio...	OMIM:613845
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Moderate albuminuria, Hypogonadism	OMIM:614231
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp...	OMIM:300845
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Lipodystrophy, Familial Partial, Type 1	Hypertension	OMIM:608600
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Nephrolithiasis, Oligomenorrhea	OMIM:219090
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Renal insufficiency, Glomerulopathy, Proteinuri...	ORPHA:324
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Myoglobinuria	ORPHA:119
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension, Arrhythmia	ORPHA:549
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr...	ORPHA:447
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Sickle Cell Disease	Hematuria, Hypertension, Renal insufficiency, Priapism	OMIM:603903
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury, Arrhythmia	ORPHA:57
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Heart murmur, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi...	OMIM:232240
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Microsc...	OMIM:274150
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru...	OMIM:232220
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte...	OMIM:208000
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Oligozoospermia, Hypertension, Infertility, Oligomenorrhea	ORPHA:786
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension	ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Hypertension, Glomerulopathy	ORPHA:2169
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia, Hy...	ORPHA:94093
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Lipodystrophy, Familial Partial, Type 6	Hypertension	OMIM:615980
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai...	ORPHA:466677
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Spondyloenchondrodysplasia	Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension	ORPHA:1855
Acquired Generalized Lipodystrophy	Cardiomyopathy, Proteinuria, Hypertension, Abnormal cardiovascular system physiology	ORPHA:79086
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Hematuria, Nephrotic syndrome, ...	ORPHA:93552
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr...	ORPHA:91347
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Nephrolithiasis, Pulmonary arterial hypertension	OMIM:615474
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Impotence, Hypertension, Hypotension, Urinary bladder sphincter dysfunction	ORPHA:93256
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Congestive heart failure, Nephrotic syndrome, Focal segmental glomerulosclerosis, Re...	OMIM:617303
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Myoglobinuria, Red-brown urine, Arrhythmia	ORPHA:228305
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Serotonin Syndrome	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:43116
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Hypertension, Male hypogonadism	ORPHA:90321
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Small vessel vasculitis	ORPHA:36412
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Diffuse Alveolar Hemorrhage	Hematuria, Pulmonary venous hypertension, Proteinuria	ORPHA:90060
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Umbilical hernia, Hypertension, Cryptorchidism	ORPHA:1555
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ar...	ORPHA:33001
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Ohdo Syndrome	Cryptorchidism, Proteinuria	OMIM:249620
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Juvenile Paget Disease	Hypertension	ORPHA:2801
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Beta-Ketothiolase Deficiency	Hypertension, Ketonuria, Hypotension	ORPHA:134
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury	OMIM:235400
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Alkaptonuria	Myocardial infarction, Nephrolithiasis, Hypertension, Aminoaciduria, Prostatitis	ORPHA:56
Monosomy 18P	Hypertension	ORPHA:1598
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Reduced left ventric...	OMIM:201475
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R...	ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria	OMIM:619525
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Epistaxis, Irregular menstruation, Nephrolithiasis, Stage 5 chronic kidney disease, ...	ORPHA:79259
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Hypogonadotropic hypogonadism, Cardiac conduction ab...	ORPHA:550
Gitelman Syndrome	Prolonged QT interval, Proteinuria, Urinary incontinence, Decreased urinary potassium, Raynaud ph...	ORPHA:358
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia...	ORPHA:228308
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal...	OMIM:212065
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Proteinuria	OMIM:222448
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Tachycardia, Orthostatic hypotension, Abnormality of the kid...	ORPHA:1764
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph...	OMIM:617913
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema...	OMIM:193300
Papa Syndrome	Proteinuria	ORPHA:69126
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhythmia	OMIM:609015
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Nep...	OMIM:609049
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis, Renal cortical adenoma	ORPHA:231632
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra...	ORPHA:99827
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Nephrocal...	ORPHA:90041
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Morgagni-Stewart-Morel Syndrome	Hypertension	ORPHA:77296
Seckel Syndrome 10	Hypertension, Congestive heart failure, Glycosuria	OMIM:617253
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Cardiac arrest, Ventricular tachycardia, Hypertrophic cardiomyopathy, Torsade de point...	OMIM:616878
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension	ORPHA:95613
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Umbilical hernia, Aortic valve stenosis, Tel...	OMIM:208050
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Cardiomyopathy, Oligomenorrhea, Myo...	ORPHA:264580
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Opitz Gbbb Syndrome	Hypospadias, Cryptorchidism, Widow's peak, Aspiration, Micropenis	OMIM:300000
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Au-Kline Syndrome	Cryptorchidism, Chronic kidney disease, Lipomyelomeningocele, Dilatation of the renal pelvis, Hyp...	OMIM:616580
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Orthostatic hypotension ...	ORPHA:85448
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Overlap Myositis	Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension, Abnormality of the kidney	ORPHA:206572
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic ...	OMIM:219800
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury	ORPHA:90038
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Vasculitis, Nephrocalcinosis, Nephrot...	ORPHA:342
Nelson Syndrome	Increased urinary cortisol level, Hypertension, Intracranial hemorrhage, Testicular neoplasm	ORPHA:199244
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Myocardial infarction	OMIM:618620
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypospadias, Hypertension, Mitral regurgitation, Umbilical hernia	OMIM:611962
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,...	ORPHA:423
Hurler Syndrome	Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris	ORPHA:93473
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Myoglobinuria	ORPHA:79240
Cushing Disease	Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi...	ORPHA:96253
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Mild proteinuria	OMIM:619685
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret...	ORPHA:139417
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri...	ORPHA:2035
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Cryptorchidism, Irregular menstruation, Hypertension, Hypogonad...	OMIM:216400
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Vasculit...	ORPHA:761
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
Infection-Related Hemolytic Uremic Syndrome	Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De...	ORPHA:544482
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Cryptorchidism, Hypertension, Hypogonadism	ORPHA:2588
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Aspiration, Alopecia, Sparse eyelashes	OMIM:610768
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy...	ORPHA:71212
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Orofaciodigital Syndrome I	Hypertension, Myelomeningocele, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,...	OMIM:266920
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Hypertension, Oligomenorrhea, Low urinary ...	ORPHA:79443
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:77297
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph...	ORPHA:653
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Hypertension, Hypogonadism, Micropenis, Decreased testicular size	OMIM:209900
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Prader-Willi Syndrome	Cryptorchidism, Primary amenorrhea, Hypertension, Hypogonadism, Infertility, Decreased testicular...	ORPHA:739
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Gaucher Disease Type 1	Hematuria, Pulmonary arterial hypertension, Proteinuria	ORPHA:77259
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Heart murmur, Hypertensi...	ORPHA:217085
Hallermann-Streiff Syndrome	Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension	OMIM:234100
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria	ORPHA:35858
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne...	OMIM:208500
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Heart murmur, Hypertensi...	ORPHA:217093
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Decreased...	ORPHA:95699
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Myoglobinuria	ORPHA:206549
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Tay-Sachs Disease	Aspiration	OMIM:272800
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino...	ORPHA:904
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Spinocerebellar Ataxia Type 8	Aspiration, Impotence	ORPHA:98760
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Cryptorchidism, Hypertension, Arrhythmia, Micropenis	OMIM:133540
Amyotrophic Lateral Sclerosis 21	Respiratory insufficiency due to muscle weakness, Aspiration	OMIM:606070
Acromegaly	Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Wide penis, Long penis, Hypertension, Mitra...	ORPHA:963
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Somatomammotropinoma	Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Hypertension, Mitral regurgitation, Impoten...	ORPHA:314769
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Neonatal respiratory distress, Panhypopituitarism, Decreased response to growth hormo...	OMIM:618922
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Papillary ...	ORPHA:363618
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Pulmon...	OMIM:602535
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Proteinuria, Cryptorchidism, Spinal dysraphism, Branchial ano...	ORPHA:2162
Developmental And Epileptic Encephalopathy 38	Aspiration	OMIM:617020
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis	ORPHA:2750
Neurofibromatosis, Type I	Hypertension, Renal artery stenosis, Spina bifida	OMIM:162200
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria	OMIM:619471
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension, Long penis, Decreased testicular size	OMIM:202010
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension	ORPHA:449291
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis...	ORPHA:534
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration	ORPHA:600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Portal hypertension, Urethral stenosis, ...	OMIM:194050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,...	ORPHA:258
Kawasaki Disease	Pericarditis, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Sterile pyuria, Arr...	ORPHA:2331
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Atypical Werner Syndrome	Renal neoplasm, Premature ovarian insufficiency, Telangiectasia of the skin, Congestive heart fai...	ORPHA:79474
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension, Cryptorchidism	OMIM:613834
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Livedoid Vasculopathy	Telangiectasia of the skin, Hypertension, Ischemic stroke	ORPHA:542643
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Esophageal Atresia	Respiratory distress, Abnormal external genitalia, Episodic respiratory distress, Chronic pulmona...	ORPHA:1199
Adnp Syndrome	Respiratory distress, Sparse scalp hair, Cryptorchidism, Aspiration, High anterior hairline, Hirs...	ORPHA:404448
Aicardi-Goutieres Syndrome 7	Hematemesis, Vasculitis, Hematochezia, Nephrotic syndrome, Hypertension, Hypertrophic cardiomyopathy	OMIM:615846
Multiple Endocrine Neoplasia Type 1	Hematemesis, Shortened QT interval, Hypercalciuria, Nephrolithiasis, Melena, Hypertension, Impote...	ORPHA:652
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Premature ovarian insufficiency, High urinary gonadotropin level, Ectopic ...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Premature ovarian insufficiency, High urinary gonadotropin level, Ectopic ...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Premature ovarian insufficiency, High urinary gonadotropin level, Ectopic ...	ORPHA:99228
Monosomy X	Prolonged QT interval, Premature ovarian insufficiency, High urinary gonadotropin level, Ectopic ...	ORPHA:99226
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopath...	OMIM:615688
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Alexander Disease	Hypotension, Hypertension, Sudden cardiac death	ORPHA:58
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Apert Syndrome	Hypertension	ORPHA:87
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Ogden Syndrome	Apnea, Sparse eyebrow, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Fine hair, Hyd...	OMIM:300855
Xq21 Microdeletion Syndrome	Hypertension, Renal artery stenosis	ORPHA:1435
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction	OMIM:615812
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Large vessel vasculi...	ORPHA:728
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno...	ORPHA:391665
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Aymé-Gripp Syndrome	Cryptorchidism, Pericarditis, Proteinuria	ORPHA:1272
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Spina bifida, Cryptorchidism, Meningocele, Renal hypopl...	ORPHA:567
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Pearson Syndrome	Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Lacticaciduria, Renal cyst, Car...	ORPHA:699
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Halperin-Birk Syndrome	Aspiration, Long eyelashes	OMIM:618651
Pontine Tegmental Cap Dysplasia	Aspiration	OMIM:614688
Gaucher Disease Type 3	Hematuria, Pulmonary arterial hypertension, Proteinuria	ORPHA:77261
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration	ORPHA:2148
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen...	OMIM:308205
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal arter...	ORPHA:3472
Mucopolysaccharidosis Type 2	Umbilical hernia, Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:580
Cranioectodermal Dysplasia 2	Hypertension, Renal insufficiency, Renal cyst	OMIM:613610
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Decreased response to growth hormone stimulation test, Synophrys, Aspiration, Micropenis, ...	OMIM:619503
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Generalized hypertrichosis, Glandular hypospadias, Low posterior hai...	OMIM:136140
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob...	ORPHA:91500
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Myocardial infarction, Secondary amenorrhea, Hypertension, Capi...	ORPHA:99889
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Thin eyebrow	ORPHA:2131
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu...	ORPHA:90340
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Adams-Oliver Syndrome 1	Encephalocele, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve ste...	OMIM:100300
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Mitral regurgitation, Tricuspid regurgitation, Proteinuria	OMIM:619127
Rett Syndrome, Congenital Variant	Aspiration	OMIM:613454
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	OMIM:220111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis	OMIM:210710
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemo...	ORPHA:51608
Myhre Syndrome	Hypertension, Aortic valve stenosis, Cryptorchidism	OMIM:139210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Proteinuria, Cerebral hemorrhage	OMIM:616682
Immunodeficiency 87 And Autoimmunity	Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp...	OMIM:619573
Developmental And Epileptic Encephalopathy 100	Aspiration, Synophrys	OMIM:619777
Lipodystrophy, Familial Partial, Type 7	Hypertension, Orthostatic hypotension, Polyuria, Pulmonary arterial hypertension	OMIM:606721
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula	OMIM:300896
Lipodystrophy, Familial Partial, Type 2	Hypertension	OMIM:151660
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo...	ORPHA:97685
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypospadias, Cryptorchidism, Horseshoe kidney, Micropenis, Primary amenorrhea, Hypertension, Chor...	OMIM:201750
Neurofibromatosis Type 1	Hypertension, Abnormality of the upper urinary tract, Cryptorchidism	ORPHA:636
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Bilateral Perisylvian Polymicrogyria	Aspiration, Ectopic posterior pituitary, Apnea	ORPHA:98889
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr...	ORPHA:64
Gaucher Disease	Hematuria, Pulmonary arterial hypertension, Proteinuria	ORPHA:355
Vascular Ehlers-Danlos Syndrome	Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Cystocele, Re...	ORPHA:286
Carney Complex	Sertoli cell neoplasm, Testicular neoplasm, Congestive heart failure, Testicular adrenal rest tum...	ORPHA:1359
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele	ORPHA:2044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidism, Asthma, Hydrocele test...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidism, Asthma, Hydrocele test...	ORPHA:353277
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Pmm2-Cdg	Pericarditis, Angina pectoris, Proteinuria, Hypogonadotropic hypogonadism, Intracranial hemorrhag...	ORPHA:79318

Histopathology

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

There is no histopathology data for Asb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Asb4.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ASB4 modulates central melanocortinergic neurons and calcitonin signaling to control satiety and glucose homeostasis.	Science signaling (May 2022)	Asb4^{tm1c(KOMP)Wtsi} Asb4^{tm1a(KOMP)Wtsi} Asb4^{tm1b(KOMP)Wtsi}	35536884

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Asb4^{em1(IMPC)Ccpcz}	Indel	Mice
Asb4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Asb4 MGI:1929751

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Asb4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data