Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
Synonyms:
Aogen,  Serpina8,  angiotensin precursor

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Agt mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Elevated circulating creatinine conce... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Renal salt was... OMIM:610600
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Hypertension, Decreased circulating renin ... OMIM:103900
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Renal salt wasting, Increased circulating renin level, Decreased circu... OMIM:203400
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubula... OMIM:616730
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Chondrocalcinosis, P... OMIM:263800
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Uveitis, Reversible renal failure, Glo... OMIM:607665
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, E... ORPHA:730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Glomerulonephritis, ... OMIM:614376
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Pulmonary insufficiency, Elevated circulating creatinine conce... OMIM:602088
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Abnormal glomer... ORPHA:567544
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Palpitations, Abnormal circul... ORPHA:1501
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypogonadism, Obe... OMIM:616629
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Severe short stature, Elevated circulating creatinine conce... OMIM:242530
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Multifocal hyperintensity of cerebral white matter on MRI, Fai... ORPHA:488627
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Hyponatremia, Decreased circulating renin level... OMIM:300539
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Cerebellar hemorrhage, Abnormal globus pallidus morphology, Hepatomegaly, Tubulo... OMIM:251000
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Failure to thriv... OMIM:143880
Glycogen Storage Disease Ia
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, ... OMIM:232200
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Hypertens... OMIM:618913
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Renal tubula... OMIM:618348
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... ORPHA:63
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Renal salt wasting, In... ORPHA:427
Liddle Syndrome 1
Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l... OMIM:177200
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Atherosclerosis,... ORPHA:93598
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Glycogen Storage Disease Ib
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, ... OMIM:232220
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal i... OMIM:618061
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Arrhythmia, Pachygyria, Cystic renal dysplasia... ORPHA:157
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Apparent Mineralocorticoid Excess
Renal insufficiency, Polydipsia, Hypertension, Abnormality of circulating cortisol level, Hypokal... ORPHA:320
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Scleritis, Nephrot... ORPHA:93126
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cerebral calcification, Cardiomegaly, Elevated circulating creatine kinase conce... ORPHA:228308
Alstrom Syndrome
Hyperuricemia, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubulointerstit... OMIM:203800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
2p15-16.1 microdeletion syndrome
Microcephaly, Hydronephrosis DECIPHER:70
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Hyponatremia, Renal salt wasting, Pulmonary arterial hypertension, Chron... OMIM:613845
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
East Syndrome
Inability to walk, Difficulty walking, Lower limb muscle weakness, Enuresis, Renal salt wasting, ... ORPHA:199343
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Acne, Increased circulating androstenedione concentration, Long penis, Premature pubarche, Intrac... ORPHA:90795
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated systolic blood pressure, El... ORPHA:275555
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Renal amyloidosis, Proteinuria, Abnormal car... ORPHA:439232
Leigh Syndrome With Nephrotic Syndrome
Focal T2 hyperintense basal ganglia lesion, Renal tubular acidosis, Tubulointerstitial nephritis,... ORPHA:255249
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypertension, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hy... OMIM:613677
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Hypothyroidism, Nephropathy... ORPHA:85445
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Postnatal growth retardation, Hydronephrosis, Failure to thrive, In... OMIM:617093
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Glycogen Storage Disease Ic
Xanthelasma, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatit... OMIM:232240
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Elevated circulating creatinine concentration, Recurrent u... OMIM:613095
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Skin rash, Hematuria, Endocarditis, Increased inflammatory response, Weight loss, Glo... ORPHA:183
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Central diabetes insipidus, Hydronephrosis OMIM:304900
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tubulointerstitial fibrosis OMIM:263000
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone lev... ORPHA:95409
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Orthostatic hypotension, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Hepatic failure, Portal hypertension, Hepatosplenomegaly,... OMIM:232500
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Polycystic kidney dy... OMIM:615382
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chro... ORPHA:3156
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:241200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wastin... OMIM:612780
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension, Urinary urgency, Urinary incontinence OMIM:156310
Cystinosis
Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Hypothyroidism, Gait distu... ORPHA:213
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Weight loss, Hepatitis, ... ORPHA:139402
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Macdermot-Winter Syndrome
Intrauterine growth retardation, Microcephaly, Hydronephrosis OMIM:247990
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Abnormal T-wave, Delayed pub... ORPHA:358
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Hypertension, Nephroblastoma, Stage 5 chronic ki... OMIM:194080
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:218030
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Lymphedema-Distichiasis Syndrome
Arrhythmia, Recurrent urinary tract infections, Glomerulopathy, Conjunctivitis, Tubulointerstitia... ORPHA:33001
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Hypotension, Postural hypotension with compensatory tachycardia, At... ORPHA:369873
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Lipodystrophy,... OMIM:616000
Central Diabetes Insipidus
Lethargy, Nocturia, Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Cerebral cortical atrophy, Vesicoureteral reflux, Hydronephrosis, S... ORPHA:85285
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary h... ORPHA:171876
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Short stature, Renal insufficiency, Hypogonadism OMIM:618681
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Short stature, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria, Failure to thrive, Short sta... OMIM:125800
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Polydipsia, Epistaxis, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:251274
Image Syndrome
Adrenal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Hypospadias, Hypogonadism ORPHA:85173
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Hepatic fibrosis, Renal corticomedullary cysts... OMIM:613550
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Polydipsia, Epistaxis, Hypertension, Hyperaldosteronism, Abnormal circul... ORPHA:369929
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Calci... OMIM:239200
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Type I diabetes mellitus, Failure to thrive, Diabet... OMIM:560000
Addison Disease
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone lev... ORPHA:85138
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circula... ORPHA:231632
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Enuresis, Aortic valve stenosis, Tubulointerstitial nephritis, Short s... ORPHA:459061
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Increased urinary potassium, Glucocortocoid-insensitive pr... ORPHA:231580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis, Ventricular septal defect ORPHA:251076
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Proteinuria, Hypertension, Membranoproliferative ... ORPHA:251004
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Dysmyelination With Jaundice
Jaundice, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:617729
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Snakebite Envenomation
Cardiogenic shock, Pseudobulbar paralysis, Acute kidney injury, Intracranial hemorrhage, Hypotens... ORPHA:449285
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Rhabdomyolysis, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase con... OMIM:145600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Decreased serum creatinine, Re... ORPHA:54057
Alkaptonuria
Aortic aneurysm, Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Corona... OMIM:203500
Lead Poisoning
Skin rash, Decreased circulating osteocalcin level, Hypertension, Delayed puberty, Tubulointersti... ORPHA:330015
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functiona... ORPHA:223
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Cerebral hemorrhage, Elevated circulating... ORPHA:90068
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Decreased circulating renin level, Hypokalemia, Left ventricular hypertrophy, Pulmo... OMIM:615474
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Renal salt wasting, Hyperaldoste... OMIM:264350
Rhyns Syndrome
Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia ORPHA:140976
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... OMIM:137950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebral atrophy, Aminoaciduria, Cholangitis, Tubulointerstitial nephritis, Failure to thrive, Hy... OMIM:124000
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:168558
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Lethargy, Hypotension, Rhabdomyolysis, Ventricular tachyc... ORPHA:159
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology OMIM:613390
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Short stature, Intrauterine growth retardation, ... ORPHA:195
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Renal tubular atrophy, Hepatic ... OMIM:243910
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Polydipsia, Secretory adrenocortical adenoma, Epistaxis, Hypertension, A... ORPHA:403
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tachycardia, Atriov... OMIM:212138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Parathyroid Carcinoma
Shortened QT interval, Weight loss, Hypercalciuria, Renal hamartoma, Hypercalcemia, Primary hyper... ORPHA:143
Pierson Syndrome
Hypoproteinemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis,... OMIM:609049
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Elevated circulating creatinine concentration, Weight loss, Elevated circulating C-rea... ORPHA:91500
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension... OMIM:123550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Cardiomegaly, Renal insufficiency, Ureteral duplication, Antenatal int... OMIM:608836
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Lethargy, Weight loss ORPHA:30925
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Chondrocalcinosis, Shortened QT interval, Polydipsia, ... ORPHA:99878
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Enlarged kidney, Hypophosphatemic rickets, Glomeru... OMIM:276700
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Nephrotic syndrome, R... OMIM:254900
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Orofaciodigital Syndrome Xv
Hydronephrosis, Agenesis of corpus callosum OMIM:617127
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Thyroid carcinoma, Lipoma, Shortened QT interval, Chondrocalcinosis, Parathyroi... ORPHA:99880
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Short stature, Decreased body weight OMIM:618265
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased hepatic glycogen content, Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged k... ORPHA:79259
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Renal insufficiency, Polydipsia, Obesity OMIM:615986
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Abnormality of the liver, Nephropathy ORPHA:474
Teratoma, Pineal
Polyuria, Cerebral calcification OMIM:273120
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cystic renal dysplasia, Enlarged kidney, Hepatomegaly, Pulmonic stenosis, Aortic valv... OMIM:615415
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertension, Hypertriglyceridemia,... OMIM:615703
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, ... OMIM:617671
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Cerebral calcification, Renal i... OMIM:219800
Myopathy, Congenital, Progressive, With Scoliosis
Dysphagia, Hydronephrosis, Renal atrophy OMIM:618578
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Budd-Chiari syndro... ORPHA:49041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Chronic kidney disease, Short stature, Microcephaly OMIM:617661
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Hepat... OMIM:619111
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Weight loss, Oliguria, M... ORPHA:188
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Focal segmental glomerulosclerosis, Renal tubular atrophy, Decreased glomerular filtration rate, ... OMIM:614748
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Punctate vasculitis skin lesions, Gastrointestinal hemorr... ORPHA:247691
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Hyponatremia, Ataxia, Myo... ORPHA:3452
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Hypoten... ORPHA:91547
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Short stature, Renal insuffic... OMIM:602152
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Elevated hepatic tran... ORPHA:93111
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged kidney, Central hypothyroidism, Increased circulating reni... ORPHA:508
Meier-Gorlin Syndrome 8
Renal hypoplasia, Microcephaly, Decreased body weight, Intrauterine growth retardation OMIM:617564
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Cerebral atrophy, Failure to thrive in infancy, Postnatal growth retardation, Hydrone... OMIM:611209
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Diabetes mellitus, Hydronephrosis, Hydroureter OMIM:598500
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Hardikar Syndrome
Elevated hepatic transaminase, Patent foramen ovale, Hydroureter, Ventricular septal defect, Coar... OMIM:612726
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Focal segmental glomerulosclerosis, Enlarged kidney, Hypertrophic cardiomyop... OMIM:617303
Mental Retardation, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Cholestasis, Hepatic fibrosis, Renal dysplasia, Hepatomegaly, Rena... OMIM:266920
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Renal hypoplasia, Dysphagia, Hydronephrosis, Renal agenesis, Abnormal ... OMIM:618494
Rabson-Mendenhall Syndrome
Macroglossia, Long penis, Hypothyroidism, Increased circulating androgen concentration, Polydipsi... ORPHA:769
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Meningococcal Meningitis
Lethargy, Hypotension, Elevated circulating C-reactive protein concentration, Shock, Renal insuff... ORPHA:33475
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Orthostat... ORPHA:95513
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis, Failure to thrive, Microc... OMIM:619218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Cortical dysplas... OMIM:615287
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Tetraploidy
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Intrauterine growth retardation, Renal hypoplas... ORPHA:3305
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Cellulitis, Hypotension, Hyponatremia, Ataxia, Myocarditis, ... ORPHA:549
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hypovolemia, Hyperp... ORPHA:47159
Carney Complex
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Elevated circulating gro... ORPHA:1359
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Elevated hepatic transaminase, Hypote... ORPHA:542323
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hypothyroidism, Growth delay, Cerebral atrophy, Testicular atrop... OMIM:222300
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Dif... OMIM:251300
Chromosome 5Q12 Deletion Syndrome
Hypotension, Decreased body mass index OMIM:615668
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis, Vasculitis, Psoriasiform dermatitis ORPHA:279914
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Mercury Poisoning
Dystonia, Acute kidney injury, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Hypertension, Renal tubular atrophy, Re... OMIM:613159
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Increased serum pyruvate, Hyp... ORPHA:79243
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circu... OMIM:223900
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Hydronephrosi... ORPHA:1926
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Webb-Dattani Syndrome
Neurogenic bladder, Hypernatremia, Hypoplasia of the corpus callosum, Secondary microcephaly, Pit... OMIM:615926
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension, Unsteady gait, Limb hypertonia, Pica OMIM:618480
Yellow Fever
Arrhythmia, Lethargy, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive... ORPHA:99829
Wolfram Syndrome
Dysuria, Male hypogonadism, Gastrointestinal hemorrhage, Polydipsia, Abnormality of the urinary s... ORPHA:3463
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated cir... ORPHA:94093
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Decr... OMIM:137920
Igg4-Related Aortitis
Increased inflammatory response, Abnormal aortic arch morphology, Weight loss, Thoracic aortic an... ORPHA:449400
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rhe... ORPHA:227982
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Cholera
Hypocalcemia, Abnormality of renal excretion, Lethargy, Acute kidney injury, Hypotension, Hyponat... ORPHA:173
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rheumatoid arthriti... ORPHA:227990
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hypothyroidism, Hyponatremia, Polyuria, Hypertriglyceridemia, Renal d... OMIM:618183
Hydroxykynureninuria
Hypotension, Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hypoplasia of the corpus callosum, Vesicoureteral reflux, Hydronephrosis, Agene... OMIM:613735
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect OMIM:607598
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Hypertension, Glomerulonephritis, Glo... OMIM:104200
Colchicine Poisoning
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Desmoid Tumor
Hydronephrosis, Gastrointestinal hemorrhage, Abnormality of the upper urinary tract ORPHA:873
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Congenital Hypothyroidism
Macroglossia, Arrhythmia, Goiter, Anterior hypopituitarism, Hypotension, Hypothyroidism, Umbilica... ORPHA:442
Scrub Typhus
Hypotension, Renal insufficiency, Lethargy, Myocarditis ORPHA:83317
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... ORPHA:31826
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Small cerebral cortex, Short stature, Simplified gyral ... OMIM:617914
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Hypotension, Elevated circulating creatinine concentration, Recurrent u... ORPHA:36234
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension, Oligomenorrhea OMIM:613877
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hypertension, Renal tubular ac... OMIM:610205
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Unilateral renal agenesis, Hypertensi... OMIM:216360
Erdheim-Chester Disease
Dysuria, Weight loss, Ataxia, Congestive heart failure, Hydronephrosis, Diabetes insipidus, Hypog... ORPHA:35687
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Postnatal growth reta... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Postnatal growth reta... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Postnatal growth reta... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Postnatal growth reta... ORPHA:881
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... OMIM:203780
Mental Retardation, Autosomal Recessive 3
Hypomimic face, Hyperactivity OMIM:608443
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly OMIM:102700
Recombinant Chromosome 8 Syndrome
Growth delay, Cerebral atrophy, Postnatal growth retardation, Pulmonic stenosis, Hydronephrosis, ... OMIM:179613
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Short stature, Intrauterine ... ORPHA:1745
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis, Microcephaly OMIM:617913
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increas... ORPHA:727
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Pollakisuria, Hypotension, Hypothyroidism, Ga... ORPHA:93256
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Beta-Ketothiolase Deficiency
Hyperammonemia, Oral aversion, Hypotension, Hyperuricemia, Hypertension, Weight loss, Ataxia, Ket... ORPHA:134
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone... ORPHA:91354
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Writer's cramp, Hypercalciuria, Congestive heart failure, ... ORPHA:428
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Gapo Syndrome
Hepatomegaly, Tubulointerstitial fibrosis OMIM:230740
Primary Sjögren Syndrome
Vasculitis, Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Optic neuritis, Glomerul... ORPHA:289390
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Small intest... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Small intest... ORPHA:100077
Dengue Fever
Hypoproteinemia, Lethargy, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Prune Belly Syndrome
Abnormal heart morphology, Urethral valve, Hydroureter, Hydronephrosis, Congenital posterior uret... OMIM:100100
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
H Syndrome
Bronchiectasis, Enlarged kidney, Abnormal cardiovascular system physiology, Hypogonadism, Hypertr... ORPHA:168569
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplasti... ORPHA:1727
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl... ORPHA:411629
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Polymicrogyria, Hydronephrosis, Failure to thrive, Growth delay ORPHA:488613
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Abnormal cardiac septum morphology, Hydronephrosis OMIM:616449
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, H... OMIM:619179
Sarcoidosis
Bronchiectasis, Maculopapular exanthema, Weight loss, Hypercalciuria, Hypercalcemia, Renal insuff... ORPHA:797
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Chronic otitis media, Unilateral renal agenesis, Hydronephrosi... OMIM:609757
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Weight loss, Elevated circulating C-reactive protein concentr... ORPHA:900
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydroureter, Tricuspid regurgitation, Urethral diverticulum, Hydronephrosis, M... OMIM:212093
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Polymicrogyria, D... OMIM:608022
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Duplicated collecting system, Abnormal left ventricular functi... OMIM:301056
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Nephropathy, Cerebral artery atherosclerosis, Diabetes mellitus,... OMIM:209010
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Pulmonary arterial hypertension, Heparan sulfate excretion in urine, Tricuspid r... ORPHA:505248
Joubert Syndrome 7
Abnormal corpus callosum morphology, Nephronophthisis, Renal cyst OMIM:611560
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarction, Renal insufficiency, Nephri... ORPHA:182050
Netherton Syndrome
Skin rash, Erythroderma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Short stature, Eczema ORPHA:634
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Hypotension, Pituitary hypothyroidism, Dela... ORPHA:95619
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Horseshoe kidney, Renal malr... OMIM:601186
Frasier Syndrome
Focal segmental glomerulosclerosis, Hypertension, Glomerulopathy, Nephroblastoma, Nephrotic syndr... ORPHA:347
Sepsis In Premature Infants
Hypotension, Reversible renal failure, Decreased body weight, Oliguria, Tachycardia, Elevated cir... ORPHA:90051
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Orthostatic hypotension, Lipo... OMIM:606721
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Raynaud phenomenon OMIM:607944
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Primary hyperparathyroidism, Pan... OMIM:600740
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperprolinemia, Hyperactivity OMIM:239500
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypotension, Elevated circulating parathyroid hormone level, H... ORPHA:439822
Hadziselimovic Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Failure to thrive, Short stature, Pulmonary ... OMIM:612946
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elev... ORPHA:230
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Abnormal pulse pressure, Acute kidney injury, Hypotension, Sinus tachycar... ORPHA:466650
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Elevated circulating growth hormone c... ORPHA:97287
Cranioectodermal Dysplasia 1
Hypocalcemia, Rhizomelia, Hepatomegaly, Tubulointerstitial nephritis, Chronic kidney disease, Ren... OMIM:218330
Verheij Syndrome
Renal hypoplasia, Growth delay, Cerebral atrophy, Renal cyst, Short stature, Renal agenesis, Micr... OMIM:615583
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts, Hepatic cysts OMIM:616307
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Growth delay, Hydronephrosis, Hypoplasia of penis, Intrauterine growth retardation, Microcephaly ORPHA:2083
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:614473
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Tricuspid regurgitation, Vesicoureteral reflux, Hydronephrosis, Failure to thri... OMIM:618460
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Intrauteri... OMIM:608779
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Elevated circulating creatine kinase concentration, Hepatic failure, Nephro... OMIM:607426
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Atypical pulmonary carcinoid tumor, Hypotension, Carcino... ORPHA:100080
Toluene Embryopathy
Microcephaly, Hydronephrosis, Short stature, Abnormal localization of kidney ORPHA:1920
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Psoriasiform dermatitis, Vesicoureteral... ORPHA:2237
Johanson-Blizzard Syndrome
Hypoproteinemia, Intrauterine growth retardation, Hydronephrosis, Failure to thrive, Hypoplasia o... ORPHA:2315
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Hydranencephaly, Renal cyst, Urete... OMIM:236500
Atresia Of Urethra
Megacystis, Hydroureter, Pulmonary insufficiency, Recurrent urinary tract infections, Renal dyspl... ORPHA:105
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Renal hypoplasia, Hypoplasia of the corpus callosum, Renal tubular acidosis, Renal dy... OMIM:614922
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Aplasia/Hypoplasia of the corpus callosum, Postnatal growth retardation ORPHA:531151
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hypertension, Ataxia, Hyper... ORPHA:363400
Bardet-Biedl Syndrome 3
Renal hypoplasia, Tricuspid regurgitation, Obesity OMIM:600151
Kleefstra Syndrome
Arrhythmia, Coarctation of aorta, Chronic otitis media, Microcephaly, Cerebral cortical atrophy, ... ORPHA:261494
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Abnormal renal resorption, Hypocalcemic tetany, Hyperaldost... ORPHA:73224
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Growth delay, Duplicated collecting system, Decreased serum zinc, Hydronephrosis, In... ORPHA:541423
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Periodontitis, Growth delay, Moderate albuminuria, Type I diabetes m... OMIM:619269
Serotonin Syndrome
Acute kidney injury, Hypotension, Rhabdomyolysis, Hypertension, Tachycardia ORPHA:43116
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Growth delay, Hypoplasia of the thymus, Pulmonic stenosis, Hepatomegaly, Hydronephrosis, Failure ... OMIM:612541
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, Diabetes insipidus, Polydi... ORPHA:3157
Nipah Virus Disease
Hypotension ORPHA:99825
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Necrotizing Enterocolitis
Lethargy, Hypotension, Hyponatremia, Small for gestational age, Shock, Bradycardia ORPHA:391673
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Intestinal carcinoid, Arrhythmia, Right ventricular failure, Ele... ORPHA:100076
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Hypertension, Microscopic hematuria, Glomerular basement ... OMIM:301050
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Zttk Syndrome
Horseshoe kidney, Aortic regurgitation, Hypoplasia of the corpus callosum, Abnormal cerebral whit... OMIM:617140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Microcephaly, Hydronephrosis, Small for gestational age, Cardiomegaly, Intrauterine growth retard... OMIM:616897
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Toxic Epidermal Necrolysis
Dysuria, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Dysphagia, Acute hepatic fai... ORPHA:537
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Aortic valve stenosis, Polycyst... OMIM:208540
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Zellweger Syndrome
Primary adrenal insufficiency, Multicystic kidney dysplasia, Hepatomegaly, Polymicrogyria, Hydron... ORPHA:912
Feingold Syndrome Type 1
Nephritis, Tricuspid atresia, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... ORPHA:391641
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart failure, Pulmonary ar... ORPHA:220393
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Atypical pulmonary carcinoid ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Atypical pulmonary carcinoid ... ORPHA:100082
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Weight loss ORPHA:514
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hypoplasia of the corpus callosum, Hydronephrosis OMIM:618060
Micro Syndrome
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Abnormal localization of kidney, Cerebral ... ORPHA:2510
Acquired Von Willebrand Syndrome
Joint hemorrhage, Hematuria, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemo... ORPHA:99147
Staphylococcal Necrotizing Pneumonia
Lethargy, Hypotension, Increased circulating procalcitonin concentration, Elevated circulating C-... ORPHA:36238
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Agenesis of corpus callosum, Absent septum pellucidu... OMIM:609053
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Joubert Syndrome 22
Renal hypoplasia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Intrauterine grow... OMIM:615665
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Lethargy, Hypotension, 3-Methylglutaric aciduria, Hyperuricemia, Weight loss, Ata... ORPHA:20
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Tarp Syndrome
Horseshoe kidney, Abnormal corpus callosum morphology, Hydronephrosis, Failure to thrive, Intraut... OMIM:311900
Trisomy 13
Multiple renal cysts, Atrial septal defect, Ventricular septal defect, Abnormality of the ureter,... ORPHA:3378
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Pseudohypoparathyroidism, Hypoplasia of the corpus callosum, Obesity, Vesicoure... ORPHA:464288
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Adrenal hypoplasia, Hypotension, Decreased c... ORPHA:199296
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Hypothyroidism, Telangiectasia of the skin, Renal dysplasia, Short stature, Hyp... ORPHA:85321
Endocrine-Cerebroosteodysplasia
Microphallus, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Enlarged kidney, Hyp... OMIM:612651
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:276621
Familial Cold Urticaria
Polydipsia ORPHA:47045
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Pol... OMIM:618454
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Renal dysplasia, Neonatal death, Vesic... ORPHA:85284
Infant Botulism