banner
Genes Phenotypes Help, News, Blog

Gene: Actn4 MGI:1890773

Log in to follow

Gene Summary

Name:
actinin alpha 4
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Actn4tm1a(EUCOMM)Wtsi HET Early adult 5.00×10-12
preweaning lethality, incomplete penetrance Actn4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal retina morphology Actn4tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

17 Images

View images
X-ray

XRay Images Skull Lateral Orientation

15 Images

View images
X-ray

XRay Images Forepaw

15 Images

View images
Histopathology

Images

4 Images

View images
Legacy Phenotype Associated Images
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 107 images

Actn4tm1a(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
corneal vascularization, HET, Female, WTSI
Actn4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Actn4 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 Actn4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656

The table below shows human diseases predicted to be associated to Actn4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt... OMIM:618882
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Polymicrogyria, Intrauteri... OMIM:301006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity, Death in chil... OMIM:620425
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Severe short stature ORPHA:2820
Nephrotic Syndrome, Type 1
Growth delay, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial ... OMIM:256300
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Polymicrogyria, Stage 5 chronic kidney disease, Congenital ne... OMIM:617730
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Decreased body weight, Prote... OMIM:618347
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Death in chil... OMIM:301108
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Growt... ORPHA:567548
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Intrauterine growth reta... OMIM:617056
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Intrauterine growth retardation, ... ORPHA:99885
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation OMIM:189800
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Short s... OMIM:615993
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Mesangial Immune complex deposition, Chronic decr... OMIM:613496
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Obesity, Proportionate short stature, Hydronephrosis, Growth delay OMIM:619269
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria OMIM:230400
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Death in childhood OMIM:256150
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency OMIM:618681
Nephronophthisis
Renal insufficiency ORPHA:655
Ethanolaminosis
Cardiomegaly OMIM:227150
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Podocyte foot process effacement, Proteinuria, Diffuse mesangial ... OMIM:619609
Cednik Syndrome
Pachygyria, Polymicrogyria, Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Proteinuria, Glomerular sclerosis, Ab... ORPHA:439232
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Death in infancy, Micropenis, Agyria, Gray matter heter... OMIM:300067
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Galloway-Mowat Syndrome 3
Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disease, Proteinuria, ... OMIM:617729
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss, Increased circulating antibody level ORPHA:100024
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Short stature, Nephrotic syn... OMIM:215250
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Autoinflammatory-Pancytopenia Syndrome
Proteinuria, Growth delay, Failure to thrive, Membranoproliferative glomerulonephritis OMIM:619858
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Growth delay ORPHA:79238
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Stage 5 chronic kidney disea... OMIM:242900
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity, Simplified gyral pattern OMIM:614231
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Increased circulating IgE level, Hematuria, Weight loss, Tubu... ORPHA:449395
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Al Amyloidosis
Renal insufficiency, Increased circulating antibody level, Proteinuria, Renal interstitial amyloi... ORPHA:85443
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy... OMIM:619487
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Retinitis Pigmentosa 59
Micropenis, Intrauterine growth retardation, Renal insufficiency, Failure to thrive OMIM:613861
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Preeclampsia
Chronic kidney disease, Acute kidney injury, Intrauterine growth retardation, Renal insufficiency... ORPHA:275555
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Short stature ORPHA:3156
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria ORPHA:1192
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Ch... OMIM:614376
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:615605
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Proteinuria, Delayed puberty, Abnormality of the kidney, Short stature, Growth... ORPHA:369
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Polymicrogyria, Death in childhood, Hydronephrosis, Gray matter... OMIM:214100
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Increased bl... OMIM:612925
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Glomerular sclerosis, Increased blood urea nitrogen, Abnormal renal physiology OMIM:223900
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Death in childhood, P... OMIM:617303
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... OMIM:602522
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Decreased circulati... ORPHA:859
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glome... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hemolytic-ure... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hemolytic-ure... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hemolytic-ure... OMIM:612926
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Renal insufficiency, Protein... OMIM:251300
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Displacement of the urethral meatus, Short stature, Hypoplasia of p... ORPHA:2377
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hemolytic-ure... OMIM:612924
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis... ORPHA:90291
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency, Short stature ORPHA:474
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive ORPHA:28
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Failure to thrive, Intrauterine growth retardation, Renal tubular acidosi... ORPHA:324525
Syndromic Recessive X-Linked Ichthyosis
Short stature, Unilateral renal agenesis, Renal insufficiency, Lissencephaly ORPHA:281090
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Renal insufficiency,... OMIM:276700
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Glomerular sclerosis ORPHA:247691
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232220
Attrv30M Amyloidosis
Nephropathy, Weight loss, Abnormal renal physiology ORPHA:85447
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Hematuria, Proteinuria, Tubulointerstitial nephritis, Short... OMIM:616901
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Short stature OMIM:617661
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Death in infancy, Lacticaciduria OMIM:619386
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Polyuria, Increas... OMIM:613845
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Sho... OMIM:613390
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Intrauterine growth retardation, Mesomelic short stature, Proteinuria, Hematuria, Sh... ORPHA:1765
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... ORPHA:213
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis OMIM:314000
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome, Failure to thrive in infancy ORPHA:834
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Renal insufficiency, Death in childhood, Death in infancy, Membranoproliferati... OMIM:619644
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Myh9-Related Disease
Nephropathy, Nephritis, Renal insufficiency, Proteinuria ORPHA:182050
Acquired Ichthyosis
Renal insufficiency ORPHA:454
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Renal insufficiency, Mesangi... ORPHA:91139
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency ORPHA:510
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Malaria
Acute kidney injury ORPHA:673
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He... OMIM:232240
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Familial Renal Glucosuria
Nephropathy, Moderate postnatal growth retardation, Glycosuria, Recurrent urinary tract infection... ORPHA:69076
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... ORPHA:223
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Pachygyria, Intrauterin... OMIM:617595
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight ORPHA:1672
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Short ... ORPHA:320
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Renal insufficiency, Death in childhood, Growth delay, Small for gestational a... OMIM:619147
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss ORPHA:35710
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Ddost-Cdg
Nephrotic range proteinuria, Short stature, Failure to thrive ORPHA:300536
Galloway-Mowat Syndrome
Nephropathy, Intrauterine growth retardation, Abnormality of neuronal migration, Proteinuria, Pac... ORPHA:2065
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency, Short stature ORPHA:1307
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria ORPHA:411543
Majeed Syndrome
Failure to thrive, Proteinuria, Glomerulopathy, Cachexia, Weight loss, Microscopic hematuria ORPHA:77297
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Abnormal renal co... OMIM:616733
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Death in infancy OMIM:618886
Neuraminidase Deficiency
Proteinuria, Increased urinary O-linked sialopeptides, Short stature, Urinary excretion of sialyl... OMIM:256550
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Polymicrogyria, Pachygyria, Stage 5 chronic kidney disease, Abnormality of neuro... ORPHA:157
Muckle-Wells Syndrome
Short stature, Renal amyloidosis, Renal insufficiency OMIM:191900
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Growth delay ORPHA:57
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Growth delay ORPHA:289916
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Central Diabetes Insipidus
Weight loss, Failure to thrive, Nocturia ORPHA:178029
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency, Short stature ORPHA:2715
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Papa Syndrome
Proteinuria, Increased circulating antibody level ORPHA:69126
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Death... OMIM:220110
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Decreased platelet glycoprotein Ib OMIM:603585
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:91138
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure to thrive, Po... OMIM:227810
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin... ORPHA:79101
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... OMIM:219730
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Pulmonary Blastoma
Weight loss ORPHA:64741
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Protein... ORPHA:550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... ORPHA:18
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... OMIM:256700
Xfe Progeroid Syndrome
Severe short stature, Failure to thrive, Renal insufficiency, Proteinuria, Death in adolescence, ... OMIM:610965
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature OMIM:602152
Complement Factor I Deficiency
Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections OMIM:610984
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Growth delay, Proteinuria OMIM:614034
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E... ORPHA:94080
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Proteinuria, Increased blood urea nitrogen, Microscopic hematuria, Hem... OMIM:274150
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Rhabdoid Tumor
Hematuria, Weight loss, Renal neoplasm ORPHA:69077
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Short stature, Methylmalonic aciduria ORPHA:1933
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Growth dela... ORPHA:411634
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Increased circulating antibod... OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Failure to thrive ORPHA:79312
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Intrauterine growth retardation, Multiple bladder dive... ORPHA:2728
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Polymicrogyria, Pachygyria, Renal insufficiency, Abnormal... ORPHA:228308
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Nephroblastoma
Hematuria, Weight loss, Nephroblastoma ORPHA:654
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, ... ORPHA:445038
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Intrauterine growth retardation, Vesicoureteral reflux, Proportionate short... ORPHA:3208
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Babesiosis
Renal insufficiency ORPHA:108
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Truncal obesity OMIM:615986
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Short stature, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Renal insufficiency, Chordee, Hypo... ORPHA:96179
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Weight loss ORPHA:188
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Obesity, Nephronophthisis, Short stature OMIM:615630
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria ORPHA:71273
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:603860
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Short stature OMIM:247410
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449400
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Urinary mulberry cells OMIM:301500
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:36412
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Multiple... OMIM:613095
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary... OMIM:118450
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Growth delay, Dicarboxylic aciduria OMIM:231530
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Renal tubular acidosis, Proteinu... ORPHA:358
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Proteinuria, Increased body weight, Renal Fanconi syndrome ORPHA:263455
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Obesity, Stage 1 chronic kidney disease OMIM:618821
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria... ORPHA:1018
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Failure to thrive, Postnatal growth retardation, Intrauterine growth r... OMIM:610198
Arima Syndrome
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ... OMIM:243910
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Growth delay, Glycosuria, Failure to thrive, Failure to... OMIM:219800
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... OMIM:613550
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Holocarboxylase Synthetase Deficiency
Weight loss, Growth delay, Organic aciduria ORPHA:79242
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Short stature, Nephrotic syndrome OMIM:161200
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Renal insufficiency ORPHA:83313
Yao Syndrome
Weight loss, Nephrolithiasis OMIM:617321
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricosuria, Short stature, Uric acid ... OMIM:300661
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Proteinuria, Moderate proteinuria, Hemoly... OMIM:301110
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys... OMIM:617641
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Proximal tubulopathy, Failure to thrive, Decreased circulating I... OMIM:212065
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Postnatal growth retardation, Death in childhood, Proteinuria... OMIM:619127
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria, Death in infancy, Neonatal death OMIM:620300
Pseudo-Torch Syndrome 1
Failure to thrive, Polymicrogyria, Renal insufficiency, Pachygyria, Lissencephaly OMIM:251290
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Tubulointerstitial neph... ORPHA:183
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst... OMIM:208500
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Short stature ORPHA:1563
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Failu... OMIM:277400
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Weight loss, Failure to thrive OMIM:619377
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s... ORPHA:261265
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Legionnaires Disease
Hematuria, Proteinuria, Bone marrow hypocellularity, Renal insufficiency ORPHA:549
Joubert Syndrome 3
Stage 5 chronic kidney disease, Frontal polymicrogyria, Nephronophthisis OMIM:608629
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine growth retar... OMIM:611209
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Aredyld Syndrome
Short stature, Abnormality of the ureter, Intrauterine growth retardation, Cachexia ORPHA:1133
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Lamellar Ichthyosis
Short stature, Renal insufficiency ORPHA:313
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency ORPHA:27
Cockayne Syndrome Type 1
Failure to thrive, Postnatal growth retardation, Renal insufficiency, Proteinuria, Increased bloo... ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... ORPHA:411629
Idiopathic Achalasia
Weight loss ORPHA:930
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Isolated Sedoheptulokinase Deficiency
Short stature, Severe postnatal growth retardation, Abnormal renal tubule morphology, Renal insuf... ORPHA:440713
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Chordee, Micropenis, Short stature OMIM:300519
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease OMIM:613819
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Polymicrogyria, Renal insufficiency, Death in infancy, Hydronephrosis, Abnormali... OMIM:608836
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Death in childhood OMIM:619685
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Lymphatic Filariasis
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... ORPHA:2035
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Abnormality of T cell phys... ORPHA:2237
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Weight loss, Renal insufficiency ORPHA:139402
Imerslund-Gräsbeck Syndrome
Proteinuria, Weight loss, Failure to thrive ORPHA:35858
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Oroticaciduria, Decreased g... ORPHA:470
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Death in childhood, Proteinuria, Diffuse ... OMIM:609049
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Grow... ORPHA:96147
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Renpenning Syndrome
Severe short stature, Cachexia, Hypospadias, Growth delay ORPHA:3242
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Wolcott-Rallison Syndrome
Chronic kidney disease, Renal insufficiency, Decreased body weight, Short stature, Growth delay ORPHA:1667
Wagro Syndrome
Proteinuria, Obesity, Nephroblastoma OMIM:612469
Insulin Autoimmune Syndrome
Weight loss, Increased circulating antibody level ORPHA:411593
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Hellp Syndrome
Hemoglobinuria, Proteinuria, Acute kidney injury, Increased body weight ORPHA:244242
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Small for gestational age, Failure to thrive OMIM:609015
Multiple Myeloma
Nephropathy, Acute kidney injury, Decreased circulating antibody level, Increased circulating IgA... ORPHA:29073
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
Bardet-Biedl Syndrome 17
Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Heparan sulfate excretion in urine,... ORPHA:505248
Lead Poisoning
Chronic kidney disease, Increased circulating IgE level, Renal tubular dysfunction, Delayed puber... ORPHA:330015
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Helix Syndrome
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis OMIM:617671
Castleman Disease
Hematuria, Ureteral obstruction, Weight loss, Renal insufficiency ORPHA:160
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria ORPHA:42
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Cystic Echinococcosis
Renal cyst, Weight loss, Membranous nephropathy, Increased circulating antibody level ORPHA:400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Thymoma
Decreased circulating antibody level, Weight loss, Glomerulonephritis ORPHA:99867
Joubert Syndrome With Oculorenal Defect
Nephropathy, Abnormality of neuronal migration, Renal insufficiency ORPHA:2318
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Spondyloenchondrodysplasia
Chronic kidney disease, Hematuria, Proteinuria, Disproportionate short-trunk short stature, Short... ORPHA:1855
Postinfectious Vasculitis
Increased circulating antibody level, Hematuria, Proteinuria, Increased circulating IgA level, We... ORPHA:48435
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Postnatal growth retardation OMIM:620366
Huntington Disease-Like 2
Weight loss ORPHA:98934
Scrub Typhus
Renal insufficiency ORPHA:83317
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Polymicrogyria ORPHA:220497
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Death in infancy, Dicarboxylic aciduria OMIM:201475
Kleefstra Syndrome
Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Short stature, M... ORPHA:261494
Adult-Onset Still Disease
Proteinuria, Bone marrow hypocellularity, Weight loss ORPHA:829
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Pyomyositis
Weight loss, Renal insufficiency ORPHA:764
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dicarboxylic aciduria, Intrauterine growth retardation, Proportionate short st... ORPHA:71212
Fatal Familial Insomnia
Weight loss, Urinary retention OMIM:600072
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Renal tubular acidosis, Increased body weight, Myoglobinuria, Short... ORPHA:79240
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Abnormality of body weight, Decreased body weight, Proteinuria, Increased ... ORPHA:2298
Sifrim-Hitz-Weiss Syndrome
Micropenis, Vesicoureteral reflux, Renal insufficiency, Short stature OMIM:617159
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, In... ORPHA:91500
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitrogen ORPHA:94059
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive OMIM:608091
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria... ORPHA:79259
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Increased body weight, Myoglobinuria, Delayed puberty,... ORPHA:264580
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Hyperechogenic kidneys, Rhizomelic arm shortening, Renal cortical cysts, Renal... ORPHA:397715
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Short stature, Ecto... ORPHA:140952
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ... OMIM:208540
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Meningococcal Meningitis
Renal insufficiency ORPHA:33475
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Failure to thrive, Lacticaciduria OMIM:618250
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Weight loss, Lupus nephritis, Pyuria ORPHA:536
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Failure to thrive, Renal sodium wasting ORPHA:556037
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Weight loss, Increased body w... ORPHA:1501
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Refsum Disease
Renal insufficiency ORPHA:773
Relapsing Fever
Hematuria, Acute kidney injury, Abnormality of the urinary system ORPHA:91547
Cranioectodermal Dysplasia 4
Short stature, Bone marrow hypocellularity, Stage 5 chronic kidney disease OMIM:614378
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Failure to thrive, Renal sodium wasting ORPHA:556030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ... ORPHA:96148
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Failure to ... OMIM:251000
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of neuronal migration ORPHA:1454
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Decreased urine output, Renal tubular ... ORPHA:31826
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, W... ORPHA:900
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Liposarcoma
Weight loss, Abnormality of the kidney ORPHA:69078
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency, Death in infancy OMIM:617478
Silver-Russell Syndrome
Abnormality of the urinary system, Failure to thrive in infancy, Postnatal growth retardation, In... ORPHA:813
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Cockayne Syndrome B
Severe short stature, Failure to thrive, Postnatal growth retardation, Intrauterine growth retard... OMIM:133540
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Ogden Syndrome
Growth delay, Postnatal growth retardation, Intrauterine growth retardation, Global glomeruloscle... OMIM:300855
Bardet-Biedl Syndrome 20
Proteinuria, Obesity, Micropenis OMIM:619471
Cornelia De Lange Syndrome 1
Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedullary differentiation... OMIM:122470
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Gaucher Disease Type 3
Increased circulating antibody level, Hematuria, Proteinuria, Delayed puberty, Growth delay ORPHA:77261
Neuroblastoma
Weight loss, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated... ORPHA:635
Snakebite Envenomation
Acute kidney injury ORPHA:449285
Familial Glucocorticoid Deficiency
Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Weight loss, Renal salt wa... ORPHA:361
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Giant Cell Arteritis
Hematuria, Weight loss, Renal insufficiency ORPHA:397
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Postnatal growth retardation,... OMIM:309000
Acute Adrenal Insufficiency
Failure to thrive, Renal insufficiency, Decreased urinary potassium, Weight loss, Delayed puberty... ORPHA:95409
Pearson Syndrome
Bone marrow hypocellularity, Glycosuria, Postnatal growth retardation, Renal insufficiency, Prote... ORPHA:699
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Growth delay ORPHA:1764
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Generalized Pustular Psoriasis
Obesity, Overweight, Renal insufficiency ORPHA:247353
Erdheim-Chester Disease
Hydronephrosis, Weight loss, Dysuria, Renal insufficiency ORPHA:35687
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Delayed puberty, Short stature OMIM:208060
Lymphoid Interstitial Pneumonia
Weight loss, Enlarged kidney, Failure to thrive ORPHA:79128
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Reticular Dysgenesis
Decreased circulating antibody level, Weight loss, Failure to thrive ORPHA:33355
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Chronic Hiccup
Weight loss ORPHA:396
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Weight loss, Organic aciduria OMIM:301310
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
19Q13.11 Microdeletion Syndrome
Growth delay, Failure to thrive, Intrauterine growth retardation, Cachexia, Hypospadias ORPHA:217346
Stevens-Johnson Syndrome
Dysuria, Weight loss, Renal insufficiency, Abnormality of the urethra ORPHA:36426
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Failure to thrive, Intrauterine growth retardation, Renal insu... ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Failure to thrive, Renal insufficiency, Deat... ORPHA:534
8P23.1 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Obesity, Weight loss, Short stature, Hypospadias ORPHA:251071
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Familial Mediterranean Fever
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria ORPHA:342
Toxic Epidermal Necrolysis
Dysuria, Weight loss, Renal insufficiency, Abnormality of the urethra ORPHA:537
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Short stature, Renal insufficiency OMIM:226980
Isaacs Syndrome
Weight loss ORPHA:84142
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Hereditary Fructose Intolerance
Chronic kidney disease, Renal insufficiency, Growth delay ORPHA:469
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... ORPHA:322
Cockayne Syndrome
Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Postnatal growth retardation, ... ORPHA:191
Polyarteritis Nodosa
Weight loss, Abnormality of the kidney ORPHA:767
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Solitary Fibrous Tumor
Weight loss, Urinary retention ORPHA:2126
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Postnatal growth retardation, Nephroblastoma, Ectopi... OMIM:610832
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA:157973
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections ORPHA:36234
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Beta-Ketothiolase Deficiency
Weight loss, Ketonuria ORPHA:134
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Cockayne Syndrome A
Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Proteinuria, Severe post... OMIM:216400
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Miscarriage ORPHA:173
Hermansky-Pudlak Syndrome 1
Renal insufficiency OMIM:203300
Orofaciodigital Syndrome I
Abnormal cortical gyration, Proteinuria, Short stature, Gray matter heterotopia, Polycystic kidne... OMIM:311200
Mercury Poisoning
Acute kidney injury ORPHA:330021
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Avian Influenza
Acute kidney injury, Miscarriage ORPHA:454836
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Huntington Disease-Like 2
Weight loss OMIM:606438
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts OMIM:267010
Neuroleptic Malignant Syndrome
Urinary incontinence, Proteinuria, Myoglobinuria, Acute kidney injury ORPHA:94093
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Tafro Syndrome
Renal insufficiency ORPHA:457077
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay ORPHA:30925
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Glycogen Storage Disease Xii
Hemoglobinuria, Delayed puberty, Short stature OMIM:611881
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Renal insufficiency ORPHA:33226
Relapsing Polychondritis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:728
Riddle Syndrome
Enuresis nocturna, Decreased circulating IgG level, Decreased circulating IgA level, Weight loss,... ORPHA:420741
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Weight loss, Increased circulating antibody level ORPHA:284
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Decreased circulating IgG level, Decreased specific anti-polysacchar... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Decreased ci... OMIM:102700
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Abnormality of the urinary system ORPHA:702
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Juvenile Huntington Disease
Weight loss ORPHA:248111
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria ORPHA:25
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive ORPHA:1842
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Cranioectodermal Dysplasia 3
Short stature, Rhizomelia, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Renal insufficiency, Increased... ORPHA:449432
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Failure to thrive in infancy, Cachexia, Membranous nephropathy, ... ORPHA:37042
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Acute Generalized Exanthematous Pustulosis
Renal insufficiency ORPHA:293173
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Weight loss OMIM:209950
Orofaciodigital Syndrome Type 1
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency ORPHA:2750
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Growth delay, Recurrent urinary tract infections, Reduced renal co... ORPHA:731
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Small for gestational age, Decreased body weight ORPHA:90051
Hermansky-Pudlak Syndrome
Weight loss, Renal insufficiency ORPHA:79430
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Weight loss, Ketonuria ORPHA:20
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Aymé-Gripp Syndrome
Proteinuria, Postnatal growth retardation, Short stature ORPHA:1272
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Renal insufficiency ORPHA:319213
Christianson Syndrome
Cachexia, Death in early adulthood ORPHA:85278
X-Linked Intellectual Disability, Cabezas Type
Short stature, Hypoplasia of penis, Cachexia, Obesity ORPHA:85293
Alstrom Syndrome
Nephritis, Obesity, Renal insufficiency, Truncal obesity, Tubulointerstitial nephritis, Short sta... OMIM:203800
Mast Cell Sarcoma
Mastocytosis, Weight loss ORPHA:66661
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease, Death in early adulthood, Growth delay OMIM:608612
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Failure to thrive, Oroticaciduria, Stage 5 chronic kidney disease,... OMIM:222700
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Shigellosis
Urethritis, Failure to thrive in infancy, Acute kidney injury, Hemolytic-uremic syndrome ORPHA:810
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma... ORPHA:805
X-Linked Agammaglobulinemia
Agammaglobulinemia, Weight loss, Short stature, Failure to thrive ORPHA:47
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Hereditary Late-Onset Parkinson Disease
Weight loss, Spastic/hyperactive bladder ORPHA:411602
Holoprosencephaly
Abnormality of the urinary system, Failure to thrive in infancy, Proteinuria, Abnormality of neur... ORPHA:2162
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Weight loss, Hypospadias, Short stature OMIM:613673
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Q Fever
Hematuria, Weight loss, Increased circulating antibody level ORPHA:781
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia OMIM:616801
Caroli Disease
Weight loss, Polycystic kidney dysplasia ORPHA:53035
Serotonin Syndrome
Acute kidney injury ORPHA:43116
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Short stature OMIM:181270
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Growth delay, Recurrent urinary tract infections,... ORPHA:84
Felty Syndrome
Bone marrow hypocellularity, Weight loss, Recurrent urinary tract infections ORPHA:47612
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Pleural Mesothelioma
Weight loss ORPHA:50251
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormality of the kidney ORPHA:54251
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Cachexia, Weight loss,... ORPHA:275761
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss, Growth delay OMIM:266600
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Porphyria Cutanea Tarda
Porphyrinuria, Stage 5 chronic kidney disease, Increased urinary porphobilinogen ORPHA:101330
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Rhizomelia, Failure to thrive, Stage 5 chronic kidney dise... OMIM:266920
Follicular Lymphoma
Weight loss ORPHA:545
Brucellosis
Failure to thrive, Intrarenal abscess, Weight loss, Glomerulonephritis, Increased circulating IgG... ORPHA:1304
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Weight loss ORPHA:60025
Polymyositis
Abnormal renal tubule morphology, Weight loss ORPHA:732
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Weight loss, Obesity, Urinary retention ORPHA:79102
Gaucher Disease
Death in infancy, Increased circulating antibody level, Hematuria, Proteinuria, Polyclonal elevat... ORPHA:355
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... OMIM:616580
Primary Sjögren Syndrome
Renal insufficiency, Increased circulating antibody level, Glomerulonephritis, Abnormality of the... ORPHA:289390
Huntington Disease-Like 1
Weight loss ORPHA:157941
Leishmaniasis
Weight loss, Increased circulating antibody level ORPHA:507
Trisomy 18
Intrauterine growth retardation, Hydronephrosis, Abnormality of the upper urinary tract, Cachexia... ORPHA:3380
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Intrauterine growth retardation, Weight loss, Increased circulating antibody ... OMIM:615846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hypernatriuria, Failure to thrive, Weight loss, Urogenital sinus anomaly, Short statu... ORPHA:90794
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Weight loss ORPHA:391
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Pfapa Syndrome
Weight loss ORPHA:42642
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Decreased circulat... ORPHA:90362
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Primary Sclerosing Cholangitis
Weight loss, Renal insufficiency, Polyclonal elevation of IgM ORPHA:171
Addison Disease
Failure to thrive, Decreased urinary potassium, Weight loss, Delayed puberty, Renal salt wasting ORPHA:85138
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Severe failure to thrive, Intrauterine growth retardation, Cachexia ORPHA:371364
Celiac Disease, Susceptibility To, 1
Failure to thrive, Postnatal growth retardation, Decreased circulating IgA level, Weight loss, De... OMIM:212750
Williams Syndrome
Death in early adulthood, Failure to thrive in infancy, Obesity, Renal insufficiency, Renal dupli... ORPHA:904
Townes-Brocks Syndrome
Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c... ORPHA:857
Takayasu Arteritis
Weight loss ORPHA:3287
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG level, Abnormality of t... ORPHA:228123
Microsporidiosis
Nephritis, Urethritis, Abnormality of the urinary system physiology, Cachexia, Weight loss ORPHA:2552
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Cranioectodermal Dysplasia 2
Short stature, Renal cyst, Rhizomelia, Renal insufficiency OMIM:613610
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa... OMIM:194050
Perry Syndrome
Weight loss ORPHA:178509
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Vesicoureteral ... ORPHA:199
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Weight loss ORPHA:3226
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Behçet Disease
Glomerulopathy, Weight loss, Renal insufficiency ORPHA:117
Cranioectodermal Dysplasia 1
Chronic kidney disease, Rhizomelia, Renal magnesium wasting, Stage 1 chronic kidney disease, Stag... OMIM:218330
Focal Myositis
Weight loss ORPHA:48918
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Death in infancy, Nephrolithiasis, ... ORPHA:800
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Weight loss, Abnormal mast cell morphology ORPHA:98850
Graves Disease
Weight loss OMIM:275000
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Abnormality of T cell physiology, Weight loss, Increased circulating antibody level OMIM:181000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Gm1 Gangliosidosis
Short stature, Weight loss, Failure to thrive ORPHA:354
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Proportionate short stature ORPHA:171876
Kaposi Sarcoma
Weight loss ORPHA:33276
Secondary Short Bowel Syndrome
Weight loss, Growth delay, Failure to thrive ORPHA:95427
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss ORPHA:913
Digeorge Syndrome
Unilateral renal agenesis, Impaired T cell function, Obesity, Renal insufficiency, Hydronephrosis... OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Tubulointerstitia... ORPHA:79078
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Cachexia, Pollakisuria, Short stature ORPHA:647
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis OMIM:249100
Chronic Beryllium Disease
Weight loss ORPHA:133
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Thymic Carcinoma
Weight loss ORPHA:99868
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Vesicoureteral reflux,... OMIM:107480
Sarcoidosis
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Weight loss, Tubulointers... ORPHA:797
Yellow Fever
Acute kidney injury, Increased circulating IgM level, Renal insufficiency, Anuria ORPHA:99829
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Crimean-Congo Hemorrhagic Fever
Hematuria, Proteinuria, Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Obesity, Vesicoureteral reflux, Hydronephrosis, Childho... ORPHA:110
Osteosarcoma
Weight loss ORPHA:668
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Zygomycosis
Nephritis, Renal insufficiency ORPHA:73263
Pneumocystosis
Weight loss, Increased circulating antibody level ORPHA:723
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Costello Syndrome
Short stature, Renal insufficiency, Failure to thrive OMIM:218040
Malignant Atrophic Papulosis
Weight loss, Abnormality of the lower urinary tract ORPHA:679
Listeriosis
Acute kidney injury, Pyelonephritis, Miscarriage ORPHA:533
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Stag... ORPHA:2044
Wolman Disease
Cachexia, Growth delay ORPHA:75233
Cap Polyposis
Weight loss ORPHA:160148
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Medullary nephrocalcin... OMIM:619534
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Bullous Pemphigoid
Weight loss ORPHA:703
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria ORPHA:466677
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Chronic Graft Versus Host Disease
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis ORPHA:99921
Loeffler Endocarditis
Weight loss ORPHA:75566
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Perry Syndrome
Weight loss OMIM:168605
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Weight loss, Nephrolithiasis ORPHA:652
Congenital Tufting Enteropathy
Weight loss, Failure to thrive ORPHA:92050
Marburg Hemorrhagic Fever
Renal insufficiency, Increased circulating antibody level ORPHA:99826
Camurati-Engelmann Disease
Slender build, Cachexia, Delayed puberty, Urinary retention ORPHA:1328
Acrodermatitis Enteropathica
Short stature, Weight loss, Failure to thrive ORPHA:37
African Trypanosomiasis
Urinary incontinence, Weight loss, Renal insufficiency, Miscarriage ORPHA:3385
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Death in early adulthood, Weight loss OMIM:603041
Oromandibular Dystonia
Weight loss ORPHA:93958
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Ménétrier Disease
Weight loss ORPHA:2494
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Refractory Celiac Disease
Weight loss ORPHA:398063
Rett Syndrome
Short stature, Cachexia OMIM:312750
Poems Syndrome
Weight loss, Increased circulating antibody level ORPHA:2905
Lynch Syndrome
Renal neoplasm, Death in early adulthood, Weight loss, Death in infancy ORPHA:144
Primary Myelofibrosis
Cachexia ORPHA:824
Rheumatoid Arthritis
Weight loss OMIM:180300
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Reactive Arthritis
Weight loss, Recurrent urinary tract infections ORPHA:29207
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Abnormal mast cell morphology ORPHA:98849
Sotos Syndrome
Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P... ORPHA:821
Pmm2-Cdg
Failure to thrive, Proteinuria, Impaired neutrophil chemotaxis, Abnormal renal tubule morphology,... ORPHA:79318
Late-Onset Isolated Acth Deficiency
Weight loss, Failure to thrive ORPHA:199299
Leptospirosis
Acute kidney injury, Cellular urinary casts ORPHA:509
Mucolipidosis Type Ii
Short stature, Postnatal growth retardation, Weight loss ORPHA:576
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Pemphigus Vulgaris
Weight loss ORPHA:704
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Budd-Chiari Syndrome
Weight loss ORPHA:131
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Whipple Disease
Cachexia ORPHA:3452
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Familial Thrombocytosis
Weight loss, Miscarriage ORPHA:71493
Immunodeficiency 31C
Short stature, Weight loss, Delayed puberty, Growth delay OMIM:614162
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ... ORPHA:99889
Eisenmenger Syndrome
Renal insufficiency ORPHA:97214
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acute Liver Failure
Acute kidney injury ORPHA:90062
Blau Syndrome
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma ORPHA:90340
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Growth delay ORPHA:642
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Seckel Syndrome
Short stature, Intrauterine growth retardation, Cachexia ORPHA:808
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Mild postnatal growth retardation ORPHA:85408
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Polycythemia Vera
Weight loss ORPHA:729
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Proteus Syndrome
Long penis, Renal cyst, Cachexia, Gray matter heterotopia, Enlarged kidney ORPHA:744
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Klatskin Tumor
Weight loss ORPHA:99978
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Growth delay ORPHA:309031
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Tsh-Secreting Pituitary Adenoma
Weight loss, Delayed puberty ORPHA:91347
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur... ORPHA:64
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive ORPHA:2020
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Rat-Bite Fever
Weight loss ORPHA:31205
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Weight loss, Decreased circulating total IgG, Decreased circulat... OMIM:619381
Ppoma
Weight loss ORPHA:97278
Somatostatinoma
Weight loss ORPHA:97283
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Pancreatoblastoma
Weight loss ORPHA:677
Glucagonoma
Weight loss ORPHA:97280
Hutchinson-Gilford Progeria Syndrome
Delayed menarche, Severe failure to thrive, Weight loss ORPHA:740
Tropical Pancreatitis
Weight loss ORPHA:103918
Malt Lymphoma
Weight loss ORPHA:52417
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Delayed puberty, Growth delay ORPHA:2072
Dermatomyositis
Weight loss ORPHA:221
Nocardiosis
Weight loss ORPHA:31204
Stickler Syndrome
Short stature, Slender build, Cachexia ORPHA:828
Choreoacanthocytosis
Weight loss ORPHA:2388
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Norrie Disease
Cachexia, Delayed puberty, Failure to thrive ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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.

Phenotype Allele Zygosity Sex Life Stage
Heart - MPATH diagnostic term hypertrophic tissue Actn4tm1a(EUCOMM)Wtsi HET Early adult
Heart - hyperplasia Actn4tm1a(EUCOMM)Wtsi HET Early adult

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 Actn4.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Stiffening of Circumferential F-Actin Bands Correlates With Regenerative Failure and May Act as a Biomechanical Brake in the Mammalian Inner Ear. Frontiers in cellular neuroscience (May 2022) Actn4tm1a(EUCOMM)Wtsi PMC9114303
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Actn4tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Actn4tm1a(EUCOMM)Wtsi Actn4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Actn4tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Actn4tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Actn4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Actn4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter