Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tensin 2
Synonyms:
Tenc1,  nep,  nph

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tns2 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 Tns2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Renal tubular atrophy, Di... OMIM:256300
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipos... OMIM:608709
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Progressive loss of faci... OMIM:613913
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation... OMIM:617006
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, Anemia, ... OMIM:603278
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoa... OMIM:600995
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, Stag... OMIM:615573
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Chronic kidney disease, Hyperlipidemia, Facial edema, Macroscopic hematuria, Pa... ORPHA:567546
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:616730
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Splenomegaly, Increase... OMIM:615559
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent tonsillitis, Membranoproliferative glomerulonephritis, Recurrent pn... OMIM:613779
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... OMIM:613496
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Edema OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Anal atresia, Malabsorption, Hypoplasia of penis, Hypoproteinemia, Hy... ORPHA:2315
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia,... OMIM:235255
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Anterior uveitis, Non-caseating epithelioid cell granulomat... OMIM:607665
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glomerulonep... OMIM:619858
Lymphangiectasia, Intestinal
Malabsorption, Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia, Neonatal hypoprotein... OMIM:152800
Galloway-Mowat Syndrome 7
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:618348
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:614196
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria, Edema OMIM:189800
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Enamel ... OMIM:618349
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia,... ORPHA:1655
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Edema, Hypo... OMIM:615244
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... OMIM:619644
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hypoproteinemia, Delayed menarche, Decreased ... ORPHA:247585
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hypoproteinemia, Iron deficiency anemia, Intestinal obstruction, Thrombocytosis, H... OMIM:226300
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Increased stool alpha1-antitrypsin co... ORPHA:90362
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney diseas... OMIM:301006
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Edema, Neutropenia, Abnormal intestine morphology OMIM:600351
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Pedal edema, Renal insufficiency, P... ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Al Amyloidosis
Nephrotic syndrome, Autonomic erectile dysfunction, Macroglossia, Renal interstitial amyloid depo... ORPHA:85443
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... OMIM:254900
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, High palate, High, narrow palate, Renal insufficiency OMIM:248760
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated circulating c... ORPHA:85450
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating cre... OMIM:614376
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Systemic Sclerosis
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s... ORPHA:90291
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphedema, Lymphopenia, Hypoproteinemia ORPHA:1116
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Membranoproliferative glomerulonephritis OMIM:305800
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease, High palate ORPHA:2172
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lymphocytopenia, ... OMIM:603554
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Skin rash, Hemophago... OMIM:603553
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Anemia, Ele... ORPHA:231111
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating creatine kinase ... OMIM:615895
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Elevated circulating C-reactive protein concentration, Rheumatoid ar... ORPHA:49041
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, ... OMIM:616414
Congenital Analbuminemia
Hyperlipidemia, Facial edema, Hypoproteinemia, Increased alpha-globulin, Lipodystrophy, Pedal ede... ORPHA:86816
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Increased blood urea nitrogen,... OMIM:154230
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Autoimmune thrombocytopenia, Arthr... OMIM:304790
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bil... OMIM:620010
Lymphatic Filariasis
Hydrocele testis, Predominantly lower limb lymphedema, Nephrotic syndrome, Urethral obstruction, ... ORPHA:2035
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Edema OMIM:105200
Maternally-Inherited Diabetes And Deafness
Malabsorption, Abnormal circulating lipid concentration, Renal insufficiency, Proteinuria, Glomer... ORPHA:225
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Primary amenorrhea, Gonad... OMIM:136680
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Helicobacter pylori infection, Elevated circul... ORPHA:275555
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Elevated circulating cr... OMIM:274150
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... ORPHA:54057
Enterokinase Deficiency
Hypoproteinemic edema, Hypoproteinemia OMIM:226200
Growth Hormone Insensitivity Syndrome
Hypoplasia of penis, Hypercholesterolemia, Hypogonadism ORPHA:181393
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... ORPHA:470
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... OMIM:152700
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Malabsorptio... ORPHA:37042
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Eosin... OMIM:618999
Morbid Obesity And Spermatogenic Failure
Infertility, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol con... OMIM:615703
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Edema, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal pro... ORPHA:1830
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Fulminant hepatitis, Sclerosing cholangitis, Hepatocellular carcin... ORPHA:2137
Bacterial Toxic-Shock Syndrome
Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis, Increase... ORPHA:36234
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Primary amen... OMIM:612526
Trypsinogen Deficiency
Anal atresia, Hypoproteinemia OMIM:614044
Dengue Fever
Skin rash, Hypoproteinemia, Leukopenia, Thrombocytopenia, Gastrointestinal hemorrhage, Ascites ORPHA:99828
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Gout, Increased circulating r... ORPHA:90041
Paroxysmal Nocturnal Hemoglobinuria
Impotence, Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancy... ORPHA:447
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Menorrhagia, Hematuria, Leukocyte inclusion bodies, Prote... OMIM:153640
Galloway-Mowat Syndrome 6
High palate, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia OMIM:618347
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Increased propo... ORPHA:167
Galactokinase Deficiency
Increased level of galactitol in urine, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Dehydration,... ORPHA:93101
Multiple Myeloma
Nephrotic syndrome, Splenomegaly, Hyperproteinemia, Nephropathy, Elevated circulating creatinine ... ORPHA:29073
Pierson Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Hypoproteinemia, Hyperechogenic kidneys, Protein... OMIM:609049
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis, Hypoproteinemia OMIM:137280
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Gout, Hypercholesterolemia OMIM:610947
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Hypergonadotropic hypogonadism, Elevated circulating... OMIM:607426
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Anemia ORPHA:2668
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Aminoaciduria, Elevated circulating long chain fatty acid concentration, High, narro... OMIM:214100
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Reduced subcutaneous adipose tissue, Chronic kidney disease, Pulmonary lymphang... OMIM:137940
Temple Syndrome
High palate, Recurrent otitis media, Flexion contracture, Cleft palate, Bifid uvula, Hypertriglyc... OMIM:616222
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Hypogonadism ORPHA:66631
Majeed Syndrome
Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Flexion contracture,... ORPHA:77297
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Immunodeficiency 43
Bronchiectasis, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:370
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Lymphadenopathy, D... ORPHA:93552
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Inflammatory abnormality of the skin, Hypoproteinemia, Hyperammonemia, Elevated cir... ORPHA:26793
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hypersplenism, Uveitis, Bone marrow hypoc... ORPHA:3261
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Retrograde ejacu... ORPHA:230
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Neuraminidase Deficiency
Facial edema, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Urinary excretion of sialyla... OMIM:256550
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Liver Disease, Severe Congenital
Hydrocele testis, Increased circulating ferritin concentration, Chronic gastritis, Eczema, Umbili... OMIM:619991
Oligomeganephronia
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Renal tubular atrophy, Uni... ORPHA:2260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:264580
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Thymoma
Rheumatoid arthritis, Aplastic anemia, Myositis, Neoplasm of the gastrointestinal tract, Prostate... ORPHA:99867
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Microscopic hematuria, Proteinuria OMIM:261100
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ve... ORPHA:261222
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Cryptorchidism, Nephropathy, Proteinuria, Anemia ORPHA:1192
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Polyuria, Leukopenia, Hyperechogenic kidneys, Proteinuria... OMIM:613845
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Myoglobinuria, Elevated circulating creatine ... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Flexion contracture, Hypoproteinemia OMIM:608093
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Menorrhagia, In... ORPHA:182050
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Aicardi-Goutieres Syndrome 9
Micropenis, Anemia, Hepatosplenomegaly, Recurrent urinary tract infections, Hyperechogenic kidney... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Glycogen Storage Disease V
Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232600
Denys-Drash Syndrome
Nephrotic syndrome, Male pseudohermaphroditism, Nephroblastoma, Nephropathy, Gonadal dysgenesis, ... ORPHA:220
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow ... ORPHA:443811
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopenia, Epididymiti... ORPHA:1304
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... ORPHA:91139
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Proteinuria, Hepatocellular carcinoma ORPHA:369
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Neutropenia, Decreased glomerular filtration rate,... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, Polycyst... ORPHA:79259
Cockayne Syndrome Type 1
Scarring, Increased blood urea nitrogen, Anemia, Enamel hypoplasia, Uveitis, Renal insufficiency,... ORPHA:90321
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated ... OMIM:613404
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Increased blood urea nitrogen, Abnormal renal physiology, Elevated circu... OMIM:223900
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Increased total... OMIM:232800
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Hypoalbumin... ORPHA:255249
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Malabsorption, Abnormality of the kidney, Nephropathy... ORPHA:85445
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Neutropenia, Nephritis, Flexion contracture, Splenomegaly, Renal tubular atro... OMIM:617303
Hypocomplementemic Urticarial Vasculitis
Skin rash, Splenomegaly, Hematuria, Arthritis, Angioedema, Episcleritis, Uveitis, Proteinuria, Pl... ORPHA:36412
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Orthostatic Hypotension 1
High palate, Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Retrograde ejaculation OMIM:223360
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Laron Syndrome
Osteoarthritis, Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Free Sialic Acid Storage Disease
Nephrotic syndrome, Splenomegaly, Hydrops fetalis, Proteinuria, Ascites ORPHA:834
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis, Foot joint contracture, Ankyloglossia, Anal fissure, Gastrointestinal inflamma... ORPHA:79408
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Elevated circulating C-re... ORPHA:48435
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Wilson Disease
Glycosuria, Pedal edema, Esophageal varix, Proteinuria, Hypouricemia, Renal tubular dysfunction, ... OMIM:277900
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Esophageal varix, Splenomegaly, Hypercholesterolemia ORPHA:75234
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Hypokalemia, Pancreatitis, Leukocytosis, Intussusception, Hemoglobinuria, Dehydrat... ORPHA:90038
Cystinosis
Renal tubular dysfunction, Malabsorption, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydrati... ORPHA:213
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Cystic Echinococcosis
Abnormality of the testis size, Hyperbilirubinemia, Ovarian cyst, Eosinophilia, Membranous nephro... ORPHA:400
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Proteinuria, Acne... ORPHA:69126
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune h... OMIM:212065
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Pancreatic insufficiency, combined exocrine
Anal atresia, Anasarca, Hypoproteinemia OMIM:260450
Congenital Generalized Lipodystrophy
Amenorrhea, Precocious puberty in females, Macroglossia, Increased C-peptide level, Oligomenorrhe... ORPHA:528
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Galloway-Mowat Syndrome 3
High palate, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Camptodactyly, Prote... OMIM:617729
Cryoglobulinemic Vasculitis
Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Gastrointestina... ORPHA:91138
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Donnai-Barrow Syndrome
Bicornuate uterus, Congenital diaphragmatic hernia, Intestinal malrotation, Abnormality of the ut... ORPHA:2143
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... OMIM:134600
Familial Mediterranean Fever
Malabsorption, Nephrotic syndrome, Orchitis, Pancreatitis, Skin rash, Splenomegaly, Peritonitis, ... ORPHA:342
Renal Cysts And Diabetes Syndrome
Glycosuria, Gout, Elevated circulating creatinine concentration, Proteinuria, Hyperuricemia, Stag... OMIM:137920
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Hyperkalemia OMIM:268200
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Legionnaires Disease
Pancreatitis, Lymphopenia, Cellulitis, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepati... ORPHA:549
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Congenital diaphragmatic hernia, Renal insufficiency, Proteinuria, Stage... OMIM:166300
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Hepatocellul... OMIM:232200
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Macular edema, Nephropathy, Normocytic anemia, Elevated circulating creatinine concent... ORPHA:247691
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cocaine Intoxication
Colitis, Pulmonary edema, Elevated circulating creatine kinase concentration, Hematuria, Tubuloin... ORPHA:90068
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Renal in... ORPHA:713
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Celluliti... ORPHA:90186
Immunodeficiency 23
High palate, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Hemolyt... OMIM:615816
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Malakoplakia
Dysuria, Neoplasm of the rectum, Neoplasm of the colon, Inflammatory abnormality of the skin, Orc... ORPHA:556
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Chronic kidney disease, Recurrent myoglobinuria, Elevated circulating creatine kinase... ORPHA:368
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Chronic hemolytic ane... OMIM:210250
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Renal Agenesis
Anal atresia, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Osteootohepatoenteric Syndrome
Hypokalemia, Dehydration, Ileoileal intussusception, Increased intestinal transit time, Villous a... OMIM:619377
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Bilateral renal agenesis, Primary amenorrhea, Renal dysplasia, Proteinuria, Va... OMIM:191830
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Lower-limb joint contracture, Abnormality of the upper urin... ORPHA:99885
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Splenomegaly, Hemoglobinuria, Increased red cell he... OMIM:194380
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Hemolytic anemia, Acute kidney injury, Hy... ORPHA:57
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Vaginal dryness, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestina... ORPHA:95455
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Splenomegaly, Hepatosplenomegaly, Decreased... OMIM:278000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Precocious puberty, Dentinogenesis imperfecta, Moderate albuminuria, Hydronephrosis OMIM:619269
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Recurrent otitis media, Precocious puberty, Hypercholesterolemia ORPHA:254531
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... ORPHA:411634
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Smith-Magenis Syndrome
Precocious puberty, Renal hypoplasia/aplasia, Gastroesophageal reflux, Cleft palate, Abnormality ... ORPHA:819
Nail-Patella Syndrome
Nephrotic syndrome, Cleft palate, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Primary Sjögren Syndrome
Chronic active hepatitis, Vaginal dryness, Thrombocytopenia, Arthritis, Arteritis, Lymphopenia, A... ORPHA:289390
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Splenomegaly... OMIM:219800
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Hypersegmentation of neutrophil nuclei, Anisopoikilocytosis, M... ORPHA:35858
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Steatorrhea, Dehydration, Hepatosplenomegaly, Abnormal urine potassium co... ORPHA:275761
Wild Type Attr Amyloidosis
Nephrotic syndrome, Pulmonary edema, Nephropathy, Pedal edema, Proteinuria, Pleural effusion, Ren... ORPHA:330001
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Proteinuria, Anemia, Thro... ORPHA:90060
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria, Reticulocytosis, Erythroid... OMIM:300653
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Inguinal hernia, Splenomegaly, Membranoproliferative glomerulonephritis,... OMIM:619525
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Hypertriglyceridemia, C... OMIM:610644
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fa... ORPHA:2457
Microcephaly, Epilepsy, And Diabetes Syndrome 1
High palate, External genital hypoplasia, Moderate albuminuria, Hypogonadism, Cryptorchidism, Sma... OMIM:614231
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, High, narrow palate, Hyperammon... ORPHA:228308
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Esophageal neoplasm, Chronic kidney disease, Uterine neoplasm, Gastroesophageal reflux... ORPHA:1018
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Precocious puberty, Cleft palate, Bifid uvula, Pyloric stenosis, Recurrent otitis me... ORPHA:96184
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Myoglobinuria, Cystic renal dys... ORPHA:157
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Renal hypoplasia, Renal insufficiency, Proteinuria, Microglossia, Cryp... ORPHA:1307
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hem... OMIM:277400
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatoblastoma, Decreased glomerular filtration rate, Hepat... OMIM:232240
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Hypoammonemia, Hematuria, Proteinuria, Umbilical hernia, Nephrolithiasis, Joint swelli... ORPHA:534
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Incre... OMIM:613179
Gaucher Disease Type 1
Splenomegaly, Osteoarthritis, Leukopenia, Hematuria, Thrombocytopenia, Pedal edema, Proteinuria, ... ORPHA:77259
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Camptodactyly of finger, Nephropathy, Proteinuria ORPHA:2774
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Dysmenorrhea, Vulval varicose vein, Hematuria, Varicocele, Proteinuria,... ORPHA:71273
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Abnormality of the urinary system, Abnormal renal morphology, Hyper... OMIM:182290
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Neutropenia, Anemia, Thrombocytopenia, Focal segmental glomerulo... OMIM:242900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:276621
Goodpasture Syndrome
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... OMIM:233450
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... OMIM:300554
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica... ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thrombocytopenia OMIM:603585
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Labial pseudohyper... OMIM:151660
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Increased serum pyruvate, Hypochromic microcytic anemia, Mild proteinuria, Renal ins... OMIM:619147
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Renal cyst, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Edema, Pro... OMIM:602579
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Renal insufficiency, Proteinuri... OMIM:610965
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Malabsorption, Gastroesophageal reflux, Skin rash, Eosinophilia, Endocarditis, Hematur... ORPHA:183
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Abnormal T cell morphology, Proteinuria OMIM:215250
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Superficial dermal peri... ORPHA:284426
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Uretera... ORPHA:160
Ddost-Cdg
Lipodystrophy, Gastroesophageal reflux, Nephrotic range proteinuria ORPHA:300536
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Bardet-Biedl Syndrome 20
Pancreatitis, Micropenis, Proteinuria, Male hypogonadism, Hypercholesterolemia, Bilateral cryptor... OMIM:619471
Proximal Renal Tubular Acidosis
Nephrolithiasis, Malabsorption, Hypokalemia, Aminoaciduria, Hyperuricosuria, Dehydration, Glycosu... ORPHA:47159
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Nephrotic syndrome, Flexion contracture, Macroglossia, Hepatosplenomeg... ORPHA:505248
Glycogen Storage Disease Iv
Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Esophageal vari... OMIM:232500
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Pneumonia, Bone marrow hypocellularity, Hemolytic-uremic synd... ORPHA:2968
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Hemoglobinuria, Elevated circu... OMIM:611881
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Dehydration, L... ORPHA:18
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Recurrent infection of the gastrointestinal tract, Hypercho... ORPHA:263501
Fabry Disease
Lymphedema, Renal insufficiency, Proteinuria, Lipiduria, Anemia, Urinary mulberry cells OMIM:301500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Elevated circulating creatine... OMIM:201475
Hellp Syndrome
Pulmonary edema, Hemoglobinuria, Hemolytic anemia, Proteinuria, Pleural effusion, Acute kidney in... ORPHA:244242
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Myositis, Oliguria, Hyperphosphatemia, Acute k... ORPHA:99845
Galloway-Mowat Syndrome 1
High palate, Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffuse mesangial ... OMIM:251300
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Pearson Syndrome
Steatorrhea, Corneal stromal edema, Glycosuria, Median cleft lip and palate, Proteinuria, Hypopla... ORPHA:699
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft palate, Recurrent skin infections, Recurrent urinary t... ORPHA:33001
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Renovascular hypertension ORPHA:401923
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki... ORPHA:228305
Leptospirosis
Optic neuritis, Skin rash, Hyperproteinemia, Thrombocytopenia, Hepatitis, Uveitis, Acute kidney i... ORPHA:509
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Hematuria, Proteinuria, Edema, Gastrointestinal hemorrhage OMIM:192315
Immunoglobulin A Vasculitis
Orchitis, Pustule, Skin rash, Hematuria, Arthritis, Angioedema, Gastrointestinal hemorrhage, Gast... ORPHA:761
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Dehydration, Myoglobinuria, Ele... ORPHA:94093
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, High palate, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Protei... OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... OMIM:609015
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Proteinuria, Recurrent otitis media, Cryptorchidism, Multiple bladder diverticula, ... ORPHA:2728
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... OMIM:301050
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Acute pancreatitis, Hypertri... ORPHA:79086
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Skin... ORPHA:900
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Proteinuria, Hypercalcemia, Elevated ... ORPHA:29072
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Myocarditis, Pneumonia, Decreased urine output, Generalized edema, Anuria, Septic a... ORPHA:544482
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Abnormal circulating fatty-acid concentration, Glycosuria, Renal Fancon... ORPHA:263455
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Joint contracture of the hand, Proximal renal tubular acidosis, Camptodactyly of f... OMIM:309000
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Cleft palate, Otitis media, Pyloric stenosis, P... OMIM:122470
Insulin-Resistance Syndrome Type B
Nephritis, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio... ORPHA:2298
Donnai-Barrow Syndrome
Bicornuate uterus, Non-acidotic proximal tubulopathy, Congenital diaphragmatic hernia, Intestinal... OMIM:222448
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria, Autoimmune hemolytic anemia, Coombs-positive hemolytic an... ORPHA:90035
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Myoglobinuria OMIM:602199
Martin-Probst Syndrome
Chordee, Bifid scrotum, Micropenis, Pancytopenia, Renal insufficiency, Proteinuria, Umbilical her... OMIM:300519
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Bilateral cryptorchidism, Hyperbilirubinemia, Increased serum bile acid concent... OMIM:619685
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Nephrotic syndrome, Colitis, Chronic oral candidiasis, Skin ... ORPHA:911
Ohdo Syndrome
Cryptorchidism, Proteinuria, Small scrotum OMIM:249620
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Hamstring contractures, Flexion contracture of finger, Flexion contracture, Myoglobinuria, Elevat... ORPHA:206549
Duodenal Neuroendocrine Tumor
Melena, Increased hematocrit, Hematemesis, Intestinal carcinoid, Iron deficiency anemia, Zollinge... ORPHA:100076
Agel Amyloidosis
Abnormal spleen morphology, Xerostomia, Tongue atrophy, Proteinuria, Blepharochalasis, Edema, Ker... ORPHA:85448
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased circulating free fa... ORPHA:71212
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Hematuria, Proteinuria ORPHA:1765
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Macroglossia, Ex... OMIM:607155
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydration, Glycosuria,... ORPHA:411629
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Chondrocalcinosis, Nocturia, G... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Premature thelarche,... OMIM:616878
Apolipoprotein C-Ii Deficiency
Pancreatitis, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... OMIM:207750
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Congenital Erythropoietic Porphyria
Anisocytosis, Nonimmune hydrops fetalis, Reduced haptoglobin level, Scarring, Reticulocytosis, Er... ORPHA:79277
Galloway-Mowat Syndrome
Nephrotic syndrome, Hiatus hernia, Camptodactyly of finger, Nephropathy, Proteinuria ORPHA:2065
Fabry Disease
Malabsorption, Nephrotic syndrome, Hyperlipidemia, Abnormal circulating lipid concentration, Abno... ORPHA:324
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Oligosacchariduria, Macroglossia, Furrowed tongu... ORPHA:2483
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Conjugated hyperbilirubinemia, Esophageal var... OMIM:619662
Alagille Syndrome 1
Renal tubular acidosis, Hepatocellular carcinoma, Renal dysplasia, Focal segmental glomeruloscler... OMIM:118450
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:86818
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, High palate, Hyper... OMIM:248370
Nail-Patella Syndrome
Nephrotic syndrome, Nephritis, Flexion contracture, Morphological abnormality of the gastrointest... ORPHA:2614
Melas
Hypogonadotropic hypogonadism, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Recu... ORPHA:550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Otitis media, Eosinophilia, Abnormally low T ce... OMIM:602450
Tyrosinemia, Type I
Melena, Hypophosphatemic rickets, Paralytic ileus, Splenomegaly, Elevated alpha-fetoprotein, Hepa... OMIM:276700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Polyhyd... OMIM:613090
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Spondyloenchondrodysplasia
Chronic kidney disease, Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, He... ORPHA:1855
Gaucher Disease Type 3
Splenomegaly, Hydrops fetalis, Hematuria, Proteinuria, Pancytopenia, Anemia, Thrombocytopenia, Pe... ORPHA:77261
Severe Oculo-Renal-Cerebellar Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2715
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Malabsorption, Intussusception, Lymphedema, Edema, Lymphopenia, Secon... ORPHA:90363
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Pheochromocytoma
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis OMIM:171300
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Polyuria, Decreased adipose tissue around neck, Hypertriglyc... OMIM:606721
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent bacterial skin infections, Chronic oral candidia... ORPHA:276
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Abnormal circulating thyroglobulin level, Umbilical hernia, Hyperchol... ORPHA:90674
Agammaglobulinemia, X-Linked
Bronchiectasis, Prostatitis, Neutropenia, Pyoderma, Enteroviral hepatitis, Recurrent urinary trac... OMIM:300755
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Gout, Acute pan... ORPHA:412
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Proteinuria, Renal ... OMIM:208500
Crimean-Congo Hemorrhagic Fever
Melena, Neutrophilia, Hematuria, Myocarditis, Thrombocytopenia, Epididymitis, Proteinuria, Pancyt... ORPHA:99827
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Hematuria, Myocarditis, Arthritis, Hepatitis, Uveitis, Ren... ORPHA:728
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Kawasaki Disease
Cheilitis, Skin rash, Leukocytosis, Cervical lymphadenopathy, Sterile pyuria, Myocarditis, Cholec... ORPHA:2331
Mandibuloacral Dysplasia Progeroid Syndrome
High palate, Flexion contracture, Elevated hemoglobin A1c, Generalized lipodystrophy, Focal segme... OMIM:619127
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney, Transudative pleural effusion, Asc... ORPHA:284227
Megalocornea-Mental Retardation Syndrome
High palate, Dysphagia, Bifid uvula, Hypercholesterolemia OMIM:249310
Gaucher Disease
Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Osteoarthriti... ORPHA:355
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Esop... OMIM:619534
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria OMIM:231530
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Hypoplastic female external genitalia, Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Low Phospholipid-Associated Cholelithiasis
Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholangitis, Cholecysti... ORPHA:69663
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Recurrent bacterial skin infections, Splenomegaly, Seborrhoeic blepharitis... ORPHA:95159
Holoprosencephaly
Gastroesophageal reflux, Hypoplasia of penis, Congenital diaphragmatic hernia, Intestinal atresia... ORPHA:2162
Alström Syndrome
Pancreatitis, Decreased fertility in males, Otitis media, Hypergonadotropic hypogonadism, Hyoplas... ORPHA:64
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Thymic hormone decreased, Hip contracture, Micropenis, Splen... OMIM:216400
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... ORPHA:423
Megalocornea-Intellectual Disability Syndrome
High palate, Hypercholesterolemia ORPHA:2479
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Nephrotic syndrome, Gastroesophageal reflux, Abnormal renal ... ORPHA:191
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia ORPHA:90065
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circulating copper conce... OMIM:300972
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Pe... OMIM:236700
Williams Syndrome
Tracheoesophageal fistula, Rectal prolapse, Proteinuria, Periorbital edema, Umbilical hernia, Pol... ORPHA:904
Orofaciodigital Syndrome I
High palate, Cleft palate, Ovarian cyst, Bifid tongue, Lobulated tongue, Enamel hypoplasia, Hamar... OMIM:311200
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate, Camptodactyly, Pericarditis, Prot... ORPHA:1272
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypertriglyceridemia, Lipoatrophy, Hypercholesterolemia ORPHA:363618
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Flexion contracture, Micropenis, Leukocytosis, Azotemia, Intestinal malr... OMIM:619321
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Splenomegaly, Micropenis, Renal insufficiency, Proteinuria, ... OMIM:133540
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Orofaciodigital Syndrome Type 1
High palate, Cleft palate, Multicystic kidney dysplasia, Chronic otitis media, Lobulated tongue, ... ORPHA:2750
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Steinert Myotonic Dystrophy
Testicular atrophy, Impotence, Oral-pharyngeal dysphagia, Hypergonadotropic hypogonadism, Endomet... ORPHA:273
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Sarcoidosis
Maculopapular exanthema, Thrombocytopenia, Uveitis, Enlargement of parotid gland, Scarring, Nephr... ORPHA:797
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Pmm2-Cdg
High palate, Multiple joint contractures, Nephrotic syndrome, Abnormal renal tubule morphology, H... ORPHA:79318
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal steatosis, Hypercholesterolemia, R... ORPHA:391665
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812

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 Tns2

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 Tns2.

No publications found that use IMPC mice or data for Tns2.

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MGI Allele Allele Type Produced
Tns2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tns2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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