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Gene: Gstk1 MGI:1923513

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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:
glutathione S-transferase kappa 1
Synonyms:
0610025I19Rik,  DsbA-L

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 Gstk1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gstk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... OMIM:617006
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Interstitial Cystitis
Abnormal vagina morphology, Urinary bladder inflammation, Urinary urgency, Pollakisuria, Abnormal... ORPHA:37202
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... ORPHA:567544
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Polycystic ovaries, Diabetes mellitus, Membranoproliferative glome... OMIM:608709
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Inflammatory... ORPHA:449395
Malakoplakia
Inflammatory abnormality of the skin, Prostate neoplasm, Urinary bladder inflammation, Urinary ur... ORPHA:556
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Adrenomyodystrophy
Abnormality of the urinary system, Hepatic steatosis, Megacystis, Primary adrenal insufficiency ORPHA:977
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Non-caseatin... OMIM:607665
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Albuminuria, Prem... OMIM:230400
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, He... ORPHA:730
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Acne, Precocious puberty ORPHA:3000
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Pancreatic hypoplasia, Glycosuria, Reduced pancr... ORPHA:99885
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Nephrogenic diabetes insipidus OMIM:125800
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Periodontitis, Type I diabetes mellitus, Precocious puberty OMIM:619269
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, External genital hypoplasia, Hypogonadism, Diabetes mellitus, Cryptorchidis... OMIM:614231
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Prote... OMIM:603278
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... OMIM:618348
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Familial Visceral Myopathy
Abdominal situs inversus, Megacystis, Hyperparathyroidism, Vesicoureteral reflux, Hydroureter ORPHA:2604
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Bile duct proliferation, Recu... OMIM:619525
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney dise... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Portal hypertension, Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephro... ORPHA:85445
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Neutro... OMIM:619644
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity OMIM:616414
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis OMIM:619362
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... OMIM:105200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Neutropenia, Erythroderma, Lymphadenopathy, Coombs-positive hemolytic anemi... OMIM:304790
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter, Cryptorchidism ORPHA:2241
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Hematuri... ORPHA:2035
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Focal segmental glomerulosclerosis, Nephrotic sy... ORPHA:347
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Thyroid hemiagenesis, Ele... ORPHA:209905
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Visceral Myopathy 2
Necrotizing enterocolitis, Megacystis, Esophagitis OMIM:619350
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Megacystis, Pancreatitis, Vesicoureteral reflux OMIM:155310
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglycerid... ORPHA:280365
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... ORPHA:2137
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Renal agenesis, Hypoplastic nipples, Absence of Stensen duct, Urethral stenosis, ... OMIM:604292
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Abnormal ... ORPHA:95455
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... ORPHA:400
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Adrenal insufficiency, Nephrotic syndrome, Stage 5 chronic ki... OMIM:617575
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Proteinuria, Hypertriglyceridemia, Hemolytic anemia, Renal insufficiency OMIM:245900
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... OMIM:232200
Mccune-Albright Syndrome
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Increased circulating cort... ORPHA:562
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hyperlipidemia, Hepatocellular car... OMIM:232220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Frasier Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic k... OMIM:136680
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Normoc... ORPHA:49041
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Preeclampsia
Polycystic ovaries, Acute kidney injury, Abnormality of the hepatic vasculature, Type I diabetes ... ORPHA:275555
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Abnormal renal glomerulus morphology, Membranoproliferative glomerulo... OMIM:137940
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Myositis, Leukemia, Pure red cell aplasia, Ne... ORPHA:99867
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Acquired Partial Lipodystrophy
Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Hydronephrosis, Intrahepatic biliary dysgenesis, Clitoral hypertrophy,... OMIM:214100
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Renal dysplasia, Hepatic... OMIM:208540
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Chronic Graft Versus Host Disease
Keratoconjunctivitis sicca, Abnormal vagina morphology, Urinary bladder inflammation, Bronchiecta... ORPHA:99921
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
H Syndrome
Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Chronic rhinitis, Azoospermia, Delayed ... ORPHA:168569
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Anemia, Type I diabetes mellitus, Nephropathy, Cryptorchidism, Proteinuria ORPHA:1192
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Increased circulating myelocyte count, Infectious encephalitis, Pneumonia... ORPHA:36234
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hyp... ORPHA:91139
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Hepatic fibros... ORPHA:369
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Male pseudohermaphroditism, Proteinuria, Nephroblastoma, Gonadal... ORPHA:220
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular sclerosis, Hypot... OMIM:256300
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Nephrotic syndrome, Anemia, Abnormality of the ... ORPHA:85443
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hematu... OMIM:614034
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Type II diabetes mellitus, Proteinuria, Renal insufficiency ORPHA:225
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Oligospermia, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Systemic Sclerosis
Myocarditis, Pericarditis, Arthritis, Osteomyelitis, Acute kidney injury, Albuminuria, Recurrent ... ORPHA:90291
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis OMIM:134610
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... ORPHA:79259
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle... OMIM:276700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Cednik Syndrome
Hypogonadism, Proteinuria, Nephrotic syndrome ORPHA:66631
Fragile X Syndrome
Sinusitis, Macroorchidism, Otitis media, Chronic otitis media ORPHA:908
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Imerslund-Grasbeck Syndrome 1
Proteinuria, Megaloblastic anemia OMIM:261100
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Pneumonia, Decreased c... ORPHA:90790
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic kidney disease, Diff... OMIM:619609
Lcat Deficiency
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... ORPHA:650
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, ... OMIM:616026
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Sple... ORPHA:91138
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... OMIM:137920
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Hematuria, Arthritis, In... ORPHA:48435
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Adrenocortical carcinoma, Adrenocortical cytomegaly, Pancreat... OMIM:130650
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Recurrent otitis media, Multiple bladder diverticula, Cryptorchidism, Proteinuria ORPHA:2728
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Parotitis, Optic neuritis, Va... ORPHA:289390
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Cholestatic liver disease, Chole... OMIM:610205
Leukocyte Adhesion Deficiency
Sinusitis, Hemolytic-uremic syndrome, Conjunctivitis, Leukocytosis, Polycythemia, Hyperinsulinemi... ORPHA:2968
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification, Lipid accumulation in ... OMIM:608836
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Seborrheic dermatitis, Abnormality of the lymphatic system, Nephrobla... ORPHA:276280
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Chronic mucocutaneous candidiasis, Lympho... OMIM:615816
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... ORPHA:77297
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Adrenal hypoplasia, Hyperechogenic ki... OMIM:612651
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Proteinuria, Nephrotic syndrome, Hypothyro... OMIM:618347
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Rh... ORPHA:79128
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Trisomy 20P
Hypospadias, Macroorchidism, Hydronephrosis, Abnormality of the ureter, Abnormal localization of ... ORPHA:261318
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia,... OMIM:146255
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Azoospermia, Hypogonadotropic hypogo... ORPHA:52901
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialylated oli... OMIM:256550
Ohdo Syndrome
Cryptorchidism, Proteinuria OMIM:249620
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Partington Syndrome
Macroorchidism ORPHA:94083
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Pneumonia, Anuria, Decreased ... ORPHA:340
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Lymphad... ORPHA:93552
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Episcleritis, Lymphadenopathy, Hematuria, Arthritis, Splenomegaly, Uveitis, Inflamm... ORPHA:36412
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... OMIM:301050
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... OMIM:608022
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Enlarge... OMIM:200995
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Macroorchidism, postp... ORPHA:91348
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Hypoparathyroidism,... OMIM:277900
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Pr... OMIM:215250
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hemolytic anemia, Hepatomegaly, Pericarditis, Hepatic fibrosis, Glomerular s... OMIM:619487
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Diabetes mellitu... OMIM:613845
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Heavy proteinuria, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, A... ORPHA:505248
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hematuria, Hep... ORPHA:549
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Renal Agenesis
Renal agenesis, Aplasia/hypoplasia of the uterus, Aplasia/Hypoplasia of the bladder, Absent vas d... ORPHA:411709
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Cystinosis
Portal hypertension, Renal tubular dysfunction, Nephrogenic diabetes insipidus, Type I diabetes m... ORPHA:213
Aapoaiv Amyloidosis
Hyperlipidemia, Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amylo... ORPHA:439232
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... ORPHA:261222
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormality of the urina... ORPHA:79408
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612926
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Anemia, Hypergonadotropic hypogonadism, Pancytopenia, R... OMIM:607426
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Hemat... OMIM:232240
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis ORPHA:73246
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopen... OMIM:618886
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Leukopenia, Anemia, Recurrent urinary tract infections, Lymph... OMIM:617053
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Insulin-resistant diabetes mellitus, Enlarged ovaries, Fastin... ORPHA:2298
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Premature adrenarche, Diabetes mellitus, Bladder di... ORPHA:2976
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Panniculitis, Polycystic ovaries, Cirrhosis, H... ORPHA:79086
Leprechaunism
Hepatomegaly, Central hypothyroidism, Long penis, Nephrocalcinosis, Enlarged ovaries, Labial hype... ORPHA:508
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Cocaine Intoxication
Tubulointerstitial nephritis, Colitis, Hematuria, Acute kidney injury, Glomerulonephritis, Protei... ORPHA:90068
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Nephrotic syndrome, Splenomegaly ORPHA:834
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Renal t... ORPHA:370
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency OMIM:610965
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated... ORPHA:276621
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hepatomegaly, Increased hepatic glycogen content, Hyperinsulinemic hypogl... ORPHA:263455
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, Splenomeg... ORPHA:77259
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblastoma, Polycythemia, E... ORPHA:116
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:157
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Cryptorchidism, Proteinuria, Renal insufficiency ORPHA:1307
Familial Mediterranean Fever
Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Peritonitis, Osteoarthritis,... ORPHA:342
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy, Diabetes mellitus OMIM:209010
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... ORPHA:33001
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Glycogen Storage Disease Vii
Gout, Cholelithiasis, Exercise-induced myoglobinuria, Reticulocytosis, Reduced erythrocyte 2,3-di... OMIM:232800
Goodpasture Syndrome
Macroscopic hematuria, Anemia, Cylindruria, Erythrocyte cylindruria, Glomerulonephritis, Proteinu... OMIM:233450
Renal Hypodysplasia/Aplasia 1
Renal agenesis, Renal dysplasia, Vaginal atresia, Bicornuate uterus, Proteinuria OMIM:191830
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Proteinuria OMIM:603585
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Renal tubular acidosis, Polycysti... ORPHA:264580
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Bicornuate ... OMIM:601186
Alström Syndrome
Oligospermia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Hepatitis, S... ORPHA:64
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated... ORPHA:29072
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Nephrotic syndrome, Hypocholesterolemia, Proximal... OMIM:212065
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Anemia, Incre... OMIM:220110
Denys-Drash Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, True hermaphroditism, Nephrotic syndr... OMIM:194080
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Pneumonia, Normochromic anemia, Glomerular sclerosis, Nodular regenerative hyp... ORPHA:247691
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudoh... OMIM:608978
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Anemia, Glyco... ORPHA:436271
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... ORPHA:183
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Ambiguous genitalia, fem... ORPHA:91
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hepatic cyst... ORPHA:79328
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism, Nephrotic range proteinuria ORPHA:300536
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... ORPHA:79240
Martin-Probst Syndrome
Bifid scrotum, Hypoplastic nipples, Chordee, Micropenis, Hypothyroidism, Pancytopenia, Cryptorchi... OMIM:300519
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Proteinuria ORPHA:2143
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum OMIM:219100
Wild Type Attr Amyloidosis
Hepatomegaly, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Spondyloenchondrodysplasia
Pancytopenia, Pneumonia, Hematuria, Hepatitis, Arthritis, Autoimmune thrombocytopenia, Juvenile r... ORPHA:1855
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Steatorrhea, Diabetes mellitus,... ORPHA:699
Duplication Of Urethra
Hypospadias, Bladder duplication, Bifid scrotum, Uterus didelphys, Micropenis, Rectourethral fist... ORPHA:237
Fabry Disease
Lipiduria, Urinary mulberry cells, Anemia, Left ventricular hypertrophy, Proteinuria, Renal insuf... OMIM:301500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... OMIM:210550
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydronephrosis, Renal agenesis, Hypoplastic nipples, Absence of Stensen duct, Rectovaginal fistul... OMIM:129900
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Micropenis, Bilateral cryptorchidism, Male hypogonadism, Prot... OMIM:619471
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Anemia, Hypothyroidism, Mild proteinuria, Renal insuf... OMIM:619147
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis OMIM:231530
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... ORPHA:358
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Acute kidney injury, Myoglobinuria ORPHA:57
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia OMIM:602361
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Nephritis, Renal cyst, Polycystic li... OMIM:208500
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia/aplasia, Crossed fused renal ectopia, Vesic... ORPHA:959
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... ORPHA:368
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Anemia, Thrombocytopenia, Proteinuria ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremi... OMIM:277400
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hematuria, Hepatitis, A... ORPHA:728
Granulomatosis With Polyangiitis
Sinusitis, Hydronephrosis, Pericarditis, Diabetes insipidus, Prostatitis, Chronic otitis media, H... ORPHA:900
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Aspartylglucosaminuria, Chronic otitis media, Arthritis, Splenomegaly ORPHA:93
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibros... OMIM:619377
Renal Nutcracker Syndrome
Vulval varicose vein, Hematuria, Anemia, Varicocele, Microscopic hematuria, Proteinuria, Renal ar... ORPHA:71273
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency, Elliptocytosis ORPHA:86818
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum OMIM:614557
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hepatomegaly, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Sta... OMIM:219800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Exercise-induced myoglobinuria, Dicarboxylic... OMIM:201475
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... ORPHA:744
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Increased ... ORPHA:71212
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Hematuria, Arthritis, Skin rash, Glomerulopathy, ... ORPHA:761
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Micronodular cirrhosis OMIM:192315
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria, Hepatomegaly, Hepatic steatosis ORPHA:228305
Genetic Recurrent Myoglobinuria
Myositis, Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insuff... ORPHA:99845
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Melas
Focal segmental glomerulosclerosis, Hypoparathyroidism, Type II diabetes mellitus, Proximal tubul... ORPHA:550
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617729
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Stage 5 chronic kidney disease, Keratitis, Abnormality of the female genitalia, Vagina... ORPHA:1018
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Sideroblastic anemia OMIM:255125
Cornelia De Lange Syndrome 1
Hypospadias, Renal hypoplasia, Hypoplastic labia majora, Hypoplastic nipples, Thrombocytopenia, P... OMIM:122470
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Recurrent pneumonia, Bladde... OMIM:225400
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Neutropenia, Aspartylglucosaminuria, Vacuolated lymphocytes, Acne OMIM:208400
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Uveitis, Male hypogonadism, Cryptorchidism, Proteinuria, Renal insufficienc... ORPHA:90321
Agel Amyloidosis
Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology ORPHA:85448
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Delay... ORPHA:77261
Menkes Disease
Prolonged neonatal jaundice, Bladder diverticulum, Osteomyelitis ORPHA:565
Pheochromocytoma
Pheochromocytoma, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Proximal renal tubular acidosis, Oligosacchariduria, Periodontitis, Hyperal... ORPHA:534
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Normochro... ORPHA:91500
Galloway-Mowat Syndrome
Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:2065
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Cardiac-Urogenital Syndrome
Patent urachus, Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Hepatopulmona... OMIM:618280
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Williams-Beuren Syndrome
Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Early onset of sexual maturation, Pelvic k... OMIM:194050
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Polysplenia, Right ventricular hypertrophy, Renal cyst... OMIM:312870
Hellp Syndrome
Hemoglobinuria, Microangiopathic hemolytic anemia, Acute kidney injury, Proteinuria, Thrombocytop... ORPHA:244242
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthritis, Proteinuria,... ORPHA:2614
Williams Syndrome
Chronic otitis media, Hypercalciuria, Abnormality of the bladder, Type II diabetes mellitus, Reno... ORPHA:904
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Renal Fanconi syndrome, Hemoglobinuria, Pancytopenia, Leukopenia, Erythroid hyp... ORPHA:447
Donnai-Barrow Syndrome
Bicornuate uterus, Low-molecular-weight proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Kawasaki Disease
Myocarditis, Leukocytosis, Conjunctivitis, Pericarditis, Sterile pyuria, Cheilitis, Hepatitis, Ar... ORPHA:2331
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... ORPHA:411629
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Bladder diverticulum, Unilateral renal agenesis ORPHA:90348
Fabry Disease
Diabetes insipidus, Nephrotic syndrome, Hyperlipidemia, Hematuria, Anemia, Arthritis, Left ventri... ORPHA:324
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Parotitis, Acute pancreatitis,... ORPHA:99827
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria,... OMIM:251300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Anu... ORPHA:90038
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Pulmonary lymphangiectasia, Hydronephrosis, Asplenia, Hydroureter, Annular pancreas,... OMIM:265380
Occipital Horn Syndrome
Hepatitis, Esophagitis, Recurrent urinary tract infections, Cholestasis, Bladder diverticulum, Ja... ORPHA:198
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Polycystic kidney dysplasia, Proteinuria, Ovar... OMIM:311200
Cockayne Syndrome A
Hepatomegaly, Thymic hormone decreased, Splenomegaly, Hypogonadism, Micropenis, Cryptorchidism, P... OMIM:216400
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria, Cholestasis OMIM:609015
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney injury, Urinary incontinence, Thrombocy... ORPHA:94093
Cockayne Syndrome
Keratoconjunctivitis sicca, Renal hypoplasia, Hepatomegaly, Nephrotic syndrome, Abnormal renal ph... ORPHA:191
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum ORPHA:536545
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Leukocytosis, Decreased urine output, Pneumonia, Anuria, Acute colitis, Pancreatitis... ORPHA:544482
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Myoglobinuria, Premature thelarche, Hypothyroidism, Premature pubarche OMIM:616878
Holoprosencephaly
Abnormality of the spleen, Hypoplasia of penis, Diabetes insipidus, Abnormality of the urinary sy... ORPHA:2162
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Hypercholesterolemia,... OMIM:309000
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Left ventricu... OMIM:619127
Gaucher Disease
Hepatomegaly, Osteoarthritis, Hematuria, Hepatitis, Anemia, Splenomegaly, Cirrhosis, Osteomyeliti... ORPHA:355
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Orofaciodigital Syndrome Type 1
Hydronephrosis, Pancreatic cysts, Chronic otitis media, Abnormality of the pancreas, Multicystic ... ORPHA:2750
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Micropenis, Cryptorchidism, Proteinuria, Renal insufficiency OMIM:133540
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse, Osteoarthritis, Bladder diverticulum ORPHA:287
Aymé-Gripp Syndrome
Breast hypoplasia, Cryptorchidism, Proteinuria, Pericarditis ORPHA:1272
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Periodontitis, Uterine prolapse, Cystoce... ORPHA:286
Vater/Vacterl Association
Hypospadias, Patent urachus, Hydronephrosis, Renal agenesis, Renal dysplasia, Ureteropelvic junct... OMIM:192350
Pmm2-Cdg
Pericarditis, Hepatic fibrosis, Nephrotic syndrome, Hypogonadotropic hypogonadism, Abnormal liver... ORPHA:79318

Histopathology

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

There is no histopathology data for Gstk1

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 Gstk1.

No publications found that use IMPC mice or data for Gstk1.

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MGI Allele Allele Type Produced
Gstk1tm298820(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gstk1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gstk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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