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Gene: Cd151 MGI:1096360

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CD151 antigen
Synonyms:
SFA-1,  Tspan24,  PETA-3

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cd151 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 Cd151 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057

The table below shows human diseases predicted to be associated to Cd151 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
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 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
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
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndro... OMIM:600995
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 8
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Stage 5 chronic kid... OMIM:615244
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
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
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Generalized edema, Stage 5 chronic kidney disease, Podocy... OMIM:619155
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea... OMIM:603278
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... OMIM:256300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617575
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... ORPHA:567544
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... OMIM:617006
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Decreased body weight OMIM:618347
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity OMIM:616629
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst OMIM:617056
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Failure to thrive, Enterocolitis, Nephrotic syndrome, Mild pr... OMIM:301108
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:2613
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei... ORPHA:93126
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar... OMIM:603860
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
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
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie... OMIM:615993
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Oligohydramnios, Renal insufficiency, Abnormal renal t... ORPHA:1909
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... ORPHA:85450
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Preeclampsia/Eclampsia 1
Proteinuria, Edema OMIM:189800
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... OMIM:602522
Galloway-Mowat Syndrome 3
Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glom... OMIM:617729
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephrosialidosis
Nephropathy, Ascites, Renal insufficiency, Pericardial effusion, Nephrotic syndrome OMIM:256150
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N... OMIM:607426
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Anasarca, Renal insufficiency, Pleural effusion,... OMIM:254900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
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
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... OMIM:105200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Failure to thrive OMIM:232500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Albuminuria OMIM:230400
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Edema OMIM:614652
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Chilblains, Intestinal inflammation, Proteinuria, Membranoproliferative glomer... OMIM:619858
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Increased inflammatory re... ORPHA:183
Nephronophthisis
Renal insufficiency ORPHA:655
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Pancreatitis, Tubuloin... OMIM:251000
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis... OMIM:251300
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy... OMIM:619487
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu... OMIM:263200
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Failure to thr... ORPHA:37042
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th... ORPHA:1830
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi... ORPHA:340
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Sterile pyuria, Beta 2-mi... ORPHA:91500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Skin rash, Proteinuria, Glomerular sclerosis ORPHA:247691
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Lead Poisoning
Chronic kidney disease, Skin rash, Renal tubular dysfunction, Oligozoospermia, Tubulointerstitial... ORPHA:330015
Xanthinuria, Type Ii
Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis OMIM:603592
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:242900
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Failure to thrive OMIM:613861
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:270150
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Failure to thrive, Oroticaciduria, Decreased g... ORPHA:470
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo... ORPHA:90291
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Proteinuria, Nephrotic syndro... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Failure to thrive... OMIM:613404
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:971
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time, Skin rash ORPHA:1059
Al Amyloidosis
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Weight loss, Abnormality o... ORPHA:85443
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
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
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri... ORPHA:411536
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Renal insufficiency,... OMIM:276700
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Anasarca, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Gout, Renal tubular acidosis, Pr... ORPHA:358
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu... OMIM:162000
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... OMIM:601399
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerati... ORPHA:79259
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microc... OMIM:214100
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Diffuse Neonatal Hemangiomatosis
Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Polyhydramnios, Hydrops fet... ORPHA:2123
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, Co... ORPHA:90068
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Preeclampsia
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the... ORPHA:275555
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Failure to thrive, Renal insufficiency, Membranoproliferative glomerulonephr... OMIM:619644
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive ORPHA:28
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight ORPHA:1672
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency ORPHA:454
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral meatus ORPHA:2377
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... OMIM:618061
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity, Periodontitis OMIM:619269
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... ORPHA:182050
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Attrv30M Amyloidosis
Nephropathy, Weight loss, Abnormal renal physiology ORPHA:85447
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec... ORPHA:3467
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Oligohydramnios, Increased nuchal transl... OMIM:608022
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr... ORPHA:1851
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur... ORPHA:79233
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Small for gestational age OMIM:215250
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... OMIM:607944
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi... ORPHA:411543
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Caspase 8 Deficiency
Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decreased circul... OMIM:607271
Malaria
Acute kidney injury ORPHA:673
Lesch-Nyhan Syndrome
Hematuria, Gout, Renal insufficiency ORPHA:510
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Proteinuria, Synovi... ORPHA:77297
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Polyhydramnios OMIM:314390
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm... ORPHA:99885
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Oligohydramnios, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne... ORPHA:289390
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Failure to thrive, Abnormality of the kidney ORPHA:369
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome, Failure to thrive in infancy ORPHA:834
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss ORPHA:35710
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Leukocytosis, Splenomegaly, Abnormal ... ORPHA:3318
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s... OMIM:617321
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight ... ORPHA:91139
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis OMIM:300323
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Pancreatitis, Renal insufficiency, Lacticaciduria OMIM:619386
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Liddle Syndrome
Nephropathy, Renal insufficiency ORPHA:526
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal insufficiency, Uret... ORPHA:49041
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Obesity, Renal insufficiency, Otitis media, Truncal obesity, Chro... OMIM:203800
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Oligohydramnios, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain d... OMIM:608836
Neuraminidase Deficiency
Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-link... OMIM:256550
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Failure to thrive ORPHA:320
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Oligohydr... ORPHA:411709
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti... ORPHA:91138
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... ORPHA:105
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... OMIM:219730
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Protein... ORPHA:550
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Failure to thrive, Renal tubular acidosis, 3-Methylglutaconic aciduria ORPHA:324525
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome, Lymphedema ORPHA:69061
Muckle-Wells Syndrome
Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Conjunctivitis, Maculopapu... OMIM:191900
Central Diabetes Insipidus
Weight loss, Failure to thrive, Nocturia ORPHA:178029
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Oligohydramnios, Splenomega... OMIM:208540
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne ORPHA:69126
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... ORPHA:213
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca... ORPHA:188
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... ORPHA:223
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal s... OMIM:613845
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary... OMIM:118450
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ... ORPHA:36412
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Lymphedema, Renal insufficiency, Abnormal renal glomerulus morphology, No... OMIM:137940
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur... OMIM:615559
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin... ORPHA:79101
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Renal insufficiency, Failure to thrive ORPHA:79312
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
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
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome ORPHA:330001
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Nephrotic syn... OMIM:618999
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Cardiomegaly, Pericardial... OMIM:261740
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T... ORPHA:227990
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome... ORPHA:2035
Wiskott-Aldrich Syndrome
Gingival bleeding, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hy... OMIM:301000
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Acrocephalopolydactylous Dysplasia
Ascites, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Obesity, Nephronophthisis OMIM:615630
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Multiple renal cysts, Pericardial effusion, E... ORPHA:464329
Babesiosis
Renal insufficiency ORPHA:108
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Lacticaciduria, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato... ORPHA:227982
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... ORPHA:93552
Sarcoidosis
Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Keratoconjunct... ORPHA:797
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Ddost-Cdg
Nephrotic range proteinuria, Failure to thrive ORPHA:300536
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Rhabdoid Tumor
Hematuria, Weight loss, Renal neoplasm ORPHA:69077
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M... ORPHA:99845
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Recurrent otitis media, Membranoproliferative glomerulon... OMIM:619525
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Lymphadenitis OMIM:618886
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E... ORPHA:94080
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... OMIM:256700
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Truncal obesity OMIM:615986
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria ORPHA:71273
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Renal insufficiency, Mild proteinuria, Failure to thrive OMIM:619147
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Lymphedema OMIM:247410
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Renal Hypodysplasia/Aplasia 1
Proteinuria, Oligohydramnios, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Igg4-Related Aortitis
Hydronephrosis, Increased inflammatory response, Weight loss ORPHA:449400
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Thymoma
Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Heme Oxygenase 1 Deficiency
Hematuria, Nephritis, Proteinuria OMIM:614034
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Nephroblastoma
Hematuria, Weight loss, Nephroblastoma ORPHA:654
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Severe Acute Respiratory Syndrome
Acute kidney injury, Acute infectious pneumonia ORPHA:140896
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Failure to thrive, Aspiration pneumonia, Stage 5 ... ORPHA:1018
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Microscopic Polyangiitis
Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator... ORPHA:727
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration OMIM:602199
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Legionnaires Disease
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Pancreatitis, My... ORPHA:549
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Oligohydramnios, Renal insufficiency, Renal hypoplasia... ORPHA:261265
Systemic Lupus Erythematosus
Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Arthritis, ... ORPHA:536
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:27
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Keratoconjunctivitis sicca, Weight loss, Tubulointerstitial nephritis, Thyroiditis ORPHA:79078
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Ascites, Hepatosplenomegaly, R... ORPHA:731
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Vesicoureteral reflux ORPHA:3208
H Syndrome
Upper eyelid edema, Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney ORPHA:168569
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Organic aciduria, Keratoconjunctivitis, Weight loss ORPHA:79242
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Polyhydramnios, Hypospadias, Enlarged kidney OMIM:612651
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Stage 1 chronic kidney disease OMIM:618821
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure to thrive, Hy... OMIM:227810
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis ORPHA:314652
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Pro... ORPHA:48435
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula ORPHA:2728
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Renal insuffi... ORPHA:36234
Scrub Typhus
Renal insufficiency, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Fabry Disease
Lipiduria, Lymphedema, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Urinary mu... OMIM:301500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Methylmalonic aciduria ORPHA:1933
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Proteinuria, Increased body weight, Renal Fanconi syndrome ORPHA:263455
Cystic Echinococcosis
Renal cyst, Weight loss, Membranous nephropathy ORPHA:400
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Bardet-Biedl Syndrome 17
Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria OMIM:619127
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Lymphedema ORPHA:1563
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Boutonneuse Fever
Maculopapular exanthema, Renal insufficiency, Skin rash ORPHA:83313
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Xfe Progeroid Syndrome
Proteinuria, Cachexia, Renal insufficiency, Failure to thrive OMIM:610965
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Failure to thrive, Failure to thrive in inf... OMIM:219800
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Weight loss, Failure to thrive OMIM:619377
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Macular edema, Edema OMIM:192315
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Hydronep... ORPHA:900
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias,... OMIM:300661
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria ORPHA:95626
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst OMIM:208500
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Failu... OMIM:277400
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritonitis, Pancrea... ORPHA:342
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis OMIM:249210
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... ORPHA:556
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl... ORPHA:761
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Gastritis, Decreased urine output, Ren... ORPHA:31826
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Ohdo Syndrome
Proteinuria OMIM:249620
Helix Syndrome
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis OMIM:617671
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Polyhydramnios, Edema OMIM:607598
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis OMIM:217090
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive OMIM:608091
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Failure to thrive, Proteinuria, Renal cyst, Nephrotic syndrome, Pericarditis OMIM:212065
Castleman Disease
Hematuria, Ureteral obstruction, Weight loss, Renal insufficiency ORPHA:160
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Renal insufficiency, Pleural effusion, Splenomegaly, Hepat... ORPHA:457077
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome OMIM:301110
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Alg9-Cdg
Hypoplasia of the bladder, Oligohydramnios, Abnormal renal artery morphology, Hydronephrosis, Hep... ORPHA:79328
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Pyomyositis
Myositis, Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation ORPHA:764
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... ORPHA:411629
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Generalized Pustular Psoriasis
Obesity, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheiliti... ORPHA:247353
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Proteinuria, Weight loss, Arthritis, Arthralgia/a... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ... OMIM:611209
Meningococcal Meningitis
Renal insufficiency, Skin rash, Infectious encephalitis ORPHA:33475
Pseudo-Torch Syndrome 1
Renal insufficiency, Failure to thrive OMIM:251290
Joubert Syndrome 9
Stage 5 chronic kidney disease OMIM:612285
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Renal insufficiency, Hepatitis ORPHA:440713
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Hellp Syndrome
Generalized edema, Acute kidney injury, Pleural effusion, Proteinuria, Pulmonary edema, Hemoglobi... ORPHA:244242
Kleefstra Syndrome
Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypo... ORPHA:261494
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis ORPHA:96147
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... ORPHA:728
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... OMIM:203300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Oligozoospermia, Renal dysplasia OMIM:314300
Martin-Probst Syndrome
Proteinuria, Chordee, Renal insufficiency, Micropenis OMIM:300519
Erdheim-Chester Disease
Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria ORPHA:35687
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis, Weight loss, Failure to thrive ORPHA:35858
Renpenning Syndrome
Cachexia, Hypospadias ORPHA:3242
Fatal Familial Insomnia
Weight loss, Urinary retention OMIM:600072
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Palpebral edema, Enlarged kidney OMIM:252500
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria, Gout OMIM:232800
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Skin rash, Splenomegaly, Purpura, Prol... ORPHA:809
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney ORPHA:140952
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Wagro Syndrome
Proteinuria, Obesity, Nephroblastoma OMIM:612469
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recurrent a... ORPHA:397715
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypospadias, Renal dysplasia, Renal insufficiency ORPHA:96179
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease OMIM:613819
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven... ORPHA:1855
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria ORPHA:42
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Small for gestational age, Failure to thrive OMIM:609015
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Failure to thrive, Mitochondrial swelling, Lacticaciduria OMIM:618250
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Refsum Disease
Renal insufficiency ORPHA:773
Snakebite Envenomation
Acute kidney injury, Edema, Angioedema ORPHA:449285
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Arthritis ORPHA:220393
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria ORPHA:36426
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Sifrim-Hitz-Weiss Syndrome
Micropenis, Vesicoureteral reflux, Renal insufficiency OMIM:617159
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Wolcott-Rallison Syndrome
Chronic kidney disease, Renal insufficiency, Decreased body weight ORPHA:1667
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria ORPHA:537
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney disease, Oligohydramnios... OMIM:267010
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Agel Amyloidosis
Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Edema ORPHA:85448
Relapsing Fever
Hematuria, Acute kidney injury, Abnormality of the urinary system ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Cockayne Syndrome Type 1
Failure to thrive, Renal insufficiency, Proteinuria, Conjunctivitis, Uveitis ORPHA:90321
Ogden Syndrome
Lymphedema, Oligohydramnios, Pulmonary edema, Cardiomegaly, Global glomerulosclerosis, Polycystic... OMIM:300855
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr... ORPHA:2552
Bardet-Biedl Syndrome 20
Proteinuria, Obesity, Pancreatitis, Micropenis OMIM:619471
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Polyhydramnios, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Giant Cell Arteritis
Renal insufficiency, Hematuria, Weight loss, Arthritis, Pericarditis ORPHA:397
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Glycosuria, Abnormality of body weight, Skin rash, Decreased body weight, P... ORPHA:2298
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... OMIM:122470
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Weight loss, Increased body w... ORPHA:1501
Shigellosis
Pneumonia, Acute kidney injury, Uveitis, Ulcerative colitis, Urethritis, Failure to thrive in inf... ORPHA:810
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... ORPHA:322
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ... ORPHA:96148
Familial Glucocorticoid Deficiency
Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Azoospermia, Weight loss, ... ORPHA:361
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i... ORPHA:293173
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Uremic Pruritus
Chronic kidney disease, Stage 5 chronic kidney disease, Recurrent skin infections, Inflammatory a... ORPHA:94059
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Necrotizing enterocolitis, Dicarboxylic aciduria OMIM:201475
Acute Promyelocytic Leukemia
Hematuria, Weight loss, Stomatitis ORPHA:520
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Small for gestational age, Failure to thrive, Intrarena... ORPHA:1304
Neuroblastoma
Weight loss, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated... ORPHA:635
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Acute kidney injury, Decreased urine output, Skin rash ORPHA:542323
Huntington Disease-Like 2
Weight loss ORPHA:98934
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Abnormality of the kidney ORPHA:1764
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis ORPHA:330021
Solitary Fibrous Tumor
Weight loss, Urinary retention ORPHA:2126
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Alveolar Echinococcosis
Cutaneous abscess, Abnormal bladder morphology, Renal cyst, Weight loss, Cholangitis ORPHA:284
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease OMIM:614378
Caroli Disease
Cholangitis, Weight loss, Polycystic kidney dysplasia ORPHA:53035
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Periodontitis, Oligosacchariduria, Failure to thrive, Azoospermi... ORPHA:534
Multiple Myeloma
Nephropathy, Acute kidney injury, Weight loss, Nephrotic syndrome, Abnormality of the bladder ORPHA:29073
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease OMIM:620366
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Fabry Disease
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... ORPHA:324
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Failure to thrive, Dicarboxylic aciduria ORPHA:71212
Acquired Purpura Fulminans
Macular purpura, Skin rash, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, In... ORPHA:49566
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis ORPHA:454836
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Micropenis, Patent urachus, Pericardial effusion, Enlarged kidney OMIM:618280
Acquired Generalized Lipodystrophy
Proteinuria, Panniculitis, Acute pancreatitis ORPHA:79086
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Sickle Cell Disease
Hematuria, Renal insufficiency OMIM:603903
19Q13.11 Microdeletion Syndrome
Cachexia, Hypospadias, Failure to thrive ORPHA:217346
Wilson Disease
Aminoaciduria, Glycosuria, Edema, Ascites, Hyperphosphaturia, Renal tubular dysfunction, Nephroli... OMIM:277900
Acute Adrenal Insufficiency
Failure to thrive, Renal insufficiency, Decreased urinary potassium, Weight loss, Renal salt wasting ORPHA:95409
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Behçet Disease
Recurrent aphthous stomatitis, Renal insufficiency, Infectious encephalitis, Increased inflammato... ORPHA:117
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Waldenström Macroglobulinemia
Renal insufficiency, Pleural effusion, Splenomegaly, Hepatomegaly, Periorbital edema, Pedal edema ORPHA:33226
Lujo Hemorrhagic Fever
Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Rhinitis, Fulmina... ORPHA:319213
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Myoglobinuria, Renal tubular acidosis, Failure to thrive ORPHA:264580
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency OMIM:226980
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis OMIM:194380
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Myoglobinuria, Renal tubular acidosis ORPHA:79240
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Failure to thrive, Renal insufficiency, Glomerulopathy, Stomat... ORPHA:79282
Silver-Russell Syndrome
Abnormality of the urinary system, Failure to thrive in infancy, Obesity, Cachexia, Hypospadias ORPHA:813
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria, Small for gestational age ORPHA:699
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Chronic otitis media ORPHA:2750
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Hypospadias ORPHA:251071
Hereditary Fructose Intolerance
Chronic kidney disease, Renal insufficiency ORPHA:469
Beta-Ketothiolase Deficiency
Weight loss, Ketonuria ORPHA:134
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, Hematuria, Weight lo... ORPHA:781
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma... ORPHA:805
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Arteriosclerosis, Severe Juvenile
Chronic kidney disease OMIM:208060
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Peritonitis, Pancreatitis, Hemoglobinuria, Acute colitis ORPHA:90038
Neuroleptic Malignant Syndrome
Acute kidney injury, Aspiration pneumonia, Proteinuria, Myoglobinuria, Urinary incontinence ORPHA:94093
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria ORPHA:25
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Organic aciduria OMIM:301310
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art... ORPHA:3261
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Malar rash, Renal insufficiency, Proteinuria, Cachex... ORPHA:191
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Aspiration pneumonia ORPHA:173
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Decreased body weight, Enterocolitis, Small for gestational age ORPHA:90051
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Porphyria Cutanea Tarda
Cutaneous abscess, Stage 5 chronic kidney disease, Increased urinary porphobilinogen, Porphyrinur... ORPHA:101330
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Gaucher Disease Type 3
Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Pericardial effusion, Hydrops fetalis ORPHA:77261
Hereditary Late-Onset Parkinson Disease
Weight loss, Spastic/hyperactive bladder ORPHA:411602
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
Hermansky-Pudlak Syndrome
Weight loss, Renal insufficiency ORPHA:79430
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Obesity ORPHA:85293
Colchicine Poisoning
Myocarditis, Oliguria, Renal insufficiency ORPHA:31824
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Weight loss, Bronchiectasis ORPHA:60025
Cockayne Syndrome B
Failure to thrive, Renal insufficiency, Proteinuria, Severe failure to thrive, Micropenis, Small ... OMIM:133540
Chronic Hiccup
Weight loss ORPHA:396
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Reticular Dysgenesis
Chronic otitis media, Weight loss, Skin rash, Failure to thrive ORPHA:33355
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas... OMIM:309000
Serotonin Syndrome
Acute kidney injury ORPHA:43116
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Weight loss, Ketonuria, Acute pancreatitis ORPHA:20
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Liposarcoma
Weight loss, Abnormality of the kidney ORPHA:69078
Polyarteritis Nodosa
Weight loss, Abnormality of the kidney, Pericarditis ORPHA:767
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Isaacs Syndrome
Weight loss ORPHA:84142
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... OMIM:616580
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Weight loss, Hypospadias OMIM:613673
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit... ORPHA:73263
Coccidioidomycosis
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Renal insufficiency, Panniculitis, Ski... ORPHA:228123
Riddle Syndrome
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sin... ORPHA:420741
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Decreased urine output, Pancr... ORPHA:544482
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease ORPHA:2752
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Cockayne Syndrome A
Micropenis, Proteinuria, Renal insufficiency, Failure to thrive OMIM:216400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton... OMIM:249100
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Reduced... OMIM:266920
Felty Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Episcleritis, Synovitis, Weight loss, Ar... ORPHA:47612
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc... ORPHA:64743
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Weight loss, Arthrit... ORPHA:47
Huntington Disease-Like 2
Weight loss OMIM:606438
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis OMIM:619351
Glycogen Storage Disease Xii
Hemoglobinuria, Cholecystitis OMIM:611881
Polymyositis
Abnormal renal tubule morphology, Weight loss, Arthritis, Pericarditis ORPHA:732
Proteus Syndrome
Long penis, Lymphedema, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney ORPHA:744
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Weight loss, ... OMIM:615846
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Failure to thrive, Oroticaciduria, Stage 5 chronic kidney disease,... OMIM:222700
Holoprosencephaly
Proteinuria, Failure to thrive in infancy, Hypoplasia of penis, Abnormality of the urinary system ORPHA:2162
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Juvenile Huntington Disease
Weight loss ORPHA:248111
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Cachexia, Weight loss,... ORPHA:275761
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kawasaki Disease
Hepatitis, Sterile pyuria, Skin rash, Cholecystitis, Proteinuria, Arthritis, Myocarditis, Conjunc... ORPHA:2331
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Azoospermia, ... ORPHA:84
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Weight loss, Obesity, Urinary retention ORPHA:79102
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia ORPHA:3380
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio... ORPHA:533
Primary Sclerosing Cholangitis
Hepatitis, Renal insufficiency, Weight loss, Pancreatitis, Ulcerative colitis, Thyroiditis, Uveitis ORPHA:171
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Mulibrey Nanism
Cachexia ORPHA:2576
Igg4-Related Submandibular Gland Disease
Facial edema, Xerostomia, Renal insufficiency, Abnormality of the kidney, Periorbital edema ORPHA:449432
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,... OMIM:266600
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Weight loss, Salmonella osteomyelitis OMIM:209950
Pfapa Syndrome
Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Cranioectodermal Dysplasia 2
Renal cyst, Recurrent pneumonia, Cholangitis, Renal insufficiency OMIM:613610
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Moynahan Syndrome
Cachexia ORPHA:2574
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Weight loss, Arthritis ORPHA:3287
Mandibuloacral Dysplasia With Type B Lipodystrophy
Stage 5 chronic kidney disease OMIM:608612
Aymé-Gripp Syndrome
Proteinuria, Pericarditis ORPHA:1272
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Edema, Hydronephrosis, Polycystic kidney dysplasia, Pedal edema OMIM:236700
Townes-Brocks Syndrome
Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c... ORPHA:857
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, F... OMIM:194050
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... OMIM:603553
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa... ORPHA:904
Pleural Mesothelioma
Weight loss ORPHA:50251
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Vesicoureteral reflux,... OMIM:107480
Addison Disease
Failure to thrive, Hashimoto thyroiditis, Decreased urinary potassium, Weight loss, Renal salt wa... ORPHA:85138
Allergic Bronchopulmonary Aspergillosis
Weight loss, Bronchiectasis ORPHA:1164
Mcdonough Syndrome
Cachexia ORPHA:2471
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Obesity, Renal insufficie... OMIM:188400
Follicular Lymphoma
Weight loss ORPHA:545
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive ORPHA:1842
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Hypernatriuria, Failure to thrive, Weight loss, Urogenital sinus anomaly, Renal salt ... ORPHA:90794
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney, Obesity, Vesicoure... ORPHA:110
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss ORPHA:26790
Eosinophilic Fasciitis
Myositis, Weight loss, Arthritis, Fasciitis ORPHA:3165
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Phimosis, Hematuria, Keratoconjunctivitis sicca, Weight ... ORPHA:99921
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Abnormality of the urinary system ORPHA:702
Degcags Syndrome
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... OMIM:619488
Focal Myositis
Myositis, Weight loss ORPHA:48918
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Nephrolithia... ORPHA:800
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormality of the kidney ORPHA:54251
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal insufficiency, Trun... ORPHA:199
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis ORPHA:449427
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Classic Hodgkin Lymphoma
Weight loss, Skin rash ORPHA:391
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Esophagitis, Weight loss ORPHA:913
Crimean-Congo Hemorrhagic Fever
Parotitis, Morbilliform rash, Cholecystitis, Orchitis, Hematuria, Proteinuria, Erythema nodosum, ... ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Hypercalciuria, Weight loss, Arthritis, Bronc... OMIM:181000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Wilson Disease
Hepatitis, Failure to thrive, Increased body weight, Weight loss, Arthritis, Acute hepatitis ORPHA:905
Yellow Fever
Acute kidney injury, Anuria, Renal insufficiency, Skin rash, Acute pancreatitis ORPHA:99829
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Mast Cell Sarcoma
Weight loss ORPHA:66661
Kaposi Sarcoma
Weight loss, Skin rash ORPHA:33276
Idiopathic Bronchiectasis
Acute infectious pneumonia, Cachexia, Bronchiectasis ORPHA:60033
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Pancreatitis ORPHA:65682
Gaucher Disease
Hepatitis, Osteomyelitis, Hematuria, Proteinuria, Osteoarthritis ORPHA:355
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Myocarditis, Acute pancreatitis ORPHA:466677
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Chronic Beryllium Disease
Weight loss, Lymphocytic interstitial pneumonia ORPHA:133
Marburg Hemorrhagic Fever
Uveitis, Renal insufficiency, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthe... ORPHA:99826
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Failure to thrive in infancy, Osteomyelitis, Pustule, Weight loss ORPHA:171876
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia... OMIM:212750
Perry Syndrome
Weight loss ORPHA:178509
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Stage 5 chronic kidney disease, Clear cell renal cell ... ORPHA:90340
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Weight loss, Nephrolithiasis ORPHA:652
Gm1 Gangliosidosis
Infectious encephalitis, Weight loss, Failure to thrive, Aspiration pneumonia ORPHA:354
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Leptospirosis
Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Peric... ORPHA:509
Graves Disease
Weight loss OMIM:275000
African Trypanosomiasis
Myelitis, Keratitis, Renal insufficiency, Optic neuritis, Weight loss, Myocarditis, Urinary incon... ORPHA:3385
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia ORPHA:216866
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Nijmegen Breakage Syndrome
Recurrent pneumonia, Cachexia, Pollakisuria ORPHA:647
Costello Syndrome
Renal insufficiency, Failure to thrive OMIM:218040
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Bronchiectasis ORPHA:411703
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Bronchiectasis ORPHA:79127
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Weight loss ORPHA:2902
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Weight loss ORPHA:2070
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Medullary nephrocalcin... OMIM:619534
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Weight loss, Abnormality of the lower urinary tract ORPHA:679
Secondary Short Bowel Syndrome
Enterocolitis, Weight loss, Failure to thrive ORPHA:95427
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Reactive Arthritis
Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent... ORPHA:29207
Thymic Carcinoma
Weight loss ORPHA:99868
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Tetrasomy 12P
Cachexia ORPHA:884
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Loeffler Endocarditis
Weight loss, Pericarditis ORPHA:75566
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Congenital Tufting Enteropathy
Punctate keratitis, Weight loss, Failure to thrive, Arthritis ORPHA:92050
Camurati-Engelmann Disease
Slender build, Cachexia, Urinary retention ORPHA:1328
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Osteosarcoma
Weight loss ORPHA:668
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Sotos Syndrome
Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P... ORPHA:821
Pneumocystosis
Weight loss, Interstitial pneumonitis, Acute infectious pneumonia, Chronic oral candidiasis ORPHA:723
Eisenmenger Syndrome
Generalized edema, Ascites, Peripheral edema, Renal insufficiency, Hepatomegaly, Pedal edema ORPHA:97214
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Sialuria
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia OMIM:267700
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:616271
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia ORPHA:99901
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Whipple Disease
Infectious encephalitis, Myositis, Cachexia, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Acrodermatitis Enteropathica
Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis ORPHA:37
Pmm2-Cdg
Failure to thrive, Aspiration pneumonia, Proteinuria, Abnormal renal tubule morphology, Multiple ... ORPHA:79318
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Ménétrier Disease
Weight loss, Giant hypertrophic gastritis ORPHA:2494
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss, Arthritis ORPHA:465508
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:367
Acute Liver Failure
Skin rash, Acute kidney injury, Hepatitis ORPHA:90062
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Perry Syndrome
Weight loss OMIM:168605
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Short Syndrome
Weight loss ORPHA:3163
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent aspiration pneumonia ORPHA:642
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Panniculitis, Weight loss ORPHA:33577
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Weight loss, Hepatitis, Failure to thrive ORPHA:199299
Budd-Chiari Syndrome
Peritonitis, Weight loss, Cholecystitis ORPHA:131
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Oromandibular Dystonia
Weight loss ORPHA:93958
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Primary Myelofibrosis
Cachexia ORPHA:824
Granulomatosis With Polyangiitis
Keratitis, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis OMIM:608710
Bronchial Neuroendocrine Tumor
Pneumonia, Weight loss ORPHA:97287
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Recurrent cutaneous fungal infections, W... ORPHA:99889
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Wolman Disease
Cachexia ORPHA:75233
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Pemphigus Vulgaris
Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Pancreatitis ORPHA:370348
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Isolated Biliary Atresia
Pruritus, Splenomegaly, Prolonged prothrombin time ORPHA:30391
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, Weight loss, A... ORPHA:85408
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Weight loss, Acute colitis ORPHA:67
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Functional abnormali... ORPHA:64
Immunodeficiency 31C
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Weight loss, Recurrent v... OMIM:614162
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Juvenile Dermatomyositis
Skin rash, Myositis, Weight loss, Arthritis, Pericarditis ORPHA:93672
Poems Syndrome
Weight loss ORPHA:2905
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encephalitis, S... ORPHA:31204
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Rett Syndrome
Cachexia OMIM:312750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Lynch Syndrome
Renal neoplasm, Weight loss ORPHA:144
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Mucolipidosis Type Ii
Weight loss, Otitis media ORPHA:576
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin rash, Crohn's di... OMIM:619381
Abetalipoproteinemia
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Polycythemia Vera
Weight loss ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Gallbladder Neuroendocrine Tumor
Weight loss, Cholecystitis ORPHA:100086
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Prolonged prothrombin time ORPHA:309854
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Aspiration pneumonia ORPHA:2020
Pancreatic Triacylglycerol Lipase Deficiency
Colitis, Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Klatskin Tumor
Weight loss ORPHA:99978
Dermatomyositis
Heliotrope rash, Skin rash, Myositis, Weight loss, Arthritis, Myocarditis, Pericarditis ORPHA:221
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454
Familial Thrombocytosis
Weight loss ORPHA:71493
Glucagonoma
Weight loss, Stomatitis, Skin rash ORPHA:97280
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Tropical Pancreatitis
Weight loss, Chronic calcifying pancreatitis ORPHA:103918
Kikuchi-Fujimoto Disease
Malar rash, Skin rash, Pustule, Weight loss, Myocarditis ORPHA:50918
Malt Lymphoma
Posterior uveitis, Weight loss ORPHA:52417
Ppoma
Weight loss ORPHA:97278
Seckel Syndrome
Cachexia ORPHA:808
Somatostatinoma
Weight loss ORPHA:97283
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss, Osteoarthritis ORPHA:740
Pancreatoblastoma
Weight loss ORPHA:677
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Azoospermia, Cachexia ORPHA:2072
Choreoacanthocytosis
Weight loss, Arthritis ORPHA:2388
Marfan Syndrome
Slender build, Cachexia, Arthralgia/arthritis ORPHA:558
Stickler Syndrome
Slender build, Cachexia, Osteoarthritis, Chronic otitis media, Uveitis ORPHA:828
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Norrie Disease
Cachexia, 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.

There is no histopathology data for Cd151

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 Cd151.

No publications found that use IMPC mice or data for Cd151.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cd151tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Cd151tm438505(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cd151tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cd151tm438505(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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