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Gene: Apela MGI:3642370

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
apelin receptor early endogenous ligand
Synonyms:
Gm10664,  Ela,  Elabela,  Ende

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Apela mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Edema, Intrauterine growth retardation OMIM:189800
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria, Hypertension ORPHA:2820
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, N... ORPHA:1192
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria ORPHA:2613
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertens... OMIM:603278
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... OMIM:615573
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... ORPHA:275555
Cednik Syndrome
Proteinuria, Short stature, Congestive heart failure, Nephrotic syndrome, Hypogonadism ORPHA:66631
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... OMIM:600995
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn... ORPHA:84090
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
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
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Amyloidosis, Familial Visceral
Proteinuria, Edema, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy OMIM:105200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Galloway-Mowat Syndrome 5
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... OMIM:617731
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-marrow foam ce... OMIM:256550
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Galloway-Mowat Syndrome 6
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial sept... ORPHA:2260
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Edema OMIM:614652
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:567548
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Edema, Minimal change glomer... OMIM:618348
Renal Hypoplasia, Bilateral
Proteinuria, Short stature, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypopl... ORPHA:97362
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Proteinuria ORPHA:2143
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... OMIM:610725
Schimke Immuno-Osseous Dysplasia
Proteinuria, Transient ischemic attack, Short stature, Minimal change glomerulonephritis, Congest... ORPHA:1830
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria, Foam cells OMIM:245900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Short stature, Growth delay, Delayed puberty, Hypertrophi... ORPHA:369
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morphology, Nephro... ORPHA:85445
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Lymphedema, Transient i... OMIM:301500
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury ORPHA:54057
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Cryptorchidism, Stag... OMIM:617575
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Al Amyloidosis
Xerostomia, Abnormal EKG, Abnormality of the kidney, Nephrotic syndrome, Renal insufficiency, Jaw... ORPHA:85443
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Transient ischemic attack, Bilateral cryptorchidism, Disproport... OMIM:242900
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... OMIM:615244
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:656
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Pericarditis, Proteinuria, Recurrent urinary tract infections, Edema, Portal... OMIM:619487
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Congestive heart failure, Patent ductus arteriosus, Nephrotic syndrome, Focal segmen... OMIM:617303
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... OMIM:256300
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Predominantly lower limb lymphed... ORPHA:33001
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Stage 5 chronic kidney disease, C... OMIM:617729
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Chro... ORPHA:567546
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... OMIM:617730
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria ORPHA:375
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Gastrointestinal hemorrhage, Renal insufficiency, Primary testicular failure, P... ORPHA:85450
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re... OMIM:120330
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syndrome, Focal s... OMIM:607426
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial ef... ORPHA:36412
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Ventricular septal defect, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ... OMIM:613404
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Menorr... ORPHA:182050
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Hematuria, Syncope,... ORPHA:71273
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... ORPHA:91139
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Dehydration, Renal tubular ... ORPHA:213
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Cryptorchidism, Heart murmur, Multiple bladder diverti... ORPHA:2728
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atherosclerosis, Acute kidney i... ORPHA:650
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p... ORPHA:183
Free Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Proteinuria, Hydrops fetalis ORPHA:834
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, He... ORPHA:93552
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Growth delay, Nephr... OMIM:614034
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Abnormal aortic valve... ORPHA:86818
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, M... ORPHA:247691
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Hypertension, Bilateral renal agenesis, Renal dysplasia, Oligohy... OMIM:191830
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Stage 5 chronic kidney disease, Renal... OMIM:614376
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Short stature, Cor pulmonale, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Edema, Raynaud phenomenon, Punctate vasculitis skin les... OMIM:192315
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... ORPHA:324
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Hyp... OMIM:231530
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Anasarca, Abnormal renal physiology OMIM:123550
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Umbilical hernia, Ventricular septal defect, Proteinuria OMIM:222448
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Proteinuria, Short stature, Hematuria, Tubulointerstitial nephritis OMIM:616901
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... OMIM:230400
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Telangiectasia, Chordee, Umbilic... OMIM:300519
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... OMIM:209010
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury OMIM:618886
Dyschondrosteosis-Nephritis Syndrome
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... ORPHA:1765
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Ri... ORPHA:90291
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Hypertension, Macroscopic h... ORPHA:251004
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... ORPHA:368
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Endocarditis, Hematuria, Hypotension... ORPHA:549
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Gaucher Disease Type 1
Proteinuria, Pericardial effusion, Pedal edema, Hematuria, Pulmonary arterial hypertension, Growt... ORPHA:77259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Polyhydramnios ORPHA:2774
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Premature ovarian insufficiency, Proteinuria, Nonimmune hydrops fetalis, Edema, Hyp... OMIM:212065
Renal Agenesis
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... ORPHA:411709
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Growth delay, Glycosuria, Aminoaciduria, Low-molecular-weight p... OMIM:615605
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Growth delay, Ren... OMIM:243910
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Short stature, Hematuria, Nep... OMIM:161200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Red-brown urine, Renal tub... ORPHA:228308
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia ORPHA:1307
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dicarboxylic aciduria, Proportionate short stature, Myoglobinuria, Dilated... ORPHA:71212
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardiomegaly, Hepato... OMIM:201475
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Hypogonadotropic hypogonadism, Cardiac conduction ab... ORPHA:550
Glycogen Storage Disease Ia
Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, Hy... OMIM:232200
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Hypovolemia, Bicarbonaturia,... ORPHA:47159
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Albuminuria, Am... OMIM:214100
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria ORPHA:91138
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... OMIM:254900
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
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... ORPHA:904
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Short stature, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Red-brown urine, Cardiomyopathy, Arrhythmia, Myoglobinuria ORPHA:228305
Ddost-Cdg
Nephrotic range proteinuria, Short stature ORPHA:300536
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Severe short stature, Hyperten... OMIM:610965
Ohdo Syndrome
Cryptorchidism, Proteinuria, Short stature OMIM:249620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Neph... OMIM:300554
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Short stature, Pericardial effusion, Cryptorchidism, Patent ductus art... ORPHA:1272
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... OMIM:613845
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubulointerstitial nephr... ORPHA:449395
Hellp Syndrome
Pulmonary edema, Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Pleural effusion,... ORPHA:244242
Agel Amyloidosis
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Blepharochalasis,... ORPHA:85448
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnormal pulmonary va... ORPHA:2162
Cystinosis, Nephropathic
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Short stature, S... OMIM:219800
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Nephrotic syndrome,... OMIM:251300
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... OMIM:227810
Galloway-Mowat Syndrome
Proteinuria, Short stature, Nephrotic syndrome, Nephropathy, Intrauterine growth retardation ORPHA:2065
Spondyloenchondrodysplasia
Proteinuria, Short stature, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Disproportion... ORPHA:1855
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:18
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Myoglobinuria, Acute kidney injury, Arrhythmia ORPHA:57
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Dehydration, Hypertension, Br... ORPHA:94093
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Primary amenorrhea, Thicken... OMIM:146255
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Arrhythmia, Myoglobinuria OMIM:609015
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Gaucher Disease Type 3
Mitral valve calcification, Proteinuria, Abnormal heart valve morphology, Pericardial effusion, A... ORPHA:77261
Glycogen Storage Disease Ib
Proteinuria, Short stature, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, De... OMIM:232220
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria ORPHA:119
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Irregular menstruation, Growth delay, Renal tubular acidosis, Cardio... ORPHA:264580
Diffuse Alveolar Hemorrhage
Hematuria, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature ORPHA:2715
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Cryptorchidism, Hypertension, Mal... ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Proximal renal t... ORPHA:534
Familial Mediterranean Fever
Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Vasculitis, Pedal edema, Nephrocalcin... ORPHA:342
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Edema ORPHA:77297
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Cardiac arrest, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Hypertroph... OMIM:616878
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Congestive heart ... ORPHA:2331
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Short stature, Cryptorchidis... OMIM:122470
Orofaciodigital Syndrome I
Proteinuria, Short stature, Myelomeningocele, Abnormal heart morphology, Hypertension, Polycystic... OMIM:311200
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Predominantly lower limb lymphedema, Lymphedema, Orchitis, Abnor... ORPHA:2035
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Wagro Syndrome
Hypertension, Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Wilson Disease
Hyperphosphaturia, Proteinuria, Edema, Nephrolithiasis, Hypercalciuria, Pedal edema, Renal tubula... OMIM:277900
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Microsc... OMIM:274150
Papa Syndrome
Proteinuria ORPHA:69126
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria OMIM:607155
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Postinfectious Vasculitis
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, O... ORPHA:48435
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration OMIM:602199
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Short stature, Irregular menstruation, Nephrolithiasis, Stage 5 chronic k... ORPHA:79259
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Acquired Generalized Lipodystrophy
Cardiomyopathy, Proteinuria, Hypertension, Abnormal cardiovascular system physiology ORPHA:79086
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi... OMIM:232240
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Orchitis, A... ORPHA:761
Pearson Syndrome
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Postnatal growth retardation, L... ORPHA:699
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Cryptorchidism, Patent ductus arteri... OMIM:616682
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Postnatal growth retardation, Irregular menstruation, Renal tubular ... ORPHA:79240
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Dehydration, Abnormal heart morph... ORPHA:99885
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Irregular menstruation, Hyperten... OMIM:216400
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Retinal hemorrha... OMIM:609049
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abnormal heart morphology, Tubulointe... ORPHA:470
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, Myoglobinuria ORPHA:206549
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach... ORPHA:423
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Short stature, Chronic kidney disease, Renal cyst, Pulmonary in... OMIM:208500
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Renal insufficiency, Mild proteinuria OMIM:619147
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Dehydration, Abnormal tubulointerstitial morphology, Renal tubular dysfunction... ORPHA:411629
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardation, Cryptorchid... OMIM:133540
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... ORPHA:447
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Myocarditis, Oliguria, Hypertension, Pleural empyema, Acute kidney injury, Nephrot... ORPHA:544482
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Short stature, Postnatal growth... OMIM:619127
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration OMIM:619377
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Palpitations OMIM:255125
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Mild proteinuria OMIM:619685
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micropenis OMIM:619471
Gaucher Disease
Mitral valve calcification, Proteinuria, Abnormal pericardium morphology, Abnormal heart valve mo... ORPHA:355
Relapsing Polychondritis
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ... ORPHA:728
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Imerslund-Gräsbeck Syndrome
Tachycardia, Proteinuria ORPHA:35858
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Dehydration, Hemoglobinuria, Hypertension, Acute kidney injury ORPHA:90038
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis ORPHA:2750
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal tubular epithelial necrosis, Sterile pyuria, Beta 2-microglob... ORPHA:91500
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Insulin-Resistance Syndrome Type B
Proteinuria, Nephritis, Glycosuria ORPHA:2298
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Postnatal growth retardation, Cryptorchidi... OMIM:309000
Glycogen Storage Disease Xii
Hemoglobinuria, Short stature, Delayed puberty OMIM:611881
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Growth delay, Moderate albuminuria, Hydronephrosis, Proportionate short stature OMIM:619269
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Tetra... OMIM:619525
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Moderate albuminuria, Hypogonadism OMIM:614231
Pmm2-Cdg
Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Angina pectoris, Lymphedema, Pericardia... ORPHA:79318
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Xerostomia, Renal tubular epithelial necrosis, Hematuria, Mod... ORPHA:95455

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 Apela

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 Apela.

No publications found that use IMPC mice or data for Apela.

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